Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
NOC2L	26155	broad.mit.edu	37	1	883896	883896	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:883896C>T	uc001abz.3	-	13	1590	c.1531G>A	c.(1531-1533)GTC>ATC	p.V511I	NOC2L_uc001aby.3_Missense_Mutation_p.V308I|NOC2L_uc009vjq.2_Missense_Mutation_p.V511I	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	511						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)		TGCAGGTTGACATTGGACAGC	0.632000												
LOC649330	649330	broad.mit.edu	37	1	12907401	12907401	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:12907401C>A	uc009vno.2	-	1	837	c.742G>T	c.(742-744)GTT>TTT	p.V248F	HNRNPCL1_uc010obf.1_Missense_Mutation_p.A248S	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN	heterogeneous nuclear ribonucleoprotein C-like	248							nucleic acid binding|nucleotide binding				0						CCCTCCTCAGCAGAGTCTTCT	0.493000												
SPEN	23013	broad.mit.edu	37	1	16261743	16261743	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:16261743C>T	uc001axk.1	+	11	9212	c.9008C>T	c.(9007-9009)TCG>TTG	p.S3003L	SPEN_uc010obp.1_Missense_Mutation_p.S2962L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3003					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)		CATGTCCCCTCGGGGCCCAGC	0.607000												
UBR4	23352	broad.mit.edu	37	1	19436703	19436703	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:19436703G>A	uc001bbi.2	-	81	11996	c.11992C>T	c.(11992-11994)CTC>TTC	p.L3998F		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3998					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)		ACAGCCATGAGGAAAAGGCTG	0.507000												
PINK1	65018	broad.mit.edu	37	1	20975025	20975025	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:20975025A>G	uc001bdm.2	+	6	1245	c.1151A>G	c.(1150-1152)GAT>GGT	p.D384G	PINK1_uc001bdn.2_Missense_Mutation_p.D77G	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	384	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)		GTGATCGCAGATTTTGGCTGC	0.607000												
ALPL	249	broad.mit.edu	37	1	21904089	21904089	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:21904089C>A	uc001bet.2	+	12	1780	c.1523C>A	c.(1522-1524)GCA>GAA	p.A508E	ALPL_uc010odn.1_Missense_Mutation_p.A456E|ALPL_uc010odo.1_Missense_Mutation_p.A453E|ALPL_uc010odp.1_Missense_Mutation_p.A431E|ALPL_uc001beu.3_Missense_Mutation_p.A508E	NM_000478	NP_000469	P05186	PPBT_HUMAN	tissue-nonspecific alkaline phosphatase	508					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)	AGCCTTGCTGCAGGCCCCCTG	0.682000												
EPHA8	2046	broad.mit.edu	37	1	22903206	22903206	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:22903206C>T	uc001bfx.1	+	3	781	c.656C>T	c.(655-657)ACG>ATG	p.T219M	EPHA8_uc001bfw.2_Missense_Mutation_p.T219M	NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	219	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T219T(1)		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)		GAGGCAGTGACGGGGGCCGAC	0.637000												
MYOM3	127294	broad.mit.edu	37	1	24409198	24409198	+	Silent	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:24409198T>C	uc001bin.3	-	17	2140	c.1977A>G	c.(1975-1977)ACA>ACG	p.T659T	MYOM3_uc001bim.3_Silent_p.T316T|MYOM3_uc001bio.2_Silent_p.T659T|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	659	Fibronectin type-III 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)		GCCCGGGAACTGTAAACCTGG	0.542000												
MYOM3	127294	broad.mit.edu	37	1	24433597	24433597	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:24433597C>T	uc001bin.3	-	4	531	c.368G>A	c.(367-369)CGC>CAC	p.R123H	MYOM3_uc001bio.2_Missense_Mutation_p.R123H|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	123	Potential.									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)		CCGCCTCTGGCGCAGCAGCCG	0.687000												
CSMD2	114784	broad.mit.edu	37	1	34052731	34052731	+	Silent	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:34052731G>T	uc001bxn.1	-	46	6929	c.6900C>A	c.(6898-6900)CTC>CTA	p.L2300L	CSMD2_uc001bxm.1_Silent_p.L2298L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2300	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)				CGGCGTTGGGGAGGATGGTGG	0.502000												
BMP8B	656	broad.mit.edu	37	1	40230409	40230409	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:40230409A>G	uc001cdz.1	-	4	1130	c.754T>C	c.(754-756)TTC>CTC	p.F252L	BMP8B_uc001cea.1_Intron	NM_001720	NP_001711	P34820	BMP8B_HUMAN	bone morphogenetic protein 8B preproprotein	252					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)			CTGGCCCTGAAGAAAGTGACC	0.647000												
RAVER2	55225	broad.mit.edu	37	1	65247062	65247062	+	Splice_Site	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:65247062G>C	uc001dbs.1	+	4	865	c.787_splice	c.e4-1	p.L263_splice	RAVER2_uc001dbt.1_Splice_Site_p.L142_splice|RAVER2_uc010opb.1_Splice_Site_p.L142_splice	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2							cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						TATTGTATCAGCTTGCACAGG	0.398000												
DIRAS3	9077	broad.mit.edu	37	1	68512430	68512430	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:68512430G>C	uc001ded.2	-	2	846	c.551C>G	c.(550-552)ACC>AGC	p.T184S	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	184					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						ATTCACATCGGTCTTGGCTGA	0.542000												
WLS	79971	broad.mit.edu	37	1	68616029	68616029	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:68616029C>T	uc001def.1	-	6	1085	c.814G>A	c.(814-816)GCC>ACC	p.A272T	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.A270T|WLS_uc001deg.1_Missense_Mutation_p.A181T|WLS_uc009wbf.1_Missense_Mutation_p.A227T	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	272	Helical; Name=2; (Potential).				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						ATCCCAAGGGCAAAGATGACT	0.448000												
DBT	1629	broad.mit.edu	37	1	100684199	100684199	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:100684199G>A	uc001dta.2	-	5	571	c.538C>T	c.(538-540)CTG>TTG	p.L180L	DBT_uc010oug.1_5'UTR	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	180					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			pancreas(1)	1		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)		TCCATTGCCAGACGGCGAACT	0.393000												
SLC16A1	6566	broad.mit.edu	37	1	113456781	113456781	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:113456781A>T	uc001ecx.2	-	5	2067	c.1235T>A	c.(1234-1236)CTC>CAC	p.L412H	SLC16A1_uc001ecy.2_Missense_Mutation_p.L412H	NM_003051	NP_003042	P53985	MOT1_HUMAN	solute carrier family 16, member 1	412	Extracellular (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)	CATGTCATTGAGCCGACCTAA	0.378000												
DENND2C	163259	broad.mit.edu	37	1	115130457	115130457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:115130457C>A	uc001efd.1	-	19	3250	c.2548G>T	c.(2548-2550)GAA>TAA	p.E850*	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Nonsense_Mutation_p.E793*	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	850	dDENN.									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)		CGGAATGGTTCCCTTTGGAAA	0.488000												
NOTCH2	4853	broad.mit.edu	37	1	120480053	120480053	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:120480053A>C	uc001eik.2	-	21	3630	c.3374T>G	c.(3373-3375)GTC>GGC	p.V1125G	NOTCH2_uc001eil.2_Missense_Mutation_p.V1125G	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1125	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)		ATTGATGCAGACACCTGAGTG	0.522000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
PDE4DIP	9659	broad.mit.edu	37	1	144882804	144882804	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:144882804T>A	uc001elw.3	-	24	3506	c.3215A>T	c.(3214-3216)GAG>GTG	p.E1072V	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.E1138V|PDE4DIP_uc001elv.3_Missense_Mutation_p.E79V	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1072					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)		TTCCTCGATCTCCCATCCATC	0.502000			T	PDGFRB	MPD							
POGZ	23126	broad.mit.edu	37	1	151378394	151378394	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:151378394G>A	uc001eyd.1	-	19	3423	c.3117C>T	c.(3115-3117)CGC>CGT	p.R1039R	POGZ_uc001eye.1_Silent_p.R986R|POGZ_uc010pdb.1_Silent_p.R1030R|POGZ_uc001eyf.1_Silent_p.R995R|POGZ_uc010pdc.1_Silent_p.R977R|POGZ_uc009wmv.1_Silent_p.R944R|POGZ_uc010pdd.1_Silent_p.R530R	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1039	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)			GCTGTTGTTCGCGCTGGGTTA	0.522000												
TDRD10	126668	broad.mit.edu	37	1	154479756	154479756	+	Silent	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:154479756G>C	uc009wow.2	+	3	880	c.42G>C	c.(40-42)CTG>CTC	p.L14L	TDRD10_uc001ffd.2_Silent_p.L14L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	14							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)			CTGATAAACTGTTTGGGAAGA	0.502000												
IFI16	3428	broad.mit.edu	37	1	158984584	158984584	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:158984584A>T	uc001ftf.1	+	3	721	c.114A>T	c.(112-114)AAA>AAT	p.K38N	IFI16_uc001ftg.2_Missense_Mutation_p.K38N|IFI16_uc010pis.1_Missense_Mutation_p.K38N	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	38	DAPIN.|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)					TTAATTTAAAAATGAGAGAAG	0.318000												
RC3H1	149041	broad.mit.edu	37	1	173915728	173915728	+	Silent	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:173915728T>C	uc001gju.3	-	16	2934	c.2847A>G	c.(2845-2847)TCA>TCG	p.S949S	RC3H1_uc010pms.1_Silent_p.S949S|RC3H1_uc001gjv.2_Silent_p.S949S|RC3H1_uc010pmt.1_Silent_p.S949S	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	949					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						TGGCCACTTCTGACATAGATA	0.388000												
RFWD2	64326	broad.mit.edu	37	1	176118177	176118177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:176118177C>A	uc001gku.1	-	6	1052	c.796G>T	c.(796-798)GAA>TAA	p.E266*	RFWD2_uc001gkv.1_Nonsense_Mutation_p.E262*|RFWD2_uc001gkw.1_Nonsense_Mutation_p.E26*|RFWD2_uc009wwv.2_Nonsense_Mutation_p.E26*|RFWD2_uc001gkt.1_Nonsense_Mutation_p.E125*	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	266	Potential.				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						TTGAGGAATTCCATAAGAATC	0.269000												
FAM5B	57795	broad.mit.edu	37	1	177250236	177250236	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:177250236G>C	uc001glf.2	+	8	2236	c.1924G>C	c.(1924-1926)GTT>CTT	p.V642L	FAM5B_uc001glg.2_Missense_Mutation_p.V537L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	642						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTTTGAGACAGTTCATGTTTA	0.483000												
CFH	3075	broad.mit.edu	37	1	196659341	196659341	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:196659341G>C	uc001gtj.3	+	9	1548	c.1308G>C	c.(1306-1308)TGG>TGC	p.W436C	CFH_uc001gti.3_Missense_Mutation_p.W436C|CFH_uc009wyw.2_Missense_Mutation_p.W411C|CFH_uc009wyx.2_Missense_Mutation_p.W372C	NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	436	Sushi 7.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AGAATGGCTGGTCTCCTACTC	0.438000												
NFASC	23114	broad.mit.edu	37	1	204945883	204945883	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:204945883G>C	uc001hbj.2	+	16	2119	c.1791G>C	c.(1789-1791)GAG>GAC	p.E597D	NFASC_uc001hbh.2_Missense_Mutation_p.E597D|NFASC_uc010pqz.1_Missense_Mutation_p.E591D|NFASC_uc010pra.1_Missense_Mutation_p.E608D|NFASC_uc001hbi.2_Missense_Mutation_p.E608D|NFASC_uc010prb.1_Missense_Mutation_p.E608D|NFASC_uc010prc.1_Missense_Mutation_p.E164D|NFASC_uc001hbk.1_Missense_Mutation_p.E418D	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	597	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)			CCAGCACCGAGCTAGACCAAG	0.617000												
LYPLAL1	127018	broad.mit.edu	37	1	219366473	219366473	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:219366473T>C	uc001hlq.3	+	3	282	c.241T>C	c.(241-243)TTT>CTT	p.F81L	LYPLAL1_uc001hlr.3_Missense_Mutation_p.F65L|LYPLAL1_uc001hls.3_Intron|LYPLAL1_uc001hlt.3_Intron|LYPLAL1_uc009xds.2_Intron	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	81						cytoplasm	lysophospholipase activity				0				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GTTTGACAGATTTAAAATAAC	0.373000												
GUK1	2987	broad.mit.edu	37	1	228333735	228333735	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:228333735A>G	uc001hsh.2	+	4	424	c.121A>G	c.(121-123)AGG>GGG	p.R41G	GUK1_uc001hsi.2_Missense_Mutation_p.R62G|GUK1_uc001hsj.2_5'UTR|GUK1_uc010pvv.1_Missense_Mutation_p.R41G	NM_000858	NP_000849	Q16774	KGUA_HUMAN	guanylate kinase 1 isoform b	41	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity				0		Prostate(94;0.0405)				AGATACCACGAGGAACCCGAG	0.672000												
TAF5L	27097	broad.mit.edu	37	1	229730770	229730770	+	Silent	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:229730770C>G	uc001htq.2	-	5	1210	c.1044G>C	c.(1042-1044)ACG>ACC	p.T348T		NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	348	WD 2.				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)				CGAGGAACCTCGTGCTGTACA	0.542000												
RBM34	23029	broad.mit.edu	37	1	235324532	235324532	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:235324532C>G	uc001hwn.2	-	1	40	c.10G>C	c.(10-12)GAA>CAA	p.E4Q	RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.E4Q	NM_015014	NP_055829	P42696	RBM34_HUMAN	RNA binding motif protein 34 isoform 1	4						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)			CTCATCCCTTCCAAGGCCATT	0.627000												
ARID4B	51742	broad.mit.edu	37	1	235377164	235377164	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:235377164C>A	uc001hwq.2	-	17	2259	c.1761G>T	c.(1759-1761)ATG>ATT	p.M587I	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.M268I	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	587					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)			TAGCTTCATACATTTTTTGAT	0.398000												
LYST	1130	broad.mit.edu	37	1	235866229	235866229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:235866229G>A	uc001hxj.2	-	45	10367	c.10192C>T	c.(10192-10194)CGA>TGA	p.R3398*	LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	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)			TCTAGCGCTCGTCTCTGAACT	0.453000									Chediak-Higashi_syndrome			
CEP170	9859	broad.mit.edu	37	1	243289777	243289777	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:243289777C>T	uc001hzs.2	-	20	5137	c.4729G>A	c.(4729-4731)GAG>AAG	p.E1577K	CEP170_uc001hzt.2_Missense_Mutation_p.E1453K|CEP170_uc001hzu.2_Missense_Mutation_p.E1479K|CEP170_uc001hzr.2_Missense_Mutation_p.E166K|CEP170_uc001hzv.1_Intron	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	1577	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)			ACATCTTCCTCTTCCCCATCG	0.403000												
ALOX5	240	broad.mit.edu	37	10	45938620	45938620	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:45938620C>T	uc001jce.2	+	10	1506	c.1407C>T	c.(1405-1407)TAC>TAT	p.Y469Y	ALOX5_uc009xmt.2_Silent_p.Y437Y|ALOX5_uc010qfg.1_Silent_p.Y469Y	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	469	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)	TCCCCTACTACTTCTACCGGG	0.652000												
SLC16A9	220963	broad.mit.edu	37	10	61432609	61432609	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:61432609A>C	uc010qig.1	-	3	708	c.259T>G	c.(259-261)TTC>GTC	p.F87V		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	87	Helical; (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3						GCCACCATGAAGCCACTGAAG	0.418000												
RHOBTB1	9886	broad.mit.edu	37	10	62631340	62631340	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:62631340T>G	uc001jli.2	-	12	2429	c.1991A>C	c.(1990-1992)CAG>CCG	p.Q664P	RHOBTB1_uc001jlh.2_Missense_Mutation_p.Q664P|RHOBTB1_uc001jlj.2_Missense_Mutation_p.Q664P|RHOBTB1_uc001jlk.2_Missense_Mutation_p.Q664P|RHOBTB1_uc009xpe.1_Missense_Mutation_p.Q602P|RHOBTB1_uc009xpd.2_3'UTR|RHOBTB1_uc001jll.2_Missense_Mutation_p.Q414P	NM_014836	NP_055651	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	664					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)					TTTCACACGCTGGTAGTGATC	0.502000												
CUTC	51076	broad.mit.edu	37	10	101502973	101502973	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:101502973G>A	uc001kqd.3	+	4	405	c.257G>A	c.(256-258)GGA>GAA	p.G86E	CUTC_uc010qpk.1_Missense_Mutation_p.G86E|CUTC_uc001kqe.3_RNA	NM_015960	NP_057044	Q9NTM9	CUTC_HUMAN	cutC copper transporter homolog	86					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)		CGGCCACGGGGAGGTGATTTT	0.418000												
NEURL	9148	broad.mit.edu	37	10	105349314	105349314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:105349314C>A	uc001kxh.2	+	5	1793	c.1383C>A	c.(1381-1383)TGC>TGA	p.C461*	SH3PXD2A_uc010qqr.1_Intron	NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	461					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)		CACTCCCCTGCTCCCCTGCCT	0.662000												
HSPA12A	259217	broad.mit.edu	37	10	118434408	118434408	+	Missense_Mutation	SNP	C	C	T	rs41284376		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:118434408C>T	uc001lct.2	-	12	2017	c.1912G>A	c.(1912-1914)GCC>ACC	p.A638T	HSPA12A_uc001lcu.2_Missense_Mutation_p.A555T	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	638							ATP binding			ovary(1)	1				all cancers(201;0.0158)		TCCCTCCGGGCGGGCACCGCA	0.577000												
PDZD8	118987	broad.mit.edu	37	10	119043502	119043502	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:119043502T>G	uc001lde.1	-	5	2941	c.2742A>C	c.(2740-2742)TTA>TTC	p.L914F		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	914					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		GAGGCAGGCCTAAGAGGGTTT	0.418000												
TACC2	10579	broad.mit.edu	37	10	123845760	123845760	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr10:123845760G>A	uc001lfv.2	+	4	4105	c.3745G>A	c.(3745-3747)GAA>AAA	p.E1249K	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E1249K|TACC2_uc010qtv.1_Missense_Mutation_p.E1249K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	1249						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)				GAGAGGAGCAGAAGACAGTGG	0.597000												
PAMR1	25891	broad.mit.edu	37	11	35492330	35492330	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:35492330G>A	uc001mwg.2	-	5	574	c.531C>T	c.(529-531)TGC>TGT	p.C177C	PAMR1_uc001mwf.2_Silent_p.C177C|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.C137C	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	177	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						AGTCATACTGGCACATGTAGT	0.562000												
CRY2	1408	broad.mit.edu	37	11	45891339	45891339	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:45891339C>T	uc010rgn.1	+	7	1250	c.1228C>T	c.(1228-1230)CTC>TTC	p.L410F	CRY2_uc009ykw.2_Missense_Mutation_p.L328F|CRY2_uc010rgo.1_Missense_Mutation_p.L132F	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	389	FAD-binding.				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						CCGCGGGGACCTCTGGGTCAG	0.647000												
MAPK8IP1	9479	broad.mit.edu	37	11	45926588	45926588	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:45926588A>C	uc001nbr.2	+	10	2130	c.1960A>C	c.(1960-1962)AAC>CAC	p.N654H		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting	654	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			ovary(2)|breast(1)|skin(1)	4				GBM - Glioblastoma multiforme(35;0.231)		TCCAAAGAACAACAAGTAAGT	0.542000												
KIAA0652	9776	broad.mit.edu	37	11	46671862	46671862	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:46671862A>C	uc009yld.2	+	7	1137	c.453A>C	c.(451-453)TTA>TTC	p.L151F	KIAA0652_uc001nda.2_Missense_Mutation_p.L151F|KIAA0652_uc001ndb.2_Missense_Mutation_p.L151F|KIAA0652_uc001ncz.2_Missense_Mutation_p.L151F|KIAA0652_uc001ndc.2_Missense_Mutation_p.L151F|KIAA0652_uc010rgv.1_Missense_Mutation_p.L72F	NM_001142673	NP_001136145	O75143	ATG13_HUMAN	autophagy-related protein 13 isoform 1	151					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding				0				GBM - Glioblastoma multiforme(35;0.226)		ATGTCATATTATACAGGTAAA	0.423000												
OR5M8	219484	broad.mit.edu	37	11	56257957	56257957	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:56257957T>A	uc001nix.1	-	1	890	c.890A>T	c.(889-891)AAA>ATA	p.K297I		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					TAATGCTTCTTTTACATTTTT	0.308000												
ZDHHC5	25921	broad.mit.edu	37	11	57457633	57457633	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:57457633T>A	uc001nkx.1	+	5	1771	c.515T>A	c.(514-516)CTC>CAC	p.L172H	ZDHHC5_uc001nky.1_Missense_Mutation_p.L119H|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	172						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CTTTATGTCCTCTACCACATA	0.498000												
OR5A1	219982	broad.mit.edu	37	11	59210971	59210971	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:59210971G>A	uc001nnx.1	+	1	330	c.330G>A	c.(328-330)ATG>ATA	p.M110I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						TTGTCGGCATGGGTCTGTCTG	0.527000												
SLC22A9	114571	broad.mit.edu	37	11	63141464	63141464	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:63141464G>C	uc001nww.2	+	4	1028	c.760G>C	c.(760-762)GCC>CCC	p.A254P	SLC22A9_uc001nwx.2_RNA	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion/cation	254	Helical; (Potential).				transmembrane transport	integral to membrane				breast(2)|large_intestine(1)	3						CCTGGCTTTTGCCATTCGAGA	0.468000												
SUV420H1	51111	broad.mit.edu	37	11	67947642	67947642	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:67947642G>T	uc001onm.1	-	4	590	c.334C>A	c.(334-336)CAT>AAT	p.H112N	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.H112N|SUV420H1_uc001onp.2_Missense_Mutation_p.H112N|SUV420H1_uc010rqa.1_Intron|SUV420H1_uc001onq.2_Missense_Mutation_p.H112N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						tttgaaaaatgccttgagctc	0.134000												
CPT1A	1374	broad.mit.edu	37	11	68582853	68582853	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:68582853T>A	uc001oog.3	-	2	260	c.90A>T	c.(88-90)CAA>CAT	p.Q30H	CPT1A_uc001oof.3_Missense_Mutation_p.Q30H|CPT1A_uc009ysj.2_Missense_Mutation_p.Q30H	NM_001876	NP_001867	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A liver isoform	30	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)	AGAGATAGATTTGTCTAAGAG	0.438000												
WNT11	7481	broad.mit.edu	37	11	75898212	75898212	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:75898212T>C	uc001oxe.2	-	5	1085	c.962A>G	c.(961-963)TAC>TGC	p.Y321C		NM_004626	NP_004617	O96014	WNT11_HUMAN	wingless-type MMTV integration site family,	321					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						GCGGTCTGTGTAGGGGTTGTA	0.602000												
CWF19L2	143884	broad.mit.edu	37	11	107197652	107197652	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:107197652T>A	uc010rvp.1	-	18	2699	c.2669A>T	c.(2668-2670)AAA>ATA	p.K890I	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	890							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)		GTTTTTACTTTTGGTGAAGTC	0.403000												
BTG4	54766	broad.mit.edu	37	11	111366030	111366030	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:111366030A>C	uc001plj.2	-	5	705	c.520T>G	c.(520-522)TTG>GTG	p.L174V		NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	174					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation						0		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		GGCTGTTTCAAGTTTTCAACC	0.413000												
FDXACB1	91893	broad.mit.edu	37	11	111749799	111749799	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:111749799G>A	uc001pmc.3	-	1	355	c.58C>T	c.(58-60)CTG>TTG	p.L20L	ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_5'UTR|C11orf1_uc001pmd.2_5'Flank|C11orf1_uc001pme.2_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain	20					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding				0						GTTTCGCTCAGAGCGGCGGCG	0.657000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
APOA5	116519	broad.mit.edu	37	11	116661139	116661139	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:116661139C>A	uc001ppr.2	-	3	814	c.806G>T	c.(805-807)GGG>GTG	p.G269V	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.G269V|APOA5_uc009yzf.2_Missense_Mutation_p.G269V|APOA5_uc009yzg.2_Missense_Mutation_p.G295V	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	269					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)		CGGGCCGGCCCCTTCCTCAGT	0.657000												
DSCAML1	57453	broad.mit.edu	37	11	117299141	117299141	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:117299141C>T	uc001prh.1	-	33	6247	c.6245G>A	c.(6244-6246)GGC>GAC	p.G2082D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2022	Cytoplasmic (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)		GTCCCTGGAGCCCCCCATTTT	0.701000												
TECTA	7007	broad.mit.edu	37	11	120998579	120998579	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:120998579C>T	uc010rzo.1	+	8	1893	c.1893C>T	c.(1891-1893)TGC>TGT	p.C631C		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	631	TIL 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)		CAGAGGGCTGCGAGTGCAACC	0.647000												
BSX	390259	broad.mit.edu	37	11	122848402	122848402	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:122848402G>A	uc010rzs.1	-	3	657	c.657C>T	c.(655-657)GAC>GAT	p.D219D		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	219											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)		CGTCTCCAATGTCCACCTCGT	0.736000												
OR6M1	390261	broad.mit.edu	37	11	123676812	123676812	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:123676812G>A	uc010rzz.1	-	1	246	c.246C>T	c.(244-246)TGC>TGT	p.C82C		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	82	Extracellular (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)		CTCCTAGGAGGCAGGCCAACA	0.433000												
ACRV1	56	broad.mit.edu	37	11	125547724	125547724	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr11:125547724G>A	uc001qcs.2	-	2	788	c.521C>T	c.(520-522)GCT>GTT	p.A174V	ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Missense_Mutation_p.A104V|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.A119V|ACRV1_uc001qco.2_Missense_Mutation_p.A79V|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Missense_Mutation_p.A104V|ACRV1_uc001qcr.2_Intron	NM_001612	NP_001603	P26436	ASPX_HUMAN	acrosomal vesicle protein 1 isoform a precursor	174	3-9.|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)		TGCACCTGAAGCCTGTTCCCC	0.532000												
IQSEC3	440073	broad.mit.edu	37	12	280291	280291	+	Silent	SNP	C	C	G	rs151163146	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:280291C>G	uc001qhw.1	+	10	2175	c.2169C>G	c.(2167-2169)GCC>GCG	p.A723A	IQSEC3_uc001qhu.1_Silent_p.A723A	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1026					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)		AAAGGGAAGCCGCGCTCAGGG	0.622000												
CACNA1C	775	broad.mit.edu	37	12	2795345	2795345	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:2795345C>T	uc009zdu.1	+	48	6256	c.5943C>T	c.(5941-5943)TCC>TCT	p.S1981S	CACNA1C_uc009zdv.1_Silent_p.S1895S|CACNA1C_uc001qkb.2_Silent_p.S1898S|CACNA1C_uc001qkc.2_Silent_p.S1917S|CACNA1C_uc001qke.2_Silent_p.S1887S|CACNA1C_uc001qkf.2_Silent_p.S1906S|CACNA1C_uc001qjz.2_Silent_p.S1898S|CACNA1C_uc001qkd.2_Silent_p.S1917S|CACNA1C_uc001qkg.2_Silent_p.S1904S|CACNA1C_uc009zdw.1_Silent_p.S1939S|CACNA1C_uc001qkh.2_Silent_p.S1906S|CACNA1C_uc001qkl.2_Silent_p.S1946S|CACNA1C_uc001qkn.2_Silent_p.S1898S|CACNA1C_uc001qko.2_Silent_p.S1918S|CACNA1C_uc001qkp.2_Silent_p.S1898S|CACNA1C_uc001qkr.2_Silent_p.S1915S|CACNA1C_uc001qku.2_Silent_p.S1933S|CACNA1C_uc001qkq.2_Silent_p.S1926S|CACNA1C_uc001qks.2_Silent_p.S1898S|CACNA1C_uc001qkt.2_Silent_p.S1917S|CACNA1C_uc001qki.1_Silent_p.S1705S|CACNA1C_uc001qkj.1_Silent_p.S1669S|CACNA1C_uc001qkk.1_Silent_p.S1634S|CACNA1C_uc001qkm.1_Silent_p.S1694S|CACNA1C_uc010sea.1_Silent_p.S589S|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.S216S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1981	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)	GAAGGGCCTCCTTCCACCTGG	0.577000												
ZNF705A	440077	broad.mit.edu	37	12	8329733	8329733	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:8329733C>A	uc001qud.1	+	5	529	c.457C>A	c.(457-459)CTT>ATT	p.L153I		NM_001004328	NP_001004328	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				Kidney(36;0.0877)		TGGAAAATCTCTTCGTAATCT	0.368000												
IPO8	10526	broad.mit.edu	37	12	30834694	30834694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:30834694C>T	uc001rjd.2	-	4	551	c.381G>A	c.(379-381)TGG>TGA	p.W127*		NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	127					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)					CCACTCCTGGCCAGTGACCAG	0.403000												
DDX23	9416	broad.mit.edu	37	12	49226289	49226289	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:49226289G>C	uc001rsm.2	-	14	1962	c.1871C>G	c.(1870-1872)CCT>CGT	p.P624R		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	624	Helicase ATP-binding.					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						CACCACAGCAGGTCGCCGAAG	0.587000												
KRT73	319101	broad.mit.edu	37	12	53007514	53007514	+	Silent	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:53007514G>C	uc001sas.2	-	5	977	c.942C>G	c.(940-942)GCC>GCG	p.A314A		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	314	Rod.|Coil 2.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCTTCCGGGCGATCTCCT	0.587000												
TPH2	121278	broad.mit.edu	37	12	72425323	72425323	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:72425323C>T	uc009zrw.1	+	11	1462	c.1321C>T	c.(1321-1323)CGT>TGT	p.R441C	TPH2_uc001swy.2_Missense_Mutation_p.R351C	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	441			R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity).		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)	GTCAATTACCCGTCCCTTCTC	0.418000												
KCNC2	3747	broad.mit.edu	37	12	75444690	75444690	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:75444690A>T	uc001sxg.1	-	3	1639	c.1095T>A	c.(1093-1095)TTT>TTA	p.F365L	KCNC2_uc009zry.2_Missense_Mutation_p.F365L|KCNC2_uc001sxe.2_Missense_Mutation_p.F365L|KCNC2_uc001sxf.2_Missense_Mutation_p.F365L|KCNC2_uc010stw.1_Missense_Mutation_p.F365L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	365	Helical; Voltage-sensor; Name=Segment S4; (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						TCAGACCTACAAAATGGCGGG	0.448000												
ACSS3	79611	broad.mit.edu	37	12	81647273	81647273	+	Splice_Site	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:81647273G>C	uc001szl.1	+	15	1911	c.1820_splice	c.e15-1	p.D607_splice	ACSS3_uc001szm.1_Splice_Site_p.D606_splice|ACSS3_uc001szn.1_Splice_Site_p.D289_splice	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						TTTCTCTCTAGATATAAATGC	0.388000												
ATXN2	6311	broad.mit.edu	37	12	111990188	111990188	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr12:111990188C>T	uc001tsj.2	-	5	1109	c.947G>A	c.(946-948)AGT>AAT	p.S316N	ATXN2_uc001tsh.2_Missense_Mutation_p.S51N|ATXN2_uc001tsi.2_Missense_Mutation_p.S27N|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.S51N	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	316					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						CGGCCCCGAACTGGATTCTGT	0.348000												
DIAPH3	81624	broad.mit.edu	37	13	60545039	60545039	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:60545039G>C	uc001vht.2	-	16	2125	c.1906C>G	c.(1906-1908)CCA>GCA	p.P636A	DIAPH3_uc001vhu.2_Missense_Mutation_p.P373A|DIAPH3_uc001vhv.2_Missense_Mutation_p.P214A	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	636	FH2.|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)		TCTTTCTTTGGTTTCAACCCA	0.403000												
SLITRK6	84189	broad.mit.edu	37	13	86370114	86370114	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:86370114G>A	uc001vll.1	-	2	989	c.530C>T	c.(529-531)CCA>CTA	p.P177L	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	177	LRR 4.|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)		GAAGATGTTTGGAGGAAGACT	0.363000												
NALCN	259232	broad.mit.edu	37	13	101720273	101720273	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:101720273T>A	uc001vox.1	-	39	4632	c.4443A>T	c.(4441-4443)AGA>AGT	p.R1481S		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1481	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)					CCCATACCTCTCTTTTATCAT	0.388000												
TNFSF13B	10673	broad.mit.edu	37	13	108922355	108922355	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:108922355T>G	uc001vqr.2	+	1	379	c.112T>G	c.(112-114)TCT>GCT	p.S38A	TNFSF13B_uc010agj.2_Missense_Mutation_p.S38A	NM_006573	NP_006564	Q9Y275	TN13B_HUMAN	tumor necrosis factor superfamily, member 13b	38	Cytoplasmic (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)			GGAAAGCCCCTCTGTCCGATC	0.537000												
MCF2L	23263	broad.mit.edu	37	13	113733042	113733042	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:113733042C>T	uc001vsu.2	+	15	1990	c.1968C>T	c.(1966-1968)GCC>GCT	p.A656A	MCF2L_uc001vsq.2_Silent_p.A656A|MCF2L_uc010tjr.1_Silent_p.A599A|MCF2L_uc001vsr.2_Silent_p.A603A|MCF2L_uc001vss.3_Silent_p.A597A|MCF2L_uc010tjs.1_Silent_p.A597A|MCF2L_uc001vst.1_Silent_p.A561A	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	629					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)				AAAGCCTGGCCATCCTGCGCA	0.657000												
PCID2	55795	broad.mit.edu	37	13	113834471	113834471	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr13:113834471C>A	uc010tju.1	-	11	941	c.860_splice	c.e11+1	p.S287_splice	PCID2_uc001vtb.2_Splice_Site_p.S120_splice|PCID2_uc010tjv.1_Splice_Site_p.S287_splice|PCID2_uc010tjw.1_Splice_Site_p.S287_splice|PCID2_uc001vte.2_Splice_Site_p.S180_splice|PCID2_uc001vtd.2_Splice_Site_p.S180_splice|PCID2_uc001vtf.2_Splice_Site_p.S180_splice	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						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)			GCATACTCTACCTCACAGCTC	0.483000												
GZMB	3002	broad.mit.edu	37	14	25101228	25101228	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:25101228C>T	uc001wps.2	-	4	502	c.436G>A	c.(436-438)GGC>AGC	p.G146S	GZMB_uc010ama.2_Missense_Mutation_p.G134S|GZMB_uc010amb.2_RNA	NM_004131	NP_004122	P10144	GRAB_HUMAN	granzyme B precursor	146	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)		TGCCCCCAGCCGGCCACACTG	0.592000												
FOXG1	2290	broad.mit.edu	37	14	29237432	29237432	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:29237432T>C	uc001wqe.2	+	1	1146	c.947T>C	c.(946-948)CTG>CCG	p.L316P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	forkhead box G1	316				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)		TTCCTGTCCCTGCACCACCCC	0.662000												
NPAS3	64067	broad.mit.edu	37	14	34269574	34269574	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:34269574C>A	uc001wru.2	+	12	2125	c.2061C>A	c.(2059-2061)AGC>AGA	p.S687R	NPAS3_uc001wrs.2_Missense_Mutation_p.S674R|NPAS3_uc001wrt.2_Missense_Mutation_p.S655R|NPAS3_uc001wrv.2_Missense_Mutation_p.S657R	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	687					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)		AGCCCCCCAGCTCTGAGCACT	0.617000												
SIP1	8487	broad.mit.edu	37	14	39583510	39583510	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:39583510A>T	uc001wuq.2	+	1	23	c.1A>T	c.(1-3)ATG>TTG	p.M1L	SIP1_uc001wur.2_Missense_Mutation_p.M1L|SIP1_uc001wus.2_Missense_Mutation_p.M1L|SIP1_uc010amx.2_RNA	NM_003616	NP_003607	O14893	GEMI2_HUMAN	SMN-interacting protein 1 isoform alpha	1					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)		GAATGGGCGCATGCGCCGAGC	0.567000												
RTN1	6252	broad.mit.edu	37	14	60213055	60213055	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:60213055T>C	uc001xen.1	-	2	595	c.386A>G	c.(385-387)AAG>AGG	p.K129R		NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	129					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCCATTTTCCTTCTGAAGAAT	0.478000												
ACYP1	97	broad.mit.edu	37	14	75520211	75520211	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:75520211G>A	uc001xrg.2	-	3	324	c.236C>T	c.(235-237)GCA>GTA	p.A79V	MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.2_3'UTR	NM_001107	NP_001098	P07311	ACYP1_HUMAN	acylphosphatase 1 isoform a	79	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00646)		GTTGAAGTTTGCTTTGTCGAT	0.393000												
CCDC88C	440193	broad.mit.edu	37	14	91791123	91791123	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:91791123C>A	uc010aty.2	-	12	1441	c.1342G>T	c.(1342-1344)GCC>TCC	p.A448S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	448					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)				CGCTACCTACCGTCTGACAAG	0.607000												
ATG2B	55102	broad.mit.edu	37	14	96798640	96798640	+	Splice_Site	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:96798640A>T	uc001yfi.2	-	10	1833	c.1468_splice	c.e10+1	p.S490_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B											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)		ATTTTTACTTACATGTCTTCT	0.378000												
TRMT61A	115708	broad.mit.edu	37	14	103996627	103996627	+	Silent	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:103996627C>A	uc001yng.2	+	2	431	c.312C>A	c.(310-312)GGC>GGA	p.G104G	TRMT61A_uc010aws.2_Intron	NM_152307	NP_689520	Q96FX7	TRM61_HUMAN	tRNA(m1A58)-methyltransferase subunit TRM61	104						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity				0						TTCGGCCCGGCTCTGTGGTCT	0.592000												
C14orf80	283643	broad.mit.edu	37	14	105960171	105960171	+	Splice_Site	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:105960171G>C	uc001yrm.2	+	5	713	c.586_splice	c.e5-1	p.I196_splice	C14orf80_uc001yrj.2_Intron|C14orf80_uc001yrk.2_Intron|C14orf80_uc001yrn.2_Splice_Site_p.I196_splice|C14orf80_uc001yro.2_Intron|C14orf80_uc010tys.1_Splice_Site_p.I18_splice	NM_001134875	NP_001128347	Q86SX3	CN080_HUMAN	hypothetical protein LOC283643 isoform 1												0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		ACCTGTTTTAGATCCACCTGT	0.607000												
OR4N4	283694	broad.mit.edu	37	15	22382673	22382673	+	Silent	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:22382673C>A	uc001yuc.1	+	7	1182	c.201C>A	c.(199-201)GCC>GCA	p.A67A	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.A67A	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	67	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)		GCAACTTGGCCTTCCTGGATG	0.483000												
EXD1	161829	broad.mit.edu	37	15	41482139	41482139	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:41482139G>A	uc001znk.2	-	9	1069	c.878C>T	c.(877-879)ACT>ATT	p.T293I	EXD1_uc001znj.2_Missense_Mutation_p.T91I|EXD1_uc010ucv.1_Missense_Mutation_p.T351I	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	293					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1						ACCTACCTCAGTGCCTCCAAG	0.517000												
SPTBN5	51332	broad.mit.edu	37	15	42171635	42171635	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:42171635A>G	uc001zos.2	-	16	3233	c.2900T>C	c.(2899-2901)GTG>GCG	p.V967A		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1002					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)		AAAACTGCACACTTCCACACT	0.632000												
CCNDBP1	23582	broad.mit.edu	37	15	43483628	43483628	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:43483628G>T	uc001zqv.2	+	8	846	c.615G>T	c.(613-615)TTG>TTT	p.L205F	CCNDBP1_uc001zqu.2_Missense_Mutation_p.L77F|CCNDBP1_uc010bdc.2_Missense_Mutation_p.L205F|CCNDBP1_uc010bdb.2_Missense_Mutation_p.L77F|CCNDBP1_uc010udl.1_Missense_Mutation_p.L44F|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Missense_Mutation_p.L77F|CCNDBP1_uc010bdd.2_Missense_Mutation_p.L77F|CCNDBP1_uc001zqy.2_Missense_Mutation_p.L77F	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	205	Required for interaction with CCND1.|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)		CTGGCCTCTTGAATGATACTG	0.413000												
TGM7	116179	broad.mit.edu	37	15	43572086	43572086	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:43572086G>C	uc001zrf.1	-	10	1420	c.1415C>G	c.(1414-1416)GCT>GGT	p.A472G		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	472					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)	GGGCAAAGAAGCTCTTTGGGG	0.592000												
STRC	161497	broad.mit.edu	37	15	43892850	43892850	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:43892850A>T	uc001zsf.2	-	26	4953	c.4875T>A	c.(4873-4875)CAT>CAA	p.H1625Q	STRC_uc010bdl.2_Missense_Mutation_p.H852Q|STRC_uc001zse.2_Missense_Mutation_p.H143Q	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	1625					sensory perception of sound	cell surface					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)		AGCACTGGAGATGCAGGGTGC	0.537000												
ALDH1A2	8854	broad.mit.edu	37	15	58306438	58306438	+	Silent	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:58306438T>C	uc002aex.2	-	2	217	c.159A>G	c.(157-159)AGA>AGG	p.R53R	ALDH1A2_uc002aey.2_Silent_p.R53R|ALDH1A2_uc010ugv.1_Silent_p.R32R|ALDH1A2_uc010ugw.1_Silent_p.R24R|ALDH1A2_uc002aew.2_5'Flank	NM_003888	NP_003879	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1A2 isoform 1	53					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)	CAGGGAACACTCTCCCACTCT	0.423000												
DAPK2	23604	broad.mit.edu	37	15	64200767	64200767	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:64200767G>A	uc002amr.2	-	12	1096	c.1065C>T	c.(1063-1065)ATC>ATT	p.I355I	DAPK2_uc010uim.1_RNA	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	death-associated kinase 2	355					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2				LUAD - Lung adenocarcinoma(2;0.215)		TCCTCCTGGCGATGTCCTCCT	0.617000												
LARP6	55323	broad.mit.edu	37	15	71124440	71124440	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:71124440T>G	uc002ass.2	-	3	1498	c.1427A>C	c.(1426-1428)GAC>GCC	p.D476A		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	476					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						TCTGGTGTTGTCAGGACCCCT	0.527000												
PKM2	5315	broad.mit.edu	37	15	72499084	72499084	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:72499084C>T	uc002atx.1	-	8	1366	c.1125G>A	c.(1123-1125)GTG>GTA	p.V375V	PKM2_uc002ats.1_Silent_p.V42V|PKM2_uc002att.1_Silent_p.V141V|PKM2_uc002atu.1_Silent_p.V141V|PKM2_uc010bit.1_Silent_p.V380V|PKM2_uc010uki.1_Silent_p.V449V|PKM2_uc002atv.1_Silent_p.V410V|PKM2_uc002atw.1_Silent_p.V375V|PKM2_uc002aty.1_Silent_p.V375V|PKM2_uc010ukj.1_Silent_p.V360V|PKM2_uc010ukk.1_Silent_p.V301V|PKM2_uc010biu.1_Silent_p.V396V|PKM2_uc002atz.1_RNA	NM_182471	NP_872271	P14618	KPYM_HUMAN	pyruvate kinase, muscle isoform M1	375	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)	GCTGCATGCGCACAGCCTCCA	0.597000												
CPLX3	594855	broad.mit.edu	37	15	75122677	75122677	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr15:75122677G>T	uc002ayu.1	+	3	553	c.459G>T	c.(457-459)GAG>GAT	p.E153D		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	complexin 3 precursor	153						cell junction|synapse	syntaxin binding				0						AATCAGCTGAGAAGTGTCACG	0.592000												
BAIAP3	8938	broad.mit.edu	37	16	1395887	1395887	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:1395887G>T	uc002clk.1	+	23	2309	c.2309G>T	c.(2308-2310)GGC>GTC	p.G770V	BAIAP3_uc002clj.2_Missense_Mutation_p.G752V|BAIAP3_uc010uuz.1_Missense_Mutation_p.G735V|BAIAP3_uc010uva.1_Missense_Mutation_p.G707V|BAIAP3_uc010uvc.1_Missense_Mutation_p.G699V	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	770	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				ACCCAGCTTGGCCAGGTGTGT	0.706000												
SEZ6L2	26470	broad.mit.edu	37	16	29888680	29888680	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:29888680G>A	uc002duq.3	-	11	2061	c.1821C>T	c.(1819-1821)TCC>TCT	p.S607S	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.S537S|SEZ6L2_uc002dur.3_Silent_p.S537S|SEZ6L2_uc002dus.3_Silent_p.S493S|SEZ6L2_uc010vec.1_Silent_p.S607S|SEZ6L2_uc010ved.1_Silent_p.S563S	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	607	CUB 3.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2						CGGGCCCAGAGGAGAGAAGGC	0.672000												
STX4	6810	broad.mit.edu	37	16	31049878	31049878	+	Silent	SNP	G	G	A	rs114513418	by1000genomes	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:31049878G>A	uc002eal.2	+	8	836	c.612G>A	c.(610-612)TCG>TCA	p.S204S	STX4_uc002eak.2_Silent_p.S202S|STX4_uc002eam.2_Silent_p.S126S	NM_004604	NP_004595	Q12846	STX4_HUMAN	syntaxin 4	204	Cytoplasmic (Potential).|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				0						ATGAGATCTCGGCCCGGCACA	0.572000												
MARVELD3	91862	broad.mit.edu	37	16	71668441	71668441	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:71668441C>A	uc002fat.2	+	3	1004	c.941C>A	c.(940-942)GCG>GAG	p.A314E	MARVELD3_uc002fau.2_Intron|MARVELD3_uc010cge.2_Intron	NM_052858	NP_443090	Q96A59	MALD3_HUMAN	MARVEL domain containing 3 isoform 2	314	MARVEL.|Helical; (Potential).					integral to membrane				skin(1)	1		Ovarian(137;0.125)				ATGCTCATCGCGGGGGGGTAC	0.577000												
ATP2A3	489	broad.mit.edu	37	17	3839595	3839595	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:3839595A>C	uc002fxb.1	-	16	2641	c.2490T>G	c.(2488-2490)AGT>AGG	p.S830R	ATP2A3_uc002fwx.1_Missense_Mutation_p.S830R|ATP2A3_uc002fwy.1_Missense_Mutation_p.S830R|ATP2A3_uc002fwz.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxa.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxc.1_Missense_Mutation_p.S830R|ATP2A3_uc002fxd.1_Missense_Mutation_p.S830R	NM_174955	NP_777615	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous isoform b	830	Helical; Name=7; (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)		AGAGCCAGCCACTGATGAGGG	0.602000												
SPNS2	124976	broad.mit.edu	37	17	4416589	4416589	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:4416589G>A	uc002fxx.2	+	2	632	c.418G>A	c.(418-420)GCC>ACC	p.A140T		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	spinster homolog 2	140					lipid transport|transmembrane transport	integral to membrane					0						GGACCGAGGCGCCGGCCTGCT	0.667000												
NLRP1	22861	broad.mit.edu	37	17	5442791	5442791	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:5442791G>A	uc002gci.2	-	7	3369	c.2814C>T	c.(2812-2814)GGC>GGT	p.G938G	NLRP1_uc002gcg.1_Silent_p.G938G|NLRP1_uc002gck.2_Silent_p.G938G|NLRP1_uc002gcj.2_Silent_p.G938G|NLRP1_uc002gcl.2_Silent_p.G938G|NLRP1_uc002gch.3_Silent_p.G938G|NLRP1_uc010clh.2_Silent_p.G938G	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	938	LRR 5.				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)				GCAGTCGCACGCCAACGTCAT	0.622000												
CHD3	1107	broad.mit.edu	37	17	7794305	7794305	+	Silent	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:7794305G>T	uc002gje.2	+	4	582	c.432G>T	c.(430-432)CTG>CTT	p.L144L	CHD3_uc002gjd.2_Silent_p.L203L|CHD3_uc002gjf.2_Silent_p.L144L|CHD3_uc002gjg.1_5'UTR	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	144					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)				CCTGGGGCCTGGAGGATGTGG	0.552000												
AURKB	9212	broad.mit.edu	37	17	8108360	8108360	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:8108360C>T	uc002gkm.2	-	9	925	c.864G>A	c.(862-864)GTG>GTA	p.V288V	AURKB_uc010cnu.2_Silent_p.V108V|AURKB_uc002gkn.2_Silent_p.V289V|AURKB_uc010vuu.1_Silent_p.V247V|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	288	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						ACTTTAGGTCCACCTGCAGGT	0.557000												
SLC6A4	6532	broad.mit.edu	37	17	28537594	28537594	+	Missense_Mutation	SNP	T	T	C	rs35514331		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:28537594T>C	uc002hey.3	-	11	1932	c.1388A>G	c.(1387-1389)GAG>GGG	p.E463G	SLC6A4_uc010csg.2_RNA	NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	463					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)	CACGAACCGCTCCCGGCGCTT	0.597000												
MSL1	339287	broad.mit.edu	37	17	38282661	38282661	+	Splice_Site	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:38282661T>A	uc002hub.2	+	2	408	c.389_splice	c.e2+2	p.R130_splice	MSL1_uc002hua.3_Splice_Site_p.R68_splice|MSL1_uc002huc.2_Splice_Site_p.R68_splice	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin						histone H4-K16 acetylation	MSL complex					0						ACATAAAAGGTGTGCTGATAA	0.448000												
TNS4	84951	broad.mit.edu	37	17	38645216	38645216	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:38645216T>A	uc010cxb.2	-	3	609	c.445A>T	c.(445-447)AAG>TAG	p.K149*		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	149					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)			TCGATGTACTTTATGTCTTTG	0.443000												
KRT9	3857	broad.mit.edu	37	17	39728197	39728197	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:39728197C>T	uc002hxe.3	-	1	114	c.48G>A	c.(46-48)GGG>GGA	p.G16G	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	16	Poly-Gly.|Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				CCCCGCCACCCCCGCCGCTGC	0.647000												
RUNDC3A	10900	broad.mit.edu	37	17	42392111	42392111	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:42392111A>G	uc002igl.3	+	5	741	c.467A>G	c.(466-468)TAT>TGT	p.Y156C	RUNDC3A_uc002igi.2_Missense_Mutation_p.Y156C|RUNDC3A_uc002igj.2_Missense_Mutation_p.Y151C|RUNDC3A_uc002igk.2_Missense_Mutation_p.Y152C	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A isoform 1	156	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)		AGACGGTTCTATGACTCTGGA	0.642000												
HIGD1B	51751	broad.mit.edu	37	17	42926756	42926756	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:42926756G>C	uc002ihm.2	+	2	477	c.235G>C	c.(235-237)GGT>CGT	p.G79R		NM_016438	NP_057522	Q9P298	HIG1B_HUMAN	HIG1 hypoxia inducible domain family, member 1B	79	HIG1.|Helical; (Potential).					integral to membrane					0		Prostate(33;0.109)				AATCATGCTAGGTGAGTAGCT	0.483000												
KIF18B	146909	broad.mit.edu	37	17	43005443	43005443	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:43005443C>G	uc010wji.1	-	13	2337	c.2236G>C	c.(2236-2238)GAC>CAC	p.D746H	KIF18B_uc002iht.2_Missense_Mutation_p.D755H|KIF18B_uc010wjh.1_Missense_Mutation_p.D743H	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				GGTATTTTGTCCCAGCCAATG	0.602000												
UTP18	51096	broad.mit.edu	37	17	49354532	49354532	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:49354532G>C	uc002its.2	+	7	928	c.879G>C	c.(877-879)TTG>TTC	p.L293F		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component	293	WD 2.				rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCATCTATTTGGAAAGGTTTC	0.383000												
KIF2B	84643	broad.mit.edu	37	17	51900950	51900950	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:51900950G>A	uc002iua.2	+	1	712	c.556G>A	c.(556-558)GAA>AAA	p.E186K	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	186					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						CCCCAACTACGAAATCATGCA	0.567000												
HEATR6	63897	broad.mit.edu	37	17	58123518	58123518	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:58123518T>G	uc002iyk.1	-	19	2859	c.2842A>C	c.(2842-2844)ACA>CCA	p.T948P	HEATR6_uc010ddk.1_Missense_Mutation_p.T487P|HEATR6_uc010wos.1_Missense_Mutation_p.T668P	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	948							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)			TCTGCAAATGTGGGTTTTTCT	0.398000												
DDX5	1655	broad.mit.edu	37	17	62496077	62496077	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:62496077C>T	uc002jek.2	-	13	2056	c.1809G>A	c.(1807-1809)ATG>ATA	p.M603I	POLG2_uc002jei.2_5'Flank|POLG2_uc010deg.1_5'Flank|DDX5_uc010deh.2_Missense_Mutation_p.M603I|DDX5_uc002jej.2_Missense_Mutation_p.M498I|DDX5_uc010wqa.1_Missense_Mutation_p.M524I	NM_004396	NP_004387	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5	603					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)			GATAACCAATCATAGGTGCAG	0.363000			T	ETV4	prostate							
AXIN2	8313	broad.mit.edu	37	17	63554148	63554148	+	Silent	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:63554148G>C	uc002jfi.2	-	2	880	c.591C>G	c.(589-591)CTC>CTG	p.L197L	AXIN2_uc010den.1_Silent_p.L197L|AXIN2_uc002jfh.2_Silent_p.L197L|AXIN2_uc002jfj.1_Silent_p.L197L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	197	RGS.				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						TCACATATTCGAGGTATATAT	0.483000									Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome			
BPTF	2186	broad.mit.edu	37	17	65862627	65862627	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:65862627G>C	uc002jgf.2	+	3	1545	c.1484G>C	c.(1483-1485)AGC>ACC	p.S495T	BPTF_uc002jge.2_Missense_Mutation_p.S495T|BPTF_uc010wqm.1_Missense_Mutation_p.S495T	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	495					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)			TGGTATTACAGCACAAAGGTC	0.333000												
ABCA8	10351	broad.mit.edu	37	17	66929370	66929370	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:66929370G>C	uc002jhp.2	-	5	688	c.509C>G	c.(508-510)TCA>TGA	p.S170*	ABCA8_uc002jhq.2_Nonsense_Mutation_p.S170*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.S170*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.S109*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.S170*|ABCA8_uc002jhs.2_Nonsense_Mutation_p.S170*|ABCA8_uc002jht.2_Nonsense_Mutation_p.S170*	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	170						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)					CCAAAATACTGAAACTTCACA	0.299000												
AZI1	22994	broad.mit.edu	37	17	79180992	79180992	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:79180992C>G	uc002jzp.1	-	4	520	c.320G>C	c.(319-321)AGT>ACT	p.S107T	AZI1_uc002jzn.1_Missense_Mutation_p.S107T|AZI1_uc002jzo.1_Missense_Mutation_p.S107T|AZI1_uc010wum.1_Missense_Mutation_p.S107T	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	107					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)			CTTTTTCCCACTGGGGCTGCC	0.647000												
SLC38A10	124565	broad.mit.edu	37	17	79226981	79226981	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:79226981C>G	uc002jzz.1	-	12	1723	c.1348G>C	c.(1348-1350)GAG>CAG	p.E450Q	SLC38A10_uc002jzy.1_Missense_Mutation_p.E368Q|SLC38A10_uc002kab.2_Missense_Mutation_p.E450Q	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	450					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)			TCCTCTCTCTCCTTCGGCAGC	0.657000											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMAD7	4092	broad.mit.edu	37	18	46476217	46476217	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr18:46476217C>T	uc002ldg.2	-	1	865	c.578G>A	c.(577-579)TGC>TAC	p.C193Y	SMAD7_uc010xde.1_5'Flank	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	193	MH1.				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)					ATGGGGGTTGCAGCACACCAG	0.557000											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C19orf29	58509	broad.mit.edu	37	19	3613108	3613108	+	Silent	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:3613108C>A	uc002lyh.2	-	9	1787	c.1734G>T	c.(1732-1734)CCG>CCT	p.P578P	C19orf29_uc010xho.1_Silent_p.P37P|C19orf29_uc010dtn.2_Silent_p.P426P|C19orf29_uc002lyi.3_Silent_p.P578P|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	578						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)		GGTCCTCATCCGGTTCCAGCA	0.711000												
DAPK3	1613	broad.mit.edu	37	19	3969677	3969677	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:3969677C>T	uc002lzc.1	-	1	150	c.57G>A	c.(55-57)CTG>CTA	p.L19L	DAPK3_uc002lzd.1_Silent_p.L19L	NM_001348	NP_001339	O43293	DAPK3_HUMAN	death-associated protein kinase 3	19	ATP (By similarity).|Protein kinase.				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)		CTCACCTGCCCAGCTCCTCCC	0.607000											OREG0025158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PTPRS	5802	broad.mit.edu	37	19	5212247	5212247	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:5212247C>T	uc002mbv.2	-	32	5018	c.4784G>A	c.(4783-4785)CGC>CAC	p.R1595H	PTPRS_uc002mbu.1_Missense_Mutation_p.R1164H|PTPRS_uc010xin.1_Missense_Mutation_p.R1137H|PTPRS_uc002mbw.2_Missense_Mutation_p.R1557H|PTPRS_uc002mbx.2_Missense_Mutation_p.R1152H|PTPRS_uc002mby.2_Missense_Mutation_p.R1148H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1595	Substrate binding (By similarity).|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)		GCAGCCTGTGCGGCCCACACC	0.652000												
FBN3	84467	broad.mit.edu	37	19	8203127	8203127	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:8203127C>T	uc002mjf.2	-	9	1120	c.1099G>A	c.(1099-1101)GGA>AGA	p.G367R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	367						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CCATTGGATCCGAAGCCCAGG	0.642000												
ANGPTL6	83854	broad.mit.edu	37	19	10205482	10205482	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:10205482C>A	uc002mmx.1	-	3	833	c.715G>T	c.(715-717)GCT>TCT	p.A239S	ANGPTL6_uc002mmy.1_Missense_Mutation_p.A239S	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6 precursor	239					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)			ATGGGAGAAGCCATGGGCTCC	0.597000												
DNM2	1785	broad.mit.edu	37	19	10893683	10893683	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:10893683A>T	uc002mps.1	+	6	900	c.736A>T	c.(736-738)AAG>TAG	p.K246*	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpv.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpu.1_Nonsense_Mutation_p.K246*|DNM2_uc010dxl.1_Nonsense_Mutation_p.K246*|DNM2_uc002mpw.2_5'UTR	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	246					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)			TGAGGGCAAGAAGGACATCCG	0.607000												
MAST1	22983	broad.mit.edu	37	19	12984515	12984515	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:12984515G>C	uc002mvm.2	+	26	3672	c.3544G>C	c.(3544-3546)GGA>CGA	p.G1182R		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	1182					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						CACGCTGCACGGACTGTCGCC	0.687000												
CACNA1A	773	broad.mit.edu	37	19	13418938	13418938	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:13418938C>A	uc010dze.2	-	14	2148	c.1912G>T	c.(1912-1914)GGC>TGC	p.G638C	CACNA1A_uc010dzc.2_Missense_Mutation_p.G163C|CACNA1A_uc002mwy.3_Missense_Mutation_p.G637C|CACNA1A_uc010xne.1_Missense_Mutation_p.G163C	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	638	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)	ACTTACTGGCCGCCGAAGAGT	0.547000												
DDX39	10212	broad.mit.edu	37	19	14521880	14521880	+	Silent	SNP	G	G	A	rs142002555	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:14521880G>A	uc010xnp.1	-	5	579	c.534C>T	c.(532-534)CTC>CTT	p.L178L	DDX39_uc002myo.2_Silent_p.L178L|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Silent_p.L178L	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	178	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						TATTCCGCACGAGCGCCAGGA	0.557000												
AKAP8	10270	broad.mit.edu	37	19	15484654	15484654	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:15484654T>C	uc002nav.2	-	4	375	c.314A>G	c.(313-315)AAG>AGG	p.K105R	AKAP8_uc010dzy.2_5'Flank|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Intron	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	105					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GCCTCCTTCCTTGGACATCAT	0.637000												
CYP4F3	4051	broad.mit.edu	37	19	15769193	15769193	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:15769193G>T	uc002nbj.2	+	10	1285	c.1235G>T	c.(1234-1236)CGG>CTG	p.R412L	CYP4F3_uc010xok.1_Missense_Mutation_p.R412L|CYP4F3_uc010xol.1_Missense_Mutation_p.R412L|CYP4F3_uc010xom.1_Missense_Mutation_p.R263L|CYP4F3_uc002nbk.2_Missense_Mutation_p.R412L|CYP4F3_uc010xon.1_Missense_Mutation_p.R122L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F,	412					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						CCAGACGGCCGGGTCATCCCC	0.637000												
ZNF93	81931	broad.mit.edu	37	19	20045443	20045443	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:20045443C>A	uc002non.2	+	4	1790	c.1679C>A	c.(1678-1680)ACT>AAT	p.T560N		NM_031218	NP_112495	P35789	ZNF93_HUMAN	zinc finger protein 93	560						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1						ATACTTCATACTGGAGAGAAA	0.368000												
ZNF626	199777	broad.mit.edu	37	19	20808345	20808345	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:20808345A>T	uc002npb.1	-	4	488	c.338T>A	c.(337-339)TTA>TAA	p.L113*	ZNF626_uc002npc.1_Nonsense_Mutation_p.L37*	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TCCTTTTTTTAACTGTAAATT	0.353000												
ZNF536	9745	broad.mit.edu	37	19	31039034	31039034	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:31039034C>A	uc002nsu.1	+	4	2646	c.2508C>A	c.(2506-2508)GAC>GAA	p.D836E	ZNF536_uc010edd.1_Missense_Mutation_p.D836E	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	836					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)					TCAGGCCAGACATCCTGAGGG	0.582000												
LRP3	4037	broad.mit.edu	37	19	33698246	33698246	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:33698246G>T	uc010edh.2	+	7	2171	c.2078G>T	c.(2077-2079)TGC>TTC	p.C693F	LRP3_uc002nuk.3_Missense_Mutation_p.C567F	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	693	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					GACCCAGAGTGCAGGCCCGTG	0.711000												
RYR1	6261	broad.mit.edu	37	19	39062794	39062794	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:39062794A>T	uc002oit.2	+	95	14012	c.13882A>T	c.(13882-13884)ATG>TTG	p.M4628L	RYR1_uc002oiu.2_Missense_Mutation_p.M4623L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4628					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)	GGATGAGAACATGGTGTACTA	0.607000												
AXL	558	broad.mit.edu	37	19	41765531	41765531	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:41765531T>G	uc010ehj.2	+	20	2597	c.2407T>G	c.(2407-2409)TTG>GTG	p.L803V	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.L794V	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	803	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						GCGGGAAGATTTGGAGAACAC	0.562000												
FBXO46	23403	broad.mit.edu	37	19	46215449	46215449	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:46215449G>A	uc002pcy.2	-	2	1430	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	FBXO46_uc002pcz.2_Silent_p.D435D	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	435							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)		CCTCGGCATCGTCTGGGCCGG	0.716000												
STRN4	29888	broad.mit.edu	37	19	47230796	47230796	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:47230796G>A	uc002pfl.2	-	9	1194	c.1161C>T	c.(1159-1161)TTC>TTT	p.F387F	STRN4_uc002pfm.2_Silent_p.F394F|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	387						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)		TGTCCATGATGAAGACGTCTG	0.428000												
GLTSCR1	29998	broad.mit.edu	37	19	48185352	48185352	+	Silent	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:48185352A>T	uc002phh.3	+	7	2420	c.2226A>T	c.(2224-2226)GGA>GGT	p.G742G	GLTSCR1_uc002phi.3_Silent_p.G500G	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	742							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)		TCGCCAAAGGAGCTGGCCTCG	0.736000												
PRR12	57479	broad.mit.edu	37	19	50098928	50098928	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:50098928G>A	uc002poo.3	+	4	1336	c.1336G>A	c.(1336-1338)GGT>AGT	p.G446S		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)		TTATTCCCCCGGTCAGCCTCA	0.687000												
PRKCG	5582	broad.mit.edu	37	19	54394966	54394966	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:54394966G>C	uc002qcq.1	+	6	850	c.568G>C	c.(568-570)GGT>CGT	p.G190R	PRKCG_uc010eqz.1_Missense_Mutation_p.G190R|PRKCG_uc010yef.1_Missense_Mutation_p.G190R|PRKCG_uc010yeg.1_Missense_Mutation_p.G190R|PRKCG_uc010yeh.1_Missense_Mutation_p.G77R	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	190	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)		GGACCCCAATGGTCTCTCTGA	0.552000												
NLRP8	126205	broad.mit.edu	37	19	56466661	56466661	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:56466661G>A	uc002qmh.2	+	3	1308	c.1237G>A	c.(1237-1239)GGA>AGA	p.G413R	NLRP8_uc010etg.2_Missense_Mutation_p.G413R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	413	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)		AATGGAGAGAGGAAACAATCT	0.478000												
ZNF530	348327	broad.mit.edu	37	19	58115657	58115657	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:58115657G>A	uc002qpk.2	+	2	263	c.43G>A	c.(43-45)GCC>ACC	p.A15T	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	15	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)		GGTTTTTGTAGCCTTTGAGGA	0.522000												
GREB1	9687	broad.mit.edu	37	2	11716623	11716623	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:11716623C>T	uc002rbk.1	+	5	899	c.599C>T	c.(598-600)ACT>ATT	p.T200I	GREB1_uc002rbl.2_Missense_Mutation_p.T200I|GREB1_uc002rbm.2_Missense_Mutation_p.T90I|GREB1_uc002rbn.1_Missense_Mutation_p.T200I	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	200						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)		GCACAAGGGACTCTAACCAAA	0.498000												
APOB	338	broad.mit.edu	37	2	21234023	21234023	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:21234023G>A	uc002red.2	-	26	5845	c.5717C>T	c.(5716-5718)ACC>ATC	p.T1906I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1906					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)	TGCATCGATGGTCATGGTAAA	0.478000												
XDH	7498	broad.mit.edu	37	2	31593300	31593300	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:31593300C>T	uc002rnv.1	-	18	1980	c.1901G>A	c.(1900-1902)TGT>TAT	p.C634Y		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	634					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)	GGAAATGAAACAAACAAACCC	0.443000												
TTC27	55622	broad.mit.edu	37	2	33002969	33002969	+	Silent	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:33002969C>G	uc002rom.2	+	14	1932	c.1701C>G	c.(1699-1701)CTC>CTG	p.L567L	TTC27_uc010ymx.1_Silent_p.L517L|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	567	HAT 1.|TPR 4.						protein binding			central_nervous_system(1)	1						GGTTTTCTCTCGGTTGTGCCT	0.403000												
USP34	9736	broad.mit.edu	37	2	61483553	61483553	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:61483553A>C	uc002sbe.2	-	48	6209	c.6187T>G	c.(6187-6189)TCT>GCT	p.S2063A	USP34_uc002sbf.2_Missense_Mutation_p.S213A	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2063					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)			CCACAATGAGAACAAGTATAC	0.308000												
IMMT	10989	broad.mit.edu	37	2	86371621	86371621	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:86371621C>G	uc002sqz.3	-	15	2435	c.2047G>C	c.(2047-2049)GAG>CAG	p.E683Q	IMMT_uc002sqy.3_Missense_Mutation_p.E424Q|IMMT_uc002srb.3_Missense_Mutation_p.E672Q|IMMT_uc002sra.3_Missense_Mutation_p.E682Q|IMMT_uc010ytd.1_Missense_Mutation_p.E671Q|IMMT_uc010yte.1_Missense_Mutation_p.E636Q	NM_006839	NP_006830	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial isoform 1	683	Mitochondrial intermembrane (Potential).					integral to mitochondrial inner membrane	protein binding			skin(1)	1						TTTATATCCTCAGGGCAGAGC	0.473000												
TSGA10	80705	broad.mit.edu	37	2	99651877	99651877	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:99651877T>A	uc002szg.3	-	15	2058	c.1430A>T	c.(1429-1431)AAG>ATG	p.K477M	TSGA10_uc002szh.3_Missense_Mutation_p.K477M|TSGA10_uc002szi.3_Missense_Mutation_p.K477M|TSGA10_uc010fin.1_Missense_Mutation_p.K477M	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	477					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						AATCTGGGACTTGTAAGACCT	0.303000												
EIF5B	9669	broad.mit.edu	37	2	99977640	99977640	+	Silent	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:99977640C>G	uc002tab.2	+	4	460	c.276C>G	c.(274-276)ACC>ACG	p.T92T		NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	92				T -> I (in Ref. 1; CAB44357).	regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						AGGAATTCACCTCAAAAGATA	0.294000												
CCDC138	165055	broad.mit.edu	37	2	109432434	109432434	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:109432434T>A	uc002ten.1	+	10	1139	c.1079T>A	c.(1078-1080)GTC>GAC	p.V360D	CCDC138_uc002teo.1_Missense_Mutation_p.V360D|CCDC138_uc002tep.1_Missense_Mutation_p.V44D|CCDC138_uc010fjm.1_Missense_Mutation_p.V44D	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	360											0						CTTTTAACTGTCTTCATGGAC	0.333000												
BUB1	699	broad.mit.edu	37	2	111408206	111408206	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:111408206A>C	uc002tgc.2	-	18	2232	c.2120T>G	c.(2119-2121)ATT>AGT	p.I707S	BUB1_uc010yxh.1_Missense_Mutation_p.I687S|BUB1_uc010fkb.2_Missense_Mutation_p.I707S	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	707					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)		ATCTTCTGCAATGGCAGCGTC	0.532000												
RBM43	375287	broad.mit.edu	37	2	152108058	152108058	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:152108058G>C	uc002txh.2	-	4	584	c.436C>G	c.(436-438)CCC>GCC	p.P146A		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	146							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)		CTTCCATTGGGTTTCAAAGGA	0.388000												
SCN3A	6328	broad.mit.edu	37	2	165947259	165947259	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:165947259G>A	uc002ucx.2	-	28	5896	c.5404C>T	c.(5404-5406)CCC>TCC	p.P1802S	SCN3A_uc010zcy.1_Missense_Mutation_p.P285S|SCN3A_uc002ucy.2_Missense_Mutation_p.P1753S|SCN3A_uc002ucz.2_Missense_Mutation_p.P1753S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1802						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GTCGCATCGGGATCAAACTTT	0.458000												
RAPGEF4	11069	broad.mit.edu	37	2	173832034	173832034	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:173832034T>A	uc002uhv.3	+	10	1053	c.866T>A	c.(865-867)TTT>TAT	p.F289Y	RAPGEF4_uc002uhu.2_Missense_Mutation_p.F289Y|RAPGEF4_uc002uhw.3_Missense_Mutation_p.F145Y|RAPGEF4_uc010zec.1_Missense_Mutation_p.F136Y|RAPGEF4_uc010zed.1_Missense_Mutation_p.F118Y|RAPGEF4_uc010zee.1_Missense_Mutation_p.F136Y|RAPGEF4_uc010fqo.2_Missense_Mutation_p.F118Y|RAPGEF4_uc010zef.1_Missense_Mutation_p.F69Y|RAPGEF4_uc010zeg.1_Missense_Mutation_p.F116Y|RAPGEF4_uc010fqp.1_Missense_Mutation_p.F69Y|RAPGEF4_uc010zeh.1_Missense_Mutation_p.F69Y	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	289	DEP.				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)			TTCTATCGATTTCTGGATGAT	0.522000												
ZAK	51776	broad.mit.edu	37	2	174104139	174104139	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:174104139G>T	uc002uhz.2	+	16	1474	c.1274G>T	c.(1273-1275)GGA>GTA	p.G425V	uc002uib.2_Intron	NM_016653	NP_057737	Q9NYL2	MLTK_HUMAN	MLK-related kinase isoform 1	425					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)			TAGGACTCAGGAGGTGAACCT	0.353000												
EVX2	344191	broad.mit.edu	37	2	176947082	176947082	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:176947082T>A	uc010zeu.1	-	2	709	c.523A>T	c.(523-525)AGC>TGC	p.S175C		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	175						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)		AGCGCCGCGCTCCCGCCGCTG	0.721000												
MSTN	2660	broad.mit.edu	37	2	190924970	190924970	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:190924970T>A	uc002urp.2	-	2	698	c.565A>T	c.(565-567)ATC>TTC	p.I189F		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	189					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)			AGAGATCGGATTCCAGTATAC	0.428000												
RFTN2	130132	broad.mit.edu	37	2	198495934	198495934	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:198495934G>C	uc002uuo.3	-	5	1131	c.729C>G	c.(727-729)AAC>AAG	p.N243K		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	243						plasma membrane					0						TATACAATTTGTTATCTGAGG	0.348000												
ORC2L	4999	broad.mit.edu	37	2	201822831	201822831	+	Silent	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:201822831A>G	uc002uwr.2	-	3	273	c.16T>C	c.(16-18)TTA>CTA	p.L6L	ORC2L_uc010zhj.1_Silent_p.L6L	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	6					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						TCTTCCTTTAATTCTGGTTTA	0.333000												
ZDBF2	57683	broad.mit.edu	37	2	207172799	207172799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:207172799G>T	uc002vbp.2	+	5	3797	c.3547G>T	c.(3547-3549)GAG>TAG	p.E1183*		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1183							nucleic acid binding|zinc ion binding			ovary(3)	3						TTTGGAGCAGGAGCACATTGA	0.403000												
PLEKHM3	389072	broad.mit.edu	37	2	208725964	208725964	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:208725964G>C	uc002vcl.2	-	7	2463	c.1973C>G	c.(1972-1974)CCA>CGA	p.P658R		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M,	658					intracellular signal transduction		metal ion binding			ovary(1)	1						GCCCAAGAATGGAGCCAGCTT	0.443000												
CYP27A1	1593	broad.mit.edu	37	2	219677108	219677108	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:219677108G>A	uc002viz.3	+	3	1044	c.610G>A	c.(610-612)GAC>AAC	p.D204N		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	204					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)	CCAGGTGTCGGACATGGCTCA	0.557000												
DOCK10	55619	broad.mit.edu	37	2	225651752	225651752	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:225651752G>A	uc010fwz.1	-	50	5881	c.5642C>T	c.(5641-5643)GCA>GTA	p.A1881V	DOCK10_uc002vob.2_Missense_Mutation_p.A1875V|DOCK10_uc002voa.2_Missense_Mutation_p.A537V|DOCK10_uc002voc.2_Missense_Mutation_p.A702V	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1881	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)		CCCATAAAATGCCACACGATA	0.433000												
RALGAPA2	57186	broad.mit.edu	37	20	20453520	20453520	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:20453520G>A	uc002wrz.2	-	37	5591	c.5448C>T	c.(5446-5448)ATC>ATT	p.I1816I	RALGAPA2_uc010gcx.2_Silent_p.I1520I|RALGAPA2_uc010zsg.1_Silent_p.I1264I|RALGAPA2_uc002wsa.1_Silent_p.I588I	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1816	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						TGCTGGCGTTGATGCACGTGG	0.458000												
PTPRT	11122	broad.mit.edu	37	20	41385177	41385177	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:41385177C>T	uc002xkg.2	-	6	968	c.784G>A	c.(784-786)GTC>ATC	p.V262I	PTPRT_uc010ggj.2_Missense_Mutation_p.V262I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	262	Extracellular (Potential).|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			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTTGCTGACGCTCCGCTGG	0.612000												
TP53TG5	27296	broad.mit.edu	37	20	44003762	44003762	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:44003762A>G	uc002xny.2	-	4	766	c.685T>C	c.(685-687)TCC>CCC	p.S229P	SYS1_uc002xnw.1_3'UTR|SYS1-DBNDD2_uc002xnx.2_Intron	NM_014477	NP_055292	Q9Y2B4	T53G5_HUMAN	TP53-target gene 5 protein	229					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)	1						AGGGTGGAGGATCTGCACATC	0.597000												
ZNF217	7764	broad.mit.edu	37	20	52198293	52198293	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:52198293G>C	uc002xwq.3	-	1	1344	c.1073C>G	c.(1072-1074)GCG>GGG	p.A358G	ZNF217_uc010gij.1_Missense_Mutation_p.A350G	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	358					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)			CACGGAGGGCGCTTCGCCGTG	0.562000												
CDH26	60437	broad.mit.edu	37	20	58560139	58560139	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:58560139T>G	uc002ybe.2	+	7	1092	c.792T>G	c.(790-792)GAT>GAG	p.D264E	CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	264	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)			TTCACGTGGATGTGCAAGAAG	0.557000												
OSBPL2	9885	broad.mit.edu	37	20	60859101	60859101	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:60859101G>A	uc002yck.1	+	10	1075	c.873_splice	c.e10-1	p.N291_splice	OSBPL2_uc002ycl.1_Splice_Site_p.N279_splice|OSBPL2_uc011aah.1_Splice_Site_p.N199_splice|OSBPL2_uc002ycm.1_Splice_Site_p.N103_splice	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform						lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TTTAATTACAGCAAAAAGAAG	0.388000												
DNAJC5	80331	broad.mit.edu	37	20	62559705	62559705	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr20:62559705G>C	uc002yhf.2	+	2	177	c.7G>C	c.(7-9)GAC>CAC	p.D3H	DNAJC5_uc002yhg.1_Missense_Mutation_p.D3H|DNAJC5_uc002yhh.2_RNA	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	3					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)					TAACATGGCAGACCAGAGACA	0.423000												
USP25	29761	broad.mit.edu	37	21	17172100	17172100	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr21:17172100A>G	uc002yjy.1	+	6	797	c.580A>G	c.(580-582)AGA>GGA	p.R194G	USP25_uc011aby.1_Missense_Mutation_p.R194G|USP25_uc002yjz.1_Missense_Mutation_p.R194G|USP25_uc010gla.1_Missense_Mutation_p.R194G	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	194					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)		TTTGGAATTTAGAAGATTAGT	0.299000												
COL6A2	1292	broad.mit.edu	37	21	47545507	47545507	+	Missense_Mutation	SNP	G	G	A	rs142002945		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr21:47545507G>A	uc002zia.1	+	25	2027	c.1945G>A	c.(1945-1947)GCT>ACT	p.A649T	COL6A2_uc002zhy.1_Missense_Mutation_p.A649T|COL6A2_uc002zhz.1_Missense_Mutation_p.A649T|COL6A2_uc002zib.1_Missense_Mutation_p.A55T|COL6A2_uc002zic.1_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	649	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)		GGGTGCCATCGCTAAGGACCC	0.627000												
ZDHHC8	29801	broad.mit.edu	37	22	20126835	20126835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:20126835C>T	uc002zrq.2	+	2	329	c.223C>T	c.(223-225)CGA>TGA	p.R75*	ZDHHC8_uc002zrr.1_Nonsense_Mutation_p.R75*|ZDHHC8_uc010gsa.2_5'Flank	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	75	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					TGTTTTCCCCCGAGGTAGGGC	0.562000												
HPS4	89781	broad.mit.edu	37	22	26849268	26849268	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:26849268C>T	uc003acl.2	-	14	2717	c.2058G>A	c.(2056-2058)CAG>CAA	p.Q686Q	HPS4_uc003aci.2_Silent_p.Q681Q|HPS4_uc003acj.2_Silent_p.Q550Q|HPS4_uc003ack.2_Silent_p.Q477Q|HPS4_uc003acn.2_Silent_p.Q532Q|HPS4_uc003ach.2_Silent_p.Q421Q	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	light ear protein isoform a	686					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity				0						AGGCGCCATCCTGAGGGTTTG	0.592000									Hermansky-Pudlak_syndrome			
CRYBB1	1414	broad.mit.edu	37	22	26995521	26995521	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:26995521C>T	uc003acy.1	-	6	762	c.692G>A	c.(691-693)CGC>CAC	p.R231H		NM_001887	NP_001878	P53674	CRBB1_HUMAN	crystallin, beta B1	231	Beta/gamma crystallin 'Greek key' 4.				visual perception		structural constituent of eye lens			ovary(1)	1						GTCACGCAGGCGACGCAGGGA	0.627000												
CACNA1I	8911	broad.mit.edu	37	22	40045825	40045825	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:40045825G>A	uc003ayc.2	+	10	1887	c.1887G>A	c.(1885-1887)ACG>ACA	p.T629T	CACNA1I_uc003ayd.2_Silent_p.T594T|CACNA1I_uc003aye.2_Silent_p.T544T|CACNA1I_uc003ayf.2_Silent_p.T509T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	629	II.|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)	GGCGGGAGACGCGAGCCAAGC	0.537000												
CHKB	1120	broad.mit.edu	37	22	51018797	51018797	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr22:51018797G>A	uc003bms.2	-	6	944	c.726C>T	c.(724-726)GAC>GAT	p.D242D	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'Flank|CHKB-CPT1B_uc003bmt.1_Silent_p.D33D|CHKB-CPT1B_uc003bmu.2_Silent_p.D121D|CHKB_uc003bmv.2_Silent_p.D242D|LOC100144603_uc003bmw.3_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	choline kinase beta	242					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)	CTTCCTGGATGTCATTGTGGC	0.552000												
TMPPE	643853	broad.mit.edu	37	3	33134422	33134422	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:33134422G>A	uc003cfk.2	-	2	1457	c.1266C>T	c.(1264-1266)TTC>TTT	p.F422F	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.F285F	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	422						integral to membrane	metal ion binding				0						TGACATACACGAATGTAGCCT	0.577000												
CTNNB1	1499	broad.mit.edu	37	3	41266100	41266100	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:41266100T>C	uc010hia.1	+	4	253	c.97T>C	c.(97-99)TCT>CCT	p.S33P	CTNNB1_uc003ckp.2_Missense_Mutation_p.S33P|CTNNB1_uc003ckq.2_Missense_Mutation_p.S33P|CTNNB1_uc003ckr.2_Missense_Mutation_p.S33P|CTNNB1_uc011azf.1_Missense_Mutation_p.S26P|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	33			S -> F (in PTR, MDB and hepatocellular carcinoma).|Missing (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).|S -> L (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.S33C(131)|p.S33F(79)|p.A5_A80del(63)|p.S33Y(52)|p.S33P(37)|p.S33A(14)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.S33L(4)|p.W25_D32del(4)|p.W25_I140del(4)|p.S33N(3)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(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.S33T(1)|p.S33S(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.E9_A80del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(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.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.W25_A80del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.D32_S33insS(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.V22_Y64del(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)	TTACCTGGACTCTGGAATCCA	0.488000		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of			
CCR9	10803	broad.mit.edu	37	3	45943257	45943257	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:45943257G>A	uc003coz.1	+	3	1134	c.977G>A	c.(976-978)CGG>CAG	p.R326Q	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.R314Q|CCR9_uc003cpa.1_Missense_Mutation_p.R314Q	NM_031200	NP_112477	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9 isoform A	326	Cytoplasmic (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)		AGATTCCGCCGGGATCTCGTG	0.507000												
PLXNB1	5364	broad.mit.edu	37	3	48455322	48455322	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:48455322G>C	uc003csw.2	-	22	4638	c.4368C>G	c.(4366-4368)GAC>GAG	p.D1456E	PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Missense_Mutation_p.D1273E|PLXNB1_uc003csx.2_Missense_Mutation_p.D1456E|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1456	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)		CAGGCAAAGAGTCAGGTGCCT	0.667000												
PFKFB4	5210	broad.mit.edu	37	3	48576698	48576698	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:48576698C>G	uc003ctv.2	-	6	516	c.499G>C	c.(499-501)GCC>CCC	p.A167P	PFKFB4_uc003ctw.2_5'UTR|PFKFB4_uc010hkc.2_Missense_Mutation_p.A167P|PFKFB4_uc003ctx.2_Missense_Mutation_p.A124P|PFKFB4_uc010hkb.2_Missense_Mutation_p.A167P|PFKFB4_uc011bbm.1_Missense_Mutation_p.A156P|PFKFB4_uc011bbn.1_RNA	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	167	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)		ACGATGTTGGCAGCTATGACC	0.522000												
NISCH	11188	broad.mit.edu	37	3	52526002	52526002	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:52526002A>T	uc011beg.1	+	22	4091	c.4019A>T	c.(4018-4020)GAG>GTG	p.E1340V	NISCH_uc003ded.3_Missense_Mutation_p.E1340V|NISCH_uc003dee.3_Missense_Mutation_p.E829V|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Missense_Mutation_p.E89V	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1340					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)		GCTGAGCCAGAGAAGGCCCCA	0.622000												
ERC2	26059	broad.mit.edu	37	3	56330199	56330199	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:56330199G>T	uc003dhr.1	-	3	1178	c.922C>A	c.(922-924)CTT>ATT	p.L308I		NM_015576	NP_056391	O15083	ERC2_HUMAN	cytomatrix protein p110	308	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)		ATCTCAAGAAGTTTTTTAATT	0.468000												
VGLL3	389136	broad.mit.edu	37	3	87017820	87017820	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:87017820G>T	uc003dqn.2	-	3	1221	c.857C>A	c.(856-858)ACA>AAA	p.T286K		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	286					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)		AGAGGTGACTGTAGTTGGTTC	0.532000												
VGLL3	389136	broad.mit.edu	37	3	87017831	87017831	+	Silent	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:87017831T>C	uc003dqn.2	-	3	1210	c.846A>G	c.(844-846)ACA>ACG	p.T282T		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	282					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)		TAGTTGGTTCTGTCTTTGTGA	0.557000												
EPHA3	2042	broad.mit.edu	37	3	89457249	89457249	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:89457249A>T	uc003dqy.2	+	9	1955	c.1730A>T	c.(1729-1731)GAT>GTT	p.D577V	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	577	Cytoplasmic (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)		CATGGGGCAGATGAAAAAAGA	0.348000										TSP Lung(6;0.00050)		
GOLGB1	2804	broad.mit.edu	37	3	121418664	121418664	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:121418664T>G	uc003eei.3	-	12	1699	c.1573A>C	c.(1573-1575)AGT>CGT	p.S525R	GOLGB1_uc010hrc.2_Missense_Mutation_p.S530R|GOLGB1_uc003eej.3_Missense_Mutation_p.S491R|GOLGB1_uc011bjm.1_Missense_Mutation_p.S411R|GOLGB1_uc010hrd.1_Missense_Mutation_p.S489R	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	525	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)		CTTACCTCACTGACTTCTCTG	0.368000												
UROC1	131669	broad.mit.edu	37	3	126214935	126214935	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:126214935C>A	uc003eiz.1	-	15	1487	c.1455G>T	c.(1453-1455)AAG>AAT	p.K485N	UROC1_uc010hsi.1_Missense_Mutation_p.K545N	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	485					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)		TGTACTGCAGCTTCACAGACA	0.657000												
XRN1	54464	broad.mit.edu	37	3	142133030	142133030	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:142133030G>T	uc003eus.2	-	14	1607	c.1540C>A	c.(1540-1542)CTT>ATT	p.L514I	XRN1_uc010huu.2_5'Flank|XRN1_uc003eut.2_Missense_Mutation_p.L514I|XRN1_uc003euu.2_Missense_Mutation_p.L514I|XRN1_uc003euv.1_Missense_Mutation_p.L375I	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	514					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						ACAGCAAGAAGCTGTTCAAAT	0.358000												
PLSCR2	57047	broad.mit.edu	37	3	146173129	146173129	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:146173129C>T	uc003evv.1	-	5	551	c.218G>A	c.(217-219)AGA>AAA	p.R73K	PLSCR2_uc003evw.1_Missense_Mutation_p.R142K	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	73	Cytoplasmic (By similarity).				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity				0						GGTAAAAGGTCTAGACCGCCC	0.418000												
DNAJC19	131118	broad.mit.edu	37	3	180704741	180704741	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:180704741G>T	uc003fkt.2	-	4	339	c.199C>A	c.(199-201)CTA>ATA	p.L67I	DNAJC19_uc003fku.2_Intron	NM_145261	NP_660304	Q96DA6	TIM14_HUMAN	DnaJ homolog, subfamily C, member 19	67	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)			CTTACACCTAGTATTAATGCT	0.363000												
ATP13A5	344905	broad.mit.edu	37	3	192992921	192992921	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr3:192992921G>A	uc011bsq.1	-	30	3567	c.3567C>T	c.(3565-3567)AAC>AAT	p.N1189N		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1189					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)		CATAGCCTCCGTTGATGTAGA	0.433000												
NKX3-2	579	broad.mit.edu	37	4	13543878	13543878	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:13543878C>G	uc003gmx.2	-	2	817	c.741G>C	c.(739-741)GAG>GAC	p.E247D		NM_001189	NP_001180	P78367	NKX32_HUMAN	NK3 homeobox 2	247	Homeobox.				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCACCTGCGTCTCGGTGAGCT	0.672000												
CWH43	80157	broad.mit.edu	37	4	49052744	49052744	+	Silent	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:49052744G>C	uc003gyv.2	+	15	2081	c.1899G>C	c.(1897-1899)CTG>CTC	p.L633L	CWH43_uc011bzl.1_Silent_p.L606L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	633					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3						ATGCTGAACTGAGTGATTCAG	0.383000												
ANKRD17	26057	broad.mit.edu	37	4	73957880	73957880	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:73957880G>A	uc003hgp.2	-	29	5582	c.5465C>T	c.(5464-5466)GCA>GTA	p.A1822V	ANKRD17_uc003hgo.2_Missense_Mutation_p.A1709V|ANKRD17_uc003hgq.2_Missense_Mutation_p.A1571V|ANKRD17_uc003hgr.2_Missense_Mutation_p.A1821V	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1822					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)			GGTGGTAGGTGCTGATGACCC	0.403000												
ANKRD17	26057	broad.mit.edu	37	4	73957892	73957892	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:73957892A>C	uc003hgp.2	-	29	5570	c.5453T>G	c.(5452-5454)ATA>AGA	p.I1818R	ANKRD17_uc003hgo.2_Missense_Mutation_p.I1705R|ANKRD17_uc003hgq.2_Missense_Mutation_p.I1567R|ANKRD17_uc003hgr.2_Missense_Mutation_p.I1817R	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1818					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)			TGATGACCCTATTTTGGAATT	0.393000												
SEC31A	22872	broad.mit.edu	37	4	83763493	83763493	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:83763493G>T	uc003hnf.2	-	22	2932	c.2768C>A	c.(2767-2769)TCT>TAT	p.S923Y	SEC31A_uc003hnd.2_Missense_Mutation_p.S79Y|SEC31A_uc003hne.2_Missense_Mutation_p.S687Y|SEC31A_uc011ccl.1_Missense_Mutation_p.S884Y|SEC31A_uc003hnl.2_Intron|SEC31A_uc003hng.2_Missense_Mutation_p.S923Y|SEC31A_uc003hnh.2_Missense_Mutation_p.S923Y|SEC31A_uc003hni.2_Intron|SEC31A_uc003hnj.2_Missense_Mutation_p.S884Y|SEC31A_uc011ccm.1_Missense_Mutation_p.S918Y|SEC31A_uc011ccn.1_Missense_Mutation_p.S923Y|SEC31A_uc003hnk.2_Missense_Mutation_p.S884Y|SEC31A_uc003hnm.2_Missense_Mutation_p.S923Y	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	923	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)				GTACAGCTGAGACTGCCCAGT	0.542000												
LARP1B	55132	broad.mit.edu	37	4	129043260	129043260	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:129043260G>T	uc003iga.2	+	11	1572	c.1441G>T	c.(1441-1443)GCT>TCT	p.A481S	LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.A481S|LARP1B_uc003igb.1_Missense_Mutation_p.A196S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	481							RNA binding				0						ATCTGAACTTGCTAAAGTTAT	0.393000												
NPY2R	4887	broad.mit.edu	37	4	156135770	156135770	+	Silent	SNP	T	T	C	rs149843372	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:156135770T>C	uc003ioq.2	+	2	1174	c.679T>C	c.(679-681)TTG>CTG	p.L227L	NPY2R_uc003ior.2_Silent_p.L227L	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	227	Helical; Name=5; (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)				CTTGTTGATCTTGTATGTTTT	0.448000												
FAT1	2195	broad.mit.edu	37	4	187549439	187549439	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr4:187549439G>C	uc003izf.2	-	9	4867	c.4679C>G	c.(4678-4680)CCG>CGG	p.P1560R		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1560	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						GGTGAACCACGGGGCGTGGTC	0.498000										HNSCC(5;0.00058)		
SLC12A7	10723	broad.mit.edu	37	5	1076859	1076859	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:1076859C>G	uc003jbu.2	-	13	1764	c.1698G>C	c.(1696-1698)GAG>GAC	p.E566D		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	566	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)	GGATGCCAGTCTCGCAGATGA	0.657000												
GZMK	3003	broad.mit.edu	37	5	54327286	54327286	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:54327286G>A	uc003jpl.1	+	4	502	c.458G>A	c.(457-459)GGC>GAC	p.G153D		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	153	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAGGTTACTGGCTGGGGAGCC	0.448000												
JMY	133746	broad.mit.edu	37	5	78612029	78612029	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:78612029C>G	uc003kfx.3	+	10	3386	c.2866C>G	c.(2866-2868)CTA>GTA	p.L956V		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	junction-mediating and regulatory protein	956					'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)		TACAGACCCTCTAACACGGAG	0.428000												
GIN1	54826	broad.mit.edu	37	5	102433117	102433117	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:102433117A>T	uc003koa.1	-	6	991	c.909T>A	c.(907-909)CAT>CAA	p.H303Q	GIN1_uc003kob.1_Missense_Mutation_p.H156Q|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	303					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)		CATCCACTTCATGAAGACTAT	0.328000												
SNCAIP	9627	broad.mit.edu	37	5	121739486	121739486	+	Splice_Site	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:121739486A>C	uc003ksw.1	+	3	264	c.58_splice	c.e3-2	p.Y20_splice	SNCAIP_uc011cwl.1_Splice_Site|SNCAIP_uc010jct.2_Splice_Site_p.Y20_splice|SNCAIP_uc003ksx.1_Splice_Site_p.Y67_splice|SNCAIP_uc003ksy.1_Splice_Site_p.L4_splice|SNCAIP_uc003ksz.1_Splice_Site_p.L4_splice|SNCAIP_uc010jcu.2_Splice_Site_p.L4_splice|SNCAIP_uc011cwm.1_Splice_Site_p.L4_splice|SNCAIP_uc003kta.1_Splice_Site_p.S2_splice|SNCAIP_uc010jcv.1_Splice_Site|SNCAIP_uc010jcw.1_Splice_Site_p.L4_splice|SNCAIP_uc010jcx.1_Splice_Site_p.Y20_splice	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein						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)		CTTCCCGTTCAGTATTCAGTC	0.438000												
PCDHA1	56147	broad.mit.edu	37	5	140167155	140167155	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:140167155C>T	uc003lhb.2	+	1	1280	c.1280C>T	c.(1279-1281)GCG>GTG	p.A427V	PCDHA1_uc003lha.2_Missense_Mutation_p.A427V|PCDHA1_uc003lgz.2_Missense_Mutation_p.A427V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	427	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)			GTGGTGACCGCGCGGGACGGG	0.647000												
PCDHB15	56121	broad.mit.edu	37	5	140626809	140626809	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:140626809A>C	uc003lje.2	+	1	1663	c.1663A>C	c.(1663-1665)AAC>CAC	p.N555H		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	555	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)			GCTGGACGCCAACGACAACTC	0.716000												
ABLIM3	22885	broad.mit.edu	37	5	148627430	148627430	+	Missense_Mutation	SNP	G	G	A	rs138587496		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:148627430G>A	uc003lpy.2	+	18	1888	c.1637G>A	c.(1636-1638)CGG>CAG	p.R546Q	ABLIM3_uc003lpz.1_Missense_Mutation_p.R546Q|ABLIM3_uc003lqa.1_Missense_Mutation_p.R443Q|ABLIM3_uc003lqb.2_Missense_Mutation_p.R435Q|ABLIM3_uc003lqc.1_Missense_Mutation_p.R513Q|ABLIM3_uc003lqd.1_Missense_Mutation_p.R451Q|ABLIM3_uc003lqf.2_Missense_Mutation_p.R435Q|ABLIM3_uc003lqe.1_Missense_Mutation_p.R435Q	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	546					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)			ACCCCTCCCCGGAGCTCCACC	0.612000												
ATP10B	23120	broad.mit.edu	37	5	160029611	160029611	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr5:160029611C>G	uc003lym.1	-	21	4183	c.3336G>C	c.(3334-3336)ATG>ATC	p.M1112I	ATP10B_uc010jit.1_Missense_Mutation_p.M429I	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1112	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)			AGTACACCACCATCCTGGCCA	0.572000												
DUSP22	56940	broad.mit.edu	37	6	311948	311948	+	Silent	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:311948A>C	uc003msx.2	+	3	563	c.124A>C	c.(124-126)AGG>CGG	p.R42R	DUSP22_uc011dhn.1_Silent_p.R42R|DUSP22_uc003msy.1_5'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	42					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)		CGATAGTGCCAGGCCTATGTT	0.502000												
DSP	1832	broad.mit.edu	37	6	7574926	7574926	+	Silent	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:7574926C>A	uc003mxp.1	+	17	2613	c.2334C>A	c.(2332-2334)CTC>CTA	p.L778L	DSP_uc003mxq.1_Silent_p.L778L	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	778	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)		AGGCTATTCTCCAAACAGAAG	0.453000												
GABBR1	2550	broad.mit.edu	37	6	29574171	29574171	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:29574171G>A	uc003nmt.3	-	19	2644	c.2308C>T	c.(2308-2310)CTT>TTT	p.L770F	GABBR1_uc003nmp.3_Missense_Mutation_p.L653F|GABBR1_uc003nms.3_Missense_Mutation_p.L653F|GABBR1_uc003nmu.3_Missense_Mutation_p.L708F|GABBR1_uc011dlr.1_Missense_Mutation_p.L593F	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	770	Helical; Name=5; (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)	CACACACCAAGCCATGTATTC	0.547000												
HLA-E	3133	broad.mit.edu	37	6	30459040	30459040	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:30459040C>G	uc003nqg.2	+	4	775	c.737C>G	c.(736-738)ACC>AGC	p.T246S	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.T287S	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	246	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						GAGGGCCATACCCAGGACACG	0.632000												
NCR3	259197	broad.mit.edu	37	6	31556854	31556854	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:31556854G>T	uc003nuv.2	-	4	860	c.596C>A	c.(595-597)CCA>CAA	p.P199Q	NCR3_uc003nuw.2_3'UTR	NM_147130	NP_667341	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	199	Cytoplasmic (Potential).				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						TCAGCCTCCTGGGACTGGGGG	0.597000												
TAP2	6891	broad.mit.edu	37	6	32782949	32782949	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:32782949T>A	uc011dqf.1	-	13	2176	c.2054A>T	c.(2053-2055)AAG>ATG	p.K685M	HLA-DOB_uc003oca.2_Missense_Mutation_p.K78M|HLA-DOB_uc011dqg.1_Missense_Mutation_p.K78M	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						CTGCCCCAGCTTGGTCAATGC	0.527000												
ITPR3	3710	broad.mit.edu	37	6	33652701	33652701	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:33652701G>C	uc011drk.1	+	39	5507	c.5288G>C	c.(5287-5289)GGT>GCT	p.G1763A	ITPR3_uc003oey.2_5'Flank	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	1763	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						CTGCTGGATGGTGGCAACACA	0.607000												
DEFB110	245913	broad.mit.edu	37	6	49976974	49976974	+	Silent	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:49976974A>G	uc011dwr.1	-	2	112	c.66T>C	c.(64-66)AAT>AAC	p.N22N		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	beta-defensin 110 isoform b	22					defense response to bacterium	extracellular region				ovary(1)	1	Lung NSC(77;0.042)					TTGGTTCAAAATTGCTTCTGG	0.303000												
ICK	22858	broad.mit.edu	37	6	52905948	52905948	+	Silent	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:52905948C>A	uc003pbh.2	-	3	577	c.87G>T	c.(85-87)CTG>CTT	p.L29L	ICK_uc003pbi.2_Silent_p.L29L|ICK_uc003pbj.2_Silent_p.L29L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	intestinal cell kinase	29	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)					TAATAGCGATCAGCTCCCCAG	0.468000												
PRSS35	167681	broad.mit.edu	37	6	84234250	84234250	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:84234250C>T	uc003pjz.2	+	2	1253	c.1090C>T	c.(1090-1092)CGC>TGC	p.R364C	PRSS35_uc010kbm.2_Missense_Mutation_p.R364C	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	protease, serine, 35 precursor	364	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)		GAATTGGAAGCGCAAAATCAT	0.512000												
BACH2	60468	broad.mit.edu	37	6	90661069	90661069	+	Silent	SNP	A	A	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:90661069A>C	uc011eab.1	-	7	1565	c.756T>G	c.(754-756)GGT>GGG	p.G252G	BACH2_uc003pnw.2_Silent_p.G252G|BACH2_uc010kch.2_Silent_p.G252G	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	252						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)		TGCTTGCAAAACCTGAGGTAC	0.493000												
LATS1	9113	broad.mit.edu	37	6	149983002	149983002	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:149983002C>A	uc003qmu.1	-	8	3804	c.3256G>T	c.(3256-3258)GAC>TAC	p.D1086Y	LATS1_uc010kif.1_Missense_Mutation_p.D981Y	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	1086	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)		TAGCCATTGTCATCAAAAAAC	0.373000												
SYNE1	23345	broad.mit.edu	37	6	152653023	152653023	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:152653023G>A	uc010kiw.2	-	78	13399	c.12797C>T	c.(12796-12798)TCT>TTT	p.S4266F	SYNE1_uc003qot.3_Missense_Mutation_p.S4195F|SYNE1_uc003qou.3_Missense_Mutation_p.S4266F|SYNE1_uc010kiz.2_Missense_Mutation_p.S21F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4266	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)		CTCTGCATCAGATCTGAAAAT	0.348000										HNSCC(10;0.0054)		
VIP	7432	broad.mit.edu	37	6	153073373	153073373	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:153073373T>A	uc003qpe.2	+	2	233	c.61T>A	c.(61-63)TCA>ACA	p.S21T	VIP_uc003qpf.2_Missense_Mutation_p.S21T|VIP_uc010kjd.2_Missense_Mutation_p.S21T	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1	21					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)		TGTGCTCTTCTCACAGACTTC	0.473000												
TULP4	56995	broad.mit.edu	37	6	158923411	158923411	+	Silent	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:158923411C>A	uc003qrf.2	+	13	4073	c.2716C>A	c.(2716-2718)CGG>AGG	p.R906R	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)		GCCCCGCACCCGGATGCTGTG	0.652000												
CARD11	84433	broad.mit.edu	37	7	2962848	2962848	+	Missense_Mutation	SNP	G	G	A	rs41493047	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	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	0.697000			Mis		DLBCL							
MMD2	221938	broad.mit.edu	37	7	4949532	4949532	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:4949532C>T	uc003sno.3	-	6	785	c.589G>A	c.(589-591)GCC>ACC	p.A197T	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.A173T|MMD2_uc010ksq.2_Missense_Mutation_p.A173T	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	197	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)		ATGACCAGGGCGGGGAAGAAG	0.478000												
FSCN1	6624	broad.mit.edu	37	7	5632769	5632769	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:5632769C>T	uc003sou.2	+	1	316	c.202C>T	c.(202-204)CGC>TGC	p.R68C		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	fascin 1	68					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)		CCACCTGGGCCGCTACCTGGC	0.711000												
HDAC9	9734	broad.mit.edu	37	7	18688166	18688166	+	Silent	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:18688166T>C	uc003suh.2	+	10	1359	c.1318T>C	c.(1318-1320)TTG>CTG	p.L440L	HDAC9_uc003sue.2_Silent_p.L440L|HDAC9_uc011jyd.1_Silent_p.L440L|HDAC9_uc003sui.2_Silent_p.L443L|HDAC9_uc003suj.2_Silent_p.L399L|HDAC9_uc011jya.1_Silent_p.L437L|HDAC9_uc003sua.1_Silent_p.L418L|HDAC9_uc011jyb.1_Silent_p.L396L|HDAC9_uc003sud.1_Silent_p.L440L|HDAC9_uc011jyc.1_Silent_p.L399L|HDAC9_uc003suf.1_Silent_p.L471L|HDAC9_uc010kud.1_Silent_p.L443L|HDAC9_uc011jye.1_Silent_p.L412L|HDAC9_uc011jyf.1_Silent_p.L363L|HDAC9_uc010kue.1_Silent_p.L183L	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	440					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)	TACCCACAAATTGCCCCGTCA	0.478000												
DNAH11	8701	broad.mit.edu	37	7	21775375	21775375	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:21775375G>T	uc003svc.2	+	47	7610	c.7579G>T	c.(7579-7581)GTA>TTA	p.V2527L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2527	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						AACAGTCTTTGTAGGTGACAC	0.438000									Kartagener_syndrome			
POMZP3	22932	broad.mit.edu	37	7	76254944	76254944	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:76254944G>C	uc003uft.2	-	3	869	c.122C>G	c.(121-123)CCA>CGA	p.P41R	uc003ufs.1_Intron|POMZP3_uc003ufu.2_Missense_Mutation_p.P41R|POMZP3_uc003ufv.2_RNA|POMZP3_uc011kgm.1_RNA	NM_012230	NP_036362	Q6PJE2	POZP3_HUMAN	POMZP3 fusion protein isoform 1	41											0		Myeloproliferative disorder(862;0.204)				CTTTGCACATGGGTCTGGGGC	0.418000												
FGL2	10875	broad.mit.edu	37	7	76828646	76828646	+	Silent	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:76828646A>G	uc003ugb.2	-	1	505	c.465T>C	c.(463-465)CAT>CAC	p.H155H	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	155	Potential.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						CCAGGCGACCATGAAGTACAT	0.393000												
PCLO	27445	broad.mit.edu	37	7	82545735	82545735	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:82545735G>C	uc003uhx.2	-	7	11856	c.11567C>G	c.(11566-11568)CCA>CGA	p.P3856R	PCLO_uc003uhv.2_Missense_Mutation_p.P3856R|PCLO_uc010lec.2_Missense_Mutation_p.P821R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3787					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGCAGTTCTTGGTCGCTCAAT	0.468000												
PCLO	27445	broad.mit.edu	37	7	82585418	82585418	+	Silent	SNP	T	T	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:82585418T>G	uc003uhx.2	-	5	5140	c.4851A>C	c.(4849-4851)ACA>ACC	p.T1617T	PCLO_uc003uhv.2_Silent_p.T1617T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1548					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CATCAATGCTTGTGCTACTTT	0.408000												
SAMD9L	219285	broad.mit.edu	37	7	92763387	92763387	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:92763387C>T	uc003umh.1	-	5	3114	c.1898G>A	c.(1897-1899)AGG>AAG	p.R633K	SAMD9L_uc003umj.1_Missense_Mutation_p.R633K|SAMD9L_uc003umi.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfb.1_Missense_Mutation_p.R633K|SAMD9L_uc003umk.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfc.1_Missense_Mutation_p.R633K|SAMD9L_uc010lfd.1_Missense_Mutation_p.R633K|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	633										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)			GGGCAAAAACCTTCTTGATGA	0.398000												
NPTX2	4885	broad.mit.edu	37	7	98256551	98256551	+	Silent	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:98256551C>A	uc003upl.2	+	4	1140	c.963C>A	c.(961-963)GGC>GGA	p.G321G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	321	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)			CACGGGATGGCATGTGGGAGG	0.622000												
PLOD3	8985	broad.mit.edu	37	7	100859255	100859255	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:100859255C>T	uc003uyd.2	-	5	1005	c.549G>A	c.(547-549)TGG>TGA	p.W183*	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	183					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)	CCTTGTACTTCCACTGGCGCA	0.612000												
LHFPL3	375612	broad.mit.edu	37	7	103969641	103969641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:103969641C>A	uc003vce.2	+	1	538	c.414C>A	c.(412-414)TAC>TAA	p.Y138*	LHFPL3_uc003vcf.2_Nonsense_Mutation_p.Y138*	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	124						integral to membrane					0						CCACTGTGTACAAGATATGTG	0.607000												
KIAA1549	57670	broad.mit.edu	37	7	138566147	138566147	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:138566147G>A	uc011kql.1	-	11	4265	c.4216C>T	c.(4216-4218)CGT>TGT	p.R1406C	KIAA1549_uc011kqi.1_Missense_Mutation_p.R190C|KIAA1549_uc003vuk.3_Missense_Mutation_p.R1356C|KIAA1549_uc011kqj.1_Missense_Mutation_p.R1406C|KIAA1549_uc011kqk.1_Missense_Mutation_p.R190C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1406						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						CCTCTGTGACGAACATTCTTG	0.502000			O	BRAF	pilocytic astrocytoma							
TAS2R4	50832	broad.mit.edu	37	7	141478478	141478478	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:141478478G>A	uc003vwq.1	+	1	190	c.190G>A	c.(190-192)GTG>ATG	p.V64M		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	64	Helical; Name=2; (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ACTATTTCTGGTGAACACCAT	0.433000												
EPHB6	2051	broad.mit.edu	37	7	142566048	142566048	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:142566048G>T	uc011kst.1	+	14	2755	c.1968G>T	c.(1966-1968)CAG>CAT	p.Q656H	EPHB6_uc011ksu.1_Missense_Mutation_p.Q656H|EPHB6_uc003wbs.2_Missense_Mutation_p.Q364H|EPHB6_uc003wbt.2_Missense_Mutation_p.Q130H|EPHB6_uc003wbu.2_Missense_Mutation_p.Q364H|EPHB6_uc003wbv.2_Missense_Mutation_p.Q40H	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	656	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)					ACCCCTGTCAGGCCATCCGAG	0.557000												
TRPV6	55503	broad.mit.edu	37	7	142573524	142573524	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:142573524G>A	uc003wbx.1	-	7	1112	c.896C>T	c.(895-897)ACC>ATC	p.T299I	TRPV6_uc003wbw.1_Missense_Mutation_p.T85I|TRPV6_uc010lou.1_Missense_Mutation_p.T170I	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	299	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CCGCTTCTTGGTGGTGATGAT	0.572000												
CNTNAP2	26047	broad.mit.edu	37	7	147183113	147183113	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:147183113G>A	uc003weu.1	+	11	2273	c.1757G>A	c.(1756-1758)AGT>AAT	p.S586N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	586	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)			ACAGGATACAGTGGGGCCACC	0.463000										HNSCC(39;0.1)		
EZH2	2146	broad.mit.edu	37	7	148543680	148543680	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:148543680C>A	uc003wfd.1	-	3	294	c.128G>T	c.(127-129)AGT>ATT	p.S43I	EZH2_uc011kug.1_Missense_Mutation_p.S43I|EZH2_uc003wfb.1_Missense_Mutation_p.S43I|EZH2_uc003wfc.1_Missense_Mutation_p.S43I|EZH2_uc011kuh.1_Missense_Mutation_p.S43I|EZH2_uc011kui.1_Missense_Mutation_p.S43I|EZH2_uc011kuj.1_RNA	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	43	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).				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)			ACGATTGGAACTAAACATACT	0.353000			Mis		DLBCL							
SSPO	23145	broad.mit.edu	37	7	149474038	149474038	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:149474038G>C	uc010lpk.2	+	3	248	c.248G>C	c.(247-249)CGG>CCG	p.R83P	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	83	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGAAACCCGGCCTGCCAAG	0.632000												
EN2	2020	broad.mit.edu	37	7	155255080	155255080	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr7:155255080A>G	uc003wmb.2	+	2	949	c.700A>G	c.(700-702)AAA>GAA	p.K234E		NM_001427	NP_001418	P19622	HME2_HUMAN	engrailed homeobox 2	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	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)		CAGGTCTCGAAAACCAAAGAA	0.512000												
SGK223	157285	broad.mit.edu	37	8	8234613	8234613	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:8234613C>T	uc003wsh.3	-	2	1306	c.1306G>A	c.(1306-1308)GCT>ACT	p.A436T		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	436	Poly-Ala.						ATP binding|non-membrane spanning protein tyrosine kinase activity				0						CCCTGGGCAGCAGCTGCATGT	0.607000												
GFRA2	2675	broad.mit.edu	37	8	21560414	21560414	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:21560414T>A	uc003wzu.1	-	7	1796	c.1121A>T	c.(1120-1122)CAG>CTG	p.Q374L	GFRA2_uc003wzv.1_Missense_Mutation_p.Q269L|GFRA2_uc003wzw.1_Missense_Mutation_p.Q241L	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	374						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)		CCGAGGGGCCTGGGTGGCCTG	0.627000												
FGF17	8822	broad.mit.edu	37	8	21905563	21905563	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:21905563G>A	uc003xag.2	+	5	466	c.454G>A	c.(454-456)GCC>ACC	p.A152T	FGF17_uc003xah.2_Missense_Mutation_p.A141T|FGF17_uc003xai.2_Missense_Mutation_p.A175T	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	152					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)		CTGGTTCATGGCCTTCACGCG	0.657000												
NEFM	4741	broad.mit.edu	37	8	24774588	24774588	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:24774588G>T	uc003xed.3	+	3	1253	c.1220G>T	c.(1219-1221)GGT>GTT	p.G407V	NEFM_uc011lac.1_Missense_Mutation_p.G407V|NEFM_uc010lue.2_Missense_Mutation_p.G31V	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	407	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)		CTCCTGGAGGGTGAAGAGACT	0.423000												
XKR4	114786	broad.mit.edu	37	8	56436707	56436707	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:56436707G>A	uc003xsf.2	+	3	1906	c.1874G>A	c.(1873-1875)TGT>TAT	p.C625Y		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	625						integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCTTTTGAATGTTCCCCATCT	0.448000												
GDF6	392255	broad.mit.edu	37	8	97157138	97157138	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:97157138G>A	uc003yhp.2	-	2	1121	c.1021C>T	c.(1021-1023)CGC>TGC	p.R341C		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	341					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)					TTGCCATGGCGACTGGCGAAG	0.428000												
PKHD1L1	93035	broad.mit.edu	37	8	110487423	110487423	+	Silent	SNP	T	T	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:110487423T>C	uc003yne.2	+	51	8786	c.8682T>C	c.(8680-8682)AAT>AAC	p.N2894N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2894	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)			CAAATGCAAATCACATTAACT	0.338000										HNSCC(38;0.096)		
RNF139	11236	broad.mit.edu	37	8	125499620	125499620	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:125499620A>G	uc003yrc.2	+	2	2073	c.1730A>G	c.(1729-1731)TAC>TGC	p.Y577C		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	ring finger protein 139	577	RING-type; atypical.			Missing: Increases proliferation. Rescues MHC class I to the cell surface. Fails to down-regulate SREBF1 and SREBF2.	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)			AAATGGCTGTACATTCAAGAT	0.363000									Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			
ASAP1	50807	broad.mit.edu	37	8	131146567	131146567	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:131146567C>A	uc003yta.1	-	14	1220	c.1192G>T	c.(1192-1194)GCA>TCA	p.A398S	ASAP1_uc003ysz.1_Missense_Mutation_p.A209S|ASAP1_uc011liw.1_Missense_Mutation_p.A391S	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	398	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						TCATCTTCTGCCTGAAAGTGA	0.338000												
EPPK1	83481	broad.mit.edu	37	8	144943893	144943893	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:144943893C>G	uc003zaa.1	-	1	3542	c.3529G>C	c.(3529-3531)GCC>CCC	p.A1177P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1177						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)			TGCACAGAGGCTAGCAGCTGT	0.677000												
KDM4C	23081	broad.mit.edu	37	9	7169838	7169838	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:7169838A>T	uc003zkh.2	+	21	3522	c.2942A>T	c.(2941-2943)GAG>GTG	p.E981V	KDM4C_uc003zkg.2_Missense_Mutation_p.E981V|KDM4C_uc011lmk.1_Missense_Mutation_p.E726V|KDM4C_uc011lml.1_Missense_Mutation_p.E668V	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	981	Tudor 2.				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						ATGAAGAGAGAGGACATCTAC	0.388000												
TLN1	7094	broad.mit.edu	37	9	35720037	35720037	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:35720037A>G	uc003zxt.2	-	13	1817	c.1463T>C	c.(1462-1464)CTG>CCG	p.L488P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	488					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)			GACACTTACCAGAGGAGGCAT	0.602000												
RECK	8434	broad.mit.edu	37	9	36102209	36102209	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:36102209C>T	uc003zyv.2	+	12	1503	c.1417C>T	c.(1417-1419)CCT>TCT	p.P473S	RECK_uc003zyw.2_Missense_Mutation_p.P345S|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	473						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)			GAATTGTATACCTTTGGATAC	0.338000												
LCN15	389812	broad.mit.edu	37	9	139658879	139658879	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:139658879T>A	uc004cjd.2	-	1	87	c.62A>T	c.(61-63)GAG>GTG	p.E21V		NM_203347	NP_976222	Q6UWW0	LCN15_HUMAN	lipocalin 15 precursor	21					lipid metabolic process	extracellular region	binding|transporter activity				0						CAGCAGAACCTCAGCCTGAGC	0.632000												
ABCA2	20	broad.mit.edu	37	9	139912242	139912242	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:139912242C>A	uc011mem.1	-	15	2353	c.2205G>T	c.(2203-2205)AAG>AAT	p.K735N	ABCA2_uc011mel.1_Missense_Mutation_p.K736N|ABCA2_uc004ckl.1_Missense_Mutation_p.K666N|ABCA2_uc004ckm.1_Missense_Mutation_p.K766N|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	735					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)		CGCGCACCTCCTTGAGCCGGT	0.697000												
PIGA	5277	broad.mit.edu	37	X	15342846	15342846	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:15342846T>A	uc004cwr.2	-	5	1229	c.1129A>T	c.(1129-1131)ATC>TTC	p.I377F	PIGA_uc010neu.2_Intron|PIGA_uc004cwq.2_Missense_Mutation_p.I62F|PIGA_uc010nev.2_Missense_Mutation_p.I208F|PIGA_uc004cws.2_Missense_Mutation_p.I62F|PIGA_uc011miq.1_Missense_Mutation_p.I143F	NM_002641	NP_002632	P37287	PIGA_HUMAN	phosphatidylinositol	377	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)					ATGTTATGGATGTTTTCTGGA	0.383000												
FAM47B	170062	broad.mit.edu	37	X	34962700	34962700	+	Silent	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:34962700C>T	uc004ddi.1	+	1	1770	c.1752C>T	c.(1750-1752)GAC>GAT	p.D584D		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	584										ovary(3)|breast(1)	4						ACATTCTTGACGGTCTTTATG	0.453000												
MAGEB16	139604	broad.mit.edu	37	X	35820338	35820338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:35820338C>T	uc010ngt.1	+	2	304	c.25C>T	c.(25-27)CGA>TGA	p.R9*		NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	9										lung(3)|ovary(2)|breast(1)|skin(1)	7						GGAGAGTCCACGATGCACACA	0.562000												
TAF1	6872	broad.mit.edu	37	X	70618460	70618460	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:70618460A>G	uc004dzu.3	+	24	3707	c.3656A>G	c.(3655-3657)GAG>GGG	p.E1219G	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.E1240G|TAF1_uc004dzv.3_Missense_Mutation_p.E393G	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1219	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)				CATCGGGAAGAGATGCGAAAA	0.468000												
CDX4	1046	broad.mit.edu	37	X	72667553	72667553	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:72667553G>C	uc011mqk.1	+	1	464	c.464G>C	c.(463-465)AGC>ACC	p.S155T		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					AGCCGCCACAGCCCCTATGCA	0.622000												
DACH2	117154	broad.mit.edu	37	X	85969556	85969556	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:85969556G>T	uc004eew.2	+	6	1107	c.937G>T	c.(937-939)GAT>TAT	p.D313Y	DACH2_uc004eex.2_Missense_Mutation_p.D300Y|DACH2_uc010nmq.2_Missense_Mutation_p.D179Y|DACH2_uc011mra.1_Missense_Mutation_p.D146Y|DACH2_uc010nmr.2_Missense_Mutation_p.D94Y|DACH2_uc004eey.2_5'UTR|DACH2_uc004eez.2_5'UTR	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN	dachshund 2 isoform a	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			ovary(4)|pancreas(1)	5						TTTAGGACTGGATCTGCCATT	0.348000												
ZMAT1	84460	broad.mit.edu	37	X	101138838	101138838	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:101138838G>C	uc004eim.2	-	2	4546	c.1048C>G	c.(1048-1050)CTC>GTC	p.L350V	ZMAT1_uc011mrl.1_Missense_Mutation_p.L521V|ZMAT1_uc004ein.2_Missense_Mutation_p.L350V|ZMAT1_uc011mrm.1_Missense_Mutation_p.L350V	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	350						nucleus	zinc ion binding			ovary(1)	1						TCTGAAGAGAGGTGCTTGTAA	0.418000												
TCEAL3	85012	broad.mit.edu	37	X	102864295	102864295	+	Silent	SNP	G	G	A			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:102864295G>A	uc004ekq.2	+	3	565	c.303G>A	c.(301-303)CCG>CCA	p.P101P	TCEAL3_uc004ekr.2_Silent_p.P101P	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AAAAGCGCCCGGCTGAAGATT	0.612000												
DOCK11	139818	broad.mit.edu	37	X	117744266	117744266	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:117744266A>T	uc004eqp.2	+	28	3044	c.2981A>T	c.(2980-2982)TAT>TTT	p.Y994F	DOCK11_uc004eqq.2_Missense_Mutation_p.Y760F	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	994					blood coagulation	cytosol	GTP binding			ovary(3)	3						CCCGAGACATATCATCATGTC	0.403000												
DDX26B	203522	broad.mit.edu	37	X	134711259	134711259	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:134711259A>T	uc004eyw.3	+	14	2278	c.1915A>T	c.(1915-1917)ACT>TCT	p.T639S	DDX26B_uc004eyx.3_Missense_Mutation_p.T240S	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	639											0	Acute lymphoblastic leukemia(192;6.56e-05)					AACACCACCTACTGTAACTAA	0.483000												
ARHGEF6	9459	broad.mit.edu	37	X	135861601	135861601	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:135861601A>T	uc004fab.2	-	2	683	c.221T>A	c.(220-222)CTG>CAG	p.L74Q		NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	74	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)					ACATCCTTTCAGGAAGTCATT	0.458000												
SLC10A3	8273	broad.mit.edu	37	X	153717161	153717161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:153717161C>T	uc004flq.2	-	3	383	c.119G>A	c.(118-120)TGG>TAG	p.W40*	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Nonsense_Mutation_p.W40*|SLC10A3_uc004flp.2_Nonsense_Mutation_p.W40*	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	40					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)					TTGGGCCCCCCATGGCAGGCT	0.657000												
MPP1	4354	broad.mit.edu	37	X	154020488	154020488	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:154020488C>T	uc004fmp.1	-	2	290	c.175G>A	c.(175-177)GCC>ACC	p.A59T	MPP1_uc010nvg.1_Missense_Mutation_p.A59T|MPP1_uc011mzv.1_Missense_Mutation_p.A29T|MPP1_uc004fmq.1_Missense_Mutation_p.A13T|MPP1_uc011mzw.1_Missense_Mutation_p.A59T|MPP1_uc010nvh.1_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	59					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)					TTGACCTGGGCAGGGCTACCT	0.542000												
FUNDC2	65991	broad.mit.edu	37	X	154282921	154282921	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chrX:154282921G>C	uc004fmw.2	+	5	694	c.544G>C	c.(544-546)GGC>CGC	p.G182R		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	182						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)					ATTTTTCGGAGGCTTTCTGCT	0.428000												
RLTPR	146206	broad.mit.edu	37	16	67686189	67686189	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:67686189delG	uc002etn.2	+	27	2884	c.2764delG	c.(2764-2766)GGGfs	p.G922fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.G915fs|RLTPR_uc010vjr.1_Frame_Shift_Del_p.G886fs|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	922	Pro-rich.									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)		CCTTGAGCCTGGGGAATTGGA	0.498												
ALDH16A1	126133	broad.mit.edu	37	19	49965150	49965150	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:49965150delG	uc002pnt.2	+	7	885	c.769delG	c.(769-771)GCCfs	p.A257fs	ALDH16A1_uc010yar.1_Intron|ALDH16A1_uc010yas.1_Frame_Shift_Del_p.A92fs|ALDH16A1_uc010yat.1_Frame_Shift_Del_p.A94fs	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	257							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)		GGAAGGGCGTGCCCTTCGACG	0.726												
TCP11	6954	broad.mit.edu	37	6	35088008	35088022	+	In_Frame_Del	DEL	AAAACACTGCCGGAG	AAAACACTGCCGGAG	-	rs2234046	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:35088008_35088022delAAAACACTGCCGGAG	uc003okd.2	-	8	1249_1263	c.1068_1082delCTCCGGCAGTGTTTT	c.(1066-1083)TTCTCCGGCAGTGTTTTG>TTG	p.FSGSV356del	TCP11_uc003ojz.1_In_Frame_Del_p.FSGSV281del|TCP11_uc003oka.2_In_Frame_Del_p.FSGSV281del|TCP11_uc003okb.2_In_Frame_Del_p.FSGSV280del|TCP11_uc003okc.2_In_Frame_Del_p.FSGSV280del|TCP11_uc011dsu.1_In_Frame_Del_p.FSGSV338del|TCP11_uc011dsv.1_In_Frame_Del_p.FSGSV305del|TCP11_uc011dsw.1_In_Frame_Del_p.FSGSV310del	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	343_347	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						TGAGCCAAACAAAACACTGCCGGAGAAACTACTGG	0.493												
WDR85	92715	broad.mit.edu	37	9	140468751	140468751	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr9:140468751delG	uc004cnk.1	-	5	707	c.549delC	c.(547-549)CCCfs	p.P183fs	WDR85_uc004cnl.1_Frame_Shift_Del_p.P7fs|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_Intron	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	WD repeat domain 85	183					peptidyl-diphthamide biosynthetic process from peptidyl-histidine						0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		TCTGCAGCCTGGGCCTCGTCT	0.537												
PRAMEF2	65122	broad.mit.edu	37	1	12921227	12921235	+	In_Frame_Del	DEL	CTAGGAGCT	CTAGGAGCT	-	rs1063789	byFrequency	TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:12921226_12921234CCTAGGAGCT>C	uc001aum.1	+	3	1104_1112	c.1017_1025CCTAGGAGCT>C	c.(1015-1026)cccctaggagct>ccCt	p.LGA340del		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	340										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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)		GTCTTGAACCCCTAGGAGCTCTGCTAGAG	0.536												
CSMD2	114784	broad.mit.edu	37	1	34209071	34209082	+	In_Frame_Del	DEL	GTTGAAGGCCAG	GTTGAAGGCCAG	-	rs138506777		TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:34209070_34209081CGTTGAAGGCCAG>C	uc001bxm.1	-	13	2150_2161	c.1973_1984CTGGCCTTCAACG>G	c.(1972-1986)ctggccttcaacgac>cGac	p.658_662LAFND>R	CSMD2_uc001bxn.1_In_Frame_Del_p.618_622LAFND>R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	618	CUB 4.					integral to membrane|plasma membrane	protein binding	p.H662R(1)|p.N621N(1)|p.S660I(1)		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)				ACGTCAATGTCGTTGAAGGCCAGGTGGATGCG	0.608												
NAV1	89796	broad.mit.edu	37	1	201789042	201789042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr1:201789041_201789041AC>A	uc021phi.1	+	29	5962	c.5615_5615AC>A	c.(5614-5616)aacfs	p.N1872fs	NAV1_uc001gwu.3_Frame_Shift_Del_p.N1869fs|NAV1_uc001gwx.3_Frame_Shift_Del_p.N1478fs	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1872					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						CTGGACCCCAACCTTCAGGCA	0.517												
NCKAP5	344148	broad.mit.edu	37	2	133542843	133542850	+	Frame_Shift_Del	DEL	CAGCCAAA	CAGCCAAA	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr2:133542842_133542849CCAGCCAAA>C	uc002ttp.3	-	13	1909_1916	c.1535_1542TTTGGCTGG>G	c.(1534-1542)tttggctggfs	p.F512fs	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	512							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						TGTTTGTCTCCCAGCCAAACAGACTGTC	0.500												
AGER	177	broad.mit.edu	37	6	32148965	32148975	+	Frame_Shift_Del	DEL	CTGATTCAGTT	CTGATTCAGTT	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:32148964_32148974ACTGATTCAGTT>A	uc003oal.2	-	10	1261_1271	c.1161_1171AACTGAATCAGT>T	c.(1159-1173)gaactgaatcagtcgfs	p.E387fs	AGER_uc021yvm.1_3'UTR|AGER_uc021yvn.1_3'UTR|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_Frame_Shift_Del_p.E195fs|AGER_uc021yvq.1_3'UTR|AGER_uc011dpn.2_Stop_Codon_Del|AGER_uc011dpm.2_Frame_Shift_Del_p.E277fs|AGER_uc003oap.2_Frame_Shift_Del_p.E403fs|AGER_uc021yvr.1_Intron|AGER_uc003oam.2_Non-coding_Transcript|AGER_uc003oau.2_3'UTR|AGER_uc003oas.2_Stop_Codon_Del|AGER_uc010jtv.2_Stop_Codon_Del|AGER_uc003oar.3_Frame_Shift_Del_p.E286fs|AGER_uc003oaq.2_Frame_Shift_Del_p.E373fs|AGER_uc003oat.2_3'UTR|AGER_uc003oan.2_Frame_Shift_Del_p.T336fs|AGER_uc011dpo.2_Stop_Codon_Del|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_3'UTR	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	387					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	p.L388M(2)		breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GGTTCCTCCGACTGATTCAGTTCTGCACGCT	0.573												
B3GAT2	135152	broad.mit.edu	37	6	71571445	71571450	+	In_Frame_Del	DEL	ACGAGA	ACGAGA	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr6:71571444_71571449CACGAGA>C	uc003pfw.3	-	2	1625_1630	c.969_974TCTCGTG>G	c.(967-975)ttctcgtgt>ttGt	p.323_325FSC>L	SMAP1_uc003pfr.3_3'UTR|SMAP1_uc003pfs.3_3'UTR|SMAP1_uc010kao.3_3'UTR|SMAP1_uc010kap.3_3'UTR|B3GAT2_uc003pfv.3_In_Frame_Del_p.LV297del			Q9NPZ5	B3GA2_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) (B3GAT2), mRNA.	0					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAGTGTGCCACACGAGAACCTGAAGG	0.481												
TOX	9760	broad.mit.edu	37	8	59750777	59750787	+	Frame_Shift_Del	DEL	TCTGGGGCTCA	TCTGGGGCTCA	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:59750776_59750786TTCTGGGGCTCA>T	uc003xtw.1	-	4	999_1009	c.778_788TGAGCCCCAGAA>A	c.(778-789)gagccccagaagfs	p.E260fs		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	260						nucleus	DNA binding			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)				AGACACAGGCTTCTGGGGCTCATTGGGATCC	0.464												
FER1L6	654463	broad.mit.edu	37	8	125015451	125015472	+	Frame_Shift_Del	DEL	AAGAAGTCAGCTGAATCAGCTG	AAGAAGTCAGCTGAATCAGCTG	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr8:125015450_125015471TAAGAAGTCAGCTGAATCAGCTG>T	uc003yqw.3	+	12	1769_1790	c.1563_1584TAAGAAGTCAGCTGAATCAGCTG>T	c.(1561-1584)agtaagaagtcagctgaatcagctfs	p.S521fs	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	521						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)			ATCATGGGAGTAAGAAGTCAGCTGAATCAGCTGAAGAAGACC	0.527												
HECTD1	25831	broad.mit.edu	37	14	31626445	31626459	+	In_Frame_Del	DEL	CTTCTTTTAACAGTG	CTTCTTTTAACAGTG	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr14:31626444_31626458ACTTCTTTTAACAGTG>A	uc001wrc.1	-	10	2163_2177	c.1674_1688CACTGTTAAAAGAAGT>T	c.(1672-1689)gcactgttaaaagaagtt>gcTt	p.LLKEV559del	HECTD1_uc001wrd.1_In_Frame_Del_p.LLKEV74del	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	559					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)		AGAATCACAAACTTCTTTTAACAGTGCTTCAGAGC	0.330												
ANKRD11	29123	broad.mit.edu	37	16	89357231	89357231	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr16:89357230_89357230GT>G	uc002fmx.1	-	5	865	c.404_404AC>C	c.(403-405)acafs	p.T135fs	ANKRD11_uc002fmy.1_Frame_Shift_Del_p.T135fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.T135fs|ANKRD11_uc002fnd.3_Frame_Shift_Del_p.T101fs|ANKRD11_uc002fne.3_Frame_Shift_Del_p.T101fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.T92fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	135						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)		CTTTGGTGTTGTGTCCACTGC	0.537												
MAP2K4	6416	broad.mit.edu	37	17	12013711	12013722	+	In_Frame_Del	DEL	ACTTAAAAGAAA	ACTTAAAAGAAA	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:12013710_12013721CACTTAAAAGAAA>C	uc002gnj.3	+	5	721_732	c.652_663CACTTAAAAGAAA>C	c.(652-663)cacttaaaagaa>C	p.HLKE218del	MAP2K4_uc002gnk.3_In_Frame_Del_p.HLKE229del|MAP2K4_uc010vvi.2_In_Frame_Del_p.HLKE100del|MAP2K4_uc010vvj.2_In_Frame_Del_p.HLKE90del	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	218	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|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	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.E221*(4)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		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)		AGCACTAAACCACTTAAAAGAAAACTTGAAAA	0.311			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""							
CCDC47	57003	broad.mit.edu	37	17	61829423	61829443	+	In_Frame_Del	DEL	GTTCTCTTCTACTCGGGCACG	GTTCTCTTCTACTCGGGCACG	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:61829422_61829442AGTTCTCTTCTACTCGGGCACG>A	uc002jbs.4	-	11	1565_1585	c.1229_1249CGTGCCCGAGTAGAAGAGAACT>T	c.(1228-1251)cgtgcccgagtagaagagaacttc>cTtc	p.410_417RARVEENF>L	CCDC47_uc010ddx.3_In_Frame_Del_p.410_417RARVEENF>L|CCDC47_uc002jbt.2_In_Frame_Del_p.410_417RARVEENF>L	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	410						integral to membrane	protein binding	p.R412R(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AGTTTCAAGAAGTTCTCTTCTACTCGGGCACGGTTCTTATC	0.430												
HGS	9146	broad.mit.edu	37	17	79667525	79667555	+	Frame_Shift_Del	DEL	CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC	CCCAGCAGGGGCCACTGGGGCGCAGGCGGCC	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr17:79667524_79667554ACCCAGCAGGGGCCACTGGGGCGCAGGCGGCC>A	uc002kbg.3	+	18	2045_2075	c.1910_1940ACCCAGCAGGGGCCACTGGGGCGCAGGCGGCC>A	c.(1909-1941)tacccagcaggggccactggggcgcaggcggccfs	p.Y637fs	SLC25A10_uc002kbh.2_5'Flank|SLC25A10_uc010wut.2_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	637	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCCTACATGTACCCAGCAGGGGCCACTGGGGCGCAGGCGGCCCCCCAGGCC	0.645												
ZNF799	90576	broad.mit.edu	37	19	12491160	12491168	+	In_Frame_Del	DEL	TCTTTGAAA	TCTTTGAAA	-			TCGA-HU-A4H5-01A-21D-A25D-08	TCGA-HU-A4H5-11A-11D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26e080d1-cf7d-47c4-b396-034204ca8b04	aa498ac3-968f-488a-a476-d8d2b398fb49	g.chr19:12491159_12491167GTCTTTGAAA>G	uc002mts.4	-	3	1429_1437	c.909_917TTTCAAAGAC>C	c.(907-918)atttcaaagaca>atCa	p.SKT304del				Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	607					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						GTCCTTTCATGTCTTTGAAATCCAATGAA	0.383												
