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
TTLL10	254173	broad.mit.edu	37	1	1115538	1115538	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1115538T>C	uc001acy.2	+	6	475	c.324T>C	c.(322-324)TCT>TCC	p.S108S	uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.S108S|TTLL10_uc001acz.1_Silent_p.S35S	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	108					protein modification process		ATP binding|tubulin-tyrosine ligase activity			large_intestine(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AAAGAGCCTCTGCCACACCCG	0.692000												
VWA1	64856	broad.mit.edu	37	1	1372677	1372677	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1372677C>T	uc001afs.2	+	2	664	c.444C>T	c.(442-444)AGC>AGT	p.S148S	VWA1_uc001afr.2_Intron	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	148	VWFA.					basement membrane					0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGGCTCCAGCGACCCTGTGG	0.642000												
CDK11B	984	broad.mit.edu	37	1	1573143	1573143	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1573143G>T	uc001agv.1	-	17	1556	c.1445C>A	c.(1444-1446)CCC>CAC	p.P482H	CDK11B_uc009vkj.2_Missense_Mutation_p.P139H|CDK11B_uc001ags.1_Missense_Mutation_p.P340H|CDK11B_uc001agt.1_Missense_Mutation_p.P265H|CDK11B_uc001aha.1_Missense_Mutation_p.P448H|CDK11B_uc001agw.1_Missense_Mutation_p.P437H|CDK11B_uc001agy.1_Missense_Mutation_p.P480H|CDK11B_uc001agx.1_Missense_Mutation_p.P471H|CDK11B_uc001agz.1_Missense_Mutation_p.P226H	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	495	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						GACGATGTTGGGATGCTGGGC	0.607000												
CDK11B	984	broad.mit.edu	37	1	1575717	1575717	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1575717C>A	uc001agv.1	-	15	1283	c.1172G>T	c.(1171-1173)GGC>GTC	p.G391V	CDK11B_uc009vkj.2_Missense_Mutation_p.G48V|CDK11B_uc001ags.1_Missense_Mutation_p.G249V|CDK11B_uc001agt.1_Missense_Mutation_p.G174V|CDK11B_uc001aha.1_Missense_Mutation_p.G357V|CDK11B_uc001agw.1_Missense_Mutation_p.G346V|CDK11B_uc001agy.1_Missense_Mutation_p.G389V|CDK11B_uc001agx.1_Missense_Mutation_p.G380V|CDK11B_uc001agz.1_Missense_Mutation_p.G135V	NM_033486	NP_277021	P21127	CD11B_HUMAN	cell division cycle 2-like 1 (PITSLRE proteins)	404					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			skin(1)	1						CACATAGTCGCCCTCTGTCAG	0.657000												
CDK11A	728642	broad.mit.edu	37	1	1635978	1635978	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1635978C>T	uc010nys.1	-	14	1653	c.1545G>A	c.(1543-1545)GCG>GCA	p.A515A	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Intron|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Intron|CDK11A_uc009vks.2_Intron			Q9UQ88	CD11A_HUMAN	SubName: Full=Cell division cycle 2-like 2 (PITSLRE proteins);	Error:Variant_position_missing_in_Q9UQ88_after_alignment					apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1						GACCCCGGGGCGCGGCTGTAC	0.612000												
SLC35E2	9906	broad.mit.edu	37	1	1663938	1663938	+	Missense_Mutation	SNP	C	C	T	rs143259268		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:1663938C>T	uc001aib.1	-	6	1173	c.757G>A	c.(757-759)GCC>ACC	p.A253T	SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|SLC35E2_uc001ahy.2_Intron|SLC35E2_uc001ahz.2_Intron|uc001aia.1_5'Flank	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	253						integral to membrane				pancreas(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ATGGACAAGGCGACTCGGTGC	0.612000												
C1orf86	199990	broad.mit.edu	37	1	2125206	2125206	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:2125206G>A	uc001aiy.2	-	3	368	c.342C>T	c.(340-342)CCC>CCT	p.P114P	C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Missense_Mutation_p.P110L	NM_182533	NP_872339	Q6NZ36	CA086_HUMAN	hypothetical protein LOC199990 isoform 2	114											0	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGGACCTGGCGGGGGATTCCA	0.726000												
NPHP4	261734	broad.mit.edu	37	1	5951051	5951051	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:5951051A>G	uc001alq.1	-	17	2447	c.2181T>C	c.(2179-2181)CCT>CCC	p.P727P	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	727					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGGAACCCAGGGCCCACCA	0.577000												
ICMT	23463	broad.mit.edu	37	1	6294985	6294985	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:6294985A>G	uc001amk.2	-	2	318	c.245T>C	c.(244-246)CTG>CCG	p.L82P	ICMT_uc001aml.2_5'UTR|uc001amm.2_5'Flank	NM_012405	NP_036537	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	82	Helical; (Potential).				protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AAAACTTAGCAGCGTGCCGCA	0.498000												
DNAJC11	55735	broad.mit.edu	37	1	6704704	6704704	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:6704704G>A	uc001aof.2	-	10	1117	c.1011C>T	c.(1009-1011)TAC>TAT	p.Y337Y	DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Silent_p.Y337Y|DNAJC11_uc010nzu.1_Silent_p.Y247Y	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	337					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)|skin(1)	2	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGCTCCGTACTCCACCA	0.537000												
SLC2A7	155184	broad.mit.edu	37	1	9073610	9073610	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:9073610C>T	uc009vmo.1	-	8	988	c.988G>A	c.(988-990)GTC>ATC	p.V330I		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	330	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		ACTATGTTGACGACGCCAGAG	0.572000												
SLC2A7	155184	broad.mit.edu	37	1	9073627	9073627	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:9073627G>A	uc009vmo.1	-	8	971	c.971C>T	c.(970-972)ACG>ATG	p.T324M		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	324	Helical; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGCCCACCGTTACATATTG	0.577000												
TMEM201	199953	broad.mit.edu	37	1	9661455	9661455	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:9661455T>C	uc001apz.2	+	5	911	c.899T>C	c.(898-900)GTC>GCC	p.V300A	TMEM201_uc001apy.2_Missense_Mutation_p.V300A	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	300	Helical; (Potential).					integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CAGACGGGCGTCGTGGCACTG	0.697000												
UBE4B	10277	broad.mit.edu	37	1	10231304	10231304	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:10231304C>G	uc001aqs.3	+	25	4155	c.3442C>G	c.(3442-3444)CCA>GCA	p.P1148A	UBE4B_uc001aqr.3_Missense_Mutation_p.P1019A|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.P603A|UBE4B_uc001aqu.2_Missense_Mutation_p.P29A	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1148					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CGGCTTTGAACCAAAGAAGCT	0.488000												
KIF1B	23095	broad.mit.edu	37	1	10355753	10355753	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:10355753T>C	uc001aqx.3	+	19	1908	c.1706T>C	c.(1705-1707)ATA>ACA	p.I569T	KIF1B_uc001aqv.3_Missense_Mutation_p.I523T|KIF1B_uc001aqw.3_Missense_Mutation_p.I523T|KIF1B_uc001aqy.2_Missense_Mutation_p.I543T|KIF1B_uc001aqz.2_Missense_Mutation_p.I569T|KIF1B_uc001ara.2_Missense_Mutation_p.I529T|KIF1B_uc001arb.2_Missense_Mutation_p.I555T	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	569	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGCCAGGACATAGTGCTGAGC	0.512000												
PEX14	5195	broad.mit.edu	37	1	10690008	10690008	+	Silent	SNP	G	G	A	rs139610784		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:10690008G>A	uc001arn.2	+	9	1119	c.1098G>A	c.(1096-1098)CGG>CGA	p.R366R	PEX14_uc009vmv.2_Silent_p.R302R|PEX14_uc010oam.1_Silent_p.R302R|PEX14_uc010oan.1_Silent_p.R323R|PEX14_uc009vmw.2_Silent_p.R302R	NM_004565	NP_004556	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	366					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(1)	1	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGCGGCGGCCCGAGGGCG	0.682000												
TARDBP	23435	broad.mit.edu	37	1	11076929	11076929	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:11076929T>C	uc001art.2	+	3	401	c.267T>C	c.(265-267)GAT>GAC	p.D89D	TARDBP_uc010oap.1_Intron	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	89					3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		ATGAGACAGATGCTTCATCAG	0.378000												
PTCHD2	57540	broad.mit.edu	37	1	11580781	11580781	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:11580781C>T	uc001ash.3	+	10	2376	c.2238C>T	c.(2236-2238)TTC>TTT	p.F746F	PTCHD2_uc001asi.1_Silent_p.F746F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	746	Helical; (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCTGGTGTTCGCCAGCCGGC	0.662000												
PTCHD2	57540	broad.mit.edu	37	1	11591751	11591751	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:11591751C>T	uc001ash.3	+	17	3497	c.3359C>T	c.(3358-3360)TCC>TTC	p.S1120F		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1120	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTGGATCTCCATGGCTTTC	0.627000												
PLOD1	5351	broad.mit.edu	37	1	12012687	12012687	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:12012687C>T	uc001atm.2	+	5	565	c.474C>T	c.(472-474)ATC>ATT	p.I158I	PLOD1_uc010obb.1_Silent_p.I205I	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	lysyl hydroxylase 1 precursor	158					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			ovary(2)|breast(1)	3	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGGCTTCATCGGTTATGCCC	0.587000												
AADACL3	126767	broad.mit.edu	37	1	12785194	12785194	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:12785194G>A	uc009vnn.1	+	4	517	c.284G>A	c.(283-285)CGC>CAC	p.R95H	AADACL3_uc001aug.1_Missense_Mutation_p.R25H	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	95							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGTTACCGCAAGTTACCT	0.463000												
PDPN	10630	broad.mit.edu	37	1	13910569	13910569	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:13910569C>T	uc001avd.2	+	1	318	c.269C>T	c.(268-270)GCG>GTG	p.A90V	PDPN_uc001avc.2_Missense_Mutation_p.A90V|PDPN_uc009vob.2_5'Flank|PDPN_uc009voc.2_5'Flank|PDPN_uc001ave.2_5'Flank|PDPN_uc001avf.2_5'Flank	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	lung type-I cell membrane-associated	14					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				ovary(2)	2	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTGGGAAGCGCGTCGCTCTGG	0.607000												
ATP13A2	23400	broad.mit.edu	37	1	17318615	17318615	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:17318615T>C	uc001baa.2	-	19	2205	c.2015A>G	c.(2014-2016)GAC>GGC	p.D672G	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Missense_Mutation_p.D667G|ATP13A2_uc001bac.2_Missense_Mutation_p.D667G	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	672	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CTGGGCGAAGTCGGTGGGCAC	0.657000												
TAS1R2	80834	broad.mit.edu	37	1	19166440	19166440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19166440G>A	uc001bba.1	-	6	2174	c.2173C>T	c.(2173-2175)CGC>TGC	p.R725C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	725	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGCTGTTGCGGTAGTTGGGG	0.567000												
KIAA0090	23065	broad.mit.edu	37	1	19549207	19549207	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19549207A>G	uc001bbo.2	-	20	2541	c.2498T>C	c.(2497-2499)GTC>GCC	p.V833A	KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Missense_Mutation_p.V832A|KIAA0090_uc001bbq.2_Missense_Mutation_p.V832A|KIAA0090_uc001bbr.2_Missense_Mutation_p.V811A	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor	833	DUF1620.|Extracellular (Potential).					integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CTGCTGGAGGACCTGGGGCAG	0.617000												
KIAA0090	23065	broad.mit.edu	37	1	19557753	19557753	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19557753A>G	uc001bbo.2	-	16	1987	c.1944_splice	c.e16+1	p.K648_splice	KIAA0090_uc001bbp.2_Splice_Site_p.K647_splice|KIAA0090_uc001bbq.2_Splice_Site_p.K647_splice|KIAA0090_uc001bbr.2_Splice_Site_p.K626_splice	NM_015047	NP_055862	Q8N766	K0090_HUMAN	hypothetical protein LOC23065 precursor							integral to membrane	protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TGAAGACAGTACCTTGTATTC	0.562000												
AKR7A3	22977	broad.mit.edu	37	1	19612726	19612726	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19612726T>C	uc001bbv.1	-	2	432	c.355A>G	c.(355-357)ACC>GCC	p.T119A		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	119					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCGGGGTGCTGTGGTCT	0.622000												
AKR7A3	22977	broad.mit.edu	37	1	19612765	19612765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19612765G>A	uc001bbv.1	-	2	393	c.316C>T	c.(316-318)CGA>TGA	p.R106*		NM_012067	NP_036199	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3	106					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTCCACTCGGGGACACTGC	0.592000												
AKR7A2	8574	broad.mit.edu	37	1	19638351	19638351	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:19638351C>A	uc001bbw.2	-	1	290	c.268G>T	c.(268-270)GGG>TGG	p.G90W	AKR7A2_uc001bbx.2_Missense_Mutation_p.G90W|AKR7A2_uc009vpi.1_Missense_Mutation_p.G90W|PQLC2_uc001bby.2_5'Flank|PQLC2_uc001bbz.2_5'Flank|PQLC2_uc001bca.2_5'Flank|PQLC2_uc001bcb.2_5'Flank|PQLC2_uc001bcc.2_5'Flank	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	90					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCGAGCCCCAGGCCGCCC	0.687000												
PLA2G2A	5320	broad.mit.edu	37	1	20304571	20304571	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:20304571G>A	uc001bcu.2	-	4	447	c.229C>T	c.(229-231)CGT>TGT	p.R77C	PLA2G2A_uc001bcv.2_Missense_Mutation_p.R77C|PLA2G2A_uc010oda.1_Missense_Mutation_p.R77C|PLA2G2A_uc010odb.1_Missense_Mutation_p.R77C	NM_001161729	NP_001155201	P14555	PA2GA_HUMAN	phospholipase A2, group IIA precursor	77					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACATCCACGTTTCTCCAGA	0.537000												
UBXN10	127733	broad.mit.edu	37	1	20517794	20517794	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:20517794C>A	uc001bdb.2	+	2	824	c.740C>A	c.(739-741)CCC>CAC	p.P247H		NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	247	UBX.									ovary(1)	1						ATGGAGGTGCCCAGGAGGCGA	0.517000												
HSPG2	3339	broad.mit.edu	37	1	22178356	22178356	+	Missense_Mutation	SNP	G	G	A	rs139721678		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:22178356G>A	uc001bfj.2	-	54	6974	c.6934C>T	c.(6934-6936)CGG>TGG	p.R2312W	HSPG2_uc009vqd.2_Missense_Mutation_p.R2313W	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2312	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTGCTGGCCCGGCAGACGTAC	0.672000												
CELA3B	23436	broad.mit.edu	37	1	22304927	22304927	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:22304927C>T	uc001bfk.2	+	2	224	c.109C>T	c.(109-111)CCC>TCC	p.P37S	CELA3B_uc009vqf.2_Missense_Mutation_p.P36S	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B, pancreatic preproprotein	37	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GGATGCGGTCCCCTACAGCTG	0.617000												
NIPAL3	57185	broad.mit.edu	37	1	24782721	24782721	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:24782721T>C	uc001bjh.2	+	8	1138	c.731T>C	c.(730-732)GTG>GCG	p.V244A	NIPAL3_uc001bjg.2_Missense_Mutation_p.V244A|NIPAL3_uc009vrc.2_Missense_Mutation_p.V162A|NIPAL3_uc001bji.2_Missense_Mutation_p.V19A	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	244	Helical; (Potential).					integral to membrane					0						ATCTTCTACGTGATGTTCGTG	0.552000												
SRRM1	10250	broad.mit.edu	37	1	24979063	24979063	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:24979063G>A	uc001bjm.2	+	7	1088	c.864G>A	c.(862-864)ACG>ACA	p.T288T	SRRM1_uc010oel.1_Silent_p.T288T|SRRM1_uc009vrh.1_Silent_p.T249T|SRRM1_uc009vri.1_Silent_p.T205T|SRRM1_uc010oem.1_RNA	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	288	Pro-rich.|Arg-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GATCCCGGACGCGGTCCCGCT	0.478000												
GPATCH3	63906	broad.mit.edu	37	1	27223980	27223980	+	Silent	SNP	G	G	T	rs138133219	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:27223980G>T	uc001bne.2	-	2	717	c.688C>A	c.(688-690)CGG>AGG	p.R230R	GPATCH3_uc009vsp.1_Silent_p.R41R	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	230						intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CCGTAGCGCCGGGAGGAACCT	0.572000												
WDTC1	23038	broad.mit.edu	37	1	27631505	27631505	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:27631505A>G	uc009vst.2	+	15	2192	c.1657A>G	c.(1657-1659)ATC>GTC	p.I553V	WDTC1_uc001bno.2_Missense_Mutation_p.I552V|WDTC1_uc001bnp.1_Intron|WDTC1_uc001bnq.2_Missense_Mutation_p.I231V	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	553	WD 6.						protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CGCTCAGTATATCGTCAGTGG	0.582000												
AHDC1	27245	broad.mit.edu	37	1	27878317	27878317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:27878317C>T	uc009vsy.2	-	6	1279	c.310G>A	c.(310-312)GGC>AGC	p.G104S	AHDC1_uc009vsz.1_Missense_Mutation_p.G104S|AHDC1_uc001boh.1_5'UTR	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	104	Pro-rich.						DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGCTGCTGCCGTCTCCGACC	0.692000												
RCC1	1104	broad.mit.edu	37	1	28858744	28858744	+	Missense_Mutation	SNP	C	C	T	rs150426843		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:28858744C>T	uc001bqg.1	+	4	408	c.323C>T	c.(322-324)TCG>TTG	p.S108L	SNHG3-RCC1_uc001bqa.1_Missense_Mutation_p.S108L|SNHG3-RCC1_uc001bqb.1_Missense_Mutation_p.S108L|SNHG3-RCC1_uc001bqc.1_Missense_Mutation_p.S108L|RCC1_uc001bqe.1_Missense_Mutation_p.S125L|RCC1_uc001bqf.1_Missense_Mutation_p.S139L	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	108	RCC1 2.				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGAGGGCTCGGAGATGGTC	0.577000												
YTHDF2	51441	broad.mit.edu	37	1	29070128	29070128	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:29070128T>C	uc001brc.2	+	4	1843	c.1346T>C	c.(1345-1347)ATG>ACG	p.M449T	YTHDF2_uc001brd.2_Missense_Mutation_p.M446T|YTHDF2_uc010ofx.1_Missense_Mutation_p.M399T|YTHDF2_uc001bre.2_Missense_Mutation_p.M399T	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	449	YTH.				humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TATCGTTCCATGAACGGGAAA	0.458000												
SPOCD1	90853	broad.mit.edu	37	1	32256815	32256815	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:32256815G>A	uc001bts.1	-	16	3098	c.3040C>T	c.(3040-3042)CTG>TTG	p.L1014L	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btt.2_Silent_p.L306L|SPOCD1_uc001btu.2_Silent_p.L1001L|SPOCD1_uc001btv.2_Silent_p.L494L	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1014					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTGGGGAGCAGCACAGCCAGC	0.562000												
SPOCD1	90853	broad.mit.edu	37	1	32259828	32259828	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:32259828C>A	uc001bts.1	-	11	2338	c.2280G>T	c.(2278-2280)CAG>CAT	p.Q760H	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btt.2_Missense_Mutation_p.Q65H|SPOCD1_uc001btu.2_Missense_Mutation_p.Q760H|SPOCD1_uc001btv.2_Missense_Mutation_p.Q253H	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	760					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCATGAACATCTGCGGTCCCT	0.622000												
YARS	8565	broad.mit.edu	37	1	33245788	33245788	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:33245788G>A	uc001bvy.1	-	11	2020	c.1232C>T	c.(1231-1233)CCC>CTC	p.P411L	YARS_uc001bvw.1_Missense_Mutation_p.P71L|YARS_uc001bvx.1_Missense_Mutation_p.P62L	NM_003680	NP_003671	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	411	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCCTCCTTGGGCACGAACTG	0.572000												
ZSCAN20	7579	broad.mit.edu	37	1	33957297	33957297	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:33957297G>A	uc001bxj.3	+	6	1606	c.1439G>A	c.(1438-1440)CGT>CAT	p.R480H	ZSCAN20_uc001bxk.2_Missense_Mutation_p.R426H|ZSCAN20_uc009vui.2_Missense_Mutation_p.R480H	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	480					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCCAGAGTCGTATTGGTAAG	0.542000												
CSMD2	114784	broad.mit.edu	37	1	34038130	34038130	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:34038130G>A	uc001bxn.1	-	51	7773	c.7744C>T	c.(7744-7746)CGC>TGC	p.R2582C	CSMD2_uc001bxm.1_Missense_Mutation_p.R2580C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2582	Extracellular (Potential).|Sushi 15.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGACATTGCGGTTGCTCCAT	0.592000												
DLGAP3	58512	broad.mit.edu	37	1	35370000	35370000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:35370000G>A	uc001byc.2	-	1	985	c.985C>T	c.(985-987)CGA>TGA	p.R329*		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	329					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)				CAGGCACTTCGCTTGACCGAC	0.662000												
ZMYM6	9204	broad.mit.edu	37	1	35457859	35457859	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:35457859T>C	uc001byh.2	-	15	2350	c.2122A>G	c.(2122-2124)ACA>GCA	p.T708A	ZMYM6_uc001byf.1_Missense_Mutation_p.T708A|ZMYM6_uc010oht.1_Missense_Mutation_p.T611A|ZMYM6_uc009vup.2_Missense_Mutation_p.T514A|ZMYM6_uc009vuq.1_Missense_Mutation_p.T708A	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	708					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTGTGCTGTGTATGTGGTTTG	0.418000												
CSF3R	1441	broad.mit.edu	37	1	36935359	36935359	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:36935359A>G	uc001caw.1	-	11	1546	c.1368T>C	c.(1366-1368)CCT>CCC	p.P456P	CSF3R_uc001cat.1_Silent_p.P19P|CSF3R_uc009vvc.1_Silent_p.P19P|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Silent_p.P456P|CSF3R_uc001cax.1_Silent_p.P456P|CSF3R_uc001cay.1_Silent_p.P456P	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	456	Extracellular (Potential).|Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CATAGCCCTGAGGCCATGGAT	0.632000												
MACF1	23499	broad.mit.edu	37	1	39926431	39926431	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:39926431C>A	uc010oiu.1	+	57	16948	c.16817C>A	c.(16816-16818)ACA>AAA	p.T5606K	MACF1_uc010ois.1_Missense_Mutation_p.T5104K|MACF1_uc001cde.1_5'Flank|MACF1_uc001cdf.1_5'Flank	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7062	1 (Potential).|EF-hand 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGAAGATAACACGTCAGGAG	0.443000												
HEYL	26508	broad.mit.edu	37	1	40092677	40092677	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:40092677C>T	uc001cdp.2	-	5	540	c.489G>A	c.(487-489)TCG>TCA	p.S163S	HEYL_uc010oiw.1_Silent_p.S135S	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	163	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGGGCGTGGGCGAAGGCTCCA	0.657000												
NT5C1A	84618	broad.mit.edu	37	1	40129045	40129045	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:40129045G>T	uc001cdq.1	-	4	495	c.495C>A	c.(493-495)GCC>GCA	p.A165A		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	165					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGGTGTGATAGGCCTTGAGGT	0.532000												
PPIE	10450	broad.mit.edu	37	1	40205879	40205879	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:40205879C>T	uc001cds.1	+	2	117	c.74C>T	c.(73-75)GCG>GTG	p.A25V	PPIE_uc001cdt.1_5'UTR|PPIE_uc010oiy.1_5'UTR|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.A25V|PPIE_uc001cdw.2_Missense_Mutation_p.A25V|PPIE_uc001cdx.1_5'Flank	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E isoform 1	25	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding				0	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTTCATGCTGCGTTCATTCCT	0.453000												
TIE1	7075	broad.mit.edu	37	1	43773243	43773243	+	Missense_Mutation	SNP	G	G	T	rs138017811		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:43773243G>T	uc001ciu.2	+	6	992	c.913G>T	c.(913-915)GCT>TCT	p.A305S	TIE1_uc010okd.1_Missense_Mutation_p.A305S|TIE1_uc010oke.1_Missense_Mutation_p.A260S|TIE1_uc009vwq.2_Missense_Mutation_p.A261S|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Missense_Mutation_p.V305F	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	305	EGF-like 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGCCAAGAAGGTATGCCTAA	0.612000												
TIE1	7075	broad.mit.edu	37	1	43778821	43778821	+	Missense_Mutation	SNP	G	G	A	rs67868228		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:43778821G>A	uc001ciu.2	+	13	2022	c.1943G>A	c.(1942-1944)CGA>CAA	p.R648Q	TIE1_uc010okd.1_Missense_Mutation_p.R648Q|TIE1_uc010oke.1_Missense_Mutation_p.R603Q|TIE1_uc009vwq.2_Missense_Mutation_p.R604Q|TIE1_uc010okf.1_Missense_Mutation_p.R293Q|TIE1_uc010okg.1_Missense_Mutation_p.R293Q	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	648	Fibronectin type-III 3.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGCCCCCCGACACCTCCAC	0.627000												
PTPRF	5792	broad.mit.edu	37	1	44086873	44086873	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:44086873T>C	uc001cjr.2	+	33	5965	c.5625T>C	c.(5623-5625)CGT>CGC	p.R1875R	PTPRF_uc001cjs.2_Silent_p.R1866R|PTPRF_uc001cju.2_Silent_p.R1264R|PTPRF_uc009vwt.2_Silent_p.R1435R|PTPRF_uc001cjv.2_Silent_p.R1346R|PTPRF_uc001cjw.2_Silent_p.R1101R	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1875	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGACCCTGCGTACACAGCGTC	0.632000												
DMAP1	55929	broad.mit.edu	37	1	44684864	44684864	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:44684864G>A	uc001clq.1	+	7	937	c.857G>A	c.(856-858)CGC>CAC	p.R286H	DMAP1_uc001clr.1_Missense_Mutation_p.R286H|DMAP1_uc001cls.1_Missense_Mutation_p.R286H|DMAP1_uc010oku.1_Missense_Mutation_p.R276H	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	286					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding				0	Acute lymphoblastic leukemia(166;0.155)					CGCACGGAACGCAAGGCCCCC	0.612000												
EIF2B3	8891	broad.mit.edu	37	1	45345566	45345566	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:45345566C>T	uc001cmt.1	-	8	1026	c.899G>A	c.(898-900)TGC>TAC	p.C300Y	EIF2B3_uc001cmu.1_Missense_Mutation_p.C300Y|EIF2B3_uc001cmv.1_Missense_Mutation_p.C300Y|EIF2B3_uc001cmw.2_Missense_Mutation_p.C300Y	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	300					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GTGGACATAGCAGCGCACCTG	0.502000												
LRRC41	10489	broad.mit.edu	37	1	46745947	46745947	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:46745947A>G	uc001cpn.2	-	7	1981	c.1937T>C	c.(1936-1938)CTG>CCG	p.L646P	LRRC41_uc010omb.1_Missense_Mutation_p.L646P	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	646	LRR 5.									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CAGTCTTTTCAGGGCTAGGTT	0.483000												
MKNK1	8569	broad.mit.edu	37	1	47030770	47030770	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:47030770A>G	uc001cqb.2	-	10	955	c.711T>C	c.(709-711)AGT>AGC	p.S237S	MKNK1_uc010omd.1_Silent_p.S101S|MKNK1_uc001cqc.2_Silent_p.S196S|MKNK1_uc009vyi.2_Silent_p.S196S|MKNK1_uc010ome.1_Silent_p.S101S|MKNK1_uc009vyj.2_Silent_p.S141S	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	MAP kinase-interacting serine/threonine kinase 1	237	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2	Acute lymphoblastic leukemia(166;0.155)					GTTTCATCCCACTGCCCAAGT	0.488000												
CYP4B1	1580	broad.mit.edu	37	1	47284440	47284440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:47284440G>A	uc001cqm.3	+	12	1574	c.1490G>A	c.(1489-1491)GGC>GAC	p.G497D	CYP4B1_uc001cqn.3_Missense_Mutation_p.G498D|CYP4B1_uc009vym.2_Missense_Mutation_p.G483D|CYP4B1_uc010omk.1_Missense_Mutation_p.G334D	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	497					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					TCCAAGAATGGCTTTCACCTC	0.597000												
SLC5A9	200010	broad.mit.edu	37	1	48708212	48708212	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:48708212C>T	uc001cro.2	+	13	1813	c.1761C>T	c.(1759-1761)TCC>TCT	p.S587S	SLC5A9_uc001crn.2_Silent_p.S612S|SLC5A9_uc010omt.1_Silent_p.S601S|SLC5A9_uc001crp.2_Silent_p.S254S|SLC5A9_uc010omu.1_Silent_p.S254S|SLC5A9_uc009vyt.1_RNA	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	587	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3						CGGAGATATCCGAGAGGCCAG	0.657000												
ELAVL4	1996	broad.mit.edu	37	1	50661335	50661335	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:50661335C>T	uc001csb.2	+	5	879	c.611C>T	c.(610-612)CCG>CTG	p.P204L	ELAVL4_uc001cry.3_Missense_Mutation_p.P207L|ELAVL4_uc001crz.3_Missense_Mutation_p.P204L|ELAVL4_uc001csa.3_Missense_Mutation_p.P221L|ELAVL4_uc001csc.3_Missense_Mutation_p.P204L|ELAVL4_uc009vyu.2_Missense_Mutation_p.P209L|ELAVL4_uc010omz.1_Missense_Mutation_p.P209L	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	204	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GCTACGGAACCGATTACTGTG	0.577000												
ZCCHC11	23318	broad.mit.edu	37	1	52956410	52956410	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:52956410C>T	uc001ctx.2	-	8	1616	c.1382G>A	c.(1381-1383)CGA>CAA	p.R461Q	ZCCHC11_uc001cty.2_Missense_Mutation_p.R461Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.R461Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.R461Q|ZCCHC11_uc009vzf.1_Missense_Mutation_p.R220Q|ZCCHC11_uc001cub.2_Missense_Mutation_p.R461Q|ZCCHC11_uc001cuc.2_RNA	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	461					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						CAACCTTTTTCGATCTCTGCA	0.294000												
ZYG11B	79699	broad.mit.edu	37	1	53279364	53279364	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:53279364A>G	uc001cuj.2	+	11	2047	c.1852A>G	c.(1852-1854)ACA>GCA	p.T618A	ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.T539A|ZYG11B_uc009vzh.2_Missense_Mutation_p.T40A	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	zyg-11 homolog B	618							protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						ACAAGCTTGGACATTGAGTCG	0.423000												
SCP2	6342	broad.mit.edu	37	1	53446143	53446143	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:53446143G>A	uc001cur.1	+	10	1022	c.901G>A	c.(901-903)GTA>ATA	p.V301I	SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.V220I|SCP2_uc010onp.1_Missense_Mutation_p.V277I|SCP2_uc009vzi.1_Missense_Mutation_p.V257I|SCP2_uc001cuq.1_Missense_Mutation_p.V257I	NM_002979	NP_002970	P22307	NLTP_HUMAN	sterol carrier protein 2 isoform 1 proprotein	301					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)	1						TGATATTGACGTAATAGAACT	0.368000												
SSBP3	23648	broad.mit.edu	37	1	54870568	54870568	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:54870568A>G	uc001cxe.2	-	2	390	c.92T>C	c.(91-93)GTA>GCA	p.V31A	SSBP3_uc001cxf.2_Missense_Mutation_p.V31A|SSBP3_uc001cxg.2_Missense_Mutation_p.V31A	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	31	LisH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0						CTGTGCTCCTACGTGCAGTAA	0.537000												
C1orf177	163747	broad.mit.edu	37	1	55273679	55273679	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:55273679A>G	uc001cyb.3	+	4	529	c.475A>G	c.(475-477)ACT>GCT	p.T159A	C1orf177_uc001cya.3_Missense_Mutation_p.T159A	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	159											0						CCGAGGACTCACTGGGGTAGG	0.413000												
NFIA	4774	broad.mit.edu	37	1	61848996	61848996	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:61848996C>T	uc001czw.2	+	7	1518	c.1034C>T	c.(1033-1035)GCG>GTG	p.A345V	NFIA_uc001czy.2_Missense_Mutation_p.A337V|NFIA_uc010oos.1_Missense_Mutation_p.A390V|NFIA_uc001czv.2_Missense_Mutation_p.A345V	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	345					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2						CTGGGAACGGCGTTCACACAG	0.552000												
ROR1	4919	broad.mit.edu	37	1	64608132	64608132	+	Missense_Mutation	SNP	G	G	A	rs150545478		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:64608132G>A	uc001dbj.2	+	7	1372	c.973G>A	c.(973-975)GTC>ATC	p.V325I	ROR1_uc001dbi.3_Missense_Mutation_p.V325I|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	325	Kringle.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CCGGGGGACCGTCAGTGTGAC	0.502000												
LEPR	3953	broad.mit.edu	37	1	66081741	66081741	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:66081741C>T	uc001dci.2	+	15	2248	c.2046C>T	c.(2044-2046)AAC>AAT	p.N682N	LEPR_uc001dcg.2_Silent_p.N682N|LEPR_uc001dch.2_Silent_p.N682N|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.N682N|LEPR_uc001dck.2_Silent_p.N682N	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	682	Extracellular (Potential).|Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGTGATAAACCATCATACTT	0.398000												
FPGT	8790	broad.mit.edu	37	1	74670120	74670120	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:74670120T>A	uc001dgb.1	+	4	426	c.389T>A	c.(388-390)ATT>AAT	p.I130N	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Missense_Mutation_p.I130N|FPGT_uc010oqv.1_Missense_Mutation_p.I130N	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	130					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						CTGGGAAAAATTTTCACTGCT	0.323000												
SYDE2	84144	broad.mit.edu	37	1	85666014	85666014	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:85666014G>T	uc009wcm.2	-	1	715	c.666C>A	c.(664-666)GCC>GCA	p.A222A	SYDE2_uc001dku.3_Silent_p.A222A	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	222					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)		CATTTGGGGAGGCTGCCTGCG	0.552000												
CLCA2	9635	broad.mit.edu	37	1	86900375	86900375	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:86900375G>T	uc001dlr.3	+	6	1081	c.919G>T	c.(919-921)GCT>TCT	p.A307S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	307	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GCTTGTACAGGCTGGTGACAA	0.438000												
CLCA4	22802	broad.mit.edu	37	1	87012848	87012848	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:87012848C>T	uc009wcs.2	+	1	90	c.46C>T	c.(46-48)CTG>TTG	p.L16L	CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	16						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			ovary(2)	2		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TCTGTGCCTGCTGCACCAGTC	0.368000												
GTF2B	2959	broad.mit.edu	37	1	89325936	89325936	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:89325936T>C	uc001dmo.3	-	4	411	c.292A>G	c.(292-294)AAT>GAT	p.N98D	GTF2B_uc009wcw.1_RNA	NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	98					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TACTTAGAATTGCCAAATTCG	0.363000												
GBP4	115361	broad.mit.edu	37	1	89656966	89656966	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:89656966C>A	uc001dnb.2	-	6	1010	c.894G>T	c.(892-894)GAG>GAT	p.E298D		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	298				E -> K (in Ref. 5; AAH70055).		cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAATGATTCCCTCTCTCAGGG	0.428000												
GBP4	115361	broad.mit.edu	37	1	89661070	89661070	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:89661070C>A	uc001dnb.2	-	3	389	c.273G>T	c.(271-273)AAG>AAT	p.K91N		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	91						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCCAGATGCCCTTAGTTTCAG	0.537000												
LRRC8B	23507	broad.mit.edu	37	1	90049465	90049465	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:90049465A>G	uc001dni.2	+	7	1763	c.1256A>G	c.(1255-1257)CAG>CGG	p.Q419R	LRRC8B_uc001dnh.2_Missense_Mutation_p.Q419R|LRRC8B_uc001dnj.2_Missense_Mutation_p.Q419R	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	419						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AAAAATGCCCAGGACAAGATA	0.398000												
HFM1	164045	broad.mit.edu	37	1	91788662	91788662	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:91788662C>T	uc001doa.3	-	22	2622	c.2522G>A	c.(2521-2523)CGG>CAG	p.R841Q	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.R520Q|HFM1_uc001dob.3_Missense_Mutation_p.R73Q|HFM1_uc010osv.1_Missense_Mutation_p.R525Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	841	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GATAGTTATCCGATTTGGATC	0.254000												
CNN3	1266	broad.mit.edu	37	1	95363495	95363495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:95363495G>A	uc010otw.1	-	8	875	c.793C>T	c.(793-795)CGG>TGG	p.R265W	CNN3_uc010otv.1_Missense_Mutation_p.R224W|CNN3_uc001dqz.3_Missense_Mutation_p.R265W|CNN3_uc010otx.1_Missense_Mutation_p.R219W	NM_001839	NP_001830	Q15417	CNN3_HUMAN	calponin 3	265	Calponin-like 3.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding				0		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATACTTGCCGCCCAAGCCCA	0.468000												
SARS	6301	broad.mit.edu	37	1	109778615	109778615	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:109778615A>G	uc001dwu.1	+	8	1061	c.986A>G	c.(985-987)TAC>TGC	p.Y329C	SARS_uc001dwt.1_Missense_Mutation_p.Y329C|SARS_uc001dwv.1_Missense_Mutation_p.Y329C|SARS_uc001dww.1_Missense_Mutation_p.Y262C|SARS_uc001dwx.1_Missense_Mutation_p.Y281C|SARS_uc009wfa.1_Missense_Mutation_p.Y329C|SARS_uc001dwy.1_Missense_Mutation_p.Y154C|SARS_uc001dwz.1_Missense_Mutation_p.Y154C	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	329					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CAGTTTGTGTACTCATCACCC	0.488000												
CELSR2	1952	broad.mit.edu	37	1	109795382	109795382	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:109795382T>C	uc001dxa.3	+	1	2742	c.2681T>C	c.(2680-2682)GTG>GCG	p.V894A		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	894	Extracellular (Potential).|Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCATATGCAGTGGACAAGGGG	0.542000												
AMIGO1	57463	broad.mit.edu	37	1	110051154	110051154	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:110051154C>T	uc001dxx.3	-	2	763	c.381G>A	c.(379-381)GAG>GAA	p.E127E		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	127	LRR 3.|Extracellular (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAACAGGAACTCATCCAGTG	0.577000												
KCNC4	3749	broad.mit.edu	37	1	110765982	110765982	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:110765982A>G	uc001dzh.2	+	2	1132	c.1075A>G	c.(1075-1077)AAG>GAG	p.K359E	KCNC4_uc001dzf.2_Missense_Mutation_p.K359E|KCNC4_uc009wfr.2_Missense_Mutation_p.K359E|KCNC4_uc001dzg.2_Missense_Mutation_p.K359E|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	359	Helical; Voltage-sensor; Name=Segment S4; (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGTATCTTCAAGCTCACACG	0.647000												
KCNA3	3738	broad.mit.edu	37	1	111216001	111216001	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:111216001G>A	uc001dzv.1	-	1	1655	c.1431C>T	c.(1429-1431)CCC>CCT	p.P477P		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	477	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAATCACGGGAACTGGCA	0.537000												
PTPN22	26191	broad.mit.edu	37	1	114401660	114401660	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:114401660A>G	uc001eds.2	-	3	367	c.237T>C	c.(235-237)GAT>GAC	p.D79D	uc001edv.1_Intron|PTPN22_uc009wgq.2_Silent_p.D79D|PTPN22_uc010owo.1_5'UTR|PTPN22_uc001edt.2_Silent_p.D79D|PTPN22_uc009wgr.2_Silent_p.D79D|PTPN22_uc009wgs.2_Silent_p.D79D|PTPN22_uc001edu.2_Silent_p.D79D	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	79	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAATCCTCATCAGAGGTTA	0.368000												
ATP1A1	476	broad.mit.edu	37	1	116935565	116935565	+	Silent	SNP	C	C	T	rs140751331	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:116935565C>T	uc001ege.2	+	11	1761	c.1422C>T	c.(1420-1422)TAC>TAT	p.Y474Y	ATP1A1_uc010owv.1_Silent_p.Y443Y|ATP1A1_uc010oww.1_Silent_p.Y474Y|ATP1A1_uc010owx.1_Silent_p.Y443Y|C1orf203_uc009whb.2_RNA	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	474	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GAGAAAGATACGCCAAAATCG	0.532000												
ATP1A1	476	broad.mit.edu	37	1	116941581	116941581	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:116941581T>C	uc001ege.2	+	17	2662	c.2323T>C	c.(2323-2325)TCC>CCC	p.S775P	ATP1A1_uc010owv.1_Missense_Mutation_p.S744P|ATP1A1_uc010oww.1_Missense_Mutation_p.S775P|ATP1A1_uc010owx.1_Missense_Mutation_p.S744P|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	775	Helical; (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTTGAAGAAATCCATTGCTTA	0.393000												
IGSF3	3321	broad.mit.edu	37	1	117127587	117127587	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:117127587C>T	uc001egr.1	-	9	3233	c.2528G>A	c.(2527-2529)CGC>CAC	p.R843H	IGSF3_uc001egq.1_Missense_Mutation_p.R863H|IGSF3_uc001egs.1_Missense_Mutation_p.R516H	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	843	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TATGCTGGTGCGGTTGAGAAC	0.607000												
CD101	9398	broad.mit.edu	37	1	117554394	117554394	+	Missense_Mutation	SNP	G	G	A	rs34397029		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:117554394G>A	uc010oxb.1	+	3	705	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	CD101_uc009whd.2_Missense_Mutation_p.R216Q|CD101_uc010oxc.1_Missense_Mutation_p.R216Q|CD101_uc010oxd.1_Missense_Mutation_p.R154Q	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	216	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TATACAGAGCGGTTTGCAGCC	0.502000												
HFE2	148738	broad.mit.edu	37	1	145416863	145416863	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:145416863T>C	uc001eni.2	+	4	1533	c.1208T>C	c.(1207-1209)GTT>GCT	p.V403A	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.V177A|HFE2_uc001enk.2_Missense_Mutation_p.V290A|HFE2_uc001enl.2_Missense_Mutation_p.V177A	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	403					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATGCTGGGGTTCCTCTTTCC	0.532000												
PIAS3	10401	broad.mit.edu	37	1	145579269	145579269	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:145579269C>A	uc001eoc.1	+	5	697	c.606C>A	c.(604-606)CCC>CCA	p.P202P	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Silent_p.P193P|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	202	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAGCTGCCCCCAGGAAGATT	0.478000												
GJA5	2702	broad.mit.edu	37	1	147231067	147231067	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:147231067C>A	uc001eps.1	-	2	421	c.280G>T	c.(280-282)GGC>TGC	p.G94C	GJA5_uc001ept.1_Missense_Mutation_p.G94C	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	94	Helical; (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ATGGCGTGGCCCATGTACACC	0.607000												
OTUD7B	56957	broad.mit.edu	37	1	149943026	149943026	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:149943026C>T	uc001etn.2	-	3	595	c.239G>A	c.(238-240)CGA>CAA	p.R80Q	OTUD7B_uc001eto.2_Missense_Mutation_p.D46N	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	80					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GAGGATGGGTCGGGGAGGGCG	0.547000												
PRPF3	9129	broad.mit.edu	37	1	150300845	150300845	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150300845C>T	uc001eum.3	+	4	505	c.343C>T	c.(343-345)CGT>TGT	p.R115C	PRPF3_uc009wlo.2_Missense_Mutation_p.R115C|PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.R74C|PRPF3_uc010pcb.1_Intron	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	115					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACGAATACCCCGTTTTGAGGA	0.493000												
TARS2	80222	broad.mit.edu	37	1	150476902	150476902	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150476902A>G	uc001euq.2	+	14	1716	c.1709A>G	c.(1708-1710)CAG>CGG	p.Q570R	TARS2_uc001eur.2_Missense_Mutation_p.Q488R|TARS2_uc009wlt.2_Missense_Mutation_p.Q196R|TARS2_uc009wls.2_Missense_Mutation_p.Q440R	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	570					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTTGACCTCCAGTATAAGGGG	0.507000												
MCL1	4170	broad.mit.edu	37	1	150549866	150549866	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150549866T>C	uc001euz.2	-	3	1168	c.1038A>G	c.(1036-1038)GCA>GCG	p.A346A	MCL1_uc010pch.1_Silent_p.A236A|MCL1_uc001eva.2_Missense_Mutation_p.I264V	NM_021960	NP_068779	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 isoform 1	346	Helical; (Potential).				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity				0	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTATTAGATATGCCAAACCAG	0.458000												
SEMA6C	10500	broad.mit.edu	37	1	151105901	151105901	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151105901C>T	uc001ewu.2	-	19	2152	c.1852G>A	c.(1852-1854)GCC>ACC	p.A618T	SEMA6C_uc001ewv.2_Missense_Mutation_p.A650T|SEMA6C_uc001eww.2_Missense_Mutation_p.A610T|SEMA6C_uc010pcq.1_Intron	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	618	Helical; (Potential).					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGACTGAGGCGCCCAGGGCA	0.726000												
SEMA6C	10500	broad.mit.edu	37	1	151108103	151108103	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151108103A>G	uc001ewu.2	-	14	1697	c.1397T>C	c.(1396-1398)ATC>ACC	p.I466T	SEMA6C_uc001ewv.2_Missense_Mutation_p.I466T|SEMA6C_uc001eww.2_Missense_Mutation_p.I426T|SEMA6C_uc010pcq.1_Missense_Mutation_p.I466T	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	466	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCCAGGAGGATGGGCTCAGG	0.617000												
RFX5	5993	broad.mit.edu	37	1	151314786	151314786	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151314786T>C	uc001exv.1	-	11	1941	c.1727A>G	c.(1726-1728)GAG>GGG	p.E576G	RFX5_uc001exw.1_Missense_Mutation_p.E576G|RFX5_uc009wmr.1_Missense_Mutation_p.E576G|RFX5_uc010pcx.1_Missense_Mutation_p.E536G	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	576						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGAAAAGCCTCCTTTTGGCT	0.483000												
SELENBP1	8991	broad.mit.edu	37	1	151341935	151341935	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151341935A>G	uc001exx.2	-	3	204	c.157T>C	c.(157-159)TCT>CCT	p.S53P	SELENBP1_uc010pcy.1_Missense_Mutation_p.S95P|SELENBP1_uc001exy.2_5'UTR|SELENBP1_uc001exz.2_5'UTR|SELENBP1_uc010pcz.1_Missense_Mutation_p.S53P|SELENBP1_uc009wms.2_5'UTR|SELENBP1_uc009wmt.2_5'UTR|SELENBP1_uc001eya.2_5'UTR|SELENBP1_uc009wmu.2_5'UTR	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	53					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TACTGGGGAGACTTGGGGTCA	0.602000												
PBXIP1	57326	broad.mit.edu	37	1	154926189	154926189	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:154926189G>T	uc001ffr.2	-	2	68	c.9C>A	c.(7-9)TCC>TCA	p.S3S	PBXIP1_uc001ffs.2_Intron|PBXIP1_uc010pep.1_Intron|PBXIP1_uc009woy.1_RNA	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	3					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTCTGGGCAGGAGGCCATAG	0.602000												
ADAM15	8751	broad.mit.edu	37	1	155029473	155029473	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155029473T>C	uc001fgr.1	+	11	1145	c.1044T>C	c.(1042-1044)CAT>CAC	p.H348H	ADAM15_uc001fgq.1_Silent_p.H33H|ADAM15_uc010pet.1_Silent_p.H332H|ADAM15_uc010peu.1_Silent_p.H365H|ADAM15_uc001fgt.1_Silent_p.H348H|ADAM15_uc010pev.1_Silent_p.H358H|ADAM15_uc001fgs.1_Silent_p.H348H|ADAM15_uc001fgu.1_Silent_p.H348H|ADAM15_uc001fgw.1_Silent_p.H348H|ADAM15_uc001fgv.1_Silent_p.H348H|ADAM15_uc001fgx.1_Silent_p.H348H|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	348	Peptidase M12B.|Extracellular (Potential).	Zinc; catalytic (By similarity).			angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCATAGCCCATGAGTTGGGCC	0.622000												
RUSC1	23623	broad.mit.edu	37	1	155300268	155300268	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155300268G>A	uc001fkj.2	+	10	2844	c.2615G>A	c.(2614-2616)CGT>CAT	p.R872H	RAG1AP1_uc010pey.1_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.R766H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_Missense_Mutation_p.R403H|RUSC1_uc001fkl.2_Missense_Mutation_p.R462H|RUSC1_uc001fkp.2_Missense_Mutation_p.R403H|RUSC1_uc001fkq.2_Missense_Mutation_p.R297H|RUSC1_uc010pgb.1_Missense_Mutation_p.R370H|RUSC1_uc009wqp.1_Missense_Mutation_p.R397H|RUSC1_uc001fkn.2_Missense_Mutation_p.R181H|RUSC1_uc001fko.2_RNA|RUSC1_uc001fkr.2_Missense_Mutation_p.R403H|RUSC1_uc001fks.2_Missense_Mutation_p.R139H	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1 isoform a	872	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			ovary(2)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAAGTGCTGCGTGTCATCACC	0.612000												
ASH1L	55870	broad.mit.edu	37	1	155451418	155451418	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155451418C>A	uc009wqq.2	-	3	1723	c.1243G>T	c.(1243-1245)GGT>TGT	p.G415C	ASH1L_uc001fkt.2_Missense_Mutation_p.G415C|ASH1L_uc009wqr.1_Missense_Mutation_p.G415C	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	415					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGATCAGACCTGCCAAAGGA	0.433000												
YY1AP1	55249	broad.mit.edu	37	1	155630091	155630091	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155630091C>T	uc001fln.2	-	11	1772	c.1748G>A	c.(1747-1749)AGG>AAG	p.R583K	YY1AP1_uc001flg.2_Missense_Mutation_p.R322K|YY1AP1_uc010pgg.1_Missense_Mutation_p.R422K|YY1AP1_uc010pgh.1_Missense_Mutation_p.R526K|YY1AP1_uc010pgi.1_Missense_Mutation_p.R675K|YY1AP1_uc001flh.2_Missense_Mutation_p.R655K|YY1AP1_uc009wqt.2_Missense_Mutation_p.R506K|YY1AP1_uc001flk.2_Missense_Mutation_p.R526K|YY1AP1_uc001fll.2_Missense_Mutation_p.R537K|YY1AP1_uc009wqv.2_Missense_Mutation_p.R254K|YY1AP1_uc001flm.2_Missense_Mutation_p.R526K|YY1AP1_uc001fli.2_Missense_Mutation_p.R537K|YY1AP1_uc009wqu.2_Missense_Mutation_p.R370K|YY1AP1_uc001flj.2_Missense_Mutation_p.R517K|YY1AP1_uc009wqw.2_Missense_Mutation_p.R506K|YY1AP1_uc001flo.2_Missense_Mutation_p.R471K|YY1AP1_uc001flp.2_Missense_Mutation_p.R537K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	583					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GCGAAAGGCCCTGGCTCCCCT	0.537000												
ROBLD3	28956	broad.mit.edu	37	1	156024741	156024741	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:156024741A>C	uc001fnb.3	+	1	225	c.61A>C	c.(61-63)AGC>CGC	p.S21R	UBQLN4_uc001fna.2_5'Flank|UBQLN4_uc010pgx.1_5'Flank|ROBLD3_uc010pgy.1_Missense_Mutation_p.S21R	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN	roadblock domain-containing protein 3 isoform 1	21					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex					0						AGGCGTCCAGAGCACCCTGTG	0.662000												
NES	10763	broad.mit.edu	37	1	156639860	156639860	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:156639860T>C	uc001fpq.2	-	4	4253	c.4120A>G	c.(4120-4122)ACT>GCT	p.T1374A		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1374	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTGCCTCAGTCCCCAGGTCC	0.522000												
CD5L	922	broad.mit.edu	37	1	157805716	157805716	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:157805716A>C	uc001frk.3	-	3	428	c.285T>G	c.(283-285)AGT>AGG	p.S95R		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	95	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCTGTGCAACTGACTGATT	0.493000												
OR6K2	81448	broad.mit.edu	37	1	158670020	158670020	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:158670020G>T	uc001fsu.1	-	1	423	c.423C>A	c.(421-423)ACC>ACA	p.T141T		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					AAGTCAGTTGGGTACATAGCT	0.473000												
CADM3	57863	broad.mit.edu	37	1	159170641	159170641	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:159170641G>A	uc001ftl.2	+	9	1268	c.1126G>A	c.(1126-1128)GCG>ACG	p.A376T	CADM3_uc001ftk.2_Missense_Mutation_p.A410T|uc001ftm.1_RNA	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	376	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)					TGCTCCAGACGCGGACACGGC	0.577000												
KCNJ10	3766	broad.mit.edu	37	1	160011281	160011281	+	Missense_Mutation	SNP	G	G	A	rs137853074		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:160011281G>A	uc001fuw.1	-	2	1192	c.1042C>T	c.(1042-1044)CGC>TGC	p.R348C		NM_002241	NP_002232	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily	348	Cytoplasmic (By similarity).					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			ovary(1)	1	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCCGTAGCGTACAGTGCTG	0.507000												
ITLN2	142683	broad.mit.edu	37	1	160915016	160915016	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:160915016A>G	uc001fxd.2	-	8	950	c.892T>C	c.(892-894)TTT>CTT	p.F298L	ITLN2_uc009wts.2_Missense_Mutation_p.F297L|ITLN2_uc010pju.1_Missense_Mutation_p.F215L	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	298					signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCCAGTCAAAGGCGGAGAAG	0.532000												
ADAMTS4	9507	broad.mit.edu	37	1	161163162	161163162	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:161163162C>A	uc001fyt.3	-	7	2180	c.1752G>T	c.(1750-1752)GAG>GAT	p.E584D		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	584	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACACTGCTCCTCGCGGAAGG	0.622000												
DDR2	4921	broad.mit.edu	37	1	162724999	162724999	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:162724999G>A	uc001gcf.2	+	7	936	c.471G>A	c.(469-471)CCG>CCA	p.P157P	DDR2_uc001gcg.2_Silent_p.P157P	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	157	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTTGGAGCCGCCCATTGTAG	0.478000												
RGS4	5999	broad.mit.edu	37	1	163042651	163042651	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:163042651A>G	uc009wuy.2	+	3	717	c.206A>G	c.(205-207)CAT>CGT	p.H69R	RGS4_uc001gcl.3_Missense_Mutation_p.H166R|RGS4_uc009wuz.2_Missense_Mutation_p.H69R|RGS4_uc009wva.2_Missense_Mutation_p.H51R	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	69	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						CTGATTAGTCATGAATGTAAG	0.408000												
ADCY10	55811	broad.mit.edu	37	1	167823708	167823708	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:167823708A>C	uc001ger.2	-	18	2489	c.2191T>G	c.(2191-2193)TGT>GGT	p.C731G	ADCY10_uc009wvk.2_Missense_Mutation_p.C639G|ADCY10_uc010plj.1_Missense_Mutation_p.C578G|ADCY10_uc009wvl.2_Missense_Mutation_p.C730G	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	731					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						GGAATCCCACAGCTTCCCTCC	0.393000												
ADCY10	55811	broad.mit.edu	37	1	167849742	167849742	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:167849742C>A	uc001ger.2	-	10	1424	c.1126G>T	c.(1126-1128)GTC>TTC	p.V376F	ADCY10_uc009wvk.2_Missense_Mutation_p.V284F|ADCY10_uc010plj.1_Missense_Mutation_p.V223F|ADCY10_uc009wvl.2_Missense_Mutation_p.V375F|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	376	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						ATTTTGTGGACTTGAGAGCAG	0.502000												
TBX19	9095	broad.mit.edu	37	1	168274409	168274409	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:168274409C>T	uc001gfl.2	+	6	942	c.891C>T	c.(889-891)TAC>TAT	p.Y297Y	TBX19_uc001gfj.3_Intron|TBX19_uc001gfm.2_5'UTR	NM_005149	NP_005140	O60806	TBX19_HUMAN	T-box 19	297					anatomical structure morphogenesis	nucleus	DNA binding				0	all_hematologic(923;0.215)					CTTCTGCGTACATGCACAGAA	0.582000												
XCL2	6846	broad.mit.edu	37	1	168511329	168511329	+	Silent	SNP	G	G	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:168511329G>C	uc001gfn.3	-	2	111	c.78C>G	c.(76-78)GTC>GTG	p.V26V		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2 precursor	26					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			ovary(1)	1	all_hematologic(923;0.215)					TCCTATGTGAGACTTCACTCC	0.438000												
BAT2L2	23215	broad.mit.edu	37	1	171510625	171510625	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:171510625G>A	uc010pmg.1	+	16	4280	c.4014G>A	c.(4012-4014)GAG>GAA	p.E1338E	BAT2L2_uc010pmh.1_Silent_p.E315E	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1338							protein C-terminus binding				0						CTAAAGGAGAGCCTACAAGGA	0.488000												
TNN	63923	broad.mit.edu	37	1	175092640	175092640	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:175092640T>C	uc001gkl.1	+	12	2868	c.2755T>C	c.(2755-2757)TAC>CAC	p.Y919H		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	919	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CATGGTGCGCTACACCTCTGC	0.592000												
FAM5B	57795	broad.mit.edu	37	1	177245416	177245416	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:177245416T>C	uc001glf.2	+	6	1170	c.858T>C	c.(856-858)GGT>GGC	p.G286G	FAM5B_uc010pna.1_Silent_p.G36G|FAM5B_uc001glg.2_Silent_p.G181G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	286						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GCTCTGAGGGTGAGCTCGTCT	0.577000												
STX6	10228	broad.mit.edu	37	1	180953905	180953905	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:180953905A>G	uc010pnq.1	-	7	836	c.599T>C	c.(598-600)ATG>ACG	p.M200T	STX6_uc001goo.2_Missense_Mutation_p.M200T|STX6_uc010pnr.1_Missense_Mutation_p.M99T	NM_005819	NP_005810	O43752	STX6_HUMAN	syntaxin 6	200	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			ovary(1)	1						ATCTTCCAACATACTAGAGAG	0.458000												
CACNA1E	777	broad.mit.edu	37	1	181693655	181693655	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:181693655C>T	uc001gow.2	+	17	2289	c.2124C>T	c.(2122-2124)AAC>AAT	p.N708N	CACNA1E_uc009wxs.2_Silent_p.N615N	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	708	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						ATCTCGCCAACGCCCAGGAAC	0.468000												
CACNA1E	777	broad.mit.edu	37	1	181695292	181695292	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:181695292C>T	uc001gow.2	+	18	2399	c.2234C>T	c.(2233-2235)TCG>TTG	p.S745L	CACNA1E_uc009wxs.2_Missense_Mutation_p.S652L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	745	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						AACATGCCTTCGATCGAGTGA	0.433000												
PRG4	10216	broad.mit.edu	37	1	186276739	186276739	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:186276739G>A	uc001gru.3	+	7	1939	c.1888G>A	c.(1888-1890)GAG>AAG	p.E630K	PRG4_uc001grt.3_Missense_Mutation_p.E589K|PRG4_uc009wyl.2_Missense_Mutation_p.E537K|PRG4_uc009wym.2_Missense_Mutation_p.E496K|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	630	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CACCACCCCCGAGAAGCTCGC	0.672000												
PRG4	10216	broad.mit.edu	37	1	186276818	186276818	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:186276818C>T	uc001gru.3	+	7	2018	c.1967C>T	c.(1966-1968)CCC>CTC	p.P656L	PRG4_uc001grt.3_Missense_Mutation_p.P615L|PRG4_uc009wyl.2_Missense_Mutation_p.P563L|PRG4_uc009wym.2_Missense_Mutation_p.P522L|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	656	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCTGAGGAGCCCACACCCACC	0.677000												
TPR	7175	broad.mit.edu	37	1	186301402	186301402	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:186301402T>C	uc001grv.2	-	38	5826	c.5529A>G	c.(5527-5529)TCA>TCG	p.S1843S		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1843					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AGACTTGGTCTGATGCTTCTA	0.408000			T	NTRK1	papillary thyroid							
TROVE2	6738	broad.mit.edu	37	1	193051754	193051754	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:193051754T>C	uc001gss.2	+	8	1555	c.1380T>C	c.(1378-1380)CCT>CCC	p.P460P	TROVE2_uc001gst.1_Silent_p.P185P|TROVE2_uc001gsu.1_Silent_p.P185P|TROVE2_uc001gsv.1_Silent_p.P460P|TROVE2_uc001gsw.2_Silent_p.P460P|TROVE2_uc009wyp.2_Silent_p.P460P|TROVE2_uc009wyq.2_Silent_p.P460P|TROVE2_uc001gsx.1_Silent_p.P460P	NM_004600	NP_004591	P10155	RO60_HUMAN	TROVE domain family, member 2 isoform 2	460					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding				0						CAAACACACCTGCTGATGTCT	0.403000												
CFH	3075	broad.mit.edu	37	1	196709878	196709878	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:196709878C>T	uc001gtj.3	+	18	3152	c.2912C>T	c.(2911-2913)GCA>GTA	p.A971V		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	971	Sushi 16.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CCTGCAATTGCAAAATGCTTA	0.353000												
CRB1	23418	broad.mit.edu	37	1	197390846	197390846	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:197390846T>G	uc001gtz.2	+	6	2023	c.1888T>G	c.(1888-1890)TTC>GTC	p.F630V	CRB1_uc010poz.1_Missense_Mutation_p.F561V|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.F518V|CRB1_uc010ppb.1_Missense_Mutation_p.F630V|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.F111V|CRB1_uc001gub.1_Missense_Mutation_p.F279V	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	630	Extracellular (Potential).|Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						TCTGCTTAACTTCTATAATAT	0.418000												
ELF3	1999	broad.mit.edu	37	1	201984387	201984387	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:201984387T>C	uc001gxg.3	+	8	4244	c.1052T>C	c.(1051-1053)GTC>GCC	p.V351A	ELF3_uc001gxi.3_Missense_Mutation_p.V351A|ELF3_uc001gxh.3_Missense_Mutation_p.V351A	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	351	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0						CGGCGACTCGTCTACAAGTTT	0.557000												
MYBPH	4608	broad.mit.edu	37	1	203140677	203140677	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:203140677G>T	uc001gzh.1	-	5	686	c.627C>A	c.(625-627)ACC>ACA	p.T209T	FMOD_uc010pqi.1_Intron	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	myosin binding protein H	209	Ig-like C2-type 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle				0			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGCCGTTGTGGGTCCATGTGG	0.662000												
SNRPE	6635	broad.mit.edu	37	1	203830839	203830839	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:203830839A>G	uc001hai.2	+	1	100	c.52A>G	c.(52-54)ATC>GTC	p.I18V	SNRPE_uc010pqn.1_RNA	NM_003094	NP_003085	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	18					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding				0	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTGCAGCCCATCGTATCCTA	0.582000												
SOX13	9580	broad.mit.edu	37	1	204092326	204092326	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204092326C>T	uc001ham.2	+	11	1816	c.1221C>T	c.(1219-1221)TGC>TGT	p.C407C	SOX13_uc010pqp.1_Silent_p.C406C|SOX13_uc010pqq.1_Silent_p.C274C	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	SRY-box 13	407					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCTGAGCTGCGACATGGATG	0.632000												
TMCC2	9911	broad.mit.edu	37	1	205241235	205241235	+	Missense_Mutation	SNP	G	G	A	rs140763897		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:205241235G>A	uc001hbz.1	+	6	2557	c.2113G>A	c.(2113-2115)GTG>ATG	p.V705M	TMCC2_uc010prf.1_Missense_Mutation_p.V627M|TMCC2_uc001hca.2_Missense_Mutation_p.V480M|TMCC2_uc001hcb.1_Missense_Mutation_p.V465M|TMCC2_uc001hcc.1_Missense_Mutation_p.V326M|TMCC2_uc001hcd.2_3'UTR	NM_014858	NP_055673	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	705						integral to membrane	protein binding			pancreas(1)	1	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTGGAGCACGTGTTGCTGCC	0.622000												
MFSD4	148808	broad.mit.edu	37	1	205554005	205554005	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:205554005G>A	uc001hcv.3	+	5	947	c.861G>A	c.(859-861)GGG>GGA	p.G287G	MFSD4_uc010prk.1_Silent_p.G200G|MFSD4_uc010prl.1_RNA|MFSD4_uc010prm.1_Silent_p.G232G	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing	287					transmembrane transport	integral to membrane				skin(2)|central_nervous_system(1)	3	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTCCTGCAGGGCATGAGGACC	0.592000											OREG0014158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C1orf74	148304	broad.mit.edu	37	1	209956976	209956976	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:209956976A>G	uc001hhp.1	-	2	247	c.4T>C	c.(4-6)TTG>CTG	p.L2L		NM_152485	NP_689698	Q96LT6	CA074_HUMAN	hypothetical protein LOC148304	2										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TCTAGAAGCAACATCAAGAAT	0.567000												
KCNH1	3756	broad.mit.edu	37	1	210971048	210971048	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:210971048G>A	uc001hib.2	-	9	1887	c.1717C>T	c.(1717-1719)CGC>TGC	p.R573C	KCNH1_uc001hic.2_Missense_Mutation_p.R546C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	573	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACACCTTGCGGTTCAGGTGC	0.617000												
USH2A	7399	broad.mit.edu	37	1	216251649	216251649	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:216251649G>C	uc001hku.1	-	27	5741	c.5354C>G	c.(5353-5355)ACA>AGA	p.T1785R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1785	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCCACTTGTGTAAAGGCAAG	0.353000										HNSCC(13;0.011)		
MIA3	375056	broad.mit.edu	37	1	222803243	222803243	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:222803243C>G	uc001hnl.2	+	4	2690	c.2681C>G	c.(2680-2682)TCT>TGT	p.S894C	MIA3_uc009xea.1_Missense_Mutation_p.S730C	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	894	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGGGTCTGCTGCTGCA	0.517000												
TLR5	7100	broad.mit.edu	37	1	223284008	223284008	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:223284008A>G	uc001hnv.1	-	4	2812	c.2366T>C	c.(2365-2367)ATG>ACG	p.M789T	TLR5_uc001hnw.1_Missense_Mutation_p.M789T	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	789	Cytoplasmic (Potential).|TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AACCACCACCATGATGAGAGC	0.488000												
WDR26	80232	broad.mit.edu	37	1	224581610	224581610	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:224581610G>A	uc001hop.3	-	13	1805	c.1439C>T	c.(1438-1440)TCC>TTC	p.S480F	WDR26_uc001hoq.3_Missense_Mutation_p.S464F|WDR26_uc010pvh.1_Missense_Mutation_p.S187F	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	WD repeat domain 26 isoform a	627	WD 6.					cytoplasm|nucleus					0				GBM - Glioblastoma multiforme(131;0.0104)		GGCCATCATGGATGGAATCTG	0.463000												
LBR	3930	broad.mit.edu	37	1	225592396	225592396	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:225592396A>G	uc001hoy.2	-	12	1639	c.1496T>C	c.(1495-1497)GTA>GCA	p.V499A	LBR_uc001hoz.2_Missense_Mutation_p.V499A	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	499	Helical; (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TCGGAAGATTACATAACCACA	0.284000												
ITPKB	3707	broad.mit.edu	37	1	226923439	226923439	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:226923439A>G	uc010pvo.1	-	2	2061	c.1721T>C	c.(1720-1722)ATG>ACG	p.M574T	ITPKB_uc001hqh.2_Missense_Mutation_p.M574T	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	574							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				CTGGGTGCCCATGTCTGTAAT	0.632000												
OBSCN	84033	broad.mit.edu	37	1	228401959	228401959	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:228401959T>C	uc009xez.1	+	4	1387	c.1343T>C	c.(1342-1344)GTG>GCG	p.V448A	OBSCN_uc001hsn.2_Missense_Mutation_p.V448A|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	448	Ig-like 5.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCGGTCCCGGTGGGCCCCGTC	0.697000												
OBSCN	84033	broad.mit.edu	37	1	228437777	228437777	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:228437777C>T	uc009xez.1	+	14	4189	c.4145C>T	c.(4144-4146)ACG>ATG	p.T1382M	OBSCN_uc001hsn.2_Missense_Mutation_p.T1382M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1382	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				ACAGAGGTGACGTGGTACAAG	0.642000												
SIPA1L2	57568	broad.mit.edu	37	1	232649831	232649831	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:232649831C>T	uc001hvg.2	-	1	1413	c.1255G>A	c.(1255-1257)GAA>AAA	p.E419K		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	419					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGTCGCCTTCCCCTCCAGTC	0.512000												
KIAA1804	84451	broad.mit.edu	37	1	233514953	233514953	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:233514953C>T	uc001hvt.3	+	9	2462	c.2201C>T	c.(2200-2202)GCT>GTT	p.A734V	KIAA1804_uc001hvu.3_Missense_Mutation_p.A180V	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	mixed lineage kinase 4	734					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			lung(5)|central_nervous_system(2)|skin(1)	8		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCATCGGTGGCTCTGGGACTG	0.527000												
LYST	1130	broad.mit.edu	37	1	235971943	235971943	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:235971943A>G	uc001hxj.2	-	5	2350	c.2175T>C	c.(2173-2175)GTT>GTC	p.V725V	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.V725V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	725					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)			TCCACTGAACAACTATATTGC	0.323000									Chediak-Higashi_syndrome			
HEATR1	55127	broad.mit.edu	37	1	236749213	236749213	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:236749213C>T	uc001hyd.1	-	16	2081	c.1956G>A	c.(1954-1956)AAG>AAA	p.K652K	HEATR1_uc009xgh.1_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	652					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTTTTCCTGGCTTTGTGCTTT	0.348000												
FMN2	56776	broad.mit.edu	37	1	240256760	240256760	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:240256760C>A	uc010pyd.1	+	1	1576	c.1351C>A	c.(1351-1353)CTG>ATG	p.L451M	FMN2_uc010pye.1_Missense_Mutation_p.L451M	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	451					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P451Q(1)		ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAACCCTCCCTGAGCCGAGG	0.692000												
FMN2	56776	broad.mit.edu	37	1	240286560	240286560	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:240286560T>C	uc010pyd.1	+	2	1922	c.1697T>C	c.(1696-1698)ATT>ACT	p.I566T	FMN2_uc010pye.1_Missense_Mutation_p.I566T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	566					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGGATCATTGCCATGGGT	0.498000												
EXO1	9156	broad.mit.edu	37	1	242042481	242042481	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:242042481T>C	uc001hzh.2	+	13	2485	c.1945T>C	c.(1945-1947)TCT>CCT	p.S649P	EXO1_uc001hzi.2_Missense_Mutation_p.S649P|EXO1_uc001hzj.2_Missense_Mutation_p.S649P|EXO1_uc009xgq.2_Missense_Mutation_p.S648P	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	649	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAATAATATGTCTGATGTGTC	0.493000								Direct_reversal_of_damage|Editing_and_processing_nucleases				
PLD5	200150	broad.mit.edu	37	1	242253325	242253325	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:242253325C>T	uc001hzn.1	-	10	1569	c.1442G>A	c.(1441-1443)AGC>AAC	p.S481N	PLD5_uc001hzl.3_Missense_Mutation_p.S419N|PLD5_uc001hzm.3_Missense_Mutation_p.S271N|PLD5_uc001hzo.1_Missense_Mutation_p.S389N			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	481						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTTAATGATGCTTCTGTTGTT	0.443000												
NLRP3	114548	broad.mit.edu	37	1	247587785	247587785	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:247587785T>G	uc001icr.2	+	5	1178	c.1040T>G	c.(1039-1041)CTC>CGC	p.L347R	NLRP3_uc001ics.2_Missense_Mutation_p.L347R|NLRP3_uc001icu.2_Missense_Mutation_p.L347R|NLRP3_uc001icw.2_Missense_Mutation_p.L347R|NLRP3_uc001icv.2_Missense_Mutation_p.L347R|NLRP3_uc010pyw.1_Missense_Mutation_p.L345R|NLRP3_uc001ict.1_Missense_Mutation_p.L345R	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	347	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCCTCTCTGCTCATCACCACG	0.582000												
OR14C36	127066	broad.mit.edu	37	1	248512652	248512652	+	Silent	SNP	C	C	T	rs143633335	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:248512652C>T	uc010pzl.1	+	1	576	c.576C>T	c.(574-576)AGC>AGT	p.S192S		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						ACACCTTCAGCAATGAGGTCA	0.498000												
OR2T27	403239	broad.mit.edu	37	1	248813858	248813858	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:248813858C>T	uc010pzo.1	-	1	328	c.328G>A	c.(328-330)GCT>ACT	p.A110T		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGAACTCAGCCCCTGCTAAG	0.527000												
WDR37	22884	broad.mit.edu	37	10	1170951	1170951	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:1170951G>A	uc001igf.1	+	13	1513	c.1340G>A	c.(1339-1341)CGG>CAG	p.R447Q	WDR37_uc009xhm.1_Missense_Mutation_p.R448Q|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	447											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CGGCTTCCCCGGAGCAGCCGA	0.507000												
FBXO18	84893	broad.mit.edu	37	10	5952995	5952995	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:5952995G>A	uc001iis.2	+	6	1210	c.1115G>A	c.(1114-1116)AGC>AAC	p.S372N	FBXO18_uc001iir.2_Missense_Mutation_p.S298N|FBXO18_uc009xig.2_Missense_Mutation_p.S298N|FBXO18_uc001iit.2_Missense_Mutation_p.S423N	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	372					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CGGAGACCCAGCTCCACGGTG	0.572000												
FBXO18	84893	broad.mit.edu	37	10	5955763	5955763	+	Missense_Mutation	SNP	A	A	G	rs142910031	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:5955763A>G	uc001iis.2	+	7	1360	c.1265A>G	c.(1264-1266)CAG>CGG	p.Q422R	FBXO18_uc001iir.2_Missense_Mutation_p.Q348R|FBXO18_uc009xig.2_Missense_Mutation_p.Q348R|FBXO18_uc001iit.2_Missense_Mutation_p.Q473R	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	422					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						TCCTGCACTCAGGCCACAAAA	0.403000												
CELF2	10659	broad.mit.edu	37	10	11363338	11363338	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:11363338G>T	uc001iki.3	+	11	1336	c.1244G>T	c.(1243-1245)AGC>ATC	p.S415I	CELF2_uc010qbj.1_Missense_Mutation_p.S421I|CELF2_uc001ikk.2_Missense_Mutation_p.S440I|CELF2_uc001ikl.3_Missense_Mutation_p.S428I|CELF2_uc010qbl.1_Missense_Mutation_p.S391I|CELF2_uc010qbm.1_Missense_Mutation_p.S187I|CELF2_uc001iko.3_Missense_Mutation_p.S395I|CELF2_uc001ikp.3_Missense_Mutation_p.S397I|CELF2_uc010qbn.1_Missense_Mutation_p.S403I|CELF2_uc010qbo.1_Missense_Mutation_p.S310I|CELF2_uc010qbp.1_Missense_Mutation_p.S187I	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	415	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						GCTGCAGGCAGCCAGAAGGAA	0.627000												
UPF2	26019	broad.mit.edu	37	10	11990443	11990443	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:11990443T>A	uc001ila.2	-	15	3573	c.3099A>T	c.(3097-3099)GAA>GAT	p.E1033D	UPF2_uc001ilb.2_Missense_Mutation_p.E1033D|UPF2_uc001ilc.2_Missense_Mutation_p.E1033D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1033	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				cttcttcttcttcatcctctt	0.154000												
UPF2	26019	broad.mit.edu	37	10	12071235	12071235	+	Silent	SNP	A	A	G	rs35258162	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:12071235A>G	uc001ila.2	-	2	1128	c.654T>C	c.(652-654)GAT>GAC	p.D218D	UPF2_uc001ilb.2_Silent_p.D218D|UPF2_uc001ilc.2_Silent_p.D218D|UPF2_uc009xiz.1_Silent_p.D218D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	218	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				CACAGTTCACATCAGAGATTT	0.423000												
CAMK1D	57118	broad.mit.edu	37	10	12870783	12870783	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:12870783C>T	uc001ilo.2	+	11	1290	c.1055C>T	c.(1054-1056)ACG>ATG	p.T352M		NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	352	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|stomach(1)	2				GBM - Glioblastoma multiforme(1;3.16e-05)		GCACCTTCCACGCTCTGTAGT	0.582000												
SLC39A12	221074	broad.mit.edu	37	10	18242334	18242334	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:18242334G>A	uc001ipo.2	+	2	402	c.129G>A	c.(127-129)CCG>CCA	p.P43P	SLC39A12_uc001ipn.2_Silent_p.P43P|SLC39A12_uc001ipp.2_Silent_p.P43P|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	43	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CAGGCCAACCGGCAGACCTGC	0.537000												
SLC39A12	221074	broad.mit.edu	37	10	18254596	18254596	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:18254596G>A	uc001ipo.2	+	4	1001	c.728G>A	c.(727-729)CGT>CAT	p.R243H	SLC39A12_uc001ipn.2_Missense_Mutation_p.R243H|SLC39A12_uc001ipp.2_Missense_Mutation_p.R243H|SLC39A12_uc010qck.1_Missense_Mutation_p.R109H	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	243	Cytoplasmic (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TCCTTGAATCGTACGAATACC	0.423000												
KIAA1217	56243	broad.mit.edu	37	10	24813286	24813286	+	Missense_Mutation	SNP	G	G	A	rs149633076		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:24813286G>A	uc001iru.3	+	13	2894	c.2491G>A	c.(2491-2493)GCA>ACA	p.A831T	KIAA1217_uc001irs.2_Missense_Mutation_p.A751T|KIAA1217_uc001irt.3_Missense_Mutation_p.A796T|KIAA1217_uc010qcy.1_Missense_Mutation_p.A796T|KIAA1217_uc010qcz.1_Missense_Mutation_p.A796T|KIAA1217_uc001irv.1_Missense_Mutation_p.A646T|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Missense_Mutation_p.A514T|KIAA1217_uc001irz.2_Missense_Mutation_p.A514T|KIAA1217_uc001irx.2_Missense_Mutation_p.A514T|KIAA1217_uc001iry.2_Missense_Mutation_p.A514T	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	831					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						AGGCACGGACGCAGCCCAAGC	0.567000												
GAD2	2572	broad.mit.edu	37	10	26506865	26506865	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:26506865G>A	uc001isp.2	+	3	734	c.231G>A	c.(229-231)CAG>CAA	p.Q77Q	GAD2_uc009xkr.2_Silent_p.Q77Q|GAD2_uc001isq.2_Silent_p.Q77Q	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	77					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)	CCTGCGACCAGAAGCCCTGCA	0.597000												
YME1L1	10730	broad.mit.edu	37	10	27408258	27408258	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:27408258T>C	uc001iti.2	-	15	1885	c.1703A>G	c.(1702-1704)AAG>AGG	p.K568R	YME1L1_uc001itj.2_Missense_Mutation_p.K511R|YME1L1_uc010qdl.1_Missense_Mutation_p.K478R|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	568					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						CTCCAGCTCCTTCATGGTAAC	0.398000												
PTCHD3	374308	broad.mit.edu	37	10	27703031	27703031	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:27703031G>A	uc001itu.2	-	1	267	c.149C>T	c.(148-150)CCC>CTC	p.P50L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	50					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GGATTTCGGGGGTGCCAGGGG	0.677000												
KIF5B	3799	broad.mit.edu	37	10	32327717	32327717	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:32327717T>C	uc001iwe.3	-	5	901	c.431A>G	c.(430-432)GAC>GGC	p.D144G		NM_004521	NP_004512	P33176	KINH_HUMAN	kinesin family member 5B	144	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)				ATCTAACAGGTCCCTTATCTT	0.254000												
RET	5979	broad.mit.edu	37	10	43606912	43606912	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:43606912A>G	uc001jal.2	+	7	1711	c.1521A>G	c.(1519-1521)TCA>TCG	p.S507S	RET_uc001jak.1_Silent_p.S507S|RET_uc010qez.1_Silent_p.S253S	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	507	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGGAGGGGTCATGTGAGTGCC	0.632000		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma			
C10orf10	11067	broad.mit.edu	37	10	45473190	45473190	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:45473190G>A	uc001jbr.3	-	2	579	c.289C>T	c.(289-291)CCC>TCC	p.P97S	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	97						mitochondrion					0						TCAGCCATGGGCAGTGTGGGC	0.662000												
C10orf10	11067	broad.mit.edu	37	10	45473388	45473388	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:45473388G>A	uc001jbr.3	-	2	381	c.91C>T	c.(91-93)CCC>TCC	p.P31S	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	31						mitochondrion					0						GAGGGTGGGGGCTCCTGTCCA	0.637000												
ANXA8L2	244	broad.mit.edu	37	10	47756075	47756075	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:47756075G>A	uc001jem.2	+	7	727	c.535G>A	c.(535-537)GCC>ACC	p.A179T	ANXA8L2_uc010qgb.1_Missense_Mutation_p.A122T|ANXA8L2_uc001jen.2_Missense_Mutation_p.A160T|ANXA8L2_uc001jeo.1_Intron	NM_001630	NP_001621	Q5VT79	AXA82_HUMAN	annexin A8L2	179							calcium ion binding|calcium-dependent phospholipid binding			pancreas(1)	1						CCCGGCACTGGCCCTCCAAGA	0.547000												
OGDHL	55753	broad.mit.edu	37	10	50945991	50945991	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:50945991A>G	uc001jie.2	-	19	2659	c.2517_splice	c.e19+1	p.P839_splice	OGDHL_uc009xog.2_Splice_Site_p.P866_splice|OGDHL_uc010qgt.1_Splice_Site_p.P782_splice|OGDHL_uc010qgu.1_Splice_Site_p.P630_splice	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a						glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						ACGGAGACTCACCGGCTTGCG	0.632000												
PCDH15	65217	broad.mit.edu	37	10	55943276	55943276	+	Silent	SNP	C	C	T	rs141416774		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:55943276C>T	uc001jju.1	-	13	1913	c.1518G>A	c.(1516-1518)ACG>ACA	p.T506T	PCDH15_uc010qhq.1_Silent_p.T511T|PCDH15_uc010qhr.1_Silent_p.T506T|PCDH15_uc010qhs.1_Silent_p.T518T|PCDH15_uc010qht.1_Silent_p.T513T|PCDH15_uc010qhu.1_Silent_p.T506T|PCDH15_uc001jjv.1_Silent_p.T484T|PCDH15_uc010qhv.1_Silent_p.T506T|PCDH15_uc010qhw.1_Silent_p.T469T|PCDH15_uc010qhx.1_Silent_p.T506T|PCDH15_uc010qhy.1_Silent_p.T511T|PCDH15_uc010qhz.1_Silent_p.T506T|PCDH15_uc010qia.1_Silent_p.T484T|PCDH15_uc010qib.1_Silent_p.T484T|PCDH15_uc001jjw.2_Silent_p.T506T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	506	Cadherin 4.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				GGAAGGTTGGCGTGTTATCAT	0.388000										HNSCC(58;0.16)		
BICC1	80114	broad.mit.edu	37	10	60573627	60573627	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:60573627A>T	uc001jki.1	+	18	2414	c.2414A>T	c.(2413-2415)GAG>GTG	p.E805V	BICC1_uc001jkj.1_Missense_Mutation_p.E446V	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	805					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AACAGTCGTGAGCACTTGGGA	0.473000												
JMJD1C	221037	broad.mit.edu	37	10	64975328	64975328	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:64975328G>A	uc001jmn.2	-	6	1107	c.807C>T	c.(805-807)AAC>AAT	p.N269N	JMJD1C_uc001jml.2_Silent_p.N50N|JMJD1C_uc001jmm.2_Translation_Start_Site|JMJD1C_uc010qiq.1_Silent_p.N87N|JMJD1C_uc009xpi.2_Silent_p.N87N|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Translation_Start_Site	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	269					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGCGTTGACGTTTTGATTGG	0.353000												
SIRT1	23411	broad.mit.edu	37	10	69669181	69669181	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:69669181C>T	uc001jnd.2	+	7	1392	c.1339C>T	c.(1339-1341)CCA>TCA	p.P447S	SIRT1_uc010qis.1_Missense_Mutation_p.P152S|SIRT1_uc009xpp.2_Missense_Mutation_p.P255S|SIRT1_uc001jne.2_Missense_Mutation_p.P144S	NM_012238	NP_036370	Q96EB6	SIRT1_HUMAN	sirtuin 1 isoform a	447	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding				0						CAAAGTAAGACCAGTAGCACT	0.368000												
CCAR1	55749	broad.mit.edu	37	10	70513638	70513638	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:70513638G>A	uc001joo.2	+	11	1267	c.1148G>A	c.(1147-1149)CGC>CAC	p.R383H	CCAR1_uc001jol.1_RNA|CCAR1_uc001jom.1_Missense_Mutation_p.R188H|CCAR1_uc009xpx.1_Missense_Mutation_p.R357H|CCAR1_uc001jon.1_Missense_Mutation_p.R329H|CCAR1_uc010qiz.1_Missense_Mutation_p.R368H|CCAR1_uc010qja.1_Missense_Mutation_p.R368H|CCAR1_uc010qjb.1_RNA|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	383					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						GAACTAAGGCGCCGTTATCAA	0.353000												
KIAA1274	27143	broad.mit.edu	37	10	72298851	72298851	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:72298851C>A	uc001jrd.3	+	14	1854	c.1573C>A	c.(1573-1575)CTG>ATG	p.L525M	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	525										ovary(2)|central_nervous_system(1)	3						TGCCCAGGCCCTGGGGAGCAT	0.692000												
ADAMTS14	140766	broad.mit.edu	37	10	72468418	72468418	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:72468418C>T	uc001jrh.2	+	4	754	c.754C>T	c.(754-756)CGG>TGG	p.R252W	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R252W	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	252					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						GCGGAAGCGGCGGCATGCCAA	0.617000												
USP54	159195	broad.mit.edu	37	10	75289520	75289520	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75289520A>G	uc001juo.2	-	13	1995	c.1978T>C	c.(1978-1980)TCT>CCT	p.S660P	USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Missense_Mutation_p.S660P|USP54_uc010qkl.1_Missense_Mutation_p.S660P	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	660					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					TCATAGCCAGATTCCATTCGC	0.552000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MYOZ1	58529	broad.mit.edu	37	10	75391878	75391878	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75391878C>T	uc001jur.2	-	6	1075	c.710G>A	c.(709-711)CGC>CAC	p.R237H		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	myozenin 1	237					myofibril assembly	nucleus|pseudopodium	FATZ binding			ovary(2)	2	Prostate(51;0.0112)					GAAGGTCATGCGTTTGGAGGC	0.473000												
SYNPO2L	79933	broad.mit.edu	37	10	75407182	75407182	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75407182G>A	uc001jut.3	-	4	2380	c.2228C>T	c.(2227-2229)GCC>GTC	p.A743V	SYNPO2L_uc001jus.3_Missense_Mutation_p.A519V	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	743	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)					AGCCGAAGAGGCTGCCCCATT	0.637000												
CAMK2G	818	broad.mit.edu	37	10	75585057	75585057	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:75585057C>T	uc001jvv.1	-	14	1139	c.1015G>A	c.(1015-1017)GCG>ACG	p.A339T	CAMK2G_uc001jvm.1_Missense_Mutation_p.A347T|CAMK2G_uc001jvo.1_Intron|CAMK2G_uc001jvq.1_Intron|CAMK2G_uc001jvr.1_Intron|CAMK2G_uc001jvp.1_Missense_Mutation_p.A347T|CAMK2G_uc001jvs.1_Missense_Mutation_p.A368T|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.A325T|CAMK2G_uc010qkv.1_Missense_Mutation_p.A66T|CAMK2G_uc009xrp.1_Intron|CAMK2G_uc001jvw.1_Intron|CAMK2G_uc001jvx.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	358					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					TGCAAGGGCGCGGGCTCTTGG	0.587000												
MYST4	23522	broad.mit.edu	37	10	76790792	76790792	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:76790792C>T	uc001jwn.1	+	18	6703	c.6210C>T	c.(6208-6210)TAC>TAT	p.Y2070Y	MYST4_uc001jwo.1_Silent_p.Y1778Y|MYST4_uc001jwp.1_Silent_p.Y1887Y	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	2070	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					ATGGCTCCTACATGAGAAGGT	0.498000			T	CREBBP	AML							
DLG5	9231	broad.mit.edu	37	10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:79601943G>A	uc001jzk.2	-	7	1203	c.1133C>T	c.(1132-1134)GCG>GTG	p.A378V	DLG5_uc001jzj.2_Missense_Mutation_p.A133V|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_5'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	378					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGTGGATCGCCTCAAACCT	0.652000												
CDHR1	92211	broad.mit.edu	37	10	85973973	85973973	+	Missense_Mutation	SNP	C	C	T	rs141706561		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:85973973C>T	uc001kcv.2	+	17	2176	c.2176C>T	c.(2176-2178)CGC>TGC	p.R726C	CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R430C|CDHR1_uc001kcx.2_Missense_Mutation_p.R40C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	726	Cytoplasmic (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1						CACCTTCTGGCGCAACAAGAA	0.637000												
IFIT5	24138	broad.mit.edu	37	10	91178053	91178053	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:91178053G>A	uc010qnh.1	+	2	1328	c.1097G>A	c.(1096-1098)CGT>CAT	p.R366H	IFIT5_uc010qng.1_Missense_Mutation_p.R318H	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	interferon-induced protein with	366	TPR 6.						binding				0						AAAGCTCTTCGTCTGGAGAAC	0.453000												
MYOF	26509	broad.mit.edu	37	10	95109628	95109628	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:95109628C>T	uc001kin.2	-	36	4143	c.4020G>A	c.(4018-4020)TCG>TCA	p.S1340S	MYOF_uc001kio.2_Silent_p.S1327S|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1340	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4						TGATCACCACCGATTCCACCC	0.443000												
NKX2-3	159296	broad.mit.edu	37	10	101294988	101294988	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:101294988A>G	uc009xwj.2	+	2	804	c.605A>G	c.(604-606)AAG>AGG	p.K202R		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	202	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		CGCAGGTACAAGTGCAAGAGA	0.542000												
TLX1	3195	broad.mit.edu	37	10	102891414	102891414	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:102891414G>A	uc001ksw.2	+	1	354	c.116G>A	c.(115-117)CGC>CAC	p.R39H	TLX1NB_uc001ksv.2_5'Flank	NM_005521	NP_005512	P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCCGCCTCGCGCCTCCAGGAC	0.711000			T	TRB@|TRD@	T-ALL							
BTRC	8945	broad.mit.edu	37	10	103294576	103294576	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:103294576G>A	uc001kta.2	+	10	1369	c.1256G>A	c.(1255-1257)CGG>CAG	p.R419Q	BTRC_uc001ktb.2_Missense_Mutation_p.R383Q|BTRC_uc001ktc.2_Missense_Mutation_p.R393Q	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	419					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ATTACCCTCCGGAGGGTGCTG	0.473000												
TMEM180	79847	broad.mit.edu	37	10	104230502	104230502	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104230502T>C	uc001kvt.2	+	5	551	c.332T>C	c.(331-333)CTG>CCG	p.L111P	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.L111P	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	111	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGCTGGCGCTGTCGTTCCTG	0.682000												
SUFU	51684	broad.mit.edu	37	10	104269058	104269058	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104269058T>C	uc001kvy.1	+	2	461	c.315T>C	c.(313-315)CAT>CAC	p.H105H	SUFU_uc001kvw.1_Silent_p.H105H|SUFU_uc001kvx.2_Silent_p.H105H	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	suppressor of fused	105					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			central_nervous_system(4)|skin(2)|breast(1)	7		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		acagagtccaTGAGTGAGTAT	0.269000			D|F|S		medulloblastoma	medulloblastoma			Medulloblastoma_associated_with_Germline_SUFU_Mutation			
CYP17A1	1586	broad.mit.edu	37	10	104595067	104595067	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104595067A>G	uc001kwg.2	-	2	552	c.380T>C	c.(379-381)CTG>CCG	p.L127P		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	127					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GGCCATCGCCAGCCTTCGATG	0.597000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADD3	120	broad.mit.edu	37	10	111877150	111877150	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:111877150A>G	uc001kyt.3	+	6	851	c.537A>G	c.(535-537)CTA>CTG	p.L179L	ADD3_uc001kys.3_Silent_p.L179L|ADD3_uc001kyu.2_Silent_p.L179L|ADD3_uc001kyv.2_Silent_p.L179L|ADD3_uc001kyw.2_Silent_p.L179L	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma) isoform a	179						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			ovary(2)|skin(2)|large_intestine(1)	5		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCAGAGGCCTATCTTTTTCTG	0.353000												
TCF7L2	6934	broad.mit.edu	37	10	114724358	114724358	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:114724358C>T	uc001lae.3	+	4	932	c.425C>T	c.(424-426)ACG>ATG	p.T142M	TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Missense_Mutation_p.T142M|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Intron|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Intron	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	142					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GCGTACAAAACGATTGAACAC	0.413000												
TCF7L2	6934	broad.mit.edu	37	10	114900993	114900993	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:114900993G>A	uc001lae.3	+	6	1110	c.603G>A	c.(601-603)ACG>ACA	p.T201T	TCF7L2_uc001lac.3_Silent_p.T178T|TCF7L2_uc010qrk.1_Silent_p.T178T|TCF7L2_uc010qrl.1_Silent_p.T178T|TCF7L2_uc010qrm.1_Silent_p.T201T|TCF7L2_uc010qrn.1_Silent_p.T144T|TCF7L2_uc001lad.3_Silent_p.T178T|TCF7L2_uc001lag.3_Silent_p.T225T|TCF7L2_uc001laf.3_Silent_p.T178T|TCF7L2_uc010qro.1_Silent_p.T178T|TCF7L2_uc001lah.2_Silent_p.T178T|TCF7L2_uc010qrp.1_Silent_p.T178T|TCF7L2_uc010qrq.1_Silent_p.T178T|TCF7L2_uc010qrr.1_Silent_p.T120T|TCF7L2_uc010qrs.1_Silent_p.T72T|TCF7L2_uc010qrt.1_Silent_p.T72T|TCF7L2_uc010qru.1_Silent_p.T95T|TCF7L2_uc010qrv.1_Silent_p.T18T|TCF7L2_uc010qrw.1_5'UTR|TCF7L2_uc010qrx.1_Silent_p.T58T	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 isoform 1	201	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACCCCCTCACGCCTCTTATCA	0.577000												
NRAP	4892	broad.mit.edu	37	10	115411638	115411638	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:115411638C>T	uc001laj.2	-	7	763	c.599G>A	c.(598-600)CGC>CAC	p.R200H	NRAP_uc001lak.2_Missense_Mutation_p.R200H|NRAP_uc001lal.3_Missense_Mutation_p.R200H	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	200	Nebulin 3.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTGGAGATGCGTTCATCATG	0.532000												
NRAP	4892	broad.mit.edu	37	10	115413830	115413830	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:115413830G>A	uc001laj.2	-	5	579	c.415C>T	c.(415-417)CCA>TCA	p.P139S	NRAP_uc001lak.2_Missense_Mutation_p.P139S|NRAP_uc001lal.3_Missense_Mutation_p.P139S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	139						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCGGGGTCTGGCAGAGCTCCT	0.478000												
NHLRC2	374354	broad.mit.edu	37	10	115661456	115661456	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:115661456G>A	uc001lax.1	+	7	1383	c.1171G>A	c.(1171-1173)GCT>ACT	p.A391T	NHLRC2_uc001lay.1_RNA	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	391					cell redox homeostasis					ovary(1)	1				Epithelial(162;0.017)|all cancers(201;0.0187)		CCTTAGGTTTGCTGGAAGTGG	0.423000												
VWA2	340706	broad.mit.edu	37	10	116049203	116049203	+	Missense_Mutation	SNP	G	G	A	rs142413003		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:116049203G>A	uc001lbl.1	+	12	2398	c.2077G>A	c.(2077-2079)GAC>AAC	p.D693N	VWA2_uc001lbk.1_Missense_Mutation_p.D693N|VWA2_uc009xyf.1_Missense_Mutation_p.D389N	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	693	VWFA 3.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		AGCTTACGCCGACCTGCGGTA	0.647000												
FAM45A	404636	broad.mit.edu	37	10	120883018	120883018	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:120883018A>G	uc001ldw.2	+	6	675	c.631A>G	c.(631-633)ACC>GCC	p.T211A	FAM45A_uc010qsv.1_Missense_Mutation_p.T203A|FAM45A_uc010qsw.1_Missense_Mutation_p.T60A|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.T138A|FAM45A_uc010qsz.1_Missense_Mutation_p.T100A	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	hypothetical protein LOC404636	211										ovary(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACAGGACTGGACCATCCTTCA	0.502000												
FGFR2	2263	broad.mit.edu	37	10	123279676	123279676	+	Silent	SNP	C	C	T	rs138769323		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:123279676C>T	uc010qtk.1	-	7	1403	c.756G>A	c.(754-756)TCG>TCA	p.S252S	FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Silent_p.S137S|FGFR2_uc010qti.1_Silent_p.S163S|FGFR2_uc010qtj.1_Silent_p.S252S|FGFR2_uc010qtl.1_Silent_p.S252S|FGFR2_uc010qtm.1_Silent_p.S137S|FGFR2_uc001lfl.3_Silent_p.S252S|FGFR2_uc001lfm.2_Silent_p.S163S|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Silent_p.S271S|FGFR2_uc010qto.1_Silent_p.S156S|FGFR2_uc001lfo.1_Silent_p.S271S|FGFR2_uc010qtp.1_Silent_p.S271S|FGFR2_uc001lfg.3_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	252	Extracellular (Potential).		S -> W (in APRS and PS; common mutation).|S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|SP -> FS (in PS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.S252W(19)		endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCCGGTGAGGCGATCGCTCTG	0.562000		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
PLEKHA1	59338	broad.mit.edu	37	10	124189200	124189200	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:124189200G>A	uc001lge.1	+	12	1084	c.961G>A	c.(961-963)GCC>ACC	p.A321T	PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.A321T	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A	321					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			kidney(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGCAGCCACCGCCACCTCACA	0.547000												
HTRA1	5654	broad.mit.edu	37	10	124273782	124273782	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:124273782C>T	uc001lgj.2	+	9	1478	c.1350C>T	c.(1348-1350)GAC>GAT	p.D450D		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1 precursor	450	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity				0		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGTCAGCGACGTCATTAAAA	0.483000												
DMBT1	1755	broad.mit.edu	37	10	124345642	124345642	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:124345642T>C	uc001lgk.1	+	16	1632	c.1526T>C	c.(1525-1527)GTC>GCC	p.V509A	DMBT1_uc001lgl.1_Missense_Mutation_p.V499A|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.V509A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	509	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGAGTGGAGGTCCTATACCGA	0.582000												
ZRANB1	54764	broad.mit.edu	37	10	126673497	126673497	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:126673497G>A	uc001lic.2	+	9	2434	c.2063G>A	c.(2062-2064)CGA>CAA	p.R688Q	ZRANB1_uc010qug.1_Missense_Mutation_p.R714Q	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	688					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GACCGCTACCGACAGATCCGG	0.507000												
CLRN3	119467	broad.mit.edu	37	10	129682059	129682059	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:129682059A>G	uc001lka.1	-	2	473	c.310T>C	c.(310-312)TCG>CCG	p.S104P	CLRN3_uc001ljz.1_Missense_Mutation_p.S36P	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	clarin 3	104	Helical; (Potential).					integral to membrane				skin(1)	1		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				CTCAGCAGCGACGTGATCAAA	0.488000												
TUBGCP2	10844	broad.mit.edu	37	10	135096605	135096605	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:135096605C>T	uc001lmg.1	-	15	2623	c.2266G>A	c.(2266-2268)GTC>ATC	p.V756I	TUBGCP2_uc001lmf.1_Missense_Mutation_p.V349I|TUBGCP2_uc010qvc.1_Missense_Mutation_p.V784I|TUBGCP2_uc009ybk.1_Missense_Mutation_p.V779I|TUBGCP2_uc010qvd.1_Missense_Mutation_p.V626I|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	756					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GTGAACATGACGCACACAGAC	0.632000												
PTDSS2	81490	broad.mit.edu	37	11	486958	486958	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:486958A>C	uc001lpj.2	+	5	631	c.455A>C	c.(454-456)CAG>CCG	p.Q152P		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	152	Extracellular (Potential).					integral to membrane					0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GACGGCCGGCAGTTTCTAAAG	0.542000												
RASSF7	8045	broad.mit.edu	37	11	562253	562253	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:562253G>A	uc001lqc.2	+	3	334	c.299G>A	c.(298-300)TGT>TAT	p.C100Y	C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.C100Y|RASSF7_uc001lqb.2_Missense_Mutation_p.C100Y|RASSF7_uc001lqd.2_Missense_Mutation_p.C100Y	NM_003475	NP_003466	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family	100					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			skin(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCAGACAGCTGTCCACCCCCG	0.672000												
MUC5B	727897	broad.mit.edu	37	11	1250965	1250965	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:1250965G>T	uc009ycr.1	+	26	3251	c.3125G>T	c.(3124-3126)GGG>GTG	p.G1042V	MUC5B_uc009yct.1_Missense_Mutation_p.G383V|MUC5B_uc001ltb.2_Missense_Mutation_p.G386V|MUC5B_uc001lta.2_Missense_Mutation_p.G51V	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	383	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCCCCTCGGGCAGTGCCCC	0.697000												
BRSK2	9024	broad.mit.edu	37	11	1471011	1471011	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:1471011G>A	uc001lti.2	+	13	1618	c.1232G>A	c.(1231-1233)CGG>CAG	p.R411Q	BRSK2_uc009ycv.1_Missense_Mutation_p.R433Q|BRSK2_uc001lth.1_Missense_Mutation_p.R411Q|BRSK2_uc001ltj.2_Missense_Mutation_p.R411Q|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.R411Q|BRSK2_uc001ltm.2_Missense_Mutation_p.R457Q|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_5'Flank	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	411					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCAGGTCTCGGTCCATCAGC	0.687000												
KRTAP5-5	439915	broad.mit.edu	37	11	1651222	1651222	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:1651222G>A	uc001lty.2	+	1	190	c.152G>A	c.(151-153)GGC>GAC	p.G51D		NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	51						keratin filament				lung(1)	1		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggctccggctgtgcgggc	0.199000												
OR56A1	120796	broad.mit.edu	37	11	6048455	6048455	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6048455C>T	uc010qzw.1	-	1	480	c.480G>A	c.(478-480)GCG>GCA	p.A160A		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTAAGAAGCGCATTCCGCA	0.498000												
OR52W1	120787	broad.mit.edu	37	11	6221292	6221292	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6221292T>A	uc010qzz.1	+	1	839	c.839T>A	c.(838-840)ATC>AAC	p.I280N		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGTGCACATCCTTCTCTCC	0.537000												
DNHD1	144132	broad.mit.edu	37	11	6524067	6524067	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6524067T>C	uc001mdw.3	+	4	1395	c.831T>C	c.(829-831)GAT>GAC	p.D277D	DNHD1_uc001mdp.2_Silent_p.D277D	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	277					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTCCTGGATAGCCAGGTGA	0.488000												
ILK	3611	broad.mit.edu	37	11	6630018	6630018	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6630018G>A	uc001mee.2	+	5	581	c.446G>A	c.(445-447)CGA>CAA	p.R149Q	ILK_uc001mef.2_Missense_Mutation_p.R149Q|ILK_uc010rap.1_Missense_Mutation_p.R15Q|ILK_uc010raq.1_Intron|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Missense_Mutation_p.R149Q|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	149	ANK 5.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GAGCTTCTCCGAGGTCCATCT	0.552000												
OR2D2	120776	broad.mit.edu	37	11	6913395	6913395	+	Missense_Mutation	SNP	C	C	T	rs147307045	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6913395C>T	uc010rau.1	-	1	337	c.337G>A	c.(337-339)GCC>ACC	p.A113T		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	113	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAAGAAGGGCGCACTGGGTA	0.488000												
AMPD3	272	broad.mit.edu	37	11	10524275	10524275	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:10524275T>C	uc001mio.1	+	13	2185	c.1850T>C	c.(1849-1851)GTA>GCA	p.V617A	AMPD3_uc010rbz.1_Missense_Mutation_p.V458A|AMPD3_uc001min.1_Missense_Mutation_p.V626A|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.V624A|AMPD3_uc009yfy.2_Missense_Mutation_p.V617A	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	617					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGAGTCCGGTATTGCAGTAT	0.363000												
RNF141	50862	broad.mit.edu	37	11	10536575	10536575	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:10536575T>C	uc001mis.1	-	6	734	c.581A>G	c.(580-582)CAG>CGG	p.Q194R	RNF141_uc009yga.1_RNA	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	ring finger protein 141	194							zinc ion binding				0				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		TCCAGTCATCTGTAGGCGACA	0.403000												
COPB1	1315	broad.mit.edu	37	11	14496077	14496077	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:14496077G>A	uc001mli.2	-	14	2008	c.1701C>T	c.(1699-1701)CGC>CGT	p.R567R	COPB1_uc001mlg.2_Silent_p.R567R|COPB1_uc001mlh.2_Silent_p.R567R	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	567					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2						AAGCTACATAGCGCAATGCAA	0.328000												
ABCC8	6833	broad.mit.edu	37	11	17464410	17464410	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:17464410A>G	uc001mnc.2	-	10	1613	c.1487T>C	c.(1486-1488)CTG>CCG	p.L496P	ABCC8_uc010rcy.1_Missense_Mutation_p.L495P	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C, member 8	496	Cytoplasmic (By similarity).|ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGTCTGCTTCAGCCGCTCATT	0.612000												
KCNC1	3746	broad.mit.edu	37	11	17793944	17793944	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:17793944A>G	uc001mnk.3	+	2	1358	c.1303A>G	c.(1303-1305)ATC>GTC	p.I435V	KCNC1_uc009yhc.1_Missense_Mutation_p.I435V	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	435	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						CGTGCCCGTCATCGTGAACAA	0.572000												
NAV2	89797	broad.mit.edu	37	11	20066984	20066984	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:20066984G>T	uc010rdm.1	+	15	4100	c.3739G>T	c.(3739-3741)GGC>TGC	p.G1247C	NAV2_uc001mpp.2_Missense_Mutation_p.G1160C|NAV2_uc001mpr.3_Missense_Mutation_p.G1224C|NAV2_uc001mpt.2_Missense_Mutation_p.G310C|NAV2_uc009yhx.2_Missense_Mutation_p.G310C|NAV2_uc009yhy.1_Missense_Mutation_p.G223C	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	1247						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						CAAGTCCGCAGGCCTGCCAGT	0.567000												
NAV2	89797	broad.mit.edu	37	11	20113820	20113820	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:20113820C>T	uc001mpr.3	+	28	6091	c.5730C>T	c.(5728-5730)AGC>AGT	p.S1910S	NAV2_uc001mpp.2_Silent_p.S1843S|NAV2_uc009yhx.2_Silent_p.S971S|NAV2_uc009yhz.2_Silent_p.S552S|NAV2_uc001mpu.2_Silent_p.S345S	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 1	1966						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GTGGCTGCAGCCGGGCTCCTT	0.547000												
C11orf41	25758	broad.mit.edu	37	11	33565884	33565884	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:33565884T>C	uc001mup.3	+	1	2008	c.1884T>C	c.(1882-1884)GGT>GGC	p.G628G	C11orf41_uc001mun.1_Silent_p.G628G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to membrane				ovary(2)	2						AATGGACAGGTGCAGCCACTA	0.507000												
ACCS	84680	broad.mit.edu	37	11	44102617	44102617	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:44102617T>C	uc009yks.1	+	11	1113	c.969_splice	c.e11+2	p.K323_splice	EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Splice_Site_p.K323_splice	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(2)|ovary(1)|lung(1)	4						ACCAGCAAGGTGAGTTCCTGG	0.617000												
DGKZ	8525	broad.mit.edu	37	11	46388002	46388002	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:46388002A>G	uc001ncn.1	+	2	321	c.196A>G	c.(196-198)AGG>GGG	p.R66G	DGKZ_uc001nch.1_Intron|DGKZ_uc010rgq.1_Intron|DGKZ_uc001ncj.1_Intron|DGKZ_uc010rgr.1_Intron|DGKZ_uc001nck.1_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.1_Intron	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	66					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TTGCGGGGTGAGGGCCCAGGG	0.716000												
AMBRA1	55626	broad.mit.edu	37	11	46564191	46564191	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:46564191T>C	uc010rgu.1	-	7	1736	c.1376A>G	c.(1375-1377)CAG>CGG	p.Q459R	AMBRA1_uc010rgt.1_Missense_Mutation_p.Q25R|AMBRA1_uc009ylc.1_Missense_Mutation_p.Q459R|AMBRA1_uc001ncu.1_Missense_Mutation_p.Q369R|AMBRA1_uc001ncv.2_Missense_Mutation_p.Q369R|AMBRA1_uc001ncw.2_Missense_Mutation_p.Q369R|AMBRA1_uc001ncx.2_Missense_Mutation_p.Q459R	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	459					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CACAGATGCCTGAGAGCCACC	0.577000												
F2	2147	broad.mit.edu	37	11	46747567	46747567	+	Missense_Mutation	SNP	G	G	T	rs141678604		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:46747567G>T	uc001ndf.3	+	7	761	c.718G>T	c.(718-720)GCA>TCA	p.A240S	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	240	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CTGGGCCAGCGCACAGGCCAA	0.657000												
NR1H3	10062	broad.mit.edu	37	11	47282096	47282096	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:47282096C>T	uc009ylm.2	+	4	590	c.369C>T	c.(367-369)CGC>CGT	p.R123R	NR1H3_uc009yll.1_Silent_p.R129R|NR1H3_uc010rhk.1_Silent_p.R129R|NR1H3_uc001nek.2_Silent_p.R78R|NR1H3_uc001nej.2_Silent_p.R123R|NR1H3_uc001nel.2_Silent_p.R78R|NR1H3_uc001nen.3_Silent_p.R123R|NR1H3_uc001nem.2_Silent_p.R123R|NR1H3_uc001nep.2_Silent_p.R32R	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	123	Nuclear receptor.				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			ovary(2)|lung(1)	3						GATTCTTCCGCCGCAGCGTCA	0.607000												
C1QTNF4	114900	broad.mit.edu	37	11	47612277	47612277	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:47612277C>T	uc001ngc.2	-	2	353	c.86G>A	c.(85-87)CGC>CAC	p.R29H		NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	29	C1q 1.					extracellular region					0						GAAGGCCGAGCGCAGCTCAGA	0.716000												
OR5L1	219437	broad.mit.edu	37	11	55579770	55579770	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:55579770G>T	uc001nhw.1	+	1	828	c.828G>T	c.(826-828)GTG>GTT	p.V276V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	276	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)				TGGCCACCGTGTTCTACACAG	0.463000												
OR5I1	10798	broad.mit.edu	37	11	55703317	55703317	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:55703317A>G	uc010ris.1	-	1	560	c.560T>C	c.(559-561)CTT>CCT	p.L187P		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGATAGTTTAAGCAGGGGAGG	0.403000												
OR5M10	390167	broad.mit.edu	37	11	56345112	56345112	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:56345112C>A	uc001niz.1	-	1	86	c.86G>T	c.(85-87)GGG>GTG	p.G29V		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	29	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAGGAACACCCCAAACAGGAT	0.468000												
PRG3	10394	broad.mit.edu	37	11	57146221	57146221	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:57146221C>T	uc001njv.1	-	4	550	c.440G>A	c.(439-441)CGC>CAC	p.R147H		NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3 precursor	147	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding				0						GCACTGAATGCGATAGTTGAA	0.507000												
OSBP	5007	broad.mit.edu	37	11	59345670	59345670	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:59345670T>C	uc001noc.1	-	12	2492	c.2012A>G	c.(2011-2013)CAT>CGT	p.H671R	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	671					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTCTGCTTCATGGCCTCTCTG	0.498000												
OSBP	5007	broad.mit.edu	37	11	59345799	59345799	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:59345799G>A	uc001noc.1	-	12	2363	c.1883C>T	c.(1882-1884)ACG>ATG	p.T628M	OSBP_uc009ymr.1_RNA	NM_002556	NP_002547	P22059	OSBP1_HUMAN	oxysterol binding protein	628					lipid transport	Golgi membrane	oxysterol binding			large_intestine(1)	1		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CACTTCCCCCGTCACCTGCAA	0.453000												
PATL1	219988	broad.mit.edu	37	11	59425190	59425190	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:59425190G>T	uc001noe.3	-	5	577	c.434C>A	c.(433-435)CCT>CAT	p.P145H	PATL1_uc009yms.1_Missense_Mutation_p.P145H|PATL1_uc010rkw.1_5'UTR	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog	145	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			ovary(1)	1						AGACACTGTAGGCATTTCCTA	0.393000												
DDB1	1642	broad.mit.edu	37	11	61099040	61099040	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61099040G>A	uc001nrc.3	-	2	411	c.185C>T	c.(184-186)GCG>GTG	p.A62V	DDB1_uc010rle.1_Missense_Mutation_p.A62V|DDB1_uc010rlf.1_Missense_Mutation_p.A62V|DDB1_uc001nrd.2_Missense_Mutation_p.A62V|DDB1_uc009ynl.1_Missense_Mutation_p.A62V|DAK_uc001nre.2_5'Flank	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	62	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						CTCCATGACCGCAATCTTCCC	0.483000								NER				
DAGLA	747	broad.mit.edu	37	11	61511766	61511766	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61511766C>A	uc001nsa.2	+	20	3045	c.2934C>A	c.(2932-2934)GGC>GGA	p.G978G		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	978	Cytoplasmic (Potential).				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3				READ - Rectum adenocarcinoma(4;0.219)		TCTTTGCCGGCTCAGCCGACC	0.677000												
FADS2	9415	broad.mit.edu	37	11	61596030	61596030	+	Silent	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61596030C>G	uc001nsl.1	+	1	318	c.168C>G	c.(166-168)GGC>GGG	p.G56G	FADS2_uc001nsj.2_Intron|FADS2_uc010rlo.1_Intron|FADS2_uc001nsk.2_Silent_p.G56G	NM_004265	NP_004256	O95864	FADS2_HUMAN	fatty acid desaturase 2	56	Cytoplasmic (Potential).|Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			ovary(1)|pancreas(1)	2					Alpha-Linolenic Acid(DB00132)	ACCCGGGGGGCCAGCGGGTCA	0.617000											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SCGB1A1	7356	broad.mit.edu	37	11	62189743	62189743	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:62189743A>G	uc001ntj.2	+	2	151	c.106A>G	c.(106-108)ATG>GTG	p.M36V		NM_003357	NP_003348	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1	36					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity				0						AACCCTCCTCATGGACACACC	0.557000												
AHNAK	79026	broad.mit.edu	37	11	62299673	62299673	+	Missense_Mutation	SNP	T	T	C	rs144440482		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:62299673T>C	uc001ntl.2	-	5	2516	c.2216A>G	c.(2215-2217)GAT>GGT	p.D739G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	739					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCCATGAACATCCACATCTGG	0.488000												
SLC22A10	387775	broad.mit.edu	37	11	63064835	63064835	+	Silent	SNP	C	C	T	rs150847763	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63064835C>T	uc009yor.2	+	3	775	c.567C>T	c.(565-567)TGC>TGT	p.C189C	SLC22A10_uc010rmo.1_RNA|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	189	Cytoplasmic (Potential).					integral to membrane	transmembrane transporter activity			ovary(2)	2						CTGACACCTGCGCTGCCTTCG	0.433000												
RARRES3	5920	broad.mit.edu	37	11	63313655	63313655	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63313655C>T	uc001nxf.3	+	4	490	c.422C>T	c.(421-423)ACG>ATG	p.T141M		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene	141					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			ovary(1)	1						GGTGTGGCCACGGCGCTTGGA	0.512000												
MAP4K2	5871	broad.mit.edu	37	11	64566945	64566945	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64566945T>G	uc001obh.2	-	14	1093	c.1001A>C	c.(1000-1002)CAG>CCG	p.Q334P	MAP4K2_uc001obi.2_Missense_Mutation_p.Q334P	NM_004579	NP_004570	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase	334					activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(1)|pancreas(1)	2						AAATTTCACCTGGTGAACTGG	0.592000												
PPP2R5B	5526	broad.mit.edu	37	11	64695592	64695592	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64695592G>A	uc001oby.2	+	5	1138	c.553G>A	c.(553-555)GTG>ATG	p.V185M	PPP2R5B_uc001obz.2_Missense_Mutation_p.V185M	NM_006244	NP_006235	Q15173	2A5B_HUMAN	beta isoform of regulatory subunit B56, protein	185					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			ovary(2)	2						CCAGCCCTCCGTGGCCAAGAG	0.557000												
SYVN1	84447	broad.mit.edu	37	11	64899754	64899754	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64899754G>T	uc001odb.2	-	6	590	c.496C>A	c.(496-498)CGT>AGT	p.R166S	SYVN1_uc001odc.2_Missense_Mutation_p.R166S|SYVN1_uc009yqc.2_Intron	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	synoviolin 1 isoform b	166	Cytoplasmic (Potential).				ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(1)	1						GAGGCCCCACGGGTCAGGATG	0.587000												
EHBP1L1	254102	broad.mit.edu	37	11	65349561	65349561	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:65349561A>G	uc001oeo.3	+	9	1683	c.1418A>G	c.(1417-1419)GAG>GGG	p.E473G	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	473										central_nervous_system(1)	1						ACCAGGGATGAGGCTCCCTCA	0.687000												
DRAP1	10589	broad.mit.edu	37	11	65687309	65687309	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:65687309T>C	uc001ogj.1	+	2	346	c.101T>C	c.(100-102)GTG>GCG	p.V34A	C11orf68_uc009yqv.2_5'Flank|C11orf68_uc001ogi.2_5'Flank	NM_006442	NP_006433	Q14919	NC2A_HUMAN	DR1-associated protein 1	34	Histone-fold.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				READ - Rectum adenocarcinoma(159;0.166)		GCGGCGGCGGTGCCTGTCATC	0.682000												
CATSPER1	117144	broad.mit.edu	37	11	65784571	65784571	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:65784571T>G	uc001ogt.2	-	11	2414	c.2276A>C	c.(2275-2277)CAG>CCG	p.Q759P		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	759	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GACGGCTGCCTGGGAGCGGAA	0.647000												
TMEM151A	256472	broad.mit.edu	37	11	66061945	66061945	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66061945C>T	uc001ohl.2	+	2	340	c.228C>T	c.(226-228)GCC>GCT	p.A76A		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	76						integral to membrane				central_nervous_system(1)	1						GGCCCGAGGCCGCCTTGGCCC	0.736000												
TMEM151A	256472	broad.mit.edu	37	11	66061972	66061972	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66061972G>A	uc001ohl.2	+	2	367	c.255G>A	c.(253-255)CCG>CCA	p.P85P		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	85						integral to membrane				central_nervous_system(1)	1						CCGGGGGCCCGCCACCGACCT	0.736000												
SPTBN2	6712	broad.mit.edu	37	11	66463954	66463954	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66463954G>T	uc001ojd.2	-	20	4144	c.4072C>A	c.(4072-4074)CTG>ATG	p.L1358M		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1358	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGGTCTCTCAGCTTCTCCGAC	0.587000												
PPP1CA	5499	broad.mit.edu	37	11	67166078	67166078	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:67166078C>T	uc001okw.1	-	7	1044	c.921G>A	c.(919-921)GGG>GGA	p.G307G	PPP1CA_uc009yro.1_Silent_p.G125G|PPP1CA_uc001okt.1_Silent_p.G312G|PPP1CA_uc001oku.1_Silent_p.G318G|PPP1CA_uc001okv.1_Silent_p.G263G|PPP1CA_uc001okx.1_Silent_p.G395G|PPP1CA_uc001oky.2_Silent_p.G304G	NM_002708	NP_002699	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha	307					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CACTGAACTGCCCGTACTTCC	0.607000												
LRP5	4041	broad.mit.edu	37	11	68153910	68153910	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:68153910A>G	uc001ont.2	+	6	1217	c.1142A>G	c.(1141-1143)GAC>GGC	p.D381G	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	381	Beta-propeller 2.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ATCGACTACGACCCGCTAGAG	0.652000												
SAPS3	55291	broad.mit.edu	37	11	68341661	68341661	+	Silent	SNP	C	C	T	rs114505709	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:68341661C>T	uc001onw.2	+	13	1695	c.1428C>T	c.(1426-1428)CCC>CCT	p.P476P	SAPS3_uc001onv.2_Silent_p.P476P|SAPS3_uc001ony.3_Silent_p.P476P|SAPS3_uc001onx.2_Silent_p.P476P|SAPS3_uc009ysh.2_Silent_p.P425P|SAPS3_uc001onu.2_Silent_p.P425P|SAPS3_uc010rqc.1_Silent_p.P244P|SAPS3_uc010rqd.1_Silent_p.P188P|SAPS3_uc001onz.2_5'Flank	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	476					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			ACAAGGGCCCCAACAGTGCAT	0.448000												
SHANK2	22941	broad.mit.edu	37	11	70332338	70332338	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:70332338C>T	uc001oqc.2	-	21	4138	c.4060G>A	c.(4060-4062)GAA>AAA	p.E1354K	SHANK2_uc010rqn.1_Missense_Mutation_p.E766K|SHANK2_uc001opz.2_Missense_Mutation_p.E759K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	975					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTTCGGTTTCGGAAACACCT	0.617000												
DHCR7	1717	broad.mit.edu	37	11	71150032	71150032	+	Missense_Mutation	SNP	G	G	A	rs80338856		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:71150032G>A	uc001oqk.2	-	7	974	c.724C>T	c.(724-726)CGC>TGC	p.R242C	DHCR7_uc001oql.2_Missense_Mutation_p.R242C	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	242			R -> H (in SLOS).|R -> C (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)	ATCCCGGGGCGCCCATTGAAG	0.532000									Smith-Lemli-Opitz_syndrome			
INPPL1	3636	broad.mit.edu	37	11	71948719	71948719	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:71948719C>T	uc001osf.2	+	26	3578	c.3431C>T	c.(3430-3432)GCG>GTG	p.A1144V	INPPL1_uc001osg.2_Missense_Mutation_p.A902V	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1144					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						GCACGCTCAGCGCTCCTCCCA	0.706000												
STARD10	10809	broad.mit.edu	37	11	72466074	72466074	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:72466074C>T	uc001osy.2	-	7	1035	c.744G>A	c.(742-744)GCG>GCA	p.A248A	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Silent_p.A248A|STARD10_uc001ota.2_Silent_p.A202A|STARD10_uc001otb.2_Silent_p.A248A|ARAP1_uc001osu.2_5'Flank	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	248											0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			GCTCCGACAGCGCCAGGCTCG	0.667000												
STARD10	10809	broad.mit.edu	37	11	72469592	72469592	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:72469592A>G	uc001osy.2	-	4	733	c.442T>C	c.(442-444)TAC>CAC	p.Y148H	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.Y148H|STARD10_uc001ota.2_Missense_Mutation_p.Y102H|STARD10_uc001otb.2_Missense_Mutation_p.Y148H	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	148	START.										0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			TTGACTGAGTAGTTCATAATG	0.393000												
C11orf82	220042	broad.mit.edu	37	11	82643483	82643483	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:82643483A>G	uc001ozt.2	+	6	1347	c.1103A>G	c.(1102-1104)CAT>CGT	p.H368R	C11orf82_uc010rsr.1_Missense_Mutation_p.H67R|C11orf82_uc010rss.1_Missense_Mutation_p.H67R|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	368					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2						AGGTCCCAGCATGAGCTACCA	0.413000												
GRM5	2915	broad.mit.edu	37	11	88242557	88242557	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:88242557C>T	uc001pcq.2	-	9	3042	c.2842G>A	c.(2842-2844)GTC>ATC	p.V948I	GRM5_uc009yvm.2_Missense_Mutation_p.V916I	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	948	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGCTTGATGACGGCCGTTTGG	0.687000												
FAT3	120114	broad.mit.edu	37	11	92087537	92087537	+	Silent	SNP	C	C	T	rs114589936	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:92087537C>T	uc001pdj.3	+	1	2276	c.2259C>T	c.(2257-2259)GCC>GCT	p.A753A		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	753	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTATGATGCCGACTCTGGCT	0.403000										TCGA Ovarian(4;0.039)		
KDM4D	55693	broad.mit.edu	37	11	94731056	94731056	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:94731056G>T	uc001pfe.2	+	3	1352	c.520G>T	c.(520-522)GGC>TGC	p.G174C		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	174	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						TGTCATAGAAGGCGTCAATAC	0.468000												
MTMR2	8898	broad.mit.edu	37	11	95591764	95591764	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:95591764A>G	uc001pfu.2	-	6	754	c.501T>C	c.(499-501)CCT>CCC	p.P167P	MTMR2_uc001pfv.2_Silent_p.P95P|MTMR2_uc001pfs.2_Silent_p.P95P|MTMR2_uc001pft.2_Silent_p.P95P|MTMR2_uc010ruj.1_Silent_p.P150P	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	167						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCGCCCCTCAGGTTTATGAG	0.313000												
MAML2	84441	broad.mit.edu	37	11	95826235	95826235	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:95826235G>A	uc001pfw.1	-	2	2245	c.960C>T	c.(958-960)CCC>CCT	p.P320P		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	320					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGTCACTCATGGGAGGCACAG	0.463000			T	MECT1|CRTC3	salivary gland mucoepidermoid							
PPP2R1B	5519	broad.mit.edu	37	11	111631733	111631733	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:111631733G>A	uc001plx.1	-	4	433	c.349C>T	c.(349-351)CGT>TGT	p.R117C	PPP2R1B_uc001plw.1_Missense_Mutation_p.R117C|PPP2R1B_uc010rwi.1_Missense_Mutation_p.R53C|PPP2R1B_uc010rwj.1_Intron|PPP2R1B_uc010rwk.1_Missense_Mutation_p.R117C|PPP2R1B_uc010rwl.1_Intron	NM_002716	NP_002707	P30154	2AAB_HUMAN	beta isoform of regulatory subunit A, protein	117	HEAT 3.						protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GCCTTGTCACGAACAACAGTC	0.443000												
HTR3A	3359	broad.mit.edu	37	11	113853935	113853935	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:113853935C>A	uc010rxb.1	+	5	719	c.486C>A	c.(484-486)GCC>GCA	p.A162A	HTR3A_uc010rxa.1_Silent_p.A162A|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.A141A	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	156	Extracellular (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TGGTGACTGCCTGTAGCCTCG	0.552000												
FAM55D	54827	broad.mit.edu	37	11	114453198	114453198	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:114453198T>C	uc001ppc.2	-	3	823	c.642A>G	c.(640-642)CAA>CAG	p.Q214Q	FAM55D_uc001ppd.2_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	214						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CAGAGTGGACTTGGGAAGTGC	0.512000												
APOA1	335	broad.mit.edu	37	11	116706800	116706800	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:116706800C>T	uc001ppu.1	-	4	607	c.528G>A	c.(526-528)GCG>GCA	p.A176A	APOA1_uc001ppv.1_Silent_p.A176A	NM_000039	NP_000030	P02647	APOA1_HUMAN	apolipoprotein A-I preproprotein	176	6.|10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CATGGGCGCGCGCGCGGTCGC	0.711000												
PCSK7	9159	broad.mit.edu	37	11	117097932	117097932	+	Missense_Mutation	SNP	G	G	A	rs143167780	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:117097932G>A	uc001pqr.2	-	5	911	c.710C>T	c.(709-711)GCG>GTG	p.A237V		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	237	Catalytic.|Extracellular (Potential).				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGCACAGCCGCGATCTCTCC	0.612000			T	IGH@	MLCLS							
CEP164	22897	broad.mit.edu	37	11	117253535	117253535	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:117253535C>T	uc001prc.2	+	14	1748	c.1601C>T	c.(1600-1602)GCT>GTT	p.A534V	CEP164_uc001prb.2_Missense_Mutation_p.A537V|CEP164_uc010rxk.1_Missense_Mutation_p.A508V|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	534	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGCCCACCTGCTGCCTGTGAG	0.582000												
DSCAML1	57453	broad.mit.edu	37	11	117307927	117307927	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:117307927G>A	uc001prh.1	-	26	4813	c.4811C>T	c.(4810-4812)GCC>GTC	p.A1604V		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1544	Extracellular (Potential).|Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			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)		GTACCACGTGGCCTCTCGCAG	0.642000												
ARCN1	372	broad.mit.edu	37	11	118452034	118452034	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118452034G>A	uc001ptq.2	+	2	238	c.77G>A	c.(76-78)CGA>CAA	p.R26Q	ARCN1_uc009zah.2_Missense_Mutation_p.R26Q|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Missense_Mutation_p.R67Q	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	26					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GAAATGACCCGAACTCGGATT	0.443000												
ARCN1	372	broad.mit.edu	37	11	118454013	118454013	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118454013G>A	uc001ptq.2	+	3	548	c.387G>A	c.(385-387)CAG>CAA	p.Q129Q	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Silent_p.Q41Q|ARCN1_uc009zag.2_Silent_p.Q170Q	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	129					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTTGGCACAGATCAGAACCT	0.413000												
BCL9L	283149	broad.mit.edu	37	11	118769978	118769978	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118769978A>G	uc001pug.2	-	8	4611	c.3646T>C	c.(3646-3648)TGT>CGT	p.C1216R	BCL9L_uc009zal.2_Missense_Mutation_p.C1211R	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1216	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ACTGGGCCACAGGGGGCATTC	0.697000												
ARHGEF12	23365	broad.mit.edu	37	11	120337927	120337927	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:120337927C>A	uc001pxl.1	+	29	2771	c.2764C>A	c.(2764-2766)CGT>AGT	p.R922S	ARHGEF12_uc009zat.2_Missense_Mutation_p.R903S|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R819S|ARHGEF12_uc009zau.1_Missense_Mutation_p.R819S	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	922	DH.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCCACTGTGTCGTCGTCTTCA	0.363000			T	MLL	AML							
OR6T1	219874	broad.mit.edu	37	11	123814132	123814132	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:123814132G>A	uc010sab.1	-	1	414	c.414C>T	c.(412-414)GGC>GGT	p.G138G		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AACAGACATGGCCATTCATCA	0.567000												
STT3A	3703	broad.mit.edu	37	11	125475553	125475553	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:125475553T>C	uc001qcd.2	+	7	648	c.538T>C	c.(538-540)TAC>CAC	p.Y180H	STT3A_uc009zbm.2_Missense_Mutation_p.Y180H|STT3A_uc001qce.2_Missense_Mutation_p.Y180H|STT3A_uc010sbg.1_Missense_Mutation_p.Y88H|STT3A_uc009zbn.2_5'Flank	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	180	Helical; (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCTACTCACCTACTACATGTG	0.373000												
C11orf45	219833	broad.mit.edu	37	11	128774403	128774403	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:128774403G>A	uc001qeu.2	-	2	253	c.59C>T	c.(58-60)ACG>ATG	p.T20M	KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.T20M|C11orf45_uc001qev.2_Missense_Mutation_p.T20M	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	hypothetical protein LOC219833 precursor	20						extracellular region					0	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		ggcagcgtgcgtccagggcgg	0.144000												
KCNJ5	3762	broad.mit.edu	37	11	128781493	128781493	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:128781493T>C	uc001qet.2	+	2	639	c.325T>C	c.(325-327)TGG>CGG	p.W109R	KCNJ5_uc009zck.2_Missense_Mutation_p.W109R|KCNJ5_uc001qew.2_Missense_Mutation_p.W109R	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	109	Helical; Name=M1; (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTTCATTTGGTGGCTCATTGC	0.522000												
KCNJ5	3762	broad.mit.edu	37	11	128781633	128781633	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:128781633A>G	uc001qet.2	+	2	779	c.465A>G	c.(463-465)CGA>CGG	p.R155R	KCNJ5_uc009zck.2_Silent_p.R155R|KCNJ5_uc001qew.2_Silent_p.R155R	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	155	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATGGCTTCCGAGTCATCACAG	0.517000												
ADAMTS15	170689	broad.mit.edu	37	11	130341187	130341187	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:130341187C>T	uc010scd.1	+	7	1987	c.1987C>T	c.(1987-1989)CTG>TTG	p.L663L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	663	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGATGGGAACCTGGGCTCCAA	0.567000												
SLC6A13	6540	broad.mit.edu	37	12	344273	344273	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:344273G>A	uc001qic.1	-	7	867	c.814C>T	c.(814-816)CGT>TGT	p.R272C	SLC6A13_uc009zdj.1_Missense_Mutation_p.R272C|SLC6A13_uc010sdl.1_Missense_Mutation_p.R180C|SLC6A13_uc010sdm.1_Missense_Mutation_p.R153C	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter	272					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCCACAGACGCGTGAGGTTT	0.567000												
CACNA2D4	93589	broad.mit.edu	37	12	1987496	1987496	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:1987496G>A	uc001qjp.2	-	16	1935	c.1704C>T	c.(1702-1704)CCC>CCT	p.P568P	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.P456P	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	568	Cache.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCCGGAGGTCGGGATGGGAGA	0.488000												
CACNA1C	775	broad.mit.edu	37	12	2786947	2786947	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:2786947A>G	uc009zdu.1	+	43	5462	c.5149A>G	c.(5149-5151)ATC>GTC	p.I1717V	CACNA1C_uc009zdv.1_Missense_Mutation_p.I1666V|CACNA1C_uc001qkb.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkc.2_Missense_Mutation_p.I1688V|CACNA1C_uc001qke.2_Missense_Mutation_p.I1658V|CACNA1C_uc001qkf.2_Missense_Mutation_p.I1677V|CACNA1C_uc001qjz.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkd.2_Missense_Mutation_p.I1688V|CACNA1C_uc001qkg.2_Missense_Mutation_p.I1675V|CACNA1C_uc009zdw.1_Missense_Mutation_p.I1710V|CACNA1C_uc001qkh.2_Missense_Mutation_p.I1677V|CACNA1C_uc001qkl.2_Missense_Mutation_p.I1717V|CACNA1C_uc001qkn.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qko.2_Missense_Mutation_p.I1689V|CACNA1C_uc001qkp.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkr.2_Missense_Mutation_p.I1686V|CACNA1C_uc001qku.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkq.2_Missense_Mutation_p.I1697V|CACNA1C_uc001qks.2_Missense_Mutation_p.I1669V|CACNA1C_uc001qkt.2_Missense_Mutation_p.I1688V|CACNA1C_uc001qki.1_Missense_Mutation_p.I1405V|CACNA1C_uc001qkj.1_Missense_Mutation_p.I1405V|CACNA1C_uc001qkk.1_Missense_Mutation_p.I1405V|CACNA1C_uc001qkm.1_Missense_Mutation_p.I1394V|CACNA1C_uc010sea.1_Missense_Mutation_p.I360V|uc001qkx.1_RNA|CACNA1C_uc001qky.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1717	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)	CCGACGGGCCATCTCTGGAGA	0.597000												
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:3649787T>C	uc001qmf.2	+	2	458	c.91T>C	c.(91-93)TCC>CCC	p.S31P	PRMT8_uc009zed.2_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	31	SH3-binding 1.				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000												
PRMT8	56341	broad.mit.edu	37	12	3701471	3701471	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:3701471G>A	uc001qmf.2	+	9	1421	c.1054G>A	c.(1054-1056)GAG>AAG	p.E352K	PRMT8_uc009zed.2_Missense_Mutation_p.E343K|PRMT8_uc001qmg.2_Missense_Mutation_p.E166K|PRMT8_uc001qmh.2_RNA	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	HMT1 hnRNP methyltransferase-like 4	352					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			ovary(3)|central_nervous_system(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCGGAGGGGGGAGGAAATCTA	0.552000												
KCNA1	3736	broad.mit.edu	37	12	5020592	5020592	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:5020592G>A	uc001qnh.2	+	2	1153	c.48G>A	c.(46-48)CCG>CCA	p.P16P		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	16					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGGCCGCCCCGGGCCACCCCC	0.706000												
KCNA1	3736	broad.mit.edu	37	12	5021140	5021140	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:5021140C>T	uc001qnh.2	+	2	1701	c.596C>T	c.(595-597)ACG>ATG	p.T199M		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	199					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AAGGACTTCACGGGCACCGTC	0.542000												
KCNA1	3736	broad.mit.edu	37	12	5021284	5021284	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:5021284C>T	uc001qnh.2	+	2	1845	c.740C>T	c.(739-741)ACG>ATG	p.T247M		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	247					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCCAGCAAGACGGACTTCTTC	0.498000												
VWF	7450	broad.mit.edu	37	12	6101113	6101113	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6101113C>T	uc001qnn.1	-	38	6920	c.6670G>A	c.(6670-6672)GTG>ATG	p.V2224M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	2224	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CAGGAGCTCACGTTGCCATCA	0.557000												
CHD4	1108	broad.mit.edu	37	12	6701093	6701093	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6701093C>T	uc001qpo.2	-	20	3243	c.3079G>A	c.(3079-3081)GTG>ATG	p.V1027M	CHD4_uc001qpn.2_Missense_Mutation_p.V1020M|CHD4_uc001qpp.2_Missense_Mutation_p.V1024M	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1027					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATTGCAGCCACAGGGAAGAGG	0.473000												
LEPREL2	10536	broad.mit.edu	37	12	6946910	6946910	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6946910C>T	uc001qra.1	+	14	1760	c.1726C>T	c.(1726-1728)CGC>TGC	p.R576C	LEPREL2_uc001qqz.1_Missense_Mutation_p.R383C|LEPREL2_uc001qrb.1_Missense_Mutation_p.R383C|GNB3_uc001qrc.2_5'Flank|GNB3_uc001qrd.2_5'Flank	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	576	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCAAGAGCAGCGCATGGACCT	0.652000												
USP5	8078	broad.mit.edu	37	12	6970756	6970756	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6970756C>A	uc001qri.3	+	13	1707	c.1648C>A	c.(1648-1650)CTG>ATG	p.L550M	USP5_uc001qrh.3_Missense_Mutation_p.L550M	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	550					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4						GAGCACGGCCCTGCAGGCCAA	0.612000												
CD69	969	broad.mit.edu	37	12	9907761	9907761	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:9907761T>C	uc001qwk.2	-	3	365	c.284A>G	c.(283-285)AAA>AGA	p.K95R	CD69_uc010sgu.1_Missense_Mutation_p.K95R|CD69_uc010sgv.1_Missense_Mutation_p.K95R	NM_001781	NP_001772	Q07108	CD69_HUMAN	CD69 molecule	95	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding|transmembrane receptor activity				0						AAAGTAGCATTTCCTCTGGTA	0.453000												
LOH12CR1	118426	broad.mit.edu	37	12	12618642	12618642	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:12618642A>C	uc001ral.2	+	4	889	c.523A>C	c.(523-525)AGC>CGC	p.S175R	LOH12CR1_uc009zhu.2_Missense_Mutation_p.S127R	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	LOH1CR12	175										ovary(1)	1		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CAGGCTCAACAGCATGCTGCC	0.657000												
DDX47	51202	broad.mit.edu	37	12	12976903	12976903	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:12976903C>T	uc001rav.2	+	11	1448	c.850C>T	c.(850-852)CGA>TGA	p.R284*	DDX47_uc009zhw.1_Nonsense_Mutation_p.R284*|DDX47_uc001rax.2_Nonsense_Mutation_p.R284*|DDX47_uc001ray.2_Intron	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	284	Helicase C-terminal.					nucleolus|nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding				0		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTTGCTACTGCGAAATCTTGG	0.443000												
WBP11	51729	broad.mit.edu	37	12	14952595	14952595	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:14952595C>T	uc001rci.2	-	4	325	c.164G>A	c.(163-165)CGA>CAA	p.R55Q		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	55					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						CTCCATGTCTCGGATTATCTG	0.408000												
C12orf72	254013	broad.mit.edu	37	12	31819052	31819052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:31819052G>T	uc009zjr.2	+	3	555	c.346G>T	c.(346-348)GGA>TGA	p.G116*	C12orf72_uc001rkl.2_Nonsense_Mutation_p.G116*|C12orf72_uc001rkm.2_Nonsense_Mutation_p.G116*	NM_001135864	NP_001129336	Q8IXQ9	MET20_HUMAN	hypothetical protein LOC254013	116						cytoplasm	protein methyltransferase activity				0						TGTTGTCAGAGGAAAATCTGT	0.358000												
PKP2	5318	broad.mit.edu	37	12	32945632	32945632	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:32945632G>A	uc001rlj.3	-	13	2638	c.2523C>T	c.(2521-2523)TCC>TCT	p.S841S	PKP2_uc001rlk.3_Silent_p.S797S|PKP2_uc010skj.1_Silent_p.S794S	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	841	ARM 8.				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACAGAAGGACGGAAGCAGCTT	0.473000												
PKP2	5318	broad.mit.edu	37	12	33030914	33030914	+	Silent	SNP	C	C	T	rs140235564		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:33030914C>T	uc001rlj.3	-	3	1015	c.900G>A	c.(898-900)ACG>ACA	p.T300T	PKP2_uc001rlk.3_Silent_p.T300T|PKP2_uc010skj.1_Silent_p.T300T	NM_004572	NP_004563	Q99959	PKP2_HUMAN	plakophilin 2 isoform 2b	300					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			ovary(1)|pancreas(1)	2	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTTCCCTCAGCGTGCGGGTGC	0.672000												
SLC48A1	55652	broad.mit.edu	37	12	48174056	48174056	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:48174056G>A	uc001rqd.2	+	3	554	c.433G>A	c.(433-435)GAT>AAT	p.D145N	SLC48A1_uc001rqc.2_RNA	NM_017842	NP_060312	Q6P1K1	HRG1_HUMAN	heme-responsive gene 1	145					transport	endosome membrane|integral to membrane|lysosomal membrane					0						CATCCTCAGCGATTTCTGACC	0.607000												
C12orf68	387856	broad.mit.edu	37	12	48578233	48578233	+	Missense_Mutation	SNP	A	A	G	rs146722647	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:48578233A>G	uc001rrj.2	+	1	868	c.328A>G	c.(328-330)AGC>GGC	p.S110G		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	hypothetical protein LOC387856	110						cytoplasm				central_nervous_system(1)	1						CGGCAAGGGGAGCTTCCAGAG	0.607000												
ADCY6	112	broad.mit.edu	37	12	49170050	49170050	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49170050G>T	uc001rsh.3	-	7	2279	c.1619C>A	c.(1618-1620)GCG>GAG	p.A540E	ADCY6_uc001rsj.3_Missense_Mutation_p.A540E|ADCY6_uc001rsi.3_Missense_Mutation_p.A540E|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	540	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CTTGAGGTACGCGTTGCGCTC	0.632000												
CCDC65	85478	broad.mit.edu	37	12	49312165	49312165	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49312165T>C	uc001rso.2	+	5	944	c.717T>C	c.(715-717)GAT>GAC	p.D239D		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	239										ovary(1)|skin(1)	2						CCACAGAGGATCGAAAGGCTG	0.433000												
MLL2	8085	broad.mit.edu	37	12	49426313	49426313	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49426313C>T	uc001rta.3	-	39	12175	c.12175G>A	c.(12175-12177)GCC>ACC	p.A4059T		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4059	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGTTCAGTGGCCATTGACTCA	0.488000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
SPATS2	65244	broad.mit.edu	37	12	49883337	49883337	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49883337A>G	uc001rud.2	+	5	1184	c.195A>G	c.(193-195)ACA>ACG	p.T65T	SPATS2_uc001rue.2_RNA|SPATS2_uc009zli.1_Silent_p.T65T|SPATS2_uc001ruf.2_Silent_p.T65T|SPATS2_uc001rug.2_Silent_p.T65T	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	65						cytoplasm				breast(1)	1						TGGACAAAACAGTACAAGCAT	0.318000												
FAM186B	84070	broad.mit.edu	37	12	49993393	49993393	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:49993393C>T	uc001ruo.2	-	4	2203	c.2030G>A	c.(2029-2031)AGT>AAT	p.S677N	FAM186B_uc010smk.1_Missense_Mutation_p.S587N	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	hypothetical protein LOC84070	677						protein complex				ovary(1)	1						AGACTCCTCACTCAGGAGCTG	0.577000												
LETMD1	25875	broad.mit.edu	37	12	51442948	51442948	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:51442948T>C	uc001rxm.2	+	2	310	c.254T>C	c.(253-255)CTG>CCG	p.L85P	LETMD1_uc010smz.1_Missense_Mutation_p.L85P|LETMD1_uc010sna.1_Missense_Mutation_p.L85P|LETMD1_uc001rxl.2_Missense_Mutation_p.L29P|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Missense_Mutation_p.L85P|LETMD1_uc009zlw.2_Missense_Mutation_p.L85P|LETMD1_uc001rxn.2_5'UTR|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Missense_Mutation_p.L85P|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_5'UTR	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1 isoform 1	85	Cytoplasmic (Potential).|LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)	2						TTCTATGTCCTGTACACAATC	0.398000												
TFCP2	7024	broad.mit.edu	37	12	51566196	51566196	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:51566196C>T	uc001rxw.2	-	1	469	c.10G>A	c.(10-12)GCT>ACT	p.A4T	TFCP2_uc001rxv.1_Missense_Mutation_p.A4T|TFCP2_uc009zlx.1_Missense_Mutation_p.A4T|TFCP2_uc001rxx.2_Missense_Mutation_p.A4T|TFCP2_uc009zly.1_Intron	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	transcription factor CP2	4					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AGCTTCAGAGCCCAGGCCATC	0.577000												
BIN2	51411	broad.mit.edu	37	12	51686058	51686058	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:51686058G>A	uc001ryg.2	-	10	884	c.832C>T	c.(832-834)CCT>TCT	p.P278S	BIN2_uc009zlz.2_Missense_Mutation_p.P246S|BIN2_uc001ryh.2_Missense_Mutation_p.P154S|BIN2_uc010sng.1_Missense_Mutation_p.P252S	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	278						cytoplasm	protein binding			ovary(1)	1						GGACTAGTAGGTGAGGTAAGA	0.483000												
ANKRD33	341405	broad.mit.edu	37	12	52282939	52282939	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:52282939A>C	uc001rzf.3	+	3	659	c.80A>C	c.(79-81)GAC>GCC	p.D27A	ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.D162A|ANKRD33_uc001rze.2_Missense_Mutation_p.D27A|ANKRD33_uc001rzg.3_Intron|ANKRD33_uc001rzi.3_Missense_Mutation_p.D27A	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33 isoform 1	27											0				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACCAGCAGGACAAAGGAGGG	0.612000												
CSAD	51380	broad.mit.edu	37	12	53554063	53554063	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:53554063A>C	uc001sby.2	-	13	1133	c.1007T>G	c.(1006-1008)CTT>CGT	p.L336R	CSAD_uc001sbw.2_Missense_Mutation_p.L189R|CSAD_uc009zmt.2_Missense_Mutation_p.L118R|CSAD_uc010snx.1_Missense_Mutation_p.L363R|CSAD_uc001sbz.2_Missense_Mutation_p.L336R|CSAD_uc009zmu.2_Missense_Mutation_p.L189R|CSAD_uc001sca.3_RNA	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	336					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CTGCTGGAAAAGGTAGCTGGC	0.602000									Hereditary_Prostate_Cancer			
MAP3K12	7786	broad.mit.edu	37	12	53878989	53878989	+	Silent	SNP	G	G	A	rs142538656		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:53878989G>A	uc001sdm.1	-	7	989	c.891C>T	c.(889-891)GGC>GGT	p.G297G	MAP3K12_uc001sdn.1_Silent_p.G330G	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	297	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5						ATAGCACCACGCCAAAGGACC	0.557000												
HOXC10	3226	broad.mit.edu	37	12	54379554	54379554	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54379554G>A	uc001sen.2	+	1	609	c.511G>A	c.(511-513)GAA>AAA	p.E171K		NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN	homeobox C10	171					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1						CAACGACTTCGAAGCCCCTTT	0.652000												
HOXC5	3222	broad.mit.edu	37	12	54426994	54426994	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54426994G>A	uc001sew.2	+	1	163	c.88G>A	c.(88-90)GCC>ACC	p.A30T	HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	30					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CTATGGATCGGCCTCAGAGGT	0.547000												
HOXC4	3221	broad.mit.edu	37	12	54448771	54448771	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54448771C>T	uc001seu.2	+	4	1257	c.577C>T	c.(577-579)CTG>TTG	p.L193L	HOXC4_uc001sex.2_Silent_p.L193L	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	193	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCCCACTCGCTGTGCCTCTC	0.527000												
NCKAP1L	3071	broad.mit.edu	37	12	54893228	54893228	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:54893228C>T	uc001sgc.3	+	2	271	c.192C>T	c.(190-192)AAC>AAT	p.N64N	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.N14N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	64					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						AATTTCCCAACATAGATGTCC	0.423000												
OR6C65	403282	broad.mit.edu	37	12	55795200	55795200	+	Silent	SNP	A	A	G	rs143868119		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:55795200A>G	uc010spl.1	+	1	888	c.888A>G	c.(886-888)AAA>AAG	p.K296K		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	296	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCAGGTGAAACAGGCCCTTA	0.358000												
RAB5B	5869	broad.mit.edu	37	12	56384490	56384490	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56384490T>C	uc001siv.2	+	4	457	c.340T>C	c.(340-342)TGG>CGG	p.W114R	RAB5B_uc001siw.2_Missense_Mutation_p.W114R|RAB5B_uc009zog.2_Missense_Mutation_p.W54R|RAB5B_uc010spz.1_Intron	NM_002868	NP_002859	P61020	RAB5B_HUMAN	RAB5B, member RAS oncogene family	114					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AGCAAAGACATGGGTGAAGGA	0.473000												
IKZF4	64375	broad.mit.edu	37	12	56428548	56428548	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56428548T>C	uc001sjb.1	+	9	1350	c.1191T>C	c.(1189-1191)CCT>CCC	p.P397P	IKZF4_uc010sqa.1_Silent_p.P350P|IKZF4_uc001sjc.1_Silent_p.P397P|IKZF4_uc001sjd.1_Silent_p.P295P|IKZF4_uc009zoi.1_Silent_p.P352P|IKZF4_uc001sje.1_Silent_p.P356P	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	397					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACTCACGCCTGTCATCAGCT	0.602000												
PAN2	9924	broad.mit.edu	37	12	56722284	56722284	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56722284G>A	uc001skx.2	-	3	797	c.424C>T	c.(424-426)CGT>TGT	p.R142C	PAN2_uc001skz.2_Missense_Mutation_p.R142C|PAN2_uc001sky.2_Missense_Mutation_p.R142C	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 polyA specific ribonuclease subunit homolog	142					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						AGGCCCCCACGGGCCATATAC	0.488000												
MIP	4284	broad.mit.edu	37	12	56845068	56845068	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56845068A>C	uc001slh.2	-	4	820	c.788T>G	c.(787-789)CTG>CGG	p.L263R	TIMELESS_uc001slf.2_5'Flank|TIMELESS_uc001slg.2_5'Flank	NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	263	Cytoplasmic (By similarity).				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						GAGCTTCTACAGGGCCTGGGT	0.522000												
MIP	4284	broad.mit.edu	37	12	56848194	56848194	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56848194A>C	uc001slh.2	-	1	236	c.204T>G	c.(202-204)AAT>AAG	p.N68K		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	68	NPA 1.				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						TGACTGCAGGATTGACGTGGG	0.607000												
SHMT2	6472	broad.mit.edu	37	12	57628071	57628071	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:57628071G>A	uc001snf.1	+	12	1452	c.1442G>A	c.(1441-1443)CGT>CAT	p.R481H	SHMT2_uc001sng.1_Missense_Mutation_p.R377H|SHMT2_uc001snh.1_Missense_Mutation_p.R320H|SHMT2_uc009zpk.1_Missense_Mutation_p.R471H|SHMT2_uc001sni.1_Missense_Mutation_p.R460H|SHMT2_uc010srg.1_Missense_Mutation_p.R490H|SHMT2_uc001snj.1_Missense_Mutation_p.R385H|SHMT2_uc010srh.1_Missense_Mutation_p.R460H|SHMT2_uc001snk.1_Missense_Mutation_p.R385H|SHMT2_uc010sri.1_Missense_Mutation_p.R460H|SHMT2_uc001snl.2_Missense_Mutation_p.R385H|SHMT2_uc010srj.1_Missense_Mutation_p.R136H	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	481						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACAAGTCAGCGTCTGGCCAAC	0.537000												
USP15	9958	broad.mit.edu	37	12	62785090	62785090	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:62785090C>T	uc001src.1	+	16	2123	c.2114C>T	c.(2113-2115)ACG>ATG	p.T705M	USP15_uc001srb.1_Missense_Mutation_p.T676M	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	705					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)	3			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGTCAACTCACGGGACACAAA	0.368000												
XPOT	11260	broad.mit.edu	37	12	64813965	64813965	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:64813965C>T	uc001ssb.2	+	7	1031	c.605C>T	c.(604-606)ACG>ATG	p.T202M	XPOT_uc009zqm.1_Missense_Mutation_p.T112M	NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	202	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		TCTGAAGTGACGTGTCAGTGC	0.353000												
XPOT	11260	broad.mit.edu	37	12	64819119	64819119	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:64819119T>C	uc001ssb.2	+	14	1880	c.1454T>C	c.(1453-1455)CTG>CCG	p.L485P		NM_007235	NP_009166	O43592	XPOT_HUMAN	tRNA exportin	485	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(28;0.0404)		CTGATCTAGCTGGTAACATCA	0.373000												
LEMD3	23592	broad.mit.edu	37	12	65633992	65633992	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:65633992C>T	uc001ssl.1	+	8	2106	c.2100C>T	c.(2098-2100)CGC>CGT	p.R700R	LEMD3_uc009zqo.1_Silent_p.R699R	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	700	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CACATGTACGCGATTCCTTAA	0.318000												
DYRK2	8445	broad.mit.edu	37	12	68050922	68050922	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:68050922C>T	uc001str.3	+	3	637	c.235C>T	c.(235-237)CAT>TAT	p.H79Y	DYRK2_uc001sts.3_Missense_Mutation_p.H6Y	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	79					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGATCACCTGCATGTCGGCAG	0.448000												
NUP107	57122	broad.mit.edu	37	12	69085852	69085852	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:69085852C>A	uc001suf.2	+	5	523	c.408C>A	c.(406-408)ATC>ATA	p.I136I	NUP107_uc001sug.2_Intron|NUP107_uc010stj.1_Silent_p.I107I	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	136					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGTAACTATCAGTGCTGTTA	0.443000												
NUP107	57122	broad.mit.edu	37	12	69107564	69107564	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:69107564T>C	uc001suf.2	+	11	1060	c.945T>C	c.(943-945)AGT>AGC	p.S315S	NUP107_uc001sug.2_Silent_p.S162S|NUP107_uc010stj.1_Silent_p.S286S	NM_020401	NP_065134	P57740	NU107_HUMAN	nucleoporin 107kDa	315					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			skin(1)	1	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACGTTGGAAGTGTTCGTCCGC	0.333000												
RAB3IP	117177	broad.mit.edu	37	12	70150428	70150428	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:70150428C>T	uc001svp.2	+	3	990	c.543C>T	c.(541-543)CTC>CTT	p.L181L	RAB3IP_uc001svl.1_Silent_p.L165L|RAB3IP_uc001svm.2_Silent_p.L165L|RAB3IP_uc001svn.2_Silent_p.L165L|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Silent_p.L181L|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein isoform alpha 2	181	Potential.				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGAAGAACTCGCAAAAGCTC	0.363000												
TRHDE	29953	broad.mit.edu	37	12	72680485	72680485	+	Silent	SNP	G	G	A	rs143921572	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:72680485G>A	uc001sxa.2	+	2	834	c.804G>A	c.(802-804)TCG>TCA	p.S268S		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	268	Extracellular (Potential).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(2)|skin(1)	3						CTCAGTTTTCGCCTACACATG	0.358000												
KCNC2	3747	broad.mit.edu	37	12	75601576	75601576	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:75601576G>A	uc001sxg.1	-	2	732	c.188C>T	c.(187-189)CCG>CTG	p.P63L	KCNC2_uc009zry.2_Missense_Mutation_p.P63L|KCNC2_uc001sxe.2_Missense_Mutation_p.P63L|KCNC2_uc001sxf.2_Missense_Mutation_p.P63L|KCNC2_uc010stw.1_Missense_Mutation_p.P63L	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	63	Gly/Pro-rich (insert).|Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						tctcggcggcggcgacagtgg	0.527000												
NAV3	89795	broad.mit.edu	37	12	78542637	78542637	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:78542637C>T	uc001syp.2	+	22	4896	c.4723C>T	c.(4723-4725)CGG>TGG	p.R1575W	NAV3_uc001syo.2_Missense_Mutation_p.R1575W|NAV3_uc010sub.1_Missense_Mutation_p.R1061W|NAV3_uc009zsf.2_Missense_Mutation_p.R406W	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1575	Potential.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CCATAAACTGCGGAGAGAGCT	0.333000										HNSCC(70;0.22)		
MYF6	4618	broad.mit.edu	37	12	81101720	81101720	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:81101720C>T	uc001szf.1	+	1	275	c.222C>T	c.(220-222)CCC>CCT	p.P74P		NM_002469	NP_002460	P23409	MYF6_HUMAN	myogenic factor 6	74					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1						CACACTGCCCCGGCCAGTGTC	0.652000												
C12orf26	84190	broad.mit.edu	37	12	82871071	82871071	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:82871071A>G	uc001szq.2	+	11	1680	c.1659A>G	c.(1657-1659)GTA>GTG	p.V553V		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	hypothetical protein LOC84190	553											0						TGAAAGTTGTACTGGCTCCCT	0.279000												
SLC6A15	55117	broad.mit.edu	37	12	85264343	85264343	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:85264343A>G	uc001szv.2	-	9	1902	c.1409T>C	c.(1408-1410)CTA>CCA	p.L470P	SLC6A15_uc010sul.1_Missense_Mutation_p.L363P|SLC6A15_uc001szw.1_Missense_Mutation_p.L178P	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	470	Helical; Name=8; (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						GCCAAGGCCTAGATTGACCAG	0.438000												
LRRIQ1	84125	broad.mit.edu	37	12	85441050	85441050	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:85441050C>T	uc001tac.2	+	6	591	c.480C>T	c.(478-480)TAC>TAT	p.Y160Y	LRRIQ1_uc001tab.1_Silent_p.Y160Y|LRRIQ1_uc001taa.1_Silent_p.Y160Y|LRRIQ1_uc001tad.2_Silent_p.Y68Y	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	160										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		ATTTTGGATACTGTGAAGTGG	0.328000												
MGAT4C	25834	broad.mit.edu	37	12	86373627	86373627	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:86373627G>A	uc001tai.3	-	8	2127	c.877C>T	c.(877-879)CGT>TGT	p.R293C	MGAT4C_uc001tal.3_Missense_Mutation_p.R293C|MGAT4C_uc001taj.3_Missense_Mutation_p.R293C|MGAT4C_uc001tak.3_Missense_Mutation_p.R293C|MGAT4C_uc010sum.1_Missense_Mutation_p.R317C|MGAT4C_uc001tah.3_Missense_Mutation_p.R293C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	293	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AACAGACCACGGAAATGAGTC	0.383000												
MGAT4C	25834	broad.mit.edu	37	12	86373679	86373679	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:86373679A>C	uc001tai.3	-	8	2075	c.825T>G	c.(823-825)TTT>TTG	p.F275L	MGAT4C_uc001tal.3_Missense_Mutation_p.F275L|MGAT4C_uc001taj.3_Missense_Mutation_p.F275L|MGAT4C_uc001tak.3_Missense_Mutation_p.F275L|MGAT4C_uc010sum.1_Missense_Mutation_p.F299L|MGAT4C_uc001tah.3_Missense_Mutation_p.F275L	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	275	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						ACATTAATAAAAAATGGGCCA	0.388000												
CEP290	80184	broad.mit.edu	37	12	88478553	88478553	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:88478553A>G	uc001tar.2	-	35	4858	c.4514T>C	c.(4513-4515)CTG>CCG	p.L1505P	CEP290_uc001taq.2_Missense_Mutation_p.L565P	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1505					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						TCGAAGCCTCAGTTCATTGAT	0.358000												
TMCC3	57458	broad.mit.edu	37	12	94975970	94975970	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:94975970T>G	uc001tdj.2	-	2	541	c.423A>C	c.(421-423)AGA>AGC	p.R141S	TMCC3_uc001tdi.2_Missense_Mutation_p.R110S	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	141	Potential.					integral to membrane				ovary(1)|skin(1)	2						GCTCGATCTCTCTGAGCTTTC	0.468000												
METAP2	10988	broad.mit.edu	37	12	95887859	95887859	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:95887859T>C	uc001tec.2	+	5	590	c.456T>C	c.(454-456)AGT>AGC	p.S152S	METAP2_uc010suv.1_Silent_p.S129S|METAP2_uc009ztd.2_Silent_p.S116S|METAP2_uc001ted.2_Silent_p.S151S|METAP2_uc001tef.2_Silent_p.S129S|METAP2_uc001tee.2_RNA	NM_006838	NP_006829	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	152					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0					L-Methionine(DB00134)	GAACTACAAGTGAAGAAAAGA	0.383000												
NR1H4	9971	broad.mit.edu	37	12	100928723	100928723	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:100928723G>A	uc001tht.1	+	4	712	c.684G>A	c.(682-684)CAG>CAA	p.Q228Q	NR1H4_uc001thp.1_Silent_p.Q214Q|NR1H4_uc001thq.1_Silent_p.Q218Q|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.Q218Q|NR1H4_uc010svk.1_Silent_p.Q167Q|NR1H4_uc001ths.1_Silent_p.Q224Q	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	228					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						ATGTGAAGCAGCATGCAGATC	0.403000												
UTP20	27340	broad.mit.edu	37	12	101736730	101736730	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:101736730C>T	uc001tia.1	+	35	4464	c.4308C>T	c.(4306-4308)TTC>TTT	p.F1436F		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	1436					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4						TTAACGCCTTCGATCAAAGAC	0.328000												
STAB2	55576	broad.mit.edu	37	12	104071330	104071330	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:104071330C>T	uc001tjw.2	+	25	2932	c.2746C>T	c.(2746-2748)CTG>TTG	p.L916L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	916	Extracellular (Potential).|EGF-like 9.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CAACTGCCTGCTGCCCAGTGC	0.577000												
HCFC2	29915	broad.mit.edu	37	12	104480794	104480794	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:104480794T>C	uc001tkj.3	+	8	1334	c.1231_splice	c.e8+2	p.G411_splice	HCFC2_uc009zul.2_Splice_Site	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			ovary(2)|central_nervous_system(1)	3						ATATGCAAGGTAACATAATTT	0.289000												
POLR3B	55703	broad.mit.edu	37	12	106897881	106897881	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:106897881C>T	uc001tlp.2	+	27	3343	c.3121C>T	c.(3121-3123)CGT>TGT	p.R1041C	POLR3B_uc001tlq.2_Missense_Mutation_p.R983C	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	1041					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						AGGACGGTCTCGTGATGGTGG	0.353000												
FICD	11153	broad.mit.edu	37	12	108913186	108913186	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:108913186G>A	uc001tmx.1	+	3	1457	c.1311G>A	c.(1309-1311)TCG>TCA	p.S437S		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Huntingtin interacting protein E	437					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity				0						CTGAGTACTCGGTGGCACTGC	0.552000												
ACACB	32	broad.mit.edu	37	12	109702080	109702080	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:109702080C>T	uc001tob.2	+	50	6950	c.6831C>T	c.(6829-6831)GGC>GGT	p.G2277G	ACACB_uc001toc.2_Silent_p.G2277G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.G943G	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	2277	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACCTGGAGGGCCGGCTAAAGG	0.612000											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CCDC63	160762	broad.mit.edu	37	12	111336860	111336860	+	Missense_Mutation	SNP	G	G	A	rs148044780		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:111336860G>A	uc001trv.1	+	10	1468	c.1273G>A	c.(1273-1275)GCC>ACC	p.A425T	CCDC63_uc010sye.1_Missense_Mutation_p.A385T|CCDC63_uc001trw.1_Missense_Mutation_p.A340T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	425										skin(6)|ovary(1)|pancreas(1)	8						AAACTGTGACGCCACCAAGAT	0.498000												
TRAFD1	10906	broad.mit.edu	37	12	112578723	112578723	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:112578723C>T	uc001ttp.2	+	5	424	c.338C>T	c.(337-339)ACG>ATG	p.T113M	TRAFD1_uc001tto.2_Missense_Mutation_p.T113M|TRAFD1_uc009zwb.2_Missense_Mutation_p.T113M|TRAFD1_uc010syj.1_RNA	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	113					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0						GGTGCCCGGACGGAACTATGT	0.483000												
C12orf51	283450	broad.mit.edu	37	12	112690240	112690240	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:112690240T>C	uc009zwc.2	-	16	2292	c.2274A>G	c.(2272-2274)ACA>ACG	p.T758T	C12orf51_uc010syk.1_Silent_p.T580T|C12orf51_uc001tts.2_Silent_p.T571T|C12orf51_uc001ttt.3_Silent_p.T569T	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						GAGCGCGAACTGTGCAAGCAA	0.453000												
MED13L	23389	broad.mit.edu	37	12	116453016	116453016	+	Missense_Mutation	SNP	G	G	A	rs139163900		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:116453016G>A	uc001tvw.2	-	8	1128	c.1073C>T	c.(1072-1074)ACG>ATG	p.T358M		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	358					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGTGCATCGTTATCATCCC	0.468000												
RNF10	9921	broad.mit.edu	37	12	121013635	121013635	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:121013635C>T	uc001typ.3	+	16	2724	c.2241C>T	c.(2239-2241)GAC>GAT	p.D747D	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Silent_p.D658D	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	747					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGACAGCGACGGGGAGAGTG	0.428000												
KDM2B	84678	broad.mit.edu	37	12	121879010	121879010	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:121879010C>T	uc001uat.2	-	20	3415	c.3311G>A	c.(3310-3312)CGC>CAC	p.R1104H	KDM2B_uc001uaq.2_Missense_Mutation_p.R544H|KDM2B_uc010szy.1_Missense_Mutation_p.R544H|KDM2B_uc001uar.2_Missense_Mutation_p.R695H|KDM2B_uc001uas.2_Missense_Mutation_p.R1035H|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R352H|KDM2B_uc010szx.1_Missense_Mutation_p.R352H|KDM2B_uc001uap.2_RNA	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	1104	LRR 1.|F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						CAGGTCAATGCGGGTCCACAA	0.607000												
WDR66	144406	broad.mit.edu	37	12	122396951	122396951	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:122396951G>A	uc009zxk.2	+	13	2226	c.2084G>A	c.(2083-2085)AGT>AAT	p.S695N		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	695	WD 8.						calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCCAGAACCAGTGTGACTCAT	0.413000												
GPR81	27198	broad.mit.edu	37	12	123213848	123213848	+	Nonstop_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:123213848A>G	uc001ucz.2	-	1	1282	c.1039T>C	c.(1039-1041)TGA>CGA	p.*347R	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	347					response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTGCTTGTTCAGTGCCACTCA	0.498000												
PITPNM2	57605	broad.mit.edu	37	12	123471070	123471070	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:123471070G>A	uc001uej.1	-	24	3778	c.3639C>T	c.(3637-3639)GAC>GAT	p.D1213D	PITPNM2_uc001uek.1_Silent_p.D1207D	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1213					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ACACCGCCACGTCCTTGGTGG	0.667000												
DNAH10	196385	broad.mit.edu	37	12	124414281	124414281	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:124414281G>A	uc001uft.3	+	71	12258	c.12233G>A	c.(12232-12234)GGC>GAC	p.G4078D	DNAH10_uc001ufu.3_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4078	TPR 5.				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATCCCGTGGGGCAGCCTCAAG	0.547000												
ZNF664	144348	broad.mit.edu	37	12	124497439	124497439	+	Missense_Mutation	SNP	A	A	G	rs142961134	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:124497439A>G	uc001ufz.2	+	6	2578	c.748A>G	c.(748-750)ACA>GCA	p.T250A	ZNF664_uc001uga.2_Missense_Mutation_p.T250A|ZNF664_uc001ugb.2_Missense_Mutation_p.T250A	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	zinc finger protein 664	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAGAGTCCACACAAAGGAGAG	0.433000												
EP400	57634	broad.mit.edu	37	12	132508398	132508398	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132508398G>A	uc001ujn.2	+	23	4802	c.4767G>A	c.(4765-4767)CCG>CCA	p.P1589P	EP400_uc001ujl.2_Silent_p.P1588P|EP400_uc001ujm.2_Silent_p.P1508P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1625					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGAGACGCCGGTGACACTGC	0.587000												
EP400	57634	broad.mit.edu	37	12	132551914	132551914	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132551914C>A	uc001ujn.2	+	49	8792	c.8757C>A	c.(8755-8757)ACC>ACA	p.T2919T	EP400_uc001ujl.2_Silent_p.T2918T|EP400_uc001ujm.2_Silent_p.T2838T|EP400_uc001ujp.2_Silent_p.T129T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2955					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGACAGACCGTGGTGGCCC	0.612000												
NOC4L	79050	broad.mit.edu	37	12	132632470	132632470	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132632470G>A	uc001ujz.1	+	6	690	c.649G>A	c.(649-651)GTG>ATG	p.V217M		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	217					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GCTGTCTGCCGTGAGCCTGCC	0.687000												
NOC4L	79050	broad.mit.edu	37	12	132633428	132633428	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:132633428G>A	uc001ujz.1	+	9	930	c.889G>A	c.(889-891)GCC>ACC	p.A297T		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	297	Helical; (Potential).				rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTCACCCGCGCCTGCGACCT	0.657000												
TUBA3C	7278	broad.mit.edu	37	13	19753647	19753647	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:19753647G>A	uc009zzj.2	-	2	109	c.60C>T	c.(58-60)TGC>TGT	p.C20C		NM_006001	NP_005992	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	20					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)|skin(2)	5		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ACAGTTCCCAGCAGGCATTGC	0.502000												
MPHOSPH8	54737	broad.mit.edu	37	13	20235961	20235961	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:20235961A>G	uc001umh.2	+	8	1924	c.1915A>G	c.(1915-1917)ATT>GTT	p.I639V	MPHOSPH8_uc001umg.2_Missense_Mutation_p.I639V	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	639	ANK 2.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CACCGCCCTCATTCATGCTGC	0.542000												
ZMYM2	7750	broad.mit.edu	37	13	20608520	20608520	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:20608520G>A	uc001umr.2	+	12	2393	c.2095G>A	c.(2095-2097)GTT>ATT	p.V699I	ZMYM2_uc001ums.2_Missense_Mutation_p.V699I|ZMYM2_uc001umt.2_Missense_Mutation_p.V699I|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.V79I|ZMYM2_uc001umw.2_Missense_Mutation_p.V152I	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTTCTCTGGCGTTAAGAGACC	0.328000												
PABPC3	5042	broad.mit.edu	37	13	25671157	25671157	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:25671157C>T	uc001upy.2	+	1	882	c.821C>T	c.(820-822)ACG>ATG	p.T274M		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	274					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GAACGGCAGACGGAACTTAAG	0.393000												
GPR12	2835	broad.mit.edu	37	13	27333504	27333504	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:27333504A>G	uc010aal.2	-	2	683	c.461T>C	c.(460-462)GTC>GCC	p.V154A	GPR12_uc010tdl.1_5'UTR	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	154	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGTAAACGTGACCGTCCTCTC	0.587000												
PAN3	255967	broad.mit.edu	37	13	28834624	28834624	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:28834624A>G	uc001urz.2	+	7	859	c.851A>G	c.(850-852)CAC>CGC	p.H284R	PAN3_uc010tdo.1_Missense_Mutation_p.H430R|PAN3_uc001ury.2_Missense_Mutation_p.H118R|PAN3_uc001urx.2_Missense_Mutation_p.H230R	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	PABP1-dependent poly A-specific ribonuclease	430	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			ovary(1)	1	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		ACTGCACCTCACGTTGCTTAT	0.358000												
FLT1	2321	broad.mit.edu	37	13	28877304	28877304	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:28877304C>T	uc001usb.3	-	30	4302	c.4017G>A	c.(4015-4017)TAG>TAA	p.*1339*	FLT1_uc010aap.2_Silent_p.*344*|FLT1_uc010aaq.2_Silent_p.*464*|FLT1_uc001usa.3_Silent_p.*557*	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	1339					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGTCAAACTCTAGATGGGTG	0.478000												
B3GALTL	145173	broad.mit.edu	37	13	31850906	31850906	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:31850906G>A	uc010aaz.2	+	10	958	c.848G>A	c.(847-849)AGA>AAA	p.R283K	B3GALTL_uc001utn.3_RNA	NM_194318	NP_919299	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	283	Lumenal (Potential).				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CATGGTGACAGAAGTATGTTT	0.303000												
BRCA2	675	broad.mit.edu	37	13	32972674	32972674	+	Missense_Mutation	SNP	G	G	A	rs28897761		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:32972674G>A	uc001uub.1	+	27	10251	c.10024G>A	c.(10024-10026)GAA>AAA	p.E3342K		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3342					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATAGCTGACGAAGAACTTGC	0.358000			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
NBEA	26960	broad.mit.edu	37	13	35733215	35733215	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:35733215G>T	uc001uvb.2	+	23	3113	c.2907G>T	c.(2905-2907)GAG>GAT	p.E969D	NBEA_uc010abi.2_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	969						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAGACAAGAGGAGGAAAACA	0.373000												
MAB21L1	4081	broad.mit.edu	37	13	36049335	36049335	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36049335C>A	uc001uvc.2	-	1	1498	c.941G>T	c.(940-942)CGG>CTG	p.R314L	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	314					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGGACACCGCCGGCACTGCAG	0.542000												
DCLK1	9201	broad.mit.edu	37	13	36686184	36686184	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36686184A>G	uc001uvf.2	-	3	778	c.545T>C	c.(544-546)TTC>TCC	p.F182S		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	182					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGGCCGAATGAAATCCTTATT	0.532000												
SPG20	23111	broad.mit.edu	37	13	36909285	36909285	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36909285A>G	uc001uvn.2	-	3	953	c.683T>C	c.(682-684)GTA>GCA	p.V228A	SPG20_uc010ten.1_Missense_Mutation_p.V228A|SPG20_uc001uvm.2_Missense_Mutation_p.V228A|SPG20_uc001uvo.2_Missense_Mutation_p.V228A|SPG20_uc001uvq.2_Missense_Mutation_p.V228A|SPG20_uc001uvp.2_Missense_Mutation_p.V228A	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	228					cell death	cytoplasm	ubiquitin protein ligase binding				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AAAAATCTGTACTCCATTTGG	0.428000												
COG6	57511	broad.mit.edu	37	13	40229900	40229900	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:40229900G>A	uc001uxh.2	+	1	137	c.37G>A	c.(37-39)GCG>ACG	p.A13T	COG6_uc001uxi.2_5'UTR|COG6_uc010acb.2_Missense_Mutation_p.A13T	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	13					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CGCAGTGTCTGCGACCGGGGC	0.701000												
KIAA0564	23078	broad.mit.edu	37	13	42465631	42465631	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42465631C>T	uc001uyj.2	-	5	646	c.576G>A	c.(574-576)TTG>TTA	p.L192L	KIAA0564_uc001uyk.2_Silent_p.L192L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	192						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGTTTTCCAGCAAGTTGTTCA	0.448000												
DGKH	160851	broad.mit.edu	37	13	42734149	42734149	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42734149C>T	uc001uyl.1	+	7	753	c.732C>T	c.(730-732)GTC>GTT	p.V244V	DGKH_uc010tfh.1_Silent_p.V244V|DGKH_uc001uym.1_Silent_p.V244V|DGKH_uc010tfi.1_Intron|DGKH_uc010tfj.1_Silent_p.V99V|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.V99V|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	244					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTCCACAGGTCGCGATGCCTC	0.537000												
DGKH	160851	broad.mit.edu	37	13	42773797	42773797	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42773797A>G	uc001uyl.1	+	19	2402	c.2381A>G	c.(2380-2382)CAC>CGC	p.H794R	DGKH_uc010tfh.1_Missense_Mutation_p.H794R|DGKH_uc001uym.1_Missense_Mutation_p.H794R|DGKH_uc010tfi.1_Missense_Mutation_p.H549R|DGKH_uc010tfj.1_Missense_Mutation_p.H649R|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.H649R|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	794					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGAGAGGAGCACCCTGAAAAA	0.284000												
KPNA3	3839	broad.mit.edu	37	13	50306762	50306762	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:50306762A>G	uc001vdj.2	-	5	681	c.266T>C	c.(265-267)TTG>TCG	p.L89S		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	89	ARM 1; truncated.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GACAGCACTCAATTGGACCAC	0.343000												
FAM124A	220108	broad.mit.edu	37	13	51825756	51825756	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:51825756C>T	uc001vfg.1	+	3	384	c.253C>T	c.(253-255)CGG>TGG	p.R85W	FAM124A_uc001vfe.2_Missense_Mutation_p.R85W|FAM124A_uc001vff.1_Missense_Mutation_p.R121W	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	85										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GTCCGAGAGGCGGGCGTCCCG	0.697000												
THSD1	55901	broad.mit.edu	37	13	52952547	52952547	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:52952547C>T	uc001vgo.2	-	5	2103	c.1558G>A	c.(1558-1560)GCC>ACC	p.A520T	THSD1_uc001vgp.2_Missense_Mutation_p.A467T|THSD1_uc010tgz.1_Missense_Mutation_p.A141T|THSD1_uc010aea.2_5'UTR	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	520	Cytoplasmic (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATCTTCTGGGCGTTGGACTGG	0.567000												
PCDH8	5100	broad.mit.edu	37	13	53420246	53420246	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:53420246G>A	uc001vhi.2	-	1	2529	c.2326C>T	c.(2326-2328)CGC>TGC	p.R776C	PCDH8_uc001vhj.2_Missense_Mutation_p.R776C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	776	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCTTGCGGCGGTTGCAGGTG	0.617000												
PCDH8	5100	broad.mit.edu	37	13	53420426	53420426	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:53420426G>A	uc001vhi.2	-	1	2349	c.2146C>T	c.(2146-2148)CGT>TGT	p.R716C	PCDH8_uc001vhj.2_Missense_Mutation_p.R716C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	716	Extracellular (Potential).|Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCGGCCCACGCCCGCCCCCT	0.721000												
PCDH17	27253	broad.mit.edu	37	13	58208859	58208859	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:58208859G>A	uc001vhq.1	+	1	3071	c.2179G>A	c.(2179-2181)GCC>ACC	p.A727T	PCDH17_uc010aec.1_Missense_Mutation_p.A727T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	727	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCACCATCGCCGTCAAGTG	0.597000												
PCDH17	27253	broad.mit.edu	37	13	58298855	58298855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:58298855C>A	uc001vhq.1	+	4	3799	c.2907C>A	c.(2905-2907)TAC>TAA	p.Y969*	PCDH17_uc010aec.1_Nonsense_Mutation_p.Y968*|PCDH17_uc001vhr.1_Nonsense_Mutation_p.Y58*	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	969	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATGCAGATTACCGCACAAATC	0.438000												
PCDH9	5101	broad.mit.edu	37	13	67800778	67800778	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:67800778C>T	uc001vik.2	-	2	2487	c.1795G>A	c.(1795-1797)GCA>ACA	p.A599T	PCDH9_uc001vil.2_Missense_Mutation_p.A599T|PCDH9_uc010thl.1_Missense_Mutation_p.A599T|PCDH9_uc001vin.3_Missense_Mutation_p.A599T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	599	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCAGCATCTGCATCTGTCACT	0.373000												
PCDH9	5101	broad.mit.edu	37	13	67802452	67802452	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:67802452C>T	uc001vik.2	-	2	813	c.121G>A	c.(121-123)GGA>AGA	p.G41R	PCDH9_uc001vil.2_Missense_Mutation_p.G41R|PCDH9_uc010thl.1_Missense_Mutation_p.G41R|PCDH9_uc001vin.3_Missense_Mutation_p.G41R	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	41	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGTATGTTTCCTATGGGCACA	0.473000												
KLHL1	57626	broad.mit.edu	37	13	70514320	70514320	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:70514320G>A	uc001vip.2	-	4	1660	c.866C>T	c.(865-867)GCG>GTG	p.A289V	KLHL1_uc010thm.1_Missense_Mutation_p.A228V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	289					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGAAGGCACGCTGCAGCAAG	0.408000												
MYCBP2	23077	broad.mit.edu	37	13	77632491	77632491	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:77632491G>A	uc001vkf.2	-	79	13168	c.13077C>T	c.(13075-13077)TGC>TGT	p.C4359C	MYCBP2_uc010aev.2_Silent_p.C3763C|MYCBP2_uc001vke.2_Silent_p.C976C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	4359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448000												
MYCBP2	23077	broad.mit.edu	37	13	77670602	77670602	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:77670602C>T	uc001vkf.2	-	58	9776	c.9685G>A	c.(9685-9687)GCT>ACT	p.A3229T	MYCBP2_uc010aev.2_Missense_Mutation_p.A2633T	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3229	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGTCCACCAGCATATCGGCCA	0.398000												
SLITRK1	114798	broad.mit.edu	37	13	84453795	84453795	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:84453795G>T	uc001vlk.2	-	1	2734	c.1848C>A	c.(1846-1848)TCC>TCA	p.S616S		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	616	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACACCGAGATGGACACCCTGC	0.582000												
UGGT2	55757	broad.mit.edu	37	13	96555238	96555238	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:96555238G>T	uc001vmt.2	-	21	2542	c.2372C>A	c.(2371-2373)TCT>TAT	p.S791Y		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	791					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						AATTCCTCTAGAAATAGCTGT	0.333000												
OXGR1	27199	broad.mit.edu	37	13	97639850	97639850	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:97639850A>G	uc001vmx.1	-	4	408	c.164T>C	c.(163-165)ATA>ACA	p.I55T	OXGR1_uc010afr.1_Missense_Mutation_p.I55T	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	55	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GTAAGTGGATATCACTACTGC	0.458000												
RNF113B	140432	broad.mit.edu	37	13	98828988	98828988	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:98828988G>A	uc001vnk.2	-	1	534	c.503C>T	c.(502-504)TCC>TTC	p.S168F	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	168							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CATCCCCGAGGAGGAGTTGCC	0.632000												
NALCN	259232	broad.mit.edu	37	13	101936360	101936360	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:101936360T>G	uc001vox.1	-	10	1247	c.1058A>C	c.(1057-1059)GAA>GCA	p.E353A	NALCN_uc001voy.2_Missense_Mutation_p.E68A|NALCN_uc001voz.2_Missense_Mutation_p.E353A|NALCN_uc001vpa.2_Missense_Mutation_p.E353A	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	353	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)					AGCAGCATCTTCATGAAACAT	0.443000												
COL4A1	1282	broad.mit.edu	37	13	110828812	110828812	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:110828812A>C	uc001vqw.3	-	36	3139	c.3017T>G	c.(3016-3018)CTT>CGT	p.L1006R	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1006	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGTCCCGGAAGTCCTGGAGC	0.478000												
CARS2	79587	broad.mit.edu	37	13	111299480	111299480	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:111299480G>A	uc001vrd.2	-	11	1201	c.1161C>T	c.(1159-1161)TGC>TGT	p.C387C	CARS2_uc010tjm.1_RNA	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial	387					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGACGGAGCCGCAGGCCAGCT	0.667000												
SOX1	6656	broad.mit.edu	37	13	112722252	112722252	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:112722252G>A	uc001vsb.1	+	1	340	c.280G>A	c.(280-282)GAG>AAG	p.E94K		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	94	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GGTCATGTCCGAGGCCGAGAA	0.662000												
ATP11A	23250	broad.mit.edu	37	13	113512204	113512204	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:113512204A>G	uc001vsi.3	+	21	2579	c.2491A>G	c.(2491-2493)AGC>GGC	p.S831G	ATP11A_uc001vsj.3_Missense_Mutation_p.S831G|ATP11A_uc001vsm.1_Missense_Mutation_p.S707G|ATP11A_uc010ago.2_RNA	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	831	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAATGATGTCAGCATGATTCT	0.468000												
MCF2L	23263	broad.mit.edu	37	13	113699656	113699656	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:113699656C>T	uc001vsu.2	+	4	543	c.521C>T	c.(520-522)GCG>GTG	p.A174V	MCF2L_uc001vsq.2_Missense_Mutation_p.A174V|MCF2L_uc010tjr.1_Missense_Mutation_p.A117V|MCF2L_uc001vsr.2_Missense_Mutation_p.A121V|MCF2L_uc001vss.3_Missense_Mutation_p.A115V|MCF2L_uc010tjs.1_Missense_Mutation_p.A115V|MCF2L_uc001vst.1_Missense_Mutation_p.A79V	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	147	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.A115V(1)		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)				TCCGTGAAGGCGTCCGTCCTG	0.652000												
ADPRHL1	113622	broad.mit.edu	37	13	114098772	114098772	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:114098772A>C	uc001vtq.1	-	2	434	c.347T>G	c.(346-348)CTT>CGT	p.L116R	ADPRHL1_uc001vtp.1_Missense_Mutation_p.L34R	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1 isoform 1	116					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCAGGCGAGAAGGTAGTTATT	0.542000												
CDC16	8881	broad.mit.edu	37	13	115007681	115007681	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:115007681C>T	uc001vuk.1	+	6	665	c.467C>T	c.(466-468)GCT>GTT	p.A156V	CDC16_uc010tkm.1_Missense_Mutation_p.A156V|CDC16_uc001vul.1_Missense_Mutation_p.A156V|CDC16_uc001vum.1_Missense_Mutation_p.A62V|CDC16_uc001vun.1_Missense_Mutation_p.A155V|CDC16_uc001vuo.1_Missense_Mutation_p.A155V	NM_003903	NP_003894	Q13042	CDC16_HUMAN	anaphase-promoting complex, subunit 6	156	TPR 1.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			TACAAAGAAGCTTTGAAGCTT	0.398000												
OR4K13	390433	broad.mit.edu	37	14	20502296	20502296	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:20502296G>A	uc010tkz.1	-	1	622	c.622C>T	c.(622-624)CTG>TTG	p.L208L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGCAGACCAGTGACAGGAGC	0.493000												
SUPT16H	11198	broad.mit.edu	37	14	21829015	21829015	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:21829015G>A	uc001wao.2	-	17	2385	c.2046C>T	c.(2044-2046)GCC>GCT	p.A682A	SUPT16H_uc001wan.2_5'Flank	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	682					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTGACATGGGCCTCCAGTG	0.428000												
CHD8	57680	broad.mit.edu	37	14	21896212	21896212	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:21896212G>A	uc001was.1	-	4	674	c.580C>T	c.(580-582)CGT>TGT	p.R194C	CHD8_uc001war.1_Missense_Mutation_p.R90C	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	473					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCGCGGGCACGGGCTCTCGCA	0.542000												
MMP14	4323	broad.mit.edu	37	14	23312625	23312625	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23312625A>G	uc001whc.2	+	5	1082	c.848A>G	c.(847-849)TAT>TGT	p.Y283C		NM_004995	NP_004986	P50281	MMP14_HUMAN	matrix metalloproteinase 14 preproprotein	283	Extracellular (Potential).					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CAGCAACTTTATGGCGAGTAG	0.577000												
LRP10	26020	broad.mit.edu	37	14	23345494	23345494	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23345494T>C	uc001whd.2	+	5	1890	c.1337T>C	c.(1336-1338)GTC>GCC	p.V446A	LRP10_uc001whe.2_Missense_Mutation_p.V322A	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	446	Helical; (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACAGCTGCAGTCATTGGCAGC	0.602000												
HAUS4	54930	broad.mit.edu	37	14	23416875	23416875	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23416875G>A	uc001whp.2	-	7	805	c.774C>T	c.(772-774)TCC>TCT	p.S258S	HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Silent_p.S132S|HAUS4_uc001whr.2_Silent_p.S258S|HAUS4_uc001whs.2_Silent_p.S213S|HAUS4_uc001wht.2_Silent_p.S258S|HAUS4_uc001whu.2_Silent_p.S213S|HAUS4_uc001whv.2_Silent_p.S134S|HAUS4_uc001whw.2_Silent_p.S258S|HAUS4_uc001whx.2_Silent_p.S213S	NM_017815	NP_060285	Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	258					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				ovary(1)	1						GGTCTAGCTCGGATTGAGTCT	0.522000												
IL25	64806	broad.mit.edu	37	14	23845070	23845070	+	Missense_Mutation	SNP	G	G	A	rs145694193	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23845070G>A	uc001wjr.2	+	2	825	c.515G>A	c.(514-516)CGG>CAG	p.R172Q	IL25_uc001wjq.2_Missense_Mutation_p.R156Q|CMTM5_uc001wjs.2_5'Flank|CMTM5_uc001wjt.2_5'Flank|CMTM5_uc010akm.2_5'Flank|CMTM5_uc010akn.2_5'Flank|CMTM5_uc001wju.2_5'Flank|CMTM5_uc010ako.2_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	interleukin 25 isoform 1 precursor	172					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			ovary(1)	1	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GTGTGTGTGCGGCCCCGTGTG	0.617000												
NGDN	25983	broad.mit.edu	37	14	23944469	23944469	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:23944469A>G	uc001wjy.2	+	4	261	c.234A>G	c.(232-234)GGA>GGG	p.G78G	NGDN_uc001wjz.2_Silent_p.G78G|NGDN_uc001wka.2_5'Flank	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	neuroguidin isoform 1	78	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus					0	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCTCAGGAGGATCTCTTCAGG	0.463000												
DHRS4L2	317749	broad.mit.edu	37	14	24470245	24470245	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24470245C>T	uc001wli.3	+	5	613	c.483C>T	c.(481-483)GGC>GGT	p.G161G	DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Missense_Mutation_p.R138W|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Intron|DHRS4L2_uc010alb.2_Silent_p.G35G	NM_198083	NP_932349	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4	99							binding|oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.00962)		TTTCCAGAGGCGGCTCAGTGG	0.552000												
LRRC16B	90668	broad.mit.edu	37	14	24534900	24534900	+	Missense_Mutation	SNP	G	G	A	rs149692862		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24534900G>A	uc001wlj.2	+	34	3623	c.3466G>A	c.(3466-3468)GGT>AGT	p.G1156S	LRRC16B_uc001wlk.2_Intron	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1156										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		AAGGGTTCACGGTGTTGCCCT	0.587000												
PCK2	5106	broad.mit.edu	37	14	24572735	24572735	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24572735C>T	uc001wlt.2	+	10	1617	c.1485C>T	c.(1483-1485)CAC>CAT	p.H495H	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Silent_p.H361H|PCK2_uc010tnx.1_Silent_p.H361H|PCK2_uc001wlu.3_Silent_p.H329H	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	495					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		TCATCATGCACGACCCATTTG	0.582000												
PCK2	5106	broad.mit.edu	37	14	24572829	24572829	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24572829C>T	uc001wlt.2	+	10	1711	c.1579C>T	c.(1579-1581)CCC>TCC	p.P527S	NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Intron|PCK2_uc010tnw.1_Missense_Mutation_p.P393S|PCK2_uc010tnx.1_Missense_Mutation_p.P393S|PCK2_uc001wlu.3_Missense_Mutation_p.P361S	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	mitochondrial phosphoenolpyruvate carboxykinase	527					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0184)		GGCCCAGCTGCCCCGTATCTT	0.607000												
DHRS1	115817	broad.mit.edu	37	14	24760809	24760809	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24760809G>A	uc001woj.1	-	7	946	c.677C>T	c.(676-678)GCG>GTG	p.A226V	DHRS1_uc010aln.1_Intron|DHRS1_uc001wok.2_Missense_Mutation_p.A226V	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	226						endoplasmic reticulum	binding|oxidoreductase activity				0				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TGTGGTTTCCGCAGATGAGAA	0.493000												
COCH	1690	broad.mit.edu	37	14	31354747	31354747	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:31354747T>A	uc001wqr.2	+	10	961	c.881T>A	c.(880-882)GTC>GAC	p.V294D	COCH_uc001wqp.2_Missense_Mutation_p.V294D|COCH_uc001wqq.3_Missense_Mutation_p.V294D|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.V145D	NM_004086	NP_004077	O43405	COCH_HUMAN	cochlin precursor	294	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				pancreas(1)|central_nervous_system(1)|skin(1)	3	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAGTTTGGTGTCAATGTATTT	0.458000												
INSM2	84684	broad.mit.edu	37	14	36003677	36003677	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:36003677G>A	uc001wth.1	+	1	430	c.219G>A	c.(217-219)TCG>TCA	p.S73S		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GGGAACAGTCGGGGTCGCCAT	0.736000												
C14orf104	55172	broad.mit.edu	37	14	50100341	50100341	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:50100341G>T	uc001wws.3	-	1	1608	c.1527C>A	c.(1525-1527)GCC>GCA	p.A509A	SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Silent_p.A509A	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	kintoun isoform 1	509					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm					0	all_epithelial(31;0.0021)|Breast(41;0.0124)					GACCACCCATGGCGCAGGCTG	0.617000									Kartagener_syndrome			
NIN	51199	broad.mit.edu	37	14	51224327	51224327	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:51224327G>A	uc001wym.2	-	18	3612	c.3421C>T	c.(3421-3423)CGG>TGG	p.R1141W	NIN_uc001wyi.2_Missense_Mutation_p.R1141W|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.R1147W|NIN_uc001wyo.2_Missense_Mutation_p.R1141W	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	1141					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					AGGACATGCCGCCTGGTCACA	0.483000			T	PDGFRB	MPD							
GCH1	2643	broad.mit.edu	37	14	55369080	55369080	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:55369080G>A	uc001xbh.1	-	1	463	c.302C>T	c.(301-303)GCC>GTC	p.A101V	GCH1_uc001xbi.1_Missense_Mutation_p.A101V|GCH1_uc001xbj.1_Missense_Mutation_p.A101V|GCH1_uc001xbk.1_Missense_Mutation_p.A101V|GCH1_uc010aol.1_Missense_Mutation_p.A101V|GCH1_uc001xbl.1_Missense_Mutation_p.A101V	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	GTP cyclohydrolase 1 isoform 1	101					dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding			skin(1)	1						GAACTGCATGGCCGAGGCCGC	0.682000												
WDHD1	11169	broad.mit.edu	37	14	55462349	55462349	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:55462349G>A	uc001xbm.1	-	11	1203	c.1125C>T	c.(1123-1125)CAC>CAT	p.H375H	WDHD1_uc001xbn.1_Silent_p.H252H	NM_007086	NP_009017	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	375						cytoplasm|nucleoplasm	DNA binding			skin(1)	1						CTTCTAGGATGTGACTTCGCT	0.348000												
TBPL2	387332	broad.mit.edu	37	14	55903630	55903630	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:55903630T>C	uc001xby.2	-	2	257	c.257A>G	c.(256-258)GAA>GGA	p.E86G		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	86					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding				0						TTCTTTGACTTCAGGGTTCGA	0.443000												
HSPA2	3306	broad.mit.edu	37	14	65008759	65008759	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65008759G>A	uc001xhj.2	+	2	1268	c.1192G>A	c.(1192-1194)GAC>AAC	p.D398N	HSPA2_uc001xhk.3_Missense_Mutation_p.D398N	NM_021979	NP_068814	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	398					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			skin(1)	1				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCTGCTACTCGACGTGACCCC	0.622000												
C14orf50	145376	broad.mit.edu	37	14	65019530	65019530	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65019530A>G	uc001xhl.1	+	3	231	c.135_splice	c.e3-2	p.R45_splice		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376											skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		TTTCTTTCTCAGGTTTGCCGC	0.378000												
PLEKHG3	26030	broad.mit.edu	37	14	65210188	65210188	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65210188C>T	uc001xho.1	+	17	3696	c.3427C>T	c.(3427-3429)CGG>TGG	p.R1143W	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R1087W|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R1264W|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R685W|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R648W	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1143					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGACAACCGGCGGGTGATTGT	0.667000												
FNTB	2342	broad.mit.edu	37	14	65494205	65494205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65494205G>T	uc001xia.2	+	5	574	c.409G>T	c.(409-411)GAA>TAA	p.E137*	FNTB_uc010tsl.1_Nonsense_Mutation_p.E171*|FNTB_uc010tsm.1_Nonsense_Mutation_p.E91*|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_5'UTR|FNTB_uc010tso.1_Nonsense_Mutation_p.E52*	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	137	PFTB 1.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TCAGAGCCCAGAAGGTGGCTT	0.507000												
FNTB	2342	broad.mit.edu	37	14	65507587	65507587	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:65507587G>A	uc001xia.2	+	8	937	c.772G>A	c.(772-774)GCG>ACG	p.A258T	FNTB_uc010tsl.1_Missense_Mutation_p.A292T|FNTB_uc010tsm.1_Missense_Mutation_p.A212T|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Missense_Mutation_p.A14T|FNTB_uc010tso.1_Missense_Mutation_p.A173T	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	258	PFTB 3.				protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGCCTGGCCGCGCTGGTAAT	0.522000												
PLEKHH1	57475	broad.mit.edu	37	14	68023986	68023986	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:68023986G>T	uc001xjl.1	+	4	332	c.190G>T	c.(190-192)GTG>TTG	p.V64L		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	64	Potential.					cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TACTTTTCAGGTGGGTGTCAT	0.498000												
C14orf169	79697	broad.mit.edu	37	14	73959333	73959333	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:73959333G>A	uc001xok.1	+	3	1691	c.1612G>A	c.(1612-1614)GTG>ATG	p.V538M	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	538					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		ACCTGTAAACGTGGGGGCCCA	0.517000												
C14orf43	91748	broad.mit.edu	37	14	74203799	74203799	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:74203799C>T	uc001xot.2	-	3	2434	c.1651G>A	c.(1651-1653)GGG>AGG	p.G551R	C14orf43_uc001xou.2_Missense_Mutation_p.G551R|C14orf43_uc010tud.1_Missense_Mutation_p.G551R|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGACCCTTCCCGTCCTCATCA	0.597000												
YLPM1	56252	broad.mit.edu	37	14	75265970	75265970	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75265970C>T	uc001xqj.3	+	5	4094	c.3970C>T	c.(3970-3972)CGT>TGT	p.R1324C	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1129	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATCACAGTTTCGTGAACGGGA	0.443000												
YLPM1	56252	broad.mit.edu	37	14	75301989	75301989	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75301989G>A	uc001xqj.3	+	20	6440	c.6316G>A	c.(6316-6318)GAG>AAG	p.E2106K	YLPM1_uc001xql.3_RNA	NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	1911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGACCTGGAAGAGAAGAAGGA	0.458000												
PROX2	283571	broad.mit.edu	37	14	75329625	75329625	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75329625G>T	uc001xqr.1	-	1	913	c.913C>A	c.(913-915)CTG>ATG	p.L305M	PROX2_uc001xqq.1_Intron	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	305					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CGCTTGGCCAGTGATAAATTT	0.552000												
PROX2	283571	broad.mit.edu	37	14	75329843	75329843	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:75329843C>A	uc001xqr.1	-	1	695	c.695G>T	c.(694-696)AGG>ATG	p.R232M	PROX2_uc001xqq.1_Missense_Mutation_p.R158M	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	232					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGACACTGCCCTGGTCAGCTC	0.547000												
C14orf166B	145497	broad.mit.edu	37	14	77292883	77292883	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:77292883C>A	uc001xsx.2	+	1	159	c.45C>A	c.(43-45)TGC>TGA	p.C15*	C14orf166B_uc010asn.1_Translation_Start_Site|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	hypothetical protein LOC145497	15											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CCAGGGCTTGCTGGGAGGGAA	0.537000												
KIAA1737	85457	broad.mit.edu	37	14	77580621	77580621	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:77580621G>A	uc001xtd.2	+	4	1339	c.1160G>A	c.(1159-1161)GGC>GAC	p.G387D	KIAA1737_uc001xtc.1_Missense_Mutation_p.G289D	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	387											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGTAATACAGGCAGTGACCTA	0.488000												
SNW1	22938	broad.mit.edu	37	14	78203418	78203418	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:78203418T>C	uc001xuf.2	-	6	561	c.534A>G	c.(532-534)CGA>CGG	p.R178R	SNW1_uc010tvm.1_Silent_p.R103R|SNW1_uc010asu.2_Silent_p.R16R|SNW1_uc010tvn.1_Silent_p.R178R	NM_012245	NP_036377	Q13573	SNW1_HUMAN	SKI-interacting protein	178	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATGGTGTGTATCTGAAGAAAG	0.388000												
NRXN3	9369	broad.mit.edu	37	14	79433613	79433613	+	Missense_Mutation	SNP	G	G	A	rs140528152		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:79433613G>A	uc001xun.2	+	10	2212	c.1721G>A	c.(1720-1722)CGC>CAC	p.R574H	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R699H	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	947	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423000												
KCNK10	54207	broad.mit.edu	37	14	88652118	88652118	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:88652118C>T	uc001xwo.2	-	7	1835	c.1378G>A	c.(1378-1380)GAC>AAC	p.D460N	KCNK10_uc001xwm.2_Missense_Mutation_p.D465N|KCNK10_uc001xwn.2_Missense_Mutation_p.D465N	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	460	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						TTTTTGAGGTCCTTGTTTTTC	0.527000												
TTC8	123016	broad.mit.edu	37	14	89307467	89307467	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:89307467T>G	uc010ath.2	+	4	520	c.386T>G	c.(385-387)ATC>AGC	p.I129S	TTC8_uc010atg.1_RNA|TTC8_uc001xxl.2_5'UTR|TTC8_uc010ati.2_5'UTR|TTC8_uc001xxm.2_Missense_Mutation_p.I129S|TTC8_uc010atj.2_Intron|TTC8_uc001xxi.2_Missense_Mutation_p.I139S|TTC8_uc001xxj.2_Missense_Mutation_p.I129S|TTC8_uc001xxk.2_Missense_Mutation_p.I129S	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8 isoform B	139					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding				0						GAACAGGCTATCAGAACACCC	0.532000									Bardet-Biedl_syndrome			
RPS6KA5	9252	broad.mit.edu	37	14	91369214	91369214	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:91369214T>C	uc001xys.2	-	9	1272	c.1057A>G	c.(1057-1059)ACA>GCA	p.T353A	RPS6KA5_uc010twi.1_Missense_Mutation_p.T274A|RPS6KA5_uc001xyt.2_Missense_Mutation_p.T353A|RPS6KA5_uc010att.1_RNA	NM_004755	NP_004746	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, polypeptide 5	353	AGC-kinase C-terminal.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)	1		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TCCATTTCTGTGAACTCTTCT	0.443000												
SERPINA11	256394	broad.mit.edu	37	14	94914898	94914898	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:94914898T>C	uc001ydd.1	-	2	274	c.214A>G	c.(214-216)AAC>GAC	p.N72D		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	72					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		AAGAAGATGTTTCCGGGGGCG	0.567000												
DICER1	23405	broad.mit.edu	37	14	95557591	95557591	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:95557591A>G	uc001ydw.2	-	26	5658	c.5476T>C	c.(5476-5478)TCA>CCA	p.S1826P	DICER1_uc010avh.1_Missense_Mutation_p.S724P|DICER1_uc001ydv.2_Missense_Mutation_p.S1816P|DICER1_uc001ydx.2_Missense_Mutation_p.S1826P	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1826					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTCTCCAGTGACATCCCACTA	0.433000			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
DICER1	23405	broad.mit.edu	37	14	95574665	95574665	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:95574665G>T	uc001ydw.2	-	16	2614	c.2432C>A	c.(2431-2433)CCT>CAT	p.P811H	DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.P801H|DICER1_uc001ydx.2_Missense_Mutation_p.P811H	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	811					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACCTACCTGAGGTATGGGTTT	0.383000			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
BCL11B	64919	broad.mit.edu	37	14	99697710	99697710	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:99697710A>C	uc001yga.2	-	3	879	c.612T>G	c.(610-612)GCT>GCG	p.A204A	BCL11B_uc001ygb.2_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	204						nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ATCCAAAGGGAGCCTCCGTCT	0.721000			T	TLX3	T-ALL							
CYP46A1	10858	broad.mit.edu	37	14	100192567	100192567	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:100192567T>A	uc001ygo.2	+	14	1306	c.1306T>A	c.(1306-1308)TCC>ACC	p.S436T	CYP46A1_uc001ygp.2_Missense_Mutation_p.S273T	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	436					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGGCCACCGCTCCTGCATCGG	0.642000												
DIO3	1735	broad.mit.edu	37	14	102028063	102028063	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:102028063G>A	uc010txq.1	+	1	376	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	51	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_neural(303;0.185)				CGCCGCCGCCGGGGGCAGCCC	0.657000												
DYNC1H1	1778	broad.mit.edu	37	14	102455091	102455091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:102455091C>T	uc001yks.2	+	10	2934	c.2770C>T	c.(2770-2772)CAG>TAG	p.Q924*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	924	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGCTTGGACGCAGGTTCTTCT	0.448000												
DYNC1H1	1778	broad.mit.edu	37	14	102493762	102493762	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:102493762C>T	uc001yks.2	+	46	9093	c.8929C>T	c.(8929-8931)CGG>TGG	p.R2977W		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2977	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGAAGATCTACGGACAGTGTT	0.423000												
ASPG	374569	broad.mit.edu	37	14	104573661	104573661	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:104573661T>C	uc001yoq.1	+	12	1472	c.1412T>C	c.(1411-1413)CTG>CCG	p.L471P	ASPG_uc001yoo.1_Missense_Mutation_p.L499P|ASPG_uc001yop.1_Missense_Mutation_p.L471P|ASPG_uc001yor.1_Missense_Mutation_p.L471P	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	471	ANK 4.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						TTCAGCCCGCTGCTGCTGGCC	0.672000												
JAG2	3714	broad.mit.edu	37	14	105613019	105613019	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:105613019G>A	uc001yqg.2	-	21	2926	c.2522C>T	c.(2521-2523)ACG>ATG	p.T841M	JAG2_uc010axf.2_Translation_Start_Site|JAG2_uc001yqf.2_Missense_Mutation_p.T245M|JAG2_uc001yqh.2_Missense_Mutation_p.T803M	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	841	Extracellular (Potential).|EGF-like 16; calcium-binding (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ATCCACACACGTGGCCCCGTA	0.682000												
OR4M2	390538	broad.mit.edu	37	15	22369163	22369163	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:22369163G>T	uc010tzu.1	+	1	588	c.588G>T	c.(586-588)GAG>GAT	p.E196D	LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	196	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCCCAGAGGAGTTAGTGATGA	0.463000												
MKRN3	7681	broad.mit.edu	37	15	23810931	23810931	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:23810931T>C	uc001ywh.3	+	1	478	c.2T>C	c.(1-3)ATG>ACG	p.M1T	MKRN3_uc001ywi.2_Missense_Mutation_p.M1T|MKRN3_uc010ayi.1_Missense_Mutation_p.M1T	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	1						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAAGCAGCCATGGAAGAGCCT	0.642000												
C15orf2	23742	broad.mit.edu	37	15	24922369	24922369	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:24922369A>G	uc001ywo.2	+	1	1829	c.1355A>G	c.(1354-1356)GAG>GGG	p.E452G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	452	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAAATGGATGAGAAAATAGCA	0.493000												
APBA2	321	broad.mit.edu	37	15	29406136	29406136	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:29406136C>T	uc001zck.2	+	13	2302	c.2095C>T	c.(2095-2097)CGC>TGC	p.R699C	APBA2_uc010uat.1_Missense_Mutation_p.R687C|APBA2_uc001zcl.2_Missense_Mutation_p.R687C	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	699	PDZ 2.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGTGGGCCACCGCATCATCGA	0.607000												
TJP1	7082	broad.mit.edu	37	15	30018641	30018641	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:30018641G>A	uc001zcr.2	-	18	2829	c.2354C>T	c.(2353-2355)GCG>GTG	p.A785V	TJP1_uc010azl.2_Missense_Mutation_p.A773V|TJP1_uc001zcq.2_Missense_Mutation_p.A789V|TJP1_uc001zcs.2_Missense_Mutation_p.A785V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	785					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TTCTTTCAGCGCACCATACCA	0.348000												
MTMR15	22909	broad.mit.edu	37	15	31214442	31214442	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:31214442C>T	uc001zff.2	+	8	2348	c.2057C>T	c.(2056-2058)GCC>GTC	p.A686V	MTMR15_uc001zfe.2_Missense_Mutation_p.A291V	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	myotubularin related protein 15 isoform a	686	Potential.				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding				0		all_lung(180;2.23e-09)		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)		CAATAGGAAGCCGTCAGAGAA	0.408000								Direct_reversal_of_damage|Editing_and_processing_nucleases				
RYR3	6263	broad.mit.edu	37	15	33941292	33941292	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:33941292G>T	uc001zhi.2	+	31	4068	c.3998G>T	c.(3997-3999)CGC>CTC	p.R1333L	RYR3_uc010bar.2_Missense_Mutation_p.R1333L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1333	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACGCCATCCGCATCTTTGCT	0.527000												
RYR3	6263	broad.mit.edu	37	15	34040387	34040387	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:34040387A>G	uc001zhi.2	+	54	8132	c.8062A>G	c.(8062-8064)AGG>GGG	p.R2688G	RYR3_uc010bar.2_Missense_Mutation_p.R2688G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2688	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGTGGAGAGGACCAAAGA	0.532000												
C15orf52	388115	broad.mit.edu	37	15	40629609	40629609	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:40629609G>A	uc001zlh.3	-	7	870	c.854C>T	c.(853-855)GCC>GTC	p.A285V	C15orf52_uc001zli.1_Missense_Mutation_p.A217V|C15orf52_uc010ucn.1_Missense_Mutation_p.A75V	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	285										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCTGCCCTGGCCGGGCCTTC	0.617000												
IVD	3712	broad.mit.edu	37	15	40703818	40703818	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:40703818G>T	uc001zls.3	+	6	958	c.624G>T	c.(622-624)CTG>CTT	p.L208L	IVD_uc001zlq.2_Silent_p.L178L	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	205					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTGACGTCCTGATTGTCTATG	0.517000												
SPINT1	6692	broad.mit.edu	37	15	41149029	41149029	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:41149029C>T	uc001zna.2	+	11	1650	c.1446C>T	c.(1444-1446)ATC>ATT	p.I482I	SPINT1_uc001znb.2_Silent_p.I466I|SPINT1_uc001znc.2_Silent_p.I466I|SPINT1_uc010ucs.1_Silent_p.I473I	NM_181642	NP_857593	O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	482						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGTAGCCATCTTGGGTTACT	0.587000												
RPAP1	26015	broad.mit.edu	37	15	41814328	41814328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:41814328G>A	uc001zod.2	-	20	2987	c.2863C>T	c.(2863-2865)CAG>TAG	p.Q955*	RPAP1_uc001zoc.2_5'UTR	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	955	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCAGGTACTGCAGGTGGTAC	0.592000												
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42138484	42138484	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42138484A>G	uc010bco.2	+	17	1785	c.1684A>G	c.(1684-1686)ACG>GCG	p.T562A	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.T793A|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.T793A|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.T263A|JMJD7-PLA2G4B_uc001zor.1_3'UTR	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	562	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1						CGATCTTCTGACGTGGCGTCC	0.527000												
SPTBN5	51332	broad.mit.edu	37	15	42167711	42167711	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42167711C>T	uc001zos.2	-	22	4460	c.4127G>A	c.(4126-4128)CGT>CAT	p.R1376H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1411	Spectrin 10.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTCGTCCCCACGCTCAGTCAT	0.607000												
CAPN3	825	broad.mit.edu	37	15	42703095	42703095	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42703095C>T	uc001zpn.1	+	22	2583	c.2277C>T	c.(2275-2277)AAC>AAT	p.N759N	CAPN3_uc001zpk.1_Silent_p.N526N|CAPN3_uc001zpl.1_Silent_p.N666N|CAPN3_uc010udf.1_Silent_p.N672N|CAPN3_uc010udg.1_Silent_p.N624N|CAPN3_uc001zpo.1_Silent_p.N753N|CAPN3_uc001zpp.1_Silent_p.N667N|CAPN3_uc001zpq.1_Silent_p.N247N|CAPN3_uc010bcv.1_Silent_p.N94N|CAPN3_uc001zpr.1_Silent_p.N94N|CAPN3_uc001zps.1_Silent_p.N94N|CAPN3_uc001zpt.1_Silent_p.N94N	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	759	Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCCACCTCAACAACCAGCTCT	0.532000												
CDAN1	146059	broad.mit.edu	37	15	43028229	43028229	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:43028229C>T	uc001zql.2	-	3	734	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	206						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGAGAGTGACCGCTCTTCGCT	0.567000												
TGM5	9333	broad.mit.edu	37	15	43552729	43552729	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:43552729C>T	uc001zrd.1	-	2	67	c.59G>A	c.(58-60)CGG>CAG	p.R20Q	TGM5_uc001zre.1_Missense_Mutation_p.R20Q	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	20					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGTGTGGTGCCGCACATTATT	0.582000												
TP53BP1	7158	broad.mit.edu	37	15	43714075	43714075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:43714075G>A	uc001zrs.2	-	19	4211	c.4063C>T	c.(4063-4065)CGA>TGA	p.R1355*	TP53BP1_uc010udp.1_Nonsense_Mutation_p.R1355*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.R1360*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.R1360*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.R1360*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1355					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGCCTCCTCGGGAGCTGGGT	0.567000								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
TRIM69	140691	broad.mit.edu	37	15	45047120	45047120	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:45047120A>G	uc001zuf.2	+	3	924	c.29A>G	c.(28-30)AAC>AGC	p.N10S	TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron|TRIM69_uc001zug.1_Missense_Mutation_p.N10S|TRIM69_uc001zuh.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	tripartite motif-containing 69 isoform a	10	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding				0		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCCTCCTCCAACATCGATCCA	0.433000												
DUOX1	53905	broad.mit.edu	37	15	45444669	45444669	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:45444669G>A	uc001zus.1	+	26	3725	c.3379G>A	c.(3379-3381)GTG>ATG	p.V1127M	DUOX1_uc001zut.1_Missense_Mutation_p.V1127M|DUOX1_uc010bee.1_Missense_Mutation_p.V507M|DUOX1_uc001zuu.2_Missense_Mutation_p.V269M	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1127	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).|Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGACGCCGCCGTGGACTTCCA	0.622000												
FBN1	2200	broad.mit.edu	37	15	48808388	48808388	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:48808388T>C	uc001zwx.1	-	11	1647	c.1319A>G	c.(1318-1320)GAG>GGG	p.E440G		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	440	Pro-rich.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTTGGTGGCTCCCGAGATGG	0.398000												
DTWD1	56986	broad.mit.edu	37	15	49935572	49935572	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:49935572C>T	uc001zxq.2	+	6	989	c.712C>T	c.(712-714)CGC>TGC	p.R238C	DTWD1_uc001zxs.2_Missense_Mutation_p.R238C|DTWD1_uc001zxr.2_Missense_Mutation_p.R151C|DTWD1_uc001zxo.2_Missense_Mutation_p.R238C	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	238											0		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TTGCTTTTGGCGCCATCAAAA	0.269000												
ATP8B4	79895	broad.mit.edu	37	15	50158588	50158588	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:50158588T>C	uc001zxu.2	-	26	3263	c.3121A>G	c.(3121-3123)AGT>GGT	p.S1041G	ATP8B4_uc010ber.2_Missense_Mutation_p.S914G|ATP8B4_uc010ufd.1_Missense_Mutation_p.S851G|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.S44G	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1041	Extracellular (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATGCCATTACTGTGCATTGTA	0.403000												
TRPM7	54822	broad.mit.edu	37	15	50901876	50901876	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:50901876T>G	uc001zyt.3	-	19	2746	c.2482A>C	c.(2482-2484)AAT>CAT	p.N828H	TRPM7_uc010bew.1_Missense_Mutation_p.N828H|TRPM7_uc001zyu.2_Missense_Mutation_p.N386H	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel,	828	Extracellular (Potential).				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1)	10				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCCATCTCATTCTTTCCTTCA	0.279000												
MYO5A	4644	broad.mit.edu	37	15	52699556	52699556	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:52699556A>G	uc002aby.2	-	8	1123	c.879T>C	c.(877-879)AGT>AGC	p.S293S	MYO5A_uc002abx.3_Silent_p.S293S|MYO5A_uc010uge.1_Silent_p.S162S	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	293	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CAATCACAGGACTGCCTCCTT	0.383000												
PYGO1	26108	broad.mit.edu	37	15	55838364	55838364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:55838364C>A	uc010bfl.1	-	3	1173	c.1117G>T	c.(1117-1119)GGA>TGA	p.G373*	PYGO1_uc002adf.1_Nonsense_Mutation_p.G373*	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	373	PHD-type.				Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TCAGTCATTCCAGTACAGATC	0.448000												
FOXB1	27023	broad.mit.edu	37	15	60297413	60297413	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:60297413G>A	uc002agj.1	+	2	730	c.251G>A	c.(250-252)GGC>GAC	p.G84D	FOXB1_uc010bgh.1_Intron	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	forkhead box B1	84	Fork-head.				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)|central_nervous_system(1)	2						CCAGGCAAGGGCAGCTTCTGG	0.637000												
VPS13C	54832	broad.mit.edu	37	15	62261496	62261496	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:62261496A>G	uc002agz.2	-	28	2985	c.2911_splice	c.e28+1	p.G971_splice	VPS13C_uc002aha.2_Splice_Site_p.G928_splice|VPS13C_uc002ahb.1_Splice_Site_p.G971_splice|VPS13C_uc002ahc.1_Splice_Site_p.G928_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A						protein localization					ovary(2)	2						TATGGGTATTACCTTCAATTT	0.269000												
VPS13C	54832	broad.mit.edu	37	15	62264932	62264932	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:62264932A>G	uc002agz.2	-	27	2723	c.2649T>C	c.(2647-2649)GAT>GAC	p.D883D	VPS13C_uc002aha.2_Silent_p.D840D|VPS13C_uc002ahb.1_Silent_p.D883D|VPS13C_uc002ahc.1_Silent_p.D840D	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	883					protein localization					ovary(2)	2						GTGGTTCTCCATCTTCAGCAT	0.353000												
TLN2	83660	broad.mit.edu	37	15	62939540	62939540	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:62939540C>T	uc002alb.3	+	1	31	c.31C>T	c.(31-33)CGC>TGC	p.R11C	MGC15885_uc010uib.1_5'Flank|MGC15885_uc002ala.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	11					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GATTTGTGTGCGCCACTGCAA	0.488000												
TLN2	83660	broad.mit.edu	37	15	63031561	63031561	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63031561G>A	uc002alb.3	+	28	3702	c.3702G>A	c.(3700-3702)ACG>ACA	p.T1234T	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1234					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						CTCCAAGCACGAAGCCTTTCC	0.572000												
HERC1	8925	broad.mit.edu	37	15	63904727	63904727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63904727C>T	uc002amp.2	-	77	14271	c.14123G>A	c.(14122-14124)TGG>TAG	p.W4708*	HERC1_uc002amo.2_5'Flank	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4708	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGGAACAATCCAGGACATCCC	0.577000												
HERC1	8925	broad.mit.edu	37	15	63967043	63967043	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63967043G>A	uc002amp.2	-	38	7492	c.7344C>T	c.(7342-7344)GAC>GAT	p.D2448D		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2448					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						GACTTTTGACGTCATCAGATG	0.418000												
ZNF609	23060	broad.mit.edu	37	15	64791864	64791864	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:64791864A>G	uc002ann.2	+	1	246	c.246A>G	c.(244-246)CAA>CAG	p.Q82Q	ZNF609_uc010bgy.2_Silent_p.Q82Q	NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	82						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGGTCCTCAAGGGAAGGAAG	0.527000												
ANKDD1A	348094	broad.mit.edu	37	15	65242166	65242166	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:65242166G>A	uc002aoa.2	+	14	1485	c.1456G>A	c.(1456-1458)GTG>ATG	p.V486M	ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Missense_Mutation_p.V363M	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	486	Death.				signal transduction					ovary(1)	1						CGAGGGCCTCGTGGCCATTGG	0.637000												
IQCH	64799	broad.mit.edu	37	15	67553631	67553631	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:67553631T>G	uc002aqo.1	+	2	120	c.73T>G	c.(73-75)TTA>GTA	p.L25V	IQCH_uc010ujv.1_5'UTR|IQCH_uc002aqn.1_5'UTR|IQCH_uc002aqq.1_5'UTR|IQCH_uc002aqp.1_5'UTR|IQCH_uc002aqm.2_Missense_Mutation_p.L25V	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	25										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CCTTTATCAGTTAAAGGAGAA	0.333000												
LARP6	55323	broad.mit.edu	37	15	71124946	71124946	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:71124946G>A	uc002ass.2	-	3	992	c.921C>T	c.(919-921)GAC>GAT	p.D307D		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	307					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						TGGGCTCCTCGTCATGATTTT	0.483000												
LRRC49	54839	broad.mit.edu	37	15	71256165	71256165	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:71256165C>T	uc002asw.2	+	9	1062	c.815C>T	c.(814-816)TCG>TTG	p.S272L	LRRC49_uc002asu.2_Missense_Mutation_p.S262L|LRRC49_uc002asx.2_Missense_Mutation_p.S228L|LRRC49_uc010ukf.1_Missense_Mutation_p.S277L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Missense_Mutation_p.S244L	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	272						cytoplasm|microtubule				ovary(1)	1						TCTTCCCTCTCGGACATCACC	0.433000												
THSD4	79875	broad.mit.edu	37	15	72057442	72057442	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:72057442C>T	uc002atb.1	+	15	2752	c.2673C>T	c.(2671-2673)GAC>GAT	p.D891D	THSD4_uc002ate.2_Silent_p.D531D|THSD4_uc002atg.1_Silent_p.D94D	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	891	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			ovary(2)	2						AAGTGTTGGACCCCTCTGAAT	0.517000												
NEO1	4756	broad.mit.edu	37	15	73470737	73470737	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:73470737A>T	uc002avm.3	+	7	1402	c.1260A>T	c.(1258-1260)CAA>CAT	p.Q420H	NEO1_uc010ukx.1_Missense_Mutation_p.Q420H|NEO1_uc010uky.1_Missense_Mutation_p.Q420H|NEO1_uc010ukz.1_Translation_Start_Site|NEO1_uc002avn.3_Missense_Mutation_p.Q65H	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	420	Extracellular (Potential).|Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						GAAATGCACAAGCTGGAGCCC	0.423000												
NEO1	4756	broad.mit.edu	37	15	73570470	73570470	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:73570470A>G	uc002avm.3	+	22	3336	c.3194_splice	c.e22-2	p.A1065_splice	NEO1_uc010ukx.1_Splice_Site_p.A1054_splice|NEO1_uc010uky.1_Splice_Site_p.A1065_splice|NEO1_uc010ukz.1_Splice_Site_p.A478_splice|NEO1_uc002avn.3_Splice_Site_p.A703_splice	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor						axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						CTTCTCCTTTAGCCTCAGGGT	0.458000												
ISLR2	57611	broad.mit.edu	37	15	74425134	74425134	+	Silent	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:74425134T>G	uc002axd.2	+	4	808	c.39T>G	c.(37-39)CTT>CTG	p.L13L	ISLR2_uc002axe.2_Silent_p.L13L|ISLR2_uc010bjg.2_Silent_p.L13L|ISLR2_uc010bjf.2_Silent_p.L13L	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	13					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						TCTGGGCGCTTCTAGGAGTGG	0.617000												
STRA6	64220	broad.mit.edu	37	15	74473268	74473268	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:74473268C>T	uc002axk.2	-	18	1877	c.1695G>A	c.(1693-1695)ACG>ACA	p.T565T	STRA6_uc002axi.2_Silent_p.T374T|STRA6_uc010ulh.1_Silent_p.T603T|STRA6_uc002axj.2_Silent_p.T604T|STRA6_uc010bji.2_Silent_p.T565T|STRA6_uc002axl.2_Silent_p.T497T|STRA6_uc002axm.2_Silent_p.T565T|STRA6_uc002axn.2_Silent_p.T556T|STRA6_uc010uli.1_Silent_p.T602T	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid gene 6 homolog	565	Cytoplasmic (Potential).				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			central_nervous_system(1)	1						AGTTTCGGTACGTGTAGTAGC	0.597000												
SEMA7A	8482	broad.mit.edu	37	15	74703166	74703166	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:74703166G>A	uc002axv.2	-	14	1840	c.1800C>T	c.(1798-1800)ATC>ATT	p.I600I	SEMA7A_uc010ulk.1_Silent_p.I435I|SEMA7A_uc010ull.1_Silent_p.I586I	NM_003612	NP_003603	O75326	SEM7A_HUMAN	semaphorin 7A isoform 1 preproprotein	600	Ig-like C2-type.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(1)|central_nervous_system(1)	2						TGAGGTTCTCGATGAACAGGA	0.637000												
ULK3	25989	broad.mit.edu	37	15	75131045	75131045	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:75131045G>A	uc010bkf.1	-	10	1147	c.1041C>T	c.(1039-1041)ATC>ATT	p.I347I	ULK3_uc010ulp.1_Silent_p.I257I|ULK3_uc010ulq.1_Silent_p.I358I|ULK3_uc010ulr.1_Silent_p.I230I|ULK3_uc002ayv.2_Silent_p.I347I|ULK3_uc010uls.1_Silent_p.I230I	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51-like kinase 3	347	MIT 1.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						AAGAGGAGACGATGGCCTTGA	0.647000												
NRG4	145957	broad.mit.edu	37	15	76254214	76254214	+	Missense_Mutation	SNP	G	G	A	rs143118805		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:76254214G>A	uc002bbo.2	-	4	390	c.206C>T	c.(205-207)GCG>GTG	p.A69V	NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	neuregulin 4	69	Helical; Note=Internal signal sequence; (Potential).					extracellular region|integral to membrane|plasma membrane	growth factor activity				0						TACTAGGACCGCCAATGCCAC	0.393000												
CRABP1	1381	broad.mit.edu	37	15	78633490	78633490	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:78633490T>C	uc002bdp.2	+	2	281	c.176T>C	c.(175-177)GTG>GCG	p.V59A		NM_004378	NP_004369	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	59					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity				0					Alitretinoin(DB00523)|Etretinate(DB00926)	TCCACCACGGTGCGCACCACT	0.607000												
ADAMTS7	11173	broad.mit.edu	37	15	79063576	79063576	+	Missense_Mutation	SNP	C	C	T	rs3825828		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:79063576C>T	uc002bej.3	-	16	2657	c.2446G>A	c.(2446-2448)GAC>AAC	p.D816N	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	816					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						GGGACCTCGTCGTGGCCACCT	0.662000												
CTSH	1512	broad.mit.edu	37	15	79224792	79224792	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:79224792G>A	uc002ben.2	-	7	475	c.378C>T	c.(376-378)TGC>TGT	p.C126C	CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron	NM_148979	NP_683880	P09668	CATH_HUMAN	cathepsin H isoform b precursor	138					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity	p.G126R(1)		central_nervous_system(2)|large_intestine(1)	3						AGCAACTGCCGCAGGCACCCT	0.612000												
RASGRF1	5923	broad.mit.edu	37	15	79341903	79341903	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:79341903G>A	uc002beq.2	-	4	934	c.559C>T	c.(559-561)CGC>TGC	p.R187C	RASGRF1_uc002bep.2_Missense_Mutation_p.R187C|RASGRF1_uc010blm.1_Missense_Mutation_p.R109C|RASGRF1_uc002ber.3_Missense_Mutation_p.R187C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	187					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GACTGGATGCGCTCATTGTCC	0.572000												
ARNT2	9915	broad.mit.edu	37	15	80762578	80762578	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:80762578G>A	uc002bfr.2	+	4	380	c.214G>A	c.(214-216)GAA>AAA	p.E72K	ARNT2_uc002bfq.2_Missense_Mutation_p.E72K|ARNT2_uc010unm.1_Missense_Mutation_p.E61K|ARNT2_uc002bfs.2_Missense_Mutation_p.E61K	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	72	Basic motif.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			TAGTGAAATCGAAAGGCGCAG	0.483000												
FAM154B	283726	broad.mit.edu	37	15	82575092	82575092	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:82575092C>T	uc002bgv.2	+	3	955	c.886C>T	c.(886-888)CGT>TGT	p.R296C	FAM154B_uc010unr.1_Missense_Mutation_p.R281C|FAM154B_uc010uns.1_RNA	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	hypothetical protein LOC283726	296										skin(2)	2						GGAAAGTTGTCGTCAAGGACT	0.393000												
HDGFRP3	50810	broad.mit.edu	37	15	83826184	83826184	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:83826184T>C	uc002bjs.1	-	4	597	c.442A>G	c.(442-444)AAG>GAG	p.K148E		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	148	Nuclear localization signal (Potential).				cell proliferation	nucleus	growth factor activity				0						GTATATGACTTTTTCCGTTTT	0.323000												
BNC1	646	broad.mit.edu	37	15	83932743	83932743	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:83932743A>G	uc002bjt.1	-	4	1348	c.1260T>C	c.(1258-1260)AAT>AAC	p.N420N	BNC1_uc010uos.1_Silent_p.N408N	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	420					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						TGTCCCGGTTATTTCTGTTCA	0.562000												
ADAMTSL3	57188	broad.mit.edu	37	15	84553863	84553863	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:84553863C>T	uc002bjz.3	+	10	1195	c.971C>T	c.(970-972)ACT>ATT	p.T324I	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T324I|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T324I	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	324						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCAGGTACACTGCAGCCAAA	0.453000												
ADAMTSL3	57188	broad.mit.edu	37	15	84652067	84652067	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:84652067G>T	uc002bjz.3	+	21	3911	c.3687G>T	c.(3685-3687)AAG>AAT	p.K1229N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.K1229N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K1229N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1229	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATGGACCAAGGATGGAACCT	0.373000												
KLHL25	64410	broad.mit.edu	37	15	86311474	86311474	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:86311474T>A	uc002bly.2	-	2	1771	c.1568A>T	c.(1567-1569)GAC>GTC	p.D523V		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	523	Kelch 5.					cytoplasm				ovary(2)	2						GGCAGTCATGTCCCCAATCCG	0.592000												
NTRK3	4916	broad.mit.edu	37	15	88799238	88799238	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:88799238G>A	uc002bme.1	-	2	309	c.147C>T	c.(145-147)GAC>GAT	p.D49D	NTRK3_uc002bmh.2_Silent_p.D49D|NTRK3_uc002bmf.1_Silent_p.D49D|NTRK3_uc010bnh.1_Silent_p.D49D|NTRK3_uc002bmg.2_Silent_p.D49D	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	49	Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTTCCCATCGTCCGGCCGCC	0.557000			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)		
MRPL46	26589	broad.mit.edu	37	15	89007941	89007941	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:89007941T>C	uc002bmj.2	-	3	607	c.582A>G	c.(580-582)ACA>ACG	p.T194T	MRPL46_uc002bmi.1_Silent_p.T72T|MRPL46_uc002bmk.2_Silent_p.T193T|MRPS11_uc002bmm.2_5'Flank|MRPS11_uc002bml.2_5'Flank|MRPS11_uc002bmn.2_5'Flank|MRPS11_uc010bnj.2_5'Flank	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46 precursor	194						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)	1	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCTGAGAGTGTGGCCAGGG	0.517000												
ACAN	176	broad.mit.edu	37	15	89417219	89417219	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:89417219G>A	uc010upo.1	+	17	7854	c.7480G>A	c.(7480-7482)GGG>AGG	p.G2494R	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2494					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCAGCCCAGCGGGCACTGGGA	0.622000												
PEX11A	8800	broad.mit.edu	37	15	90226757	90226757	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:90226757C>T	uc002boi.2	-	3	690	c.595G>A	c.(595-597)GTG>ATG	p.V199M	PEX11A_uc010upy.1_RNA	NM_003847	NP_003838	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	199	Lumenal (Potential).				cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane					0	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGTTCTTCACTGTGTCCAGG	0.478000												
ANPEP	290	broad.mit.edu	37	15	90334189	90334189	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:90334189A>T	uc002bop.3	-	19	2956	c.2664T>A	c.(2662-2664)TTT>TTA	p.F888L		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	888	Extracellular.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTCACTCGTTAAAAAGCTTCT	0.597000												
IGF1R	3480	broad.mit.edu	37	15	99251014	99251014	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:99251014C>A	uc002bul.2	+	2	368	c.318C>A	c.(316-318)ATC>ATA	p.I106I	IGF1R_uc010urq.1_Silent_p.I106I|IGF1R_uc010bon.2_Silent_p.I106I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	106					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCACGGTCATCCGCGGCTGGA	0.557000												
TM2D3	80213	broad.mit.edu	37	15	102182721	102182721	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:102182721A>G	uc002bxi.2	-	6	735	c.705T>C	c.(703-705)GTT>GTC	p.V235V	TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_Silent_p.V170V|TM2D3_uc002bxj.2_Silent_p.V209V|TM2D3_uc002bxk.2_Silent_p.V170V	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	235	Helical; (Potential).					integral to membrane				ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAACATAGCCAACTCCAATGA	0.532000												
WFIKKN1	117166	broad.mit.edu	37	16	682653	682653	+	Silent	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:682653C>G	uc002cht.1	+	2	485	c.243C>G	c.(241-243)CCC>CCG	p.P81P	WFIKKN1_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz	81						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity				0		Hepatocellular(780;0.00335)				CACGCTTCCCCGGCAGCCCAG	0.677000												
RHBDL1	9028	broad.mit.edu	37	16	727109	727109	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:727109A>G	uc002cis.1	+	3	787	c.760A>G	c.(760-762)ATG>GTG	p.M254V	RHBDL1_uc002cir.1_Missense_Mutation_p.M189V|RHBDL1_uc010uun.1_Missense_Mutation_p.M189V	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	254					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				CTACATGTTCATGCACGTTGG	0.627000												
CHTF18	63922	broad.mit.edu	37	16	840648	840648	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:840648G>A	uc002cke.3	+	7	939	c.876G>A	c.(874-876)ACG>ACA	p.T292T	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Silent_p.T320T|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	292					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)				GCCACTACACGGAGCTGCTCA	0.592000												
TBL3	10607	broad.mit.edu	37	16	2024271	2024271	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2024271C>T	uc002cnu.1	+	3	269	c.167C>T	c.(166-168)GCC>GTC	p.A56V	TBL3_uc002cnv.1_5'UTR|TBL3_uc010bsb.1_5'Flank|TBL3_uc010bsc.1_5'Flank|TBL3_uc010uvt.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	56					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						GCCTCGGGGGCCGTGCTGCGG	0.647000												
ZNF598	90850	broad.mit.edu	37	16	2052542	2052542	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2052542G>A	uc002cof.1	-	6	672	c.657C>T	c.(655-657)GAC>GAT	p.D219D	ZNF598_uc002coe.1_5'Flank	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	219						intracellular	zinc ion binding			lung(1)|breast(1)	2						CCTGGGCCCCGTCCGAGTCGC	0.642000												
TSC2	7249	broad.mit.edu	37	16	2110688	2110688	+	Silent	SNP	C	C	T	rs45517153		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2110688C>T	uc002con.2	+	11	1099	c.993C>T	c.(991-993)AAC>AAT	p.N331N	TSC2_uc010bsd.2_Silent_p.N331N|TSC2_uc002coo.2_Silent_p.N331N|TSC2_uc010uvv.1_Silent_p.N294N|TSC2_uc010uvw.1_Silent_p.N282N|TSC2_uc002cop.2_Silent_p.N131N	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	331	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CATGTCCGAACGAGGTGGTGT	0.592000			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
PKD1	5310	broad.mit.edu	37	16	2139858	2139858	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2139858C>T	uc002cos.1	-	46	12991	c.12782G>A	c.(12781-12783)GGC>GAC	p.G4261D	PKD1_uc002cot.1_Missense_Mutation_p.G4260D	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	4261	Cytoplasmic (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						CGGGGATGGGCCACGGGAAGA	0.731000												
PKD1	5310	broad.mit.edu	37	16	2161747	2161747	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2161747C>T	uc002cos.1	-	15	3630	c.3421G>A	c.(3421-3423)GGC>AGC	p.G1141S	PKD1_uc002cot.1_Missense_Mutation_p.G1141S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1141	PKD 6.|Extracellular (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						ACGGGCCGGCCGGCCACCAGG	0.677000												
CASKIN1	57524	broad.mit.edu	37	16	2239534	2239534	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2239534C>A	uc010bsg.1	-	4	308	c.276G>T	c.(274-276)CAG>CAT	p.Q92H		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	92	ANK 2.				signal transduction	cytoplasm				skin(2)	2						CCTTCCGGCCCTGCCAGGCCG	0.687000												
ATP6V0C	527	broad.mit.edu	37	16	2569560	2569560	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:2569560C>T	uc002cqn.2	+	3	434	c.282C>T	c.(280-282)GGC>GGT	p.G94G	TBC1D24_uc002cqm.2_3'UTR|ATP6V0C_uc002cqo.2_Silent_p.G51G|AMDHD2_uc002cqp.2_5'Flank|AMDHD2_uc002cqq.2_5'Flank|AMDHD2_uc010uwc.1_5'Flank|AMDHD2_uc010uwd.1_5'Flank	NM_001694	NP_001685	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal, V0 subunit	94	Helical; (Potential).				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			ovary(1)	1		Ovarian(90;0.17)				TCCAGCTGGGCGCCGGCCTGA	0.697000												
KREMEN2	79412	broad.mit.edu	37	16	3014884	3014884	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3014884A>G	uc002csg.2	+	2	424	c.119A>G	c.(118-120)AAT>AGT	p.N40S	KREMEN2_uc010bsw.1_Missense_Mutation_p.N40S|KREMEN2_uc002csh.2_Missense_Mutation_p.N40S|KREMEN2_uc010uwl.1_Missense_Mutation_p.N40S|KREMEN2_uc010bsx.2_Missense_Mutation_p.N40S|KREMEN2_uc002csi.2_Missense_Mutation_p.N40S	NM_172229	NP_757384	Q8NCW0	KREM2_HUMAN	kringle-containing transmembrane protein 2	40	Extracellular (Potential).|Kringle.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)	2						TTCCAGGTGAATGGGGCTGAC	0.597000												
PAQR4	124222	broad.mit.edu	37	16	3021678	3021678	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3021678G>A	uc002csj.3	+	3	885	c.551G>A	c.(550-552)CGC>CAC	p.R184H	PAQR4_uc002csk.3_Missense_Mutation_p.R145H|PAQR4_uc002csl.3_Missense_Mutation_p.R110H|PAQR4_uc010uwm.1_Missense_Mutation_p.R115H	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	184						integral to membrane	receptor activity				0						GCTGCTGCCCGCCTACTGGTA	0.687000												
CLDN6	9074	broad.mit.edu	37	16	3065512	3065512	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3065512A>G	uc002csu.3	-	2	571	c.511T>C	c.(511-513)TCA>CCA	p.S171P		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	171	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						AAAAGGCCTGAGGCCGCCCAG	0.657000												
MMP25	64386	broad.mit.edu	37	16	3100442	3100442	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3100442G>A	uc002cth.2	+	4	793	c.556G>A	c.(556-558)GAC>AAC	p.D186N	MMP25_uc002cti.1_Missense_Mutation_p.D122N	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	186					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						CTACCCCTTCGACGGGTTGGG	0.622000												
ZNF263	10127	broad.mit.edu	37	16	3339723	3339723	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3339723G>A	uc002cuq.2	+	6	1549	c.1217G>A	c.(1216-1218)TGT>TAT	p.C406Y	ZNF263_uc010uww.1_Missense_Mutation_p.C54Y|ZNF263_uc002cur.2_Missense_Mutation_p.C54Y	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	406					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4						GAAAGACTGTGTATGGGTGTG	0.468000												
NLRC3	197358	broad.mit.edu	37	16	3604310	3604310	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3604310C>T	uc010btn.2	-	9	2611	c.2200G>A	c.(2200-2202)GTT>ATT	p.V734I	NLRC3_uc010bto.1_5'UTR	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	734	LRR 5.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						TCATCCCTAACGGTGTTGCCC	0.592000												
BTBD12	84464	broad.mit.edu	37	16	3640169	3640169	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3640169G>A	uc002cvp.2	-	12	4097	c.3470C>T	c.(3469-3471)TCG>TTG	p.S1157L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1157	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						CTCCTCATCCGAGTCCAGTAA	0.443000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
TRAP1	10131	broad.mit.edu	37	16	3725375	3725375	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:3725375A>G	uc002cvt.3	-	8	927	c.838T>C	c.(838-840)TTC>CTC	p.F280L	TRAP1_uc002cvs.2_Missense_Mutation_p.F71L|TRAP1_uc010uxf.1_Missense_Mutation_p.F227L	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	280					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				AAGCTGACGAAGTTGCTGTAC	0.488000												
DNAJA3	9093	broad.mit.edu	37	16	4504853	4504853	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:4504853C>T	uc002cwk.2	+	11	1406	c.1381C>T	c.(1381-1383)CGT>TGT	p.R461C	DNAJA3_uc002cwl.2_Intron|DNAJA3_uc010uxk.1_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	461					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			ovary(2)|breast(2)	4						CAAGGCTAGGCGTGAGGCTGG	0.527000												
PPL	5493	broad.mit.edu	37	16	4934378	4934378	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:4934378C>T	uc002cyd.1	-	22	4368	c.4278G>A	c.(4276-4278)CGG>CGA	p.R1426R		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1426	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						GCGCTGCCAGCCGCTGCTGCA	0.692000												
PPL	5493	broad.mit.edu	37	16	4935262	4935262	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:4935262C>T	uc002cyd.1	-	22	3484	c.3394G>A	c.(3394-3396)GAT>AAT	p.D1132N		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1132	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						CGGGTGAGATCGCTGACCTCC	0.617000												
ALG1	56052	broad.mit.edu	37	16	5125455	5125455	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:5125455G>A	uc002cym.2	+	4	498	c.457G>A	c.(457-459)GTC>ATC	p.V153I	ALG1_uc002cyj.2_Missense_Mutation_p.V42I|ALG1_uc002cyn.2_Missense_Mutation_p.V153I|ALG1_uc010bue.2_Missense_Mutation_p.V42I|ALG1_uc010uxy.1_Missense_Mutation_p.V42I	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	153	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				AAGCAAGCTCGTCATTGACTG	0.552000												
A2BP1	54715	broad.mit.edu	37	16	7568246	7568246	+	Missense_Mutation	SNP	C	C	T	rs146499343		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:7568246C>T	uc002cys.2	+	5	1113	c.125C>T	c.(124-126)ACG>ATG	p.T42M	A2BP1_uc010buf.1_Missense_Mutation_p.T42M|A2BP1_uc002cyr.1_Missense_Mutation_p.T42M|A2BP1_uc002cyt.2_Missense_Mutation_p.T42M|A2BP1_uc010uxz.1_Missense_Mutation_p.T85M|A2BP1_uc010uya.1_Missense_Mutation_p.T78M|A2BP1_uc002cyv.1_Missense_Mutation_p.T42M|A2BP1_uc010uyb.1_Missense_Mutation_p.T42M|A2BP1_uc002cyw.2_Missense_Mutation_p.T62M|A2BP1_uc002cyy.2_Missense_Mutation_p.T62M|A2BP1_uc002cyx.2_Missense_Mutation_p.T62M|A2BP1_uc010uyc.1_Missense_Mutation_p.T62M	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	42					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		GCGGAATACACGGCCCCTCAT	0.637000												
GRIN2A	2903	broad.mit.edu	37	16	9857724	9857724	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:9857724C>T	uc002czo.3	-	13	4225	c.3677G>A	c.(3676-3678)GGC>GAC	p.G1226D	GRIN2A_uc010uym.1_Missense_Mutation_p.G1226D|GRIN2A_uc010uyn.1_Missense_Mutation_p.G1069D|GRIN2A_uc002czr.3_Missense_Mutation_p.G1226D	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1226	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTGAAGTGGCCTGAATAGGT	0.557000												
GRIN2A	2903	broad.mit.edu	37	16	9862852	9862852	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:9862852C>A	uc002czo.3	-	12	2999	c.2451G>T	c.(2449-2451)ATG>ATT	p.M817I	GRIN2A_uc010uym.1_Missense_Mutation_p.M817I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M660I|GRIN2A_uc002czr.3_Missense_Mutation_p.M817I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	817	Helical; (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATACGCCCGCCATGTTGTCAA	0.572000												
EMP2	2013	broad.mit.edu	37	16	10631922	10631922	+	Missense_Mutation	SNP	G	G	A	rs143507341	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:10631922G>A	uc002czx.2	-	4	373	c.179C>T	c.(178-180)ACG>ATG	p.T60M		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	60					cell proliferation	integral to membrane					0						CGCCTGCAGCGTGGAGTACTC	0.627000												
TXNDC11	51061	broad.mit.edu	37	16	11773401	11773401	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:11773401G>A	uc010buu.1	-	13	2670	c.2608C>T	c.(2608-2610)CGG>TGG	p.R870W	TXNDC11_uc002dbg.1_Missense_Mutation_p.R843W	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	870	Potential.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TCCAGGGCCCGCTGCTGCTGC	0.632000												
SNX29	92017	broad.mit.edu	37	16	12371842	12371842	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:12371842G>A	uc002dby.3	+	8	632	c.576G>A	c.(574-576)CCG>CCA	p.P192P		NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	192					cell communication		phosphatidylinositol binding			ovary(1)	1						AACAGAAGCCGGGAGAAATTG	0.433000												
MYH11	4629	broad.mit.edu	37	16	15835670	15835670	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:15835670G>A	uc002ddy.2	-	21	2706	c.2599C>T	c.(2599-2601)CGG>TGG	p.R867W	MYH11_uc002ddv.2_Missense_Mutation_p.R874W|MYH11_uc002ddw.2_Missense_Mutation_p.R867W|MYH11_uc002ddx.2_Missense_Mutation_p.R874W|MYH11_uc010bvg.2_Missense_Mutation_p.R699W	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	867	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TTCTGCTGCCGCTCCTTGGTC	0.577000			T	CBFB	AML							
POLR3E	55718	broad.mit.edu	37	16	22328529	22328529	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:22328529T>C	uc002dkk.2	+	12	1021	c.865_splice	c.e12+2	p.V289_splice	POLR3E_uc002dkj.1_Splice_Site_p.V289_splice|POLR3E_uc002dkm.2_Splice_Site_p.V253_splice|POLR3E_uc010vbr.1_Splice_Site_p.V289_splice|POLR3E_uc002dkl.2_Splice_Site_p.V289_splice|POLR3E_uc010vbs.1_Splice_Site_p.V253_splice|POLR3E_uc010vbt.1_Splice_Site_p.V233_splice	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E						innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		TGAAGAATGGTGGGTGCCTAC	0.652000												
POLR3E	55718	broad.mit.edu	37	16	22335726	22335726	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:22335726G>A	uc002dkk.2	+	15	1276	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	POLR3E_uc002dkj.1_Missense_Mutation_p.V374M|POLR3E_uc002dkm.2_Missense_Mutation_p.V338M|POLR3E_uc010vbr.1_Missense_Mutation_p.V374M|POLR3E_uc002dkl.2_Missense_Mutation_p.V374M|POLR3E_uc010vbs.1_Missense_Mutation_p.V338M|POLR3E_uc010vbt.1_Missense_Mutation_p.V318M	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	374					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.012)		GGTGGCAACCGTGACCAAAGT	0.637000												
HS3ST2	9956	broad.mit.edu	37	16	22926383	22926383	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:22926383G>A	uc002dli.2	+	2	676	c.604G>A	c.(604-606)GTG>ATG	p.V202M	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	202	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CAAGCTGATCGTGGTTGTGCG	0.572000												
GTF3C1	2975	broad.mit.edu	37	16	27475894	27475894	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:27475894G>A	uc002dov.1	-	34	5659	c.5619C>T	c.(5617-5619)ACC>ACT	p.T1873T	GTF3C1_uc002dou.2_Silent_p.T1873T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1873						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCTCGGCGTCGGTCTCCCCAT	0.682000												
GTF3C1	2975	broad.mit.edu	37	16	27500445	27500445	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:27500445G>A	uc002dov.1	-	21	3388	c.3348C>T	c.(3346-3348)GCC>GCT	p.A1116A	GTF3C1_uc002dou.2_Silent_p.A1116A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1116						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CGAGCCCTGCGGCACCCAGCC	0.547000												
KIAA0556	23247	broad.mit.edu	37	16	27629746	27629746	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:27629746G>T	uc002dow.2	+	3	88	c.64G>T	c.(64-66)GGT>TGT	p.G22C		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	22										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TTCATTTCAGGGTTACGCTAA	0.507000												
XPO6	23214	broad.mit.edu	37	16	28137068	28137068	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28137068A>G	uc002dpa.1	-	13	2209	c.1708T>C	c.(1708-1710)TAC>CAC	p.Y570H	XPO6_uc002dpb.1_Missense_Mutation_p.Y556H|XPO6_uc010vcp.1_Missense_Mutation_p.Y570H	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	570					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						CCGATAAAGTACTCGGCCAGG	0.582000												
APOB48R	55911	broad.mit.edu	37	16	28507727	28507727	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28507727A>G	uc002dqb.1	+	3	1348	c.1338A>G	c.(1336-1338)GCA>GCG	p.A446A	uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	446	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						GCCAGGAGGCAGGGGAGAGCT	0.637000												
SULT1A1	6817	broad.mit.edu	37	16	28620148	28620148	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28620148G>A	uc002dqi.2	-	1	502	c.29C>T	c.(28-30)CCG>CTG	p.P10L	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqk.2_Missense_Mutation_p.P10L|SULT1A1_uc002dql.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.P101L|SULT1A1_uc002dqo.2_Missense_Mutation_p.P10L|SULT1A1_uc002dqp.2_Missense_Mutation_p.P10L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						CTCCAGTGGCGGGCGGGAGGT	0.602000												
ATXN2L	11273	broad.mit.edu	37	16	28846700	28846700	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28846700G>A	uc002drc.2	+	20	2833	c.2665G>A	c.(2665-2667)GCG>ACG	p.A889T	uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A889T|ATXN2L_uc002dqy.2_Missense_Mutation_p.A889T|ATXN2L_uc002dra.2_Missense_Mutation_p.A889T|ATXN2L_uc002dqz.2_Missense_Mutation_p.A889T|ATXN2L_uc010vdb.1_Missense_Mutation_p.A895T|ATXN2L_uc002dre.2_Missense_Mutation_p.A889T|ATXN2L_uc002drf.2_Missense_Mutation_p.A298T|ATXN2L_uc002drg.2_Missense_Mutation_p.A171T	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	889						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GTCCCAGCATGCGGCCCCCAG	0.637000												
GDPD3	79153	broad.mit.edu	37	16	30124700	30124700	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:30124700C>T	uc002dwp.2	-	1	179	c.100G>A	c.(100-102)GCT>ACT	p.A34T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_5'UTR|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	34	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						AAGGTGGGAGCCCTGGGCGTG	0.637000												
HSD3B7	80270	broad.mit.edu	37	16	30997840	30997840	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:30997840A>G	uc002eaf.2	+	4	525	c.419A>G	c.(418-420)CAC>CGC	p.H140R	HSD3B7_uc010cac.2_Missense_Mutation_p.H140R|HSD3B7_uc002eag.2_Missense_Mutation_p.H140R|HSD3B7_uc002eah.2_Missense_Mutation_p.H140R	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta-	140					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity				0						ACCAAAGGTCACCCCTTCTAC	0.572000												
TRIM72	493829	broad.mit.edu	37	16	31236013	31236013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:31236013G>A	uc002ebn.1	+	7	1600	c.1371G>A	c.(1369-1371)TGG>TGA	p.W457*	uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	457	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						ACGTGTGCTGGCACGACAAGG	0.697000												
ITGAD	3681	broad.mit.edu	37	16	31422077	31422077	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:31422077C>A	uc002ebv.1	+	12	1283	c.1234C>A	c.(1234-1236)CTG>ATG	p.L412M	ITGAD_uc010cap.1_Missense_Mutation_p.L412M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	412	FG-GAP 4.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						CGAGCTAGCCCTGTGGAAGGG	0.657000												
SIAH1	6477	broad.mit.edu	37	16	48396331	48396331	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:48396331A>G	uc002efo.1	-	2	126	c.9T>C	c.(7-9)CGT>CGC	p.R3R	uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Silent_p.R34R	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	seven in absentia homolog 1 isoform a	3					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TAGCAGTCTGACGGCTCATTT	0.423000												
LPCAT2	54947	broad.mit.edu	37	16	55613034	55613034	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:55613034A>G	uc002eie.3	+	13	1509	c.1328A>G	c.(1327-1329)GAT>GGT	p.D443G	LPCAT2_uc002eic.2_Missense_Mutation_p.D173G	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	443	2 (Potential).|EF-hand 2.|Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						TTTGACGTTGATGAGGATGGC	0.403000												
SLC6A2	6530	broad.mit.edu	37	16	55690802	55690802	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:55690802C>A	uc002eif.2	+	2	307	c.196C>A	c.(196-198)CTG>ATG	p.L66M	SLC6A2_uc010ccd.2_Missense_Mutation_p.L66M|SLC6A2_uc002eig.2_Missense_Mutation_p.L66M|SLC6A2_uc002eih.2_Missense_Mutation_p.L66M	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	66	Helical; Name=1; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GATCGACTTCCTGCTGTCCGT	0.692000												
BBS2	583	broad.mit.edu	37	16	56553706	56553706	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:56553706G>T	uc002ejd.2	-	1	303	c.69C>A	c.(67-69)CGC>CGA	p.R23R	BBS2_uc010ccg.2_Silent_p.R23R	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2 protein	23			R -> P (in BBS2).		adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1						TCCCGTCGTAGCGCCCTATGG	0.667000									Bardet-Biedl_syndrome			
MT1B	4490	broad.mit.edu	37	16	56686928	56686928	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:56686928A>G	uc002ejs.2	+	3	192	c.137A>G	c.(136-138)CAG>CGG	p.Q46R		NM_005947	NP_005938	P07438	MT1B_HUMAN	metallothionein 1B	46	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding				0						AAGTGTGCCCAGGGCTGTGTC	0.577000												
KIFC3	3801	broad.mit.edu	37	16	57800794	57800794	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:57800794C>A	uc002emp.2	-	10	1519	c.1322G>T	c.(1321-1323)CGG>CTG	p.R441L	KIFC3_uc010vhw.1_Missense_Mutation_p.R339L|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.R302L|KIFC3_uc010vhx.1_Missense_Mutation_p.R302L|KIFC3_uc010cdf.2_Missense_Mutation_p.R302L|KIFC3_uc002emo.3_Missense_Mutation_p.R302L|KIFC3_uc010vhy.1_Missense_Mutation_p.R383L|KIFC3_uc002emq.2_Missense_Mutation_p.R441L|KIFC3_uc010vhz.1_Missense_Mutation_p.R463L|KIFC3_uc002emr.1_Missense_Mutation_p.R218L	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	441					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)				ACCTTTCAGCCGCACGAGCTC	0.627000												
PRSS54	221191	broad.mit.edu	37	16	58314246	58314246	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:58314246T>C	uc002enf.2	-	7	1465	c.1070A>G	c.(1069-1071)GAC>GGC	p.D357G	PRSS54_uc002eng.2_Missense_Mutation_p.D357G|PRSS54_uc010vie.1_Missense_Mutation_p.D258G|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	357					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACCGTAATAGTCATAGTATAA	0.468000												
C16orf70	80262	broad.mit.edu	37	16	67179283	67179283	+	Silent	SNP	C	C	T	rs111855351		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67179283C>T	uc002erc.2	+	14	1095	c.1011C>T	c.(1009-1011)AAC>AAT	p.N337N	C16orf70_uc002erd.2_Silent_p.N337N	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	lin-10	337										ovary(2)	2		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTTCAGAAAACGCAGATGGTC	0.547000												
HSF4	3299	broad.mit.edu	37	16	67199736	67199736	+	Missense_Mutation	SNP	G	G	A	rs79121622		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67199736G>A	uc002erl.1	+	5	1312	c.347G>A	c.(346-348)CGC>CAC	p.R116H	HSF4_uc002erm.1_Missense_Mutation_p.R116H|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	116	By similarity.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTACTGGAGCGCGTGCGGCGC	0.706000												
ELMO3	79767	broad.mit.edu	37	16	67233097	67233097	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67233097C>T	uc002esa.2	+	1	70	c.27C>T	c.(25-27)CGC>CGT	p.R9R	ELMO3_uc002esb.2_Silent_p.R9R|ELMO3_uc002esc.2_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	Error:Variant_position_missing_in_Q96BJ8_after_alignment					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GTCTGGGCCGCGAGTGCGGGA	0.687000												
LRRC29	26231	broad.mit.edu	37	16	67242270	67242270	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67242270A>C	uc002esd.2	-	2	1127	c.230T>G	c.(229-231)CTG>CGG	p.L77R	LRRC29_uc002ese.2_Missense_Mutation_p.L77R|LRRC29_uc002esf.2_Missense_Mutation_p.L77R|LRRC29_uc002esg.2_Missense_Mutation_p.L77R	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	F-box and leucine-rich repeat protein 9	77	LRR 2.										0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAACTCCTGCAGGGCCCGCAG	0.642000												
SLC9A5	6553	broad.mit.edu	37	16	67290433	67290433	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67290433C>T	uc002esm.2	+	6	1036	c.973C>T	c.(973-975)CGC>TGC	p.R325C	SLC9A5_uc010cee.2_Missense_Mutation_p.R30C|SLC9A5_uc010vji.1_Translation_Start_Site	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	solute carrier family 9 (sodium/hydrogen	325					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			ovary(1)|pancreas(1)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCATAAGTCACGCACAACTGT	0.532000												
NFAT5	10725	broad.mit.edu	37	16	69726329	69726329	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:69726329A>C	uc002exm.1	+	12	3755	c.2547A>C	c.(2545-2547)ACA>ACC	p.T849T	NFAT5_uc002exi.2_Silent_p.T773T|NFAT5_uc002exj.1_Silent_p.T773T|NFAT5_uc002exk.1_Silent_p.T773T|NFAT5_uc002exl.1_Silent_p.T867T|NFAT5_uc002exn.1_Silent_p.T866T|NFAT5_uc002exo.1_5'Flank	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	849					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTTCCTCAACAGAGCCAACAG	0.373000												
SF3B3	23450	broad.mit.edu	37	16	70563046	70563046	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:70563046G>A	uc002ezf.2	+	3	552	c.341G>A	c.(340-342)CGC>CAC	p.R114H	SNORD111B_uc010cfv.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	114					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				GGATGCCGTCGCATCGTTCCT	0.438000												
SF3B3	23450	broad.mit.edu	37	16	70599269	70599269	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:70599269A>G	uc002ezf.2	+	20	2881	c.2670_splice	c.e20-2	p.S890_splice		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3						protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)				TTCTGTGTGTAGTGTGGCTGT	0.527000												
HYDIN	54768	broad.mit.edu	37	16	71019097	71019097	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:71019097C>T	uc002ezr.2	-	28	4448	c.4320G>A	c.(4318-4320)CTG>CTA	p.L1440L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	1441										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CAGACACAGGCAGGATTAGTG	0.512000												
CHST6	4166	broad.mit.edu	37	16	75512546	75512546	+	Missense_Mutation	SNP	C	C	T	rs139042144	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:75512546C>T	uc002fef.2	-	3	1361	c.1181G>A	c.(1180-1182)CGA>CAA	p.R394Q	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R394Q	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	394	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						CCACTAATTTCGGGGGTGCGA	0.627000												
CDYL2	124359	broad.mit.edu	37	16	80654800	80654800	+	Silent	SNP	G	G	A	rs145308954		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:80654800G>A	uc002ffs.2	-	4	972	c.867C>T	c.(865-867)AAC>AAT	p.N289N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	289						nucleus	catalytic activity|protein binding			central_nervous_system(1)	1						CTGTGGCTGCGTTGCAGAGCG	0.562000												
CDH13	1012	broad.mit.edu	37	16	83711897	83711897	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:83711897G>A	uc002fgx.2	+	10	1489	c.1369G>A	c.(1369-1371)GGC>AGC	p.G457S	CDH13_uc010vns.1_Missense_Mutation_p.G504S|CDH13_uc010vnt.1_Missense_Mutation_p.G203S|CDH13_uc010vnu.1_Missense_Mutation_p.G418S	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	457	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGTCTCCTACGGCCCCAGCTC	0.557000												
SLC38A8	146167	broad.mit.edu	37	16	84043399	84043399	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:84043399T>C	uc002fhg.1	-	10	1298	c.1298A>G	c.(1297-1299)GAG>GGG	p.E433G		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	433					amino acid transport|sodium ion transport	integral to membrane					0						TCAGAACATCTCCCAGACCGC	0.617000												
TAF1C	9013	broad.mit.edu	37	16	84213641	84213641	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:84213641G>T	uc002fhn.2	-	13	1838	c.1610C>A	c.(1609-1611)CCT>CAT	p.P537H	TAF1C_uc002fhm.2_Missense_Mutation_p.P443H|TAF1C_uc010vnx.1_Missense_Mutation_p.P511H|TAF1C_uc010vny.1_Missense_Mutation_p.P128H|TAF1C_uc010vnz.1_Missense_Mutation_p.P205H|TAF1C_uc002fho.2_Missense_Mutation_p.P60H|TAF1C_uc010voa.1_Missense_Mutation_p.P205H|TAF1C_uc002fhp.1_Intron	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	537					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						GATCCTGGAAGGAAGAGACTG	0.657000												
KLHL36	79786	broad.mit.edu	37	16	84690728	84690728	+	Silent	SNP	C	C	T	rs143590033		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:84690728C>T	uc002fig.2	+	3	456	c.315C>T	c.(313-315)TAC>TAT	p.Y105Y	KLHL36_uc010chl.2_Silent_p.Y104Y	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	kelch-like 36	105	BTB.									skin(2)	2						ACTTCCTGTACGGCGGGGAGC	0.597000												
IRF8	3394	broad.mit.edu	37	16	85953745	85953745	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:85953745G>A	uc002fjh.2	+	8	1076	c.1019G>A	c.(1018-1020)CGG>CAG	p.R340Q	IRF8_uc010chp.2_RNA	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	340					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				AGCCAGGGCCGGCTTCCTGAC	0.587000												
JPH3	57338	broad.mit.edu	37	16	87678349	87678349	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:87678349G>T	uc002fkd.2	+	2	1122	c.868G>T	c.(868-870)GGC>TGC	p.G290C	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	290	Cytoplasmic (Potential).|MORN 7.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GACCTACGTGGGCGAGTGGAA	0.672000												
SNAI3	333929	broad.mit.edu	37	16	88744962	88744962	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:88744962G>A	uc002flj.2	-	3	841	c.773C>T	c.(772-774)ACG>ATG	p.T258M	MGC23284_uc002fli.3_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	snail homolog 3	258	C2H2-type 4.				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.048)		GTCTGAGTGCGTTTGCAGATG	0.672000												
SPG7	6687	broad.mit.edu	37	16	89598458	89598458	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:89598458C>T	uc002fnj.2	+	8	1155	c.1134C>T	c.(1132-1134)TTC>TTT	p.F378F	SPG7_uc002fni.2_Silent_p.F378F	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	378	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCCCAGAGTTCGTGGAGGTCA	0.657000												
SPIRE2	84501	broad.mit.edu	37	16	89936599	89936599	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:89936599C>T	uc002foz.1	+	15	2116	c.2064C>T	c.(2062-2064)GAC>GAT	p.D688D	SPIRE2_uc010ciw.1_Silent_p.D640D|SPIRE2_uc002fpa.1_Silent_p.D640D|SPIRE2_uc010cix.1_Silent_p.D555D	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	688					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		AGAGCGTGGACGTCCTCAACA	0.597000												
PRDM7	11105	broad.mit.edu	37	16	90127015	90127015	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:90127015G>A	uc010cje.2	-	9	987	c.967C>T	c.(967-969)CGG>TGG	p.R323W	PRDM7_uc002fqo.2_Intron|PRDM7_uc010cjf.2_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.R117W	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	PR domain containing 7 isoform 1	323	SET.					chromosome|nucleus	nucleic acid binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCATCATCCCGGGCACAGTTC	0.537000												
RPH3AL	9501	broad.mit.edu	37	17	97064	97064	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:97064A>G	uc002frd.1	-	5	495	c.451T>C	c.(451-453)TCG>CCG	p.S151P	RPH3AL_uc010vpy.1_Missense_Mutation_p.S151P|RPH3AL_uc002fre.1_Missense_Mutation_p.S151P|RPH3AL_uc002frf.1_Missense_Mutation_p.S122P|RPH3AL_uc010cjl.1_Missense_Mutation_p.S122P	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	151	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CAGGCCCCCGACCTCTTCCAG	0.637000												
SERPINF2	5345	broad.mit.edu	37	17	1657565	1657565	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:1657565T>C	uc002ftk.1	+	10	1290	c.1213T>C	c.(1213-1215)TCC>CCC	p.S405P	SERPINF2_uc010vqr.1_Missense_Mutation_p.S341P	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	405		Reactive bond for chymotrypsin.			acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GTCCCGCATGTCCCTGTCCTC	0.657000												
SHPK	23729	broad.mit.edu	37	17	3514088	3514088	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:3514088A>G	uc002fvz.1	-	7	1306	c.1203T>C	c.(1201-1203)GCT>GCC	p.A401A	TRPV1_uc010vru.1_5'Flank	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	carbohydrate kinase-like	401					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			ovary(1)	1				COAD - Colon adenocarcinoma(5;0.0828)		CTCGGCACAGAGCCCGGGTCA	0.647000												
GSG2	83903	broad.mit.edu	37	17	3627639	3627639	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:3627639C>T	uc002fwp.2	+	1	443	c.410C>T	c.(409-411)CCC>CTC	p.P137L	ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	haspin	137					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity				0						CGACTTCCGCCCTTCCCCAGC	0.726000												
ALOX15	246	broad.mit.edu	37	17	4536710	4536710	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:4536710T>C	uc002fyh.2	-	9	1261	c.1247A>G	c.(1246-1248)CAG>CGG	p.Q416R	ALOX15_uc010vsd.1_Missense_Mutation_p.Q377R|ALOX15_uc010vse.1_Missense_Mutation_p.Q438R	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	416	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TTCCCATACCTGGTCGAAAAT	0.522000												
ALOX12	239	broad.mit.edu	37	17	6913275	6913275	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:6913275C>T	uc002gdx.3	+	13	1695	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L	uc002gdy.1_Intron|ALOX12_uc002gdz.3_Silent_p.L18L|RNASEK_uc002gea.2_5'Flank|C17orf49_uc002geb.3_5'Flank|C17orf49_uc002gec.2_5'Flank	NM_000697	NP_000688	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	548	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			central_nervous_system(1)	1						CTTCCTCCAGCTGGACTGGTA	0.557000												
SLC16A13	201232	broad.mit.edu	37	17	6941568	6941568	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:6941568C>T	uc002geh.2	+	3	749	c.441C>T	c.(439-441)GGC>GGT	p.G147G		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	147	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						CACTGACAGGCGTGGGCCTCT	0.647000												
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:6941599T>C	uc002geh.2	+	3	780	c.472T>C	c.(472-474)TTT>CTT	p.F158L		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	158	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						ATTTGCCCCCTTTTTCCAGTG	0.652000												
ACADVL	37	broad.mit.edu	37	17	7125995	7125995	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7125995T>C	uc002gev.2	+	10	1039	c.888T>C	c.(886-888)CCT>CCC	p.P296P	DLG4_uc002get.3_5'Flank|DLG4_uc010vto.1_5'Flank|ACADVL_uc010vtp.1_Silent_p.P306P|ACADVL_uc010vtq.1_3'UTR|ACADVL_uc002gew.2_Silent_p.P274P|ACADVL_uc002gex.2_Silent_p.P220P	NM_000018	NP_000009	P49748	ACADV_HUMAN	acyl-Coenzyme A dehydrogenase, very long chain	296	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			ovary(3)	3						GTGGGCCCCCTGAGAAGAAGA	0.557000												
C17orf74	201243	broad.mit.edu	37	17	7330046	7330046	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7330046C>T	uc002ggw.2	+	3	809	c.736C>T	c.(736-738)CGT>TGT	p.R246C	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	246						integral to membrane					0		Prostate(122;0.157)				CATGCCCAAGCGTGTAGAGGC	0.647000												
TMEM102	284114	broad.mit.edu	37	17	7339931	7339931	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7339931T>C	uc002ggx.1	+	3	906	c.633T>C	c.(631-633)AGT>AGC	p.S211S	FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Silent_p.S211S	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	transmembrane protein 102	211	Extracellular (Potential).				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding				0		Prostate(122;0.173)				AATCGCCTAGTGACGTTTCAG	0.557000												
POLR2A	5430	broad.mit.edu	37	17	7402384	7402384	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7402384C>T	uc002ghf.3	+	9	1596	c.1362C>T	c.(1360-1362)GAC>GAT	p.D454D	POLR2A_uc002ghe.2_Silent_p.D454D	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	454					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				GTGATGGGGACATTGTTATCT	0.478000												
FXR2	9513	broad.mit.edu	37	17	7496047	7496047	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7496047T>C	uc002gia.1	-	14	1921	c.1694A>G	c.(1693-1695)GAA>GGA	p.E565G	MPDU1_uc010vuc.1_3'UTR|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	fragile X mental retardation syndrome related	565						cytosolic large ribosomal subunit	protein binding|RNA binding				0				READ - Rectum adenocarcinoma(115;0.17)		CCCATCTGATTCCAGGCCTCC	0.622000												
CNTROB	116840	broad.mit.edu	37	17	7849161	7849161	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7849161G>A	uc002gjq.2	+	14	2769	c.1850G>A	c.(1849-1851)CGG>CAG	p.R617Q	CNTROB_uc002gjp.2_Missense_Mutation_p.R617Q|CNTROB_uc002gjr.2_Missense_Mutation_p.R519Q	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	617	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CAGCAGAGCCGGGAAGCAAGG	0.617000												
CNTROB	116840	broad.mit.edu	37	17	7851561	7851561	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7851561A>G	uc002gjq.2	+	17	3215	c.2296A>G	c.(2296-2298)ATG>GTG	p.M766V	CNTROB_uc002gjp.2_Missense_Mutation_p.M766V|CNTROB_uc002gjr.2_Missense_Mutation_p.M668V	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	766	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				TCCCTTAGCCATGGCATCCAG	0.557000												
C17orf59	54785	broad.mit.edu	37	17	8092991	8092991	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8092991G>A	uc010vut.1	-	1	574	c.468C>T	c.(466-468)GGC>GGT	p.G156G		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	hypothetical protein LOC54785	156											0						AGAACGAGCGGCCGGCTCTGC	0.726000												
MFSD6L	162387	broad.mit.edu	37	17	8701297	8701297	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8701297A>G	uc002glp.1	-	1	1290	c.1142T>C	c.(1141-1143)ATC>ACC	p.I381T		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	381	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1						AGTACTGACGATGGCTCCTAC	0.577000												
PIK3R6	146850	broad.mit.edu	37	17	8738638	8738638	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8738638C>T	uc002glq.1	-	8	837	c.597G>A	c.(595-597)GCG>GCA	p.A199A	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	199					platelet activation	cytosol					0						CCCCCAGAGCCGCCTGCAGGG	0.672000												
PIK3R5	23533	broad.mit.edu	37	17	8793299	8793299	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:8793299C>T	uc002glt.2	-	8	869	c.802G>A	c.(802-804)GGG>AGG	p.G268R	PIK3R5_uc010vuz.1_Missense_Mutation_p.G268R|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Intron|PIK3R5_uc010cob.1_5'UTR	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	268				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						CCTAACACCCCAGGGAAGCCA	0.507000												
MYH4	4622	broad.mit.edu	37	17	10361045	10361045	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:10361045G>T	uc002gmn.2	-	16	1700	c.1589C>A	c.(1588-1590)CCT>CAT	p.P530H	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	530	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						GATGCCCATAGGCTAAGAATA	0.398000												
NCOR1	9611	broad.mit.edu	37	17	15974750	15974750	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:15974750C>T	uc002gpo.2	-	30	4365	c.4125G>A	c.(4123-4125)CGG>CGA	p.R1375R	NCOR1_uc002gpn.2_Silent_p.R1391R|NCOR1_uc002gpp.1_Silent_p.R1282R|NCOR1_uc010vwb.1_Intron|NCOR1_uc010coy.2_Silent_p.R283R|NCOR1_uc010vwc.1_Silent_p.R186R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1375	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAATTATCGGCCGTGTGCTCT	0.393000												
PEMT	10400	broad.mit.edu	37	17	17415878	17415878	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:17415878G>A	uc002grj.2	-	4	367	c.300C>T	c.(298-300)GGC>GGT	p.G100G	PEMT_uc002grk.2_Silent_p.G100G|PEMT_uc002grl.2_Silent_p.G137G|PEMT_uc010vwx.1_Silent_p.G137G	NM_148173	NP_680478	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	100	Helical; (Potential).				cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity				0				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CGAGCACGACGCCCAGTCCCA	0.662000												
MYO15A	51168	broad.mit.edu	37	17	18058637	18058637	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18058637G>T	uc010vxh.1	+	46	8688	c.8350G>T	c.(8350-8352)GGC>TGC	p.G2784C	MYO15A_uc010vxi.1_Missense_Mutation_p.G48C|MYO15A_uc010vxj.1_5'UTR|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2784	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					GGGCAGCGTGGGCACTGGTGT	0.647000												
LGALS9C	654346	broad.mit.edu	37	17	18389303	18389303	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18389303A>G	uc002gtw.2	+	3	257	c.187A>G	c.(187-189)AAC>GAC	p.N63D	LGALS9C_uc010vyb.1_5'UTR	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	galectin 9 like	63	Galectin 1.						sugar binding			ovary(1)	1						CTTCCACTTCAACCCTCGGTT	0.527000												
FBXW10	10517	broad.mit.edu	37	17	18651270	18651270	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18651270C>T	uc002guk.2	+	2	754	c.522C>T	c.(520-522)ATC>ATT	p.I174I	FBXW10_uc002guj.2_Silent_p.I174I|FBXW10_uc002gul.2_Silent_p.I174I|FBXW10_uc010cqh.1_Silent_p.I174I	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	174	WD 1.									ovary(1)	1						ATCAAGACATCACAGATGTGT	0.453000												
SLC5A10	125206	broad.mit.edu	37	17	18922781	18922781	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:18922781C>T	uc002guu.1	+	12	1328	c.1287C>T	c.(1285-1287)CCC>CCT	p.P429P	SLC5A10_uc002gur.1_Silent_p.P399P|SLC5A10_uc002gut.1_Silent_p.P445P|SLC5A10_uc002guv.1_Silent_p.P402P|SLC5A10_uc010vyl.1_Silent_p.P393P|SLC5A10_uc002gux.1_RNA	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	429	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						CCTGGATCCCCGTCCTGCAGG	0.617000												
VTN	7448	broad.mit.edu	37	17	26697215	26697215	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:26697215G>T	uc002hbc.2	-	1	159	c.10C>A	c.(10-12)CTG>ATG	p.L4M	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	4					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	AGGGGTCTCAGGGGTGCCATG	0.617000												
SUPT6H	6830	broad.mit.edu	37	17	27005857	27005857	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27005857C>T	uc002hby.2	+	11	1315	c.1225C>T	c.(1225-1227)CGT>TGT	p.R409C	SUPT6H_uc010crt.2_Missense_Mutation_p.R409C	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	409					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					GCTGCGGATCCGTAAAGAGAA	0.517000												
RAB34	83871	broad.mit.edu	37	17	27042294	27042294	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27042294C>T	uc002hce.2	-	7	1056	c.432G>A	c.(430-432)AAG>AAA	p.K144K	RAB34_uc002hcg.2_Silent_p.K144K|RAB34_uc002hcf.2_Silent_p.K145K|RAB34_uc010was.1_Silent_p.K201K|RAB34_uc010wat.1_Silent_p.K201K|RAB34_uc002hch.2_Silent_p.K144K|RAB34_uc010wau.1_Silent_p.K122K|RAB34_uc010wav.1_Silent_p.K202K	NM_031934	NP_114140	Q9BZG1	RAB34_HUMAN	Ras-related protein RAB34 isoform 1	144					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding				0	Lung NSC(42;0.00431)					CCAGCCACTGCCTGCCATGGG	0.557000												
FLOT2	2319	broad.mit.edu	37	17	27211248	27211248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27211248C>T	uc002hdc.2	-	3	340	c.217G>A	c.(217-219)GCC>ACC	p.A73T		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	73					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TATACCTGGGCGACACCCGTC	0.612000												
ANKRD13B	124930	broad.mit.edu	37	17	27939969	27939969	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27939969G>A	uc002hei.2	+	14	1753	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	ANKRD13B_uc002heh.2_Missense_Mutation_p.R415H|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_Missense_Mutation_p.R57H	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	547											0						TACGAGGGTCGCCGACAGGAC	0.687000												
BLMH	642	broad.mit.edu	37	17	28593903	28593903	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:28593903C>A	uc002hez.1	-	11	1453	c.1216G>T	c.(1216-1218)GGT>TGT	p.G406C	BLMH_uc010wbn.1_Missense_Mutation_p.G319C	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	406					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						CTGAGCTCACCTTTGTGGCCA	0.478000												
CPD	1362	broad.mit.edu	37	17	28791794	28791794	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:28791794G>T	uc002hfb.1	+	21	4120	c.4105G>T	c.(4105-4107)GAC>TAC	p.D1369Y	CPD_uc010wbo.1_Missense_Mutation_p.D1122Y|CPD_uc010wbp.1_RNA	NM_001304	NP_001295	O75976	CBPD_HUMAN	carboxypeptidase D precursor	1369	Cytoplasmic (Potential).				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2						GGATGAAACAGACACTGAAGA	0.423000												
C17orf42	79736	broad.mit.edu	37	17	29233199	29233199	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29233199G>T	uc002hfu.2	-	1	88	c.18C>A	c.(16-18)CTC>CTA	p.L6L	C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Silent_p.L6L|C17orf42_uc010wbs.1_Silent_p.L6L	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	hypothetical protein LOC79736	6					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding			ovary(1)	1		all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCGCCGTGAAGAGGACAGACC	0.577000												
NF1	4763	broad.mit.edu	37	17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29497003C>T	uc002hgg.2	+	5	907	c.574C>T	c.(574-576)CGA>TGA	p.R192*	NF1_uc002hge.1_Nonsense_Mutation_p.R192*|NF1_uc002hgf.1_Nonsense_Mutation_p.R192*|NF1_uc002hgh.2_Nonsense_Mutation_p.R192*|NF1_uc010csn.1_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	192					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.R192*(1)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284000			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29556375	29556375	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29556375G>A	uc002hgg.2	+	21	3075	c.2742G>A	c.(2740-2742)CGG>CGA	p.R914R	NF1_uc002hgh.2_Silent_p.R914R|NF1_uc010csn.1_Silent_p.R774R|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	914					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCAAATACGGACCAATGTTA	0.418000			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
AP2B1	163	broad.mit.edu	37	17	33998862	33998862	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:33998862G>A	uc002hjr.2	+	15	2268	c.2079G>A	c.(2077-2079)CTG>CTA	p.L693L	AP2B1_uc002hjq.2_Silent_p.L707L|AP2B1_uc010wci.1_Silent_p.L669L|AP2B1_uc002hjs.2_Silent_p.L636L|AP2B1_uc002hjt.2_Silent_p.L707L|AP2B1_uc010ctv.2_Silent_p.L707L|AP2B1_uc010wcj.1_Silent_p.L444L	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	693	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGAATGACCTGTTTGAACTCT	0.493000												
TAF15	8148	broad.mit.edu	37	17	34173933	34173933	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:34173933G>A	uc002hkd.2	+	16	1849	c.1763G>A	c.(1762-1764)CGC>CAC	p.R588H	TAF15_uc002hkc.2_Missense_Mutation_p.R585H	NM_139215	NP_631961	Q92804	RBP56_HUMAN	TBP-associated factor 15 isoform 1	588	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	bone(33)|lung(1)|skin(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATCAGCGCAACCGACCA	0.428000			T	TEC|CHN1|ZNF384	extraskeletal myxoid chondrosarcomas|ALL							
TBC1D3	729873	broad.mit.edu	37	17	36365070	36365070	+	RNA	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:36365070A>G	uc010wdn.1	-	3		c.301T>C			uc002hpx.2_RNA			Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1D3 mRNA for TBC1 domain family, member 3, complete cds.							intracellular	Rab GTPase activator activity				0	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACTGTGTTACAGCAGCATAGC	0.348000												
PGAP3	93210	broad.mit.edu	37	17	37830251	37830251	+	Silent	SNP	G	G	A	rs147768703	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:37830251G>A	uc002hsj.2	-	5	595	c.552C>T	c.(550-552)TGC>TGT	p.C184C	PGAP3_uc010cvy.2_RNA|PGAP3_uc010wej.1_Silent_p.C163C|PGAP3_uc002hsk.2_Silent_p.C133C|PGAP3_uc010cvz.2_Intron	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	per1-like domain containing 1 precursor	184	Helical; (Potential).				GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			upper_aerodigestive_tract(1)	1						CTCACCTGACGCAGCACAGGT	0.587000												
IKZF3	22806	broad.mit.edu	37	17	37947731	37947731	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:37947731T>C	uc002hsu.2	-	5	592	c.530A>G	c.(529-531)CAC>CGC	p.H177R	IKZF3_uc002htd.2_Missense_Mutation_p.H143R|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Missense_Mutation_p.H143R|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Missense_Mutation_p.H177R|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Missense_Mutation_p.H177R|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Missense_Mutation_p.H177R|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.H90R|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	177	C2H2-type 3.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTTGCAGAGGTGACACTTAAA	0.473000												
THRA	7067	broad.mit.edu	37	17	38249548	38249548	+	Silent	SNP	C	C	T	rs149579879		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:38249548C>T	uc002htw.2	+	10	1869	c.1386C>T	c.(1384-1386)GAC>GAT	p.D462D	THRA_uc002htx.2_Silent_p.D423D|NR1D1_uc002htz.1_Intron|NR1D1_uc010cwq.1_Intron	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	462					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTGGGGAAGACGACAGCAGTG	0.652000												
KRT34	3885	broad.mit.edu	37	17	39535728	39535728	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:39535728G>T	uc002hwm.2	-	5	891	c.879C>A	c.(877-879)ACC>ACA	p.T293T		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	293	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				TCAGCTCCTCGGTCTGAAACA	0.612000												
CNTNAP1	8506	broad.mit.edu	37	17	40842128	40842128	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:40842128G>T	uc002iay.2	+	12	1974	c.1758G>T	c.(1756-1758)GAG>GAT	p.E586D	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	586	Extracellular (Potential).|Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AATCCTGTGAGGCTTATCGGC	0.398000												
ATXN7L3	56970	broad.mit.edu	37	17	42271658	42271658	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:42271658C>T	uc002iga.2	-	12	1108	c.1017G>A	c.(1015-1017)ACG>ACA	p.T339T	ATXN7L3_uc010wiv.1_Silent_p.T121T|ATXN7L3_uc002ifz.2_Silent_p.T346T	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	339					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AGATGCTGGGCGTCGGGGGTG	0.567000												
SLC4A1	6521	broad.mit.edu	37	17	42328569	42328569	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:42328569G>A	uc002igf.3	-	19	2762	c.2613C>T	c.(2611-2613)CGC>CGT	p.R871R		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	871	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCAGCAGGACGCGCCGCAGCG	0.662000												
SLC25A39	51629	broad.mit.edu	37	17	42399085	42399085	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:42399085G>A	uc002ign.2	-	6	529	c.375C>T	c.(373-375)AGC>AGT	p.S125S	SLC25A39_uc002igm.2_Silent_p.S117S|SLC25A39_uc002igo.2_Silent_p.S117S|SLC25A39_uc010wiw.1_Silent_p.S102S|SLC25A39_uc010czu.2_5'UTR|SLC25A39_uc010wix.1_Silent_p.S117S|SLC25A39_uc010wiy.1_Silent_p.S110S	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	125	Helical; Name=2; (Potential).|Solcar 1.				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGGGAGGCCGCTCCAGAGGG	0.627000												
ARHGAP27	201176	broad.mit.edu	37	17	43474298	43474298	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:43474298G>A	uc002iix.2	-	11	1361	c.912C>T	c.(910-912)GAC>GAT	p.D304D	ARHGAP27_uc010dak.2_Silent_p.D277D	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	645					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)					TCGGTCGCGCGTCCTCCTCTT	0.672000												
IMP5	162540	broad.mit.edu	37	17	43922605	43922605	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:43922605G>T	uc010wka.1	+	1	333	c.333G>T	c.(331-333)CAG>CAT	p.Q111H	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	111	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCTGGCTCAGGGCCAAGGTG	0.682000												
ITGB3	3690	broad.mit.edu	37	17	45369851	45369851	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:45369851G>A	uc002ilj.2	+	10	1627	c.1607G>A	c.(1606-1608)AGC>AAC	p.S536N	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	536	Extracellular (Potential).|Cysteine-rich tandem repeats.|II.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	GTCTGCCACAGCAGTGACTTT	0.612000												
C17orf57	124989	broad.mit.edu	37	17	45517988	45517988	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:45517988A>G	uc002iln.2	+	25	3241	c.2830A>G	c.(2830-2832)ATG>GTG	p.M944V		NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	944							calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						GCAATACAATATGAATATAAA	0.313000												
KPNB1	3837	broad.mit.edu	37	17	45734239	45734239	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:45734239T>C	uc002ilt.1	+	4	632	c.296T>C	c.(295-297)TTG>TCG	p.L99S	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	99	Importin N-terminal.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TTGCAGACATTGGGTACAGAA	0.428000												
CBX1	10951	broad.mit.edu	37	17	46152453	46152453	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46152453G>A	uc002ind.3	-	4	809	c.328C>T	c.(328-330)CCA>TCA	p.P110S	CBX1_uc002ine.3_Missense_Mutation_p.P110S	NM_006807	NP_006798	P83916	CBX1_HUMAN	heterochromatin protein 1-beta	110						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding				0						AAGCCTCGTGGCTTTTCTGAC	0.453000												
HOXB1	3211	broad.mit.edu	37	17	46608177	46608177	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46608177G>T	uc002ink.1	-	1	96	c.90C>A	c.(88-90)TCC>TCA	p.S30S		NM_002144	NP_002135	P14653	HXB1_HUMAN	homeobox B1	30						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TTGGGGGAAAGGAGGTTGGGG	0.612000												
HOXB2	3212	broad.mit.edu	37	17	46620969	46620969	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46620969C>T	uc002inm.2	-	2	652	c.532G>A	c.(532-534)GCC>ACC	p.A178T		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	178	Homeobox.				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCCAGCAAGGCCGCGATCTCG	0.607000												
HOXB7	3217	broad.mit.edu	37	17	46685362	46685362	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:46685362G>A	uc002inv.2	-	2	599	c.496C>T	c.(496-498)CGG>TGG	p.R166W		NM_004502	NP_004493	P09629	HXB7_HUMAN	homeobox B7	166	Homeobox.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCGATGCGCCGCCGCCGCGTC	0.567000												
ACSF2	80221	broad.mit.edu	37	17	48551125	48551125	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:48551125C>T	uc002iqu.2	+	13	1679	c.1575C>T	c.(1573-1575)CTC>CTT	p.L525L	ACSF2_uc010wml.1_Silent_p.L482L|ACSF2_uc010wmm.1_Silent_p.L550L|ACSF2_uc010wmn.1_Silent_p.L512L|ACSF2_uc010wmo.1_Silent_p.L365L|ACSF2_uc010dbt.1_Silent_p.L29L	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	525					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCGCAGAGCTCGAGGACTTCT	0.547000												
LUC7L3	51747	broad.mit.edu	37	17	48797184	48797184	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:48797184C>A	uc002isr.2	+	1	208	c.91C>A	c.(91-93)CAC>AAC	p.H31N	LUC7L3_uc002isp.1_5'UTR|LUC7L3_uc010wmw.1_5'UTR|LUC7L3_uc002isq.2_Missense_Mutation_p.H31N|LUC7L3_uc002iss.2_Missense_Mutation_p.H31N	NM_006107	NP_006098	O95232	LC7L3_HUMAN	LUC7-like 3	31					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding				0						GCGGTGGGACCACGAGAGCGT	0.697000												
WFIKKN2	124857	broad.mit.edu	37	17	48917398	48917398	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:48917398G>A	uc002isv.3	+	2	1443	c.749G>A	c.(748-750)CGG>CAG	p.R250Q	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R157Q	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	250	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTGGAGGATCGGGAGAATGTG	0.607000												
PCTP	58488	broad.mit.edu	37	17	53851118	53851118	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:53851118A>G	uc002iul.3	+	4	482	c.373A>G	c.(373-375)ATG>GTG	p.M125V	PCTP_uc002ium.3_Missense_Mutation_p.M53V|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	125	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)			AGACCTGGACATGGAAGGGAG	0.562000												
TRIM25	7706	broad.mit.edu	37	17	54969106	54969106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:54969106C>T	uc002iut.2	-	9	1908	c.1848G>A	c.(1846-1848)TGG>TGA	p.W616*	TRIM25_uc010dcj.2_Nonsense_Mutation_p.W408*	NM_005082	NP_005073	Q14258	TRI25_HUMAN	tripartite motif-containing 25	616	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			lung(1)|breast(1)|skin(1)	3	Breast(9;6.15e-08)					CAGAAAATACCCAGAAAGCCG	0.537000												
AKAP1	8165	broad.mit.edu	37	17	55195773	55195773	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:55195773C>A	uc002iux.2	+	9	2763	c.2532C>A	c.(2530-2532)GCC>GCA	p.A844A	AKAP1_uc010wnl.1_Silent_p.A844A|AKAP1_uc010dcm.2_Silent_p.A844A	NM_003488	NP_003479	Q92667	AKAP1_HUMAN	A-kinase anchor protein 1 precursor	844					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			ovary(1)	1	Breast(9;5.46e-08)					AAGCAGATGCCGCCATGAGCG	0.557000												
EPX	8288	broad.mit.edu	37	17	56272434	56272434	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:56272434T>C	uc002ivq.2	+	6	790	c.704T>C	c.(703-705)CTG>CCG	p.L235P		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	235					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2						GACCATGACCTGGACTTCTCC	0.612000												
BZRAP1	9256	broad.mit.edu	37	17	56389308	56389308	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:56389308G>A	uc002ivx.3	-	17	3745	c.2874C>T	c.(2872-2874)GGC>GGT	p.G958G	BZRAP1_uc010dcs.2_Silent_p.G898G|BZRAP1_uc010wnt.1_Silent_p.G958G	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	958						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCTCTCCCAGCCTGGTTCCC	0.652000												
TRIM37	4591	broad.mit.edu	37	17	57109385	57109385	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:57109385G>C	uc002iwy.3	-	18	2264	c.1820C>G	c.(1819-1821)GCT>GGT	p.A607G	TRIM37_uc002iwz.3_Missense_Mutation_p.A607G|TRIM37_uc002ixa.3_Missense_Mutation_p.A485G|TRIM37_uc010woc.1_Missense_Mutation_p.A573G	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	607						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTACTGGTAGCAGCGGAGCA	0.393000									Mulibrey_Nanism			
USP32	84669	broad.mit.edu	37	17	58270288	58270288	+	Silent	SNP	G	G	A	rs139004365		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:58270288G>A	uc002iyo.1	-	28	3724	c.3438C>T	c.(3436-3438)GAC>GAT	p.D1146D	USP32_uc002iyn.1_Silent_p.D816D	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1146					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCATACTGTCGTCACTGAAAC	0.448000												
TANC2	26115	broad.mit.edu	37	17	61497839	61497839	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61497839G>T	uc002jal.3	+	25	4519	c.4496G>T	c.(4495-4497)AGG>ATG	p.R1499M	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.R610M	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1499							binding			ovary(2)	2						TCACATTACAGGCCTAGCCCA	0.557000												
ACE	1636	broad.mit.edu	37	17	61559016	61559016	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61559016G>A	uc002jau.1	+	7	1057	c.1035G>A	c.(1033-1035)GGG>GGA	p.G345G	ACE_uc010wpi.1_Silent_p.G345G|ACE_uc010ddu.1_Silent_p.G162G	NM_000789	NP_000780	P12821	ACE_HUMAN	angiotensin I converting enzyme 1 isoform 1	345	Extracellular (Potential).|Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCTGGGAAGGGTCGATGCTGG	0.622000												
TACO1	51204	broad.mit.edu	37	17	61681964	61681964	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61681964G>A	uc002jbd.2	+	2	551	c.351G>A	c.(349-351)ATG>ATA	p.M117I		NM_016360	NP_057444	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially	117					regulation of translation	mitochondrion					0						GCAAACATATGCCCAAGTCAA	0.458000												
DDX42	11325	broad.mit.edu	37	17	61895733	61895733	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:61895733G>A	uc002jbu.2	+	19	3049	c.2792G>A	c.(2791-2793)CGC>CAC	p.R931H	DDX42_uc002jbv.2_Missense_Mutation_p.R931H|DDX42_uc002jbx.2_Missense_Mutation_p.R667H|DDX42_uc002jby.2_Missense_Mutation_p.R477H|DDX42_uc010wps.1_Missense_Mutation_p.R299H	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	931					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5						CCGCCTAAACGCAAGAAAAGT	0.478000												
SCN4A	6329	broad.mit.edu	37	17	62022372	62022372	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:62022372G>T	uc002jds.1	-	20	3846	c.3769C>A	c.(3769-3771)CGG>AGG	p.R1257R		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1257	III.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	CTCACCTCCCGGGAGTCCACG	0.617000												
PRKCA	5578	broad.mit.edu	37	17	64731753	64731753	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:64731753G>A	uc002jfp.1	+	10	1247	c.1203G>A	c.(1201-1203)ACG>ACA	p.T401T	PRKCA_uc002jfo.1_Silent_p.T272T	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	401	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGTTCTTGACGCAGCTGCACT	0.542000												
CACNG1	786	broad.mit.edu	37	17	65040806	65040806	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65040806C>T	uc002jfu.2	+	1	101	c.30C>T	c.(28-30)CGC>CGT	p.R10R		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	10					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TGAAGGTCCGCGTGACCCTCT	0.652000												
HELZ	9931	broad.mit.edu	37	17	65190146	65190146	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65190146C>T	uc010wqk.1	-	9	681	c.494G>A	c.(493-495)GGT>GAT	p.G165D	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.G165D	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAAATGCCAACCATTACAAGA	0.373000												
ABCA8	10351	broad.mit.edu	37	17	66871434	66871434	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:66871434A>G	uc002jhp.2	-	35	4657	c.4478T>C	c.(4477-4479)CTG>CCG	p.L1493P	ABCA8_uc002jhq.2_Missense_Mutation_p.L1533P|ABCA8_uc010wqq.1_Missense_Mutation_p.L1528P	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1493						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)					GAAAAGCCTCAGGATCTCTGC	0.478000												
ABCA9	10350	broad.mit.edu	37	17	67045534	67045534	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:67045534A>G	uc002jhu.2	-	3	337	c.194T>C	c.(193-195)CTG>CCG	p.L65P	ABCA9_uc010dez.2_Missense_Mutation_p.L65P|ABCA9_uc002jhv.2_Missense_Mutation_p.L65P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	65					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TACACGTCCCAGATCCATTGA	0.368000												
DNAI2	64446	broad.mit.edu	37	17	72306204	72306204	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:72306204C>G	uc002jkf.2	+	11	1495	c.1396C>G	c.(1396-1398)CTC>GTC	p.L466V	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	466					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CAATGGGTGTCTCATCGCCTG	0.607000									Kartagener_syndrome			
FDXR	2232	broad.mit.edu	37	17	72862943	72862943	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:72862943A>G	uc002jly.2	-	3	320	c.233T>C	c.(232-234)GTG>GCG	p.V78A	FDXR_uc010wri.1_Missense_Mutation_p.V26A|FDXR_uc010wrj.1_Missense_Mutation_p.V76A|FDXR_uc002jlw.2_5'UTR|FDXR_uc002jlx.2_Missense_Mutation_p.V78A|FDXR_uc002jmc.2_Missense_Mutation_p.V79A|FDXR_uc010wrk.1_Missense_Mutation_p.V109A|FDXR_uc010wrl.1_Missense_Mutation_p.V121A|FDXR_uc002jma.2_Missense_Mutation_p.V79A|FDXR_uc010wrm.1_Missense_Mutation_p.V79A|FDXR_uc002jlz.2_Missense_Mutation_p.V78A|FDXR_uc002jmb.2_RNA	NM_024417	NP_077728	P22570	ADRO_HUMAN	ferredoxin reductase isoform 1 precursor	78					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding				0	all_lung(278;0.172)|Lung NSC(278;0.207)					ACCAAAGCGCACCAGGCCAAA	0.637000												
OTOP2	92736	broad.mit.edu	37	17	72926394	72926394	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:72926394G>A	uc010wrp.1	+	7	753	c.664G>A	c.(664-666)GGA>AGA	p.G222R		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	otopetrin 2	222						integral to membrane				ovary(3)|large_intestine(1)	4	all_lung(278;0.172)|Lung NSC(278;0.207)					CAACCCGGTCGGAGGAGACTC	0.572000												
KIAA0195	9772	broad.mit.edu	37	17	73487138	73487138	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73487138G>A	uc002jnz.3	+	12	1412	c.1137G>A	c.(1135-1137)CTG>CTA	p.L379L	KIAA0195_uc010wsa.1_Silent_p.L389L|KIAA0195_uc010wsb.1_Silent_p.L31L	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	379					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGAAATGCTGCGCTGCATTT	0.612000												
KIAA0195	9772	broad.mit.edu	37	17	73489851	73489851	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73489851T>C	uc002jnz.3	+	18	2536	c.2261T>C	c.(2260-2262)ATG>ACG	p.M754T	KIAA0195_uc010wsa.1_Missense_Mutation_p.M764T|KIAA0195_uc010wsb.1_Missense_Mutation_p.M394T|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	754					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACAAGCCCATGAACTGCGCC	0.597000												
KIAA0195	9772	broad.mit.edu	37	17	73495137	73495137	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73495137T>C	uc002jnz.3	+	31	4247	c.3972T>C	c.(3970-3972)AAT>AAC	p.N1324N	KIAA0195_uc010wsa.1_Silent_p.N1334N|KIAA0195_uc010wsb.1_Silent_p.N964N|KIAA0195_uc002job.3_Silent_p.N362N	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	1324	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGTGACCAATGAGATCGTGA	0.602000												
LLGL2	3993	broad.mit.edu	37	17	73567789	73567789	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73567789G>T	uc002joh.2	+	18	2372	c.2218G>T	c.(2218-2220)GGC>TGC	p.G740C	LLGL2_uc002joi.2_Missense_Mutation_p.G740C|LLGL2_uc010dgg.1_Missense_Mutation_p.G740C|LLGL2_uc002joj.2_Missense_Mutation_p.G729C|LLGL2_uc010wsd.1_Missense_Mutation_p.G367C	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	740	WD 11.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CACCAATGGGGGCACCATCTA	0.662000												
ITGB4	3691	broad.mit.edu	37	17	73750675	73750675	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73750675G>A	uc002jpg.2	+	34	4524	c.4337G>A	c.(4336-4338)CGG>CAG	p.R1446Q	ITGB4_uc002jph.2_Missense_Mutation_p.R1376Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R1376Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R1376Q|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1446	Cytoplasmic (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAATGGCCGGATGGACTTT	0.677000												
UNK	85451	broad.mit.edu	37	17	73805954	73805954	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73805954G>A	uc002jpm.2	+	3	446	c.446G>A	c.(445-447)CGG>CAG	p.R149Q		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	73	Poly-Arg.						nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCGCCGCCGGTCCATCCGC	0.622000												
UNK	85451	broad.mit.edu	37	17	73813510	73813510	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73813510G>T	uc002jpm.2	+	10	1436	c.1436G>T	c.(1435-1437)GGG>GTG	p.G479V		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	403							nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCTTCCCTGGGGAGTCTGGC	0.602000												
RNF157	114804	broad.mit.edu	37	17	74155544	74155544	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74155544G>A	uc002jqz.2	-	12	1245	c.1176C>T	c.(1174-1176)GGC>GGT	p.G392G	RNF157_uc002jra.2_Silent_p.G392G	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	392							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGAGAGGTGGCCATCTCCAA	0.592000												
QRICH2	84074	broad.mit.edu	37	17	74287434	74287434	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74287434C>T	uc002jrd.1	-	4	3056	c.2876G>A	c.(2875-2877)GGC>GAC	p.G959D	QRICH2_uc010wsz.1_Missense_Mutation_p.G885D|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	959							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						ACCTTCCTGGCCATGCTGATC	0.512000												
SPHK1	8877	broad.mit.edu	37	17	74383476	74383476	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74383476G>A	uc002jrf.1	+	8	1773	c.964G>A	c.(964-966)GTG>ATG	p.V322M	SPHK1_uc002jrg.1_Missense_Mutation_p.V271M|SPHK1_uc002jrh.2_Missense_Mutation_p.V336M|SPHK1_uc002jrj.2_Missense_Mutation_p.V408M|SPHK1_uc002jri.2_Missense_Mutation_p.V322M|SPHK1_uc002jrk.3_Missense_Mutation_p.V322M|uc010wtd.1_RNA	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1 isoform 3	322					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			kidney(1)	1						CTTGGTATATGTGCCCGTGGT	0.597000												
AANAT	15	broad.mit.edu	37	17	74464970	74464970	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:74464970G>A	uc002jro.2	+	2	376	c.142G>A	c.(142-144)GCC>ACC	p.A48T	AANAT_uc010wte.1_RNA	NM_001088	NP_001079	Q16613	SNAT_HUMAN	arylalkylamine N-acetyltransferase	48	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity				0						CGCTGTCAGCGCCTTTGAGAT	0.637000												
C17orf56	146705	broad.mit.edu	37	17	79202811	79202811	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:79202811C>T	uc002jzu.1	-	12	1517	c.1495G>A	c.(1495-1497)GCC>ACC	p.A499T	C17orf56_uc002jzr.1_Missense_Mutation_p.A169T|C17orf56_uc002jzs.1_Missense_Mutation_p.A415T|C17orf56_uc002jzt.1_Missense_Mutation_p.A415T|C17orf56_uc002jzv.1_Missense_Mutation_p.A347T|uc002jzw.1_RNA	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	499						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTTGGGGGGCGCGGGGAGCA	0.672000												
TMEM105	284186	broad.mit.edu	37	17	79287451	79287451	+	Nonstop_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:79287451T>C	uc002kad.1	-	3	940	c.390A>G	c.(388-390)TGA>TGG	p.*130W		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	transmembrane protein 105	130						integral to membrane				ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GAGATGGCAGTCACCTCCCTC	0.592000												
ASPSCR1	79058	broad.mit.edu	37	17	79952719	79952719	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:79952719G>A	uc002kcx.2	+	5	494	c.397G>A	c.(397-399)GGG>AGG	p.G133R	ASPSCR1_uc002kcw.1_Missense_Mutation_p.G133R|ASPSCR1_uc002kcy.2_Missense_Mutation_p.G133R|ASPSCR1_uc002kcz.2_Missense_Mutation_p.G133R|ASPSCR1_uc002kda.2_Missense_Mutation_p.G56R|ASPSCR1_uc002kdb.1_Missense_Mutation_p.G56R	NM_024083	NP_076988	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region,	133							protein binding		ASPSCR1/TFE3(161)	soft_tissue(118)|kidney(43)|breast(1)	162	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCACCCCGGCGGGGCCACCCC	0.632000			T	TFE3	alveolar soft part sarcoma							
FASN	2194	broad.mit.edu	37	17	80046753	80046753	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80046753C>A	uc002kdu.2	-	15	2422	c.2305_splice	c.e15-1	p.A769_splice	FASN_uc002kdw.1_Translation_Start_Site	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase						energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCAGGACAGCCTGGGGGCGGC	0.672000												
WDR45L	56270	broad.mit.edu	37	17	80579639	80579639	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80579639A>G	uc002kfq.2	-	6	659	c.464T>C	c.(463-465)CTC>CCC	p.L155P	WDR45L_uc002kfr.2_RNA	NM_019613	NP_062559	Q5MNZ6	WIPI3_HUMAN	WDR45-like	155					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			ovary(1)	1	Breast(20;0.00106)|all_neural(118;0.0952)	all_cancers(8;0.101)|all_epithelial(8;0.198)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835)			AAAGGCCAGGAGGGAGTTGTT	0.572000												
ZNF750	79755	broad.mit.edu	37	17	80788598	80788598	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80788598G>A	uc002kga.2	-	3	1903	c.1592C>T	c.(1591-1593)ACG>ATG	p.T531M	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	531						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCCTTGGTACGTGGGTTCGTG	0.627000												
COLEC12	81035	broad.mit.edu	37	18	348068	348068	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:348068A>T	uc002kkm.2	-	4	492	c.277T>A	c.(277-279)TTA>ATA	p.L93I		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	93	Potential.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGATTACCTAATTTTTTCAGG	0.418000												
ZFP161	7541	broad.mit.edu	37	18	5291879	5291879	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:5291879A>G	uc002kmq.2	-	4	489	c.328T>C	c.(328-330)TCA>CCA	p.S110P	ZFP161_uc002kmr.2_Missense_Mutation_p.S110P|ZFP161_uc010dkp.2_Missense_Mutation_p.S110P	NM_003409	NP_003400	O43829	ZF161_HUMAN	zinc finger protein 161 homolog	110					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGACCCGATGACATCATTAAG	0.373000												
TXNDC2	84203	broad.mit.edu	37	18	9886919	9886919	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:9886919A>G	uc002koi.3	+	2	892	c.443A>G	c.(442-444)AAC>AGC	p.N148S	TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.N81S	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	148	3.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2						AAAGAGAGTAACATCCCCAAG	0.557000												
CEP192	55125	broad.mit.edu	37	18	13057734	13057734	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:13057734T>C	uc010xac.1	+	20	4337	c.4257_splice	c.e20+2	p.K1419_splice	CEP192_uc010dlf.1_Splice_Site|CEP192_uc010xad.1_Splice_Site_p.K944_splice|CEP192_uc002kru.2_Splice_Site|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Splice_Site_p.K1160_splice	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa											ovary(4)|pancreas(1)	5						GGTGAAAAGGTAGCTTTCTAT	0.468000												
LAMA3	3909	broad.mit.edu	37	18	21422480	21422480	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:21422480G>A	uc002kuq.2	+	28	3544	c.3458G>A	c.(3457-3459)CGG>CAG	p.R1153Q	LAMA3_uc002kur.2_Missense_Mutation_p.R1153Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1153	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTGGCCACGGGCAGGTGAG	0.607000												
CDH2	1000	broad.mit.edu	37	18	25532313	25532313	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:25532313G>A	uc002kwg.2	-	16	2984	c.2525C>T	c.(2524-2526)GCG>GTG	p.A842V	CDH2_uc010xbn.1_Missense_Mutation_p.A811V	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	842	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						ATTGTCAGCCGCTTTAAGGCC	0.458000											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PIK3C3	5289	broad.mit.edu	37	18	39617690	39617690	+	Missense_Mutation	SNP	C	C	T	rs141329274		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:39617690C>T	uc002lap.2	+	17	1932	c.1874C>T	c.(1873-1875)ACG>ATG	p.T625M	PIK3C3_uc010xcl.1_Missense_Mutation_p.T562M|PIK3C3_uc002laq.2_Missense_Mutation_p.T110M|PIK3C3_uc002lar.1_Missense_Mutation_p.T9M	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	625					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						TTTTTTAAGACGGAAGATGGA	0.328000										TSP Lung(28;0.18)		
PIAS2	9063	broad.mit.edu	37	18	44392421	44392421	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:44392421A>G	uc002lck.2	-	14	1999	c.1841T>C	c.(1840-1842)ATT>ACT	p.I614T	PIAS2_uc010dnp.2_Missense_Mutation_p.I312T	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	614					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						GATGTCAGGAATGTTACTTCC	0.463000												
POLI	11201	broad.mit.edu	37	18	51813729	51813729	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:51813729T>C	uc002lfj.3	+	8	1214	c.1146T>C	c.(1144-1146)CGT>CGC	p.R382R	POLI_uc010xds.1_Silent_p.R303R|POLI_uc002lfk.3_Silent_p.R279R|POLI_uc010dpg.2_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	DNA polymerase iota	382	DNA binding.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			ovary(2)|kidney(1)	3				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ACTATGGTCGTGAGAGTCGTC	0.403000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
C18orf54	162681	broad.mit.edu	37	18	51888258	51888258	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:51888258A>G	uc002lfn.3	+	3	645	c.529A>G	c.(529-531)ATG>GTG	p.M177V	C18orf54_uc002lfo.3_Missense_Mutation_p.M177V	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	177						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CTACACTTCCATGGGCAAGGA	0.403000												
C18orf54	162681	broad.mit.edu	37	18	51904589	51904589	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:51904589G>A	uc002lfn.3	+	8	1208	c.1092G>A	c.(1090-1092)ACG>ACA	p.T364T	C18orf54_uc002lfo.3_Silent_p.T525T	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	364						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TTGATGATACGAATGGAGAAC	0.363000												
WDR7	23335	broad.mit.edu	37	18	54603098	54603098	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:54603098G>A	uc002lgk.1	+	23	4004	c.3793G>A	c.(3793-3795)GCC>ACC	p.A1265T	WDR7_uc002lgl.1_Missense_Mutation_p.A1232T	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	1265										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)		CATTGCCACCGCCAGACCACC	0.527000												
ATP8B1	5205	broad.mit.edu	37	18	55355551	55355551	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:55355551C>T	uc002lgw.2	-	12	1409	c.1409G>A	c.(1408-1410)TGT>TAT	p.C470Y	uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	470	Cytoplasmic (Potential).				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)				CCCGTTGATACAGCACTTTTT	0.468000									Byler_disease			
KIAA1468	57614	broad.mit.edu	37	18	59936180	59936180	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:59936180A>G	uc002lil.2	+	20	2974	c.2759A>G	c.(2758-2760)CAG>CGG	p.Q920R	KIAA1468_uc002lik.1_Missense_Mutation_p.Q916R|KIAA1468_uc010xel.1_Missense_Mutation_p.Q920R|KIAA1468_uc002lim.2_Missense_Mutation_p.Q564R	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	920							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TGTTATATTCAGGTAAGGGAA	0.343000												
KIAA1468	57614	broad.mit.edu	37	18	59966038	59966038	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:59966038A>G	uc002lil.2	+	28	3690	c.3475A>G	c.(3475-3477)ATG>GTG	p.M1159V	KIAA1468_uc010xel.1_Missense_Mutation_p.M1159V|KIAA1468_uc002lim.2_Missense_Mutation_p.M837V	NM_020854	NP_065905	Q9P260	K1468_HUMAN	hypothetical protein LOC57614	1159							binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6		Colorectal(73;0.186)				TTTAAGTTCCATGATAAAAGA	0.254000												
CDH7	1005	broad.mit.edu	37	18	63525178	63525178	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:63525178A>G	uc002ljz.2	+	8	1687	c.1362A>G	c.(1360-1362)GCA>GCG	p.A454A	CDH7_uc002lka.2_Silent_p.A454A|CDH7_uc002lkb.2_Silent_p.A454A	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	454	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CAGTCCTTGCAATGGAGAGCC	0.398000												
CNDP2	55748	broad.mit.edu	37	18	72180856	72180856	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72180856G>A	uc002llm.1	+	8	967	c.805G>A	c.(805-807)GTC>ATC	p.V269I	CNDP2_uc002lln.1_Missense_Mutation_p.V185I|CNDP2_uc010dqs.2_Intron	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2	269						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			ovary(2)|skin(1)	3		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CGTGGCCGCCGTCACGGAAGA	0.592000												
CNDP1	84735	broad.mit.edu	37	18	72229332	72229332	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72229332T>C	uc002llq.2	+	5	728	c.517T>C	c.(517-519)TGG>CGG	p.W173R	uc002llr.2_5'Flank	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	carnosinase 1 precursor	173					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity				0		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTCTTGGCTTGGATCAATGC	0.512000												
ADNP2	22850	broad.mit.edu	37	18	77893889	77893889	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:77893889C>T	uc002lnw.2	+	4	1048	c.593C>T	c.(592-594)CCG>CTG	p.P198L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	198					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|breast(3)|central_nervous_system(1)	8		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGTGAGCAACCGAAAACTAAC	0.423000												
THEG	51298	broad.mit.edu	37	19	362324	362324	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:362324A>G	uc002lol.2	-	8	1055	c.1016T>C	c.(1015-1017)CTG>CCG	p.L339P	THEG_uc002lom.2_Missense_Mutation_p.L315P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Theg homolog isoform 1	339	THEG 6.				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			ovary(1)	1		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCTTGGCCAGGGAGATGAT	0.602000												
POLRMT	5442	broad.mit.edu	37	19	629979	629979	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:629979T>G	uc002lpf.1	-	3	439	c.383A>C	c.(382-384)AAG>ACG	p.K128T		NM_005035	NP_005026	O00411	RPOM_HUMAN	mitochondrial DNA-directed RNA polymerase	128					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			ovary(1)|pancreas(1)	2		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTTATCCTTCTCCAGTAT	0.632000												
ARID3A	1820	broad.mit.edu	37	19	971952	971952	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:971952A>G	uc002lql.2	+	9	1959	c.1669A>G	c.(1669-1671)AGC>GGC	p.S557G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	557	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cggcggcggcagcagcagcAA	0.532000												
NDUFS7	374291	broad.mit.edu	37	19	1390983	1390983	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1390983G>A	uc002lse.3	+	5	385	c.342G>A	c.(340-342)CCG>CCA	p.P114P	NDUFS7_uc002lsf.2_Silent_p.P178P|NDUFS7_uc002lsh.2_Silent_p.P178P|NDUFS7_uc002lsg.2_Silent_p.P121P	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	114					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	GCGCCAGCCCGCGCCAGTCCG	0.682000												
DAZAP1	26528	broad.mit.edu	37	19	1421167	1421167	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1421167T>C	uc002lsn.2	+	5	513	c.324T>C	c.(322-324)GAT>GAC	p.D108D	DAZAP1_uc002lsm.2_Silent_p.D108D|DAZAP1_uc002lso.2_Silent_p.D107D|DAZAP1_uc002lsl.1_Silent_p.D108D	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	108					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGAGCGATAACAGTAAAT	0.478000												
ATP8B3	148229	broad.mit.edu	37	19	1807186	1807186	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1807186C>T	uc002ltw.2	-	6	830	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	ATP8B3_uc002ltv.2_Missense_Mutation_p.R146Q|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_5'Flank|ATP8B3_uc002ltz.1_Missense_Mutation_p.R146Q	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	199	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCAGGTCCCGGGTGGCACG	0.662000												
SCAMP4	113178	broad.mit.edu	37	19	1918915	1918915	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:1918915G>A	uc002luj.2	+	5	428	c.321G>A	c.(319-321)GCG>GCA	p.A107A	SCAMP4_uc002lui.1_Silent_p.A107A|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Silent_p.A63A	NM_079834	NP_524558	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	107	Helical; (Potential).				protein transport	integral to membrane					0		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTCATGGCGTTTTTCTTCA	0.587000												
MKNK2	2872	broad.mit.edu	37	19	2041038	2041038	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2041038C>T	uc002lus.2	-	12	1355	c.1110_splice	c.e12+1	p.G370_splice	MKNK2_uc002luq.1_Splice_Site_p.G114_splice|MKNK2_uc010xgu.1_Splice_Site_p.G209_splice|MKNK2_uc010xgv.1_Splice_Site_p.G239_splice|MKNK2_uc002lur.2_Splice_Site_p.G370_splice|MKNK2_uc002lut.1_Missense_Mutation_p.V115M	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2						cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTACTCACCCCCTGAACC	0.672000												
MOBKL2A	126308	broad.mit.edu	37	19	2078215	2078215	+	Silent	SNP	C	C	T	rs141779492		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2078215C>T	uc002luu.2	-	1	504	c.345G>A	c.(343-345)GCG>GCA	p.A115A	MOBKL2A_uc002luv.2_Silent_p.A115A	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	MOB-LAK	115						intracellular	metal ion binding			lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTACCTGGGCGCGGAGAGTG	0.627000												
DOT1L	84444	broad.mit.edu	37	19	2211118	2211118	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2211118A>G	uc002lvb.3	+	15	1408	c.1372A>G	c.(1372-1374)AGC>GGC	p.S458G	DOT1L_uc002lvc.1_5'UTR	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	DOT1-like, histone H3 methyltransferase	458				RSPHSPFYQLPPSV -> TLRTPSGSPRRTKL (in Ref. 3).		nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCCTCACAGCCCGTTCTA	0.701000												
JSRP1	126306	broad.mit.edu	37	19	2254198	2254198	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:2254198T>G	uc002lvi.1	-	3	285	c.250A>C	c.(250-252)AAA>CAA	p.K84Q	JSRP1_uc002lvj.1_Missense_Mutation_p.K84Q	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	84						sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCGGCTTTCAGCCTCTCC	0.637000											OREG0025137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TLE2	7089	broad.mit.edu	37	19	3005804	3005804	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3005804C>T	uc002lww.2	-	16	1926	c.1663G>A	c.(1663-1665)GTC>ATC	p.V555I	TLE2_uc010xhb.1_Missense_Mutation_p.V222I|TLE2_uc010dth.2_Missense_Mutation_p.V556I|TLE2_uc010xhc.1_Missense_Mutation_p.V433I|TLE2_uc010dti.2_Missense_Mutation_p.V569I	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	555	WD 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGGCTGACGGCCAGGGCG	0.642000												
S1PR4	8698	broad.mit.edu	37	19	3179136	3179136	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3179136G>A	uc002lxg.2	+	1	371	c.346G>A	c.(346-348)GCC>ACC	p.A116T		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	116	Extracellular (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						TCTGGCGCCCGCCCAGTGGTT	0.677000												
PIP5K1C	23396	broad.mit.edu	37	19	3651850	3651850	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3651850G>A	uc002lyj.1	-	8	1158	c.1101C>T	c.(1099-1101)CGC>CGT	p.R367R	PIP5K1C_uc010xhq.1_Silent_p.R367R|PIP5K1C_uc010xhr.1_Silent_p.R367R	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	367	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			stomach(2)|skin(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TGGCCTCCCCGCGCGCGGCGC	0.706000												
ZFR2	23217	broad.mit.edu	37	19	3823364	3823364	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3823364C>A	uc002lyw.2	-	8	1263	c.1251G>T	c.(1249-1251)CAG>CAT	p.Q417H	ZFR2_uc010xhx.1_RNA	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	417						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTTTCCCCCACTGGGGTCTGC	0.612000												
EEF2	1938	broad.mit.edu	37	19	3976713	3976713	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3976713C>T	uc002lze.2	-	15	2499	c.2416G>A	c.(2416-2418)GGC>AGC	p.G806S		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	806						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AACGCCTGGCCGCCCGTGTTG	0.652000												
SHD	56961	broad.mit.edu	37	19	4282880	4282880	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:4282880C>T	uc002lzw.2	+	2	1774	c.311C>T	c.(310-312)ACT>ATT	p.T104I	SHD_uc010dtu.2_Missense_Mutation_p.T104I	NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming	104											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCCGACACTGAGTATTTA	0.577000												
PLIN5	440503	broad.mit.edu	37	19	4529193	4529193	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:4529193G>A	uc002mas.2	-	5	465	c.412C>T	c.(412-414)CGC>TGC	p.R138C	PLIN5_uc002mat.1_3'UTR	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	lipid storage droplet protein 5	138						lipid particle					0						ACGCTCCAGCGCCGGCCCCTC	0.642000												
LONP1	9361	broad.mit.edu	37	19	5700808	5700808	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:5700808G>A	uc002mcx.2	-	9	1531	c.1498C>T	c.(1498-1500)CGC>TGC	p.R500C	LONP1_uc002mcy.2_Missense_Mutation_p.R436C|LONP1_uc010duh.2_Missense_Mutation_p.R241C|LONP1_uc010dui.2_Missense_Mutation_p.R484C|LONP1_uc002mcz.2_Missense_Mutation_p.R304C	NM_004793	NP_004784	P36776	LONM_HUMAN	mitochondrial lon peptidase 1 precursor	500					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding				0						ACCAGGATGCGTTTCTTGACG	0.597000												
TUBB4	10382	broad.mit.edu	37	19	6496155	6496155	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:6496155C>T	uc002mfg.1	-	4	462	c.355G>A	c.(355-357)GTA>ATA	p.V119I	TUBB4_uc002mff.1_Missense_Mutation_p.V47I	NM_006087	NP_006078	P04350	TBB4_HUMAN	tubulin, beta 4	119					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(2)	2		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)		TTCCGGACTACGTCCAGGACA	0.667000												
KIAA1543	57662	broad.mit.edu	37	19	7676636	7676636	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:7676636C>T	uc002mgv.3	+	11	1358	c.1257C>T	c.(1255-1257)GTC>GTT	p.V419V	KIAA1543_uc002mgu.3_Silent_p.V446V|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	419					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						ACGTGGATGTCGTCATGGGAG	0.726000												
KIAA1543	57662	broad.mit.edu	37	19	7677715	7677715	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:7677715G>A	uc002mgv.3	+	11	2437	c.2336G>A	c.(2335-2337)CGC>CAC	p.R779H	KIAA1543_uc002mgu.3_Missense_Mutation_p.R806H|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	779	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						CAGTCACCCCGCAGCCCGAAA	0.751000												
XAB2	56949	broad.mit.edu	37	19	7692277	7692277	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:7692277C>T	uc002mgx.2	-	4	400	c.374G>A	c.(373-375)CGC>CAC	p.R125H	uc010dvi.1_5'Flank	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	125	HAT 4.				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			central_nervous_system(2)|breast(1)|skin(1)	4						GTGTGTGACGCGCCCCTGGTC	0.647000								Direct_reversal_of_damage|NER				
FBN3	84467	broad.mit.edu	37	19	8154554	8154554	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:8154554T>C	uc002mjf.2	-	50	6272	c.6251A>G	c.(6250-6252)GAC>GGC	p.D2084G	FBN3_uc002mje.2_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2084	EGF-like 33; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						CTCATTCACGTCTGCGGATGG	0.592000												
PRAM1	84106	broad.mit.edu	37	19	8563150	8563150	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:8563150C>T	uc002mkd.2	-	3	1476	c.1456G>A	c.(1456-1458)GCT>ACT	p.A486T	PRAM1_uc002mkc.2_Missense_Mutation_p.A486T	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	534							lipid binding|protein binding				0						TGGAGCCCAGCGGCCGAGCGG	0.682000												
MYO1F	4542	broad.mit.edu	37	19	8609190	8609190	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:8609190G>A	uc002mkg.2	-	14	1629	c.1515C>T	c.(1513-1515)TAC>TAT	p.Y505Y		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	505	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CCTTGCCAGCGTAGTGGTGGA	0.682000												
ZNF317	57693	broad.mit.edu	37	19	9272026	9272026	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:9272026G>A	uc002mku.2	+	7	1980	c.1705G>A	c.(1705-1707)GAC>AAC	p.D569N	ZNF317_uc002mkv.2_Missense_Mutation_p.D428N|ZNF317_uc002mkw.2_Missense_Mutation_p.D537N|ZNF317_uc002mkx.2_Missense_Mutation_p.D484N|ZNF317_uc002mky.2_Missense_Mutation_p.D452N	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	569	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCCTTCAGCGACCACTCATC	0.577000												
PDE4A	5141	broad.mit.edu	37	19	10559812	10559812	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10559812C>T	uc002moj.2	+	4	714	c.606C>T	c.(604-606)CCC>CCT	p.P202P	PDE4A_uc002mok.2_Silent_p.P176P|PDE4A_uc002mol.2_Silent_p.P141P	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	202					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CCAATGTGCCCGTTCCCAGTA	0.468000												
DNM2	1785	broad.mit.edu	37	19	10934500	10934500	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10934500C>A	uc002mps.1	+	17	1982	c.1818C>A	c.(1816-1818)GCC>GCA	p.A606A	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Silent_p.A606A|DNM2_uc002mpv.1_Silent_p.A602A|DNM2_uc002mpu.1_Silent_p.A602A|DNM2_uc010dxl.1_Silent_p.A606A|DNM2_uc002mpw.2_Silent_p.A335A|DNM2_uc002mpx.1_Translation_Start_Site	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	606	PH.				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)			TCGAGCTGGCCTGTGACTCCC	0.652000												
YIPF2	78992	broad.mit.edu	37	19	11034828	11034828	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11034828G>A	uc002mqb.2	-	6	532	c.408C>T	c.(406-408)GCC>GCT	p.A136A	YIPF2_uc002mqc.2_Silent_p.A136A	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	136	Helical; (Potential).					integral to membrane|transport vesicle					0						TGCCAGTGACGGCCAGGACAA	0.652000												
SMARCA4	6597	broad.mit.edu	37	19	11097604	11097604	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11097604C>T	uc002mqf.3	+	5	1068	c.784C>T	c.(784-786)CCC>TCC	p.P262S	SMARCA4_uc010dxp.2_Missense_Mutation_p.P262S|SMARCA4_uc010dxo.2_Missense_Mutation_p.P262S|SMARCA4_uc002mqg.1_Missense_Mutation_p.P262S|SMARCA4_uc010dxq.2_Missense_Mutation_p.P262S|SMARCA4_uc010dxr.2_Missense_Mutation_p.P262S|SMARCA4_uc002mqj.3_Missense_Mutation_p.P262S|SMARCA4_uc010dxs.2_Missense_Mutation_p.P262S|SMARCA4_uc002mqe.2_Missense_Mutation_p.P262S	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	262	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAACATGCCTCCCCCAGGACC	0.647000			F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome			
DOCK6	57572	broad.mit.edu	37	19	11326072	11326072	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11326072C>T	uc002mqs.3	-	32	4138	c.4097G>A	c.(4096-4098)CGC>CAC	p.R1366H	DOCK6_uc010xlq.1_Missense_Mutation_p.R705H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1366					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTGTCCACGCGGTCTGAGGT	0.448000												
DOCK6	57572	broad.mit.edu	37	19	11356364	11356364	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11356364G>T	uc002mqs.3	-	9	939	c.898C>A	c.(898-900)CTG>ATG	p.L300M		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	300					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						TCCGAGTTCAGGTCGAAGTAG	0.622000												
ECSIT	51295	broad.mit.edu	37	19	11624767	11624767	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:11624767G>A	uc002msb.2	-	3	500	c.366C>T	c.(364-366)GTC>GTT	p.V122V	ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Silent_p.V122V|ECSIT_uc010dyd.2_Silent_p.V122V|ECSIT_uc010xma.1_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	122					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1						GGTCCCGCTCGACACCATACT	0.587000												
ZNF625	90589	broad.mit.edu	37	19	12256320	12256320	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12256320T>C	uc002mth.2	-	4	1063	c.713A>G	c.(712-714)GAA>GGA	p.E238G	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.E272G	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	238	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTGCTTACATTCATAGGGCTT	0.448000												
ZNF799	90576	broad.mit.edu	37	19	12501535	12501535	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12501535G>T	uc010dyt.2	-	4	1827	c.1677C>A	c.(1675-1677)CCC>CCA	p.P559P	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GACACTCATAGGGTTTCTCTC	0.413000												
TNPO2	30000	broad.mit.edu	37	19	12822199	12822199	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12822199A>G	uc002muo.2	-	11	1213	c.1028T>C	c.(1027-1029)GTC>GCC	p.V343A	TNPO2_uc002mup.2_Missense_Mutation_p.V435A|TNPO2_uc002muq.2_Missense_Mutation_p.V343A|TNPO2_uc002mur.2_Missense_Mutation_p.V343A	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	343					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GGGCAGTGTGACCGTGCGTGA	0.607000												
JUNB	3726	broad.mit.edu	37	19	12903208	12903208	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12903208A>G	uc002mvc.2	+	1	899	c.623A>G	c.(622-624)TAC>TGC	p.Y208C	JUNB_uc002mvb.2_RNA	NM_002229	NP_002220	P17275	JUNB_HUMAN	jun B proto-oncogene	208						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			lung(2)|central_nervous_system(1)	3						GGGAGCTCGTACCCGACGACC	0.726000												
CC2D1A	54862	broad.mit.edu	37	19	14020713	14020713	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:14020713T>C	uc002mxo.2	+	2	437	c.138T>C	c.(136-138)GCT>GCC	p.A46A	CC2D1A_uc002mxn.2_Missense_Mutation_p.L6P|CC2D1A_uc002mxp.2_Silent_p.A46A	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	46					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AACTGGAGGCTGAGTTCTTGG	0.537000												
LPHN1	22859	broad.mit.edu	37	19	14271455	14271455	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:14271455G>T	uc010xnn.1	-	8	1875	c.1579C>A	c.(1579-1581)CCT>ACT	p.P527T	LPHN1_uc010xno.1_Missense_Mutation_p.P522T|uc002myf.2_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	527	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CTGAGGTCAGGGCCCCGGGGG	0.527000												
PKN1	5585	broad.mit.edu	37	19	14561159	14561159	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:14561159C>T	uc002myp.2	+	5	808	c.640C>T	c.(640-642)CGC>TGC	p.R214C	PKN1_uc002myq.2_Missense_Mutation_p.R220C	NM_002741	NP_002732	Q16512	PKN1_HUMAN	protein kinase N1 isoform 2	214	REM 3.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						TGTGGAGCTGCGCATCGAAGA	0.667000												
NOTCH3	4854	broad.mit.edu	37	19	15289908	15289908	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:15289908C>T	uc002nan.2	-	22	3722	c.3646G>A	c.(3646-3648)GCG>ACG	p.A1216T	NOTCH3_uc002nao.1_Missense_Mutation_p.A1164T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1216	Extracellular (Potential).|EGF-like 31.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGTGTGCCGCGTGGCAGGCA	0.637000												
AKAP8	10270	broad.mit.edu	37	19	15466095	15466095	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:15466095A>G	uc002nav.2	-	14	1771	c.1710T>C	c.(1708-1710)CCT>CCC	p.P570P	AKAP8_uc010dzy.2_Silent_p.P119P	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	570					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						CCACCTCCTCAGGTGTCTCTT	0.567000												
CHERP	10523	broad.mit.edu	37	19	16631029	16631029	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:16631029G>A	uc002nei.1	-	15	2467	c.2393C>T	c.(2392-2394)TCG>TTG	p.S798L	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.S337L	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	798	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						CCGGGACCGCGACTGGGACCG	0.672000												
CHERP	10523	broad.mit.edu	37	19	16641463	16641463	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:16641463T>G	uc002nei.1	-	7	883	c.809A>C	c.(808-810)AAC>ACC	p.N270T	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	270	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GAAGTAGCCGTTTTTCTCCCA	0.632000												
ANKLE1	126549	broad.mit.edu	37	19	17394613	17394613	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:17394613G>T	uc002nga.2	+	5	1316	c.1040G>T	c.(1039-1041)AGG>ATG	p.R347M	ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Missense_Mutation_p.R369M|ANKLE1_uc010xpn.1_Missense_Mutation_p.R401M|ANKLE1_uc002nfy.2_Missense_Mutation_p.R336M|ANKLE1_uc002nfz.2_Missense_Mutation_p.R53M	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat domain 41	347						nuclear envelope					0						ACAGGTGGCAGGGAACCTGTC	0.587000												
ABHD8	79575	broad.mit.edu	37	19	17405603	17405603	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:17405603C>A	uc002ngb.3	-	3	1053	c.813G>T	c.(811-813)AAG>AAT	p.K271N		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	271							hydrolase activity				0						TCATGATCACCTTGTGCACTA	0.597000												
FCHO1	23149	broad.mit.edu	37	19	17883346	17883346	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:17883346G>T	uc010ebb.2	+	9	864	c.675G>T	c.(673-675)ACG>ACT	p.T225T	FCHO1_uc002nhg.3_Silent_p.T225T|FCHO1_uc002nhh.2_Silent_p.T225T|FCHO1_uc010xpw.1_Silent_p.T175T|FCHO1_uc010ebc.1_Silent_p.T232T	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	225										breast(1)	1						TGGAGGACACGCACGTGCAGA	0.617000												
PIK3R2	5296	broad.mit.edu	37	19	18273783	18273783	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18273783C>T	uc002nia.1	+	10	1628	c.1116C>T	c.(1114-1116)GGC>GGT	p.G372G	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	372	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						CCAGGAAAGGCGGGAACAATA	0.507000												
KIAA1683	80726	broad.mit.edu	37	19	18376524	18376524	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18376524C>T	uc002nin.2	-	3	2042	c.1826G>A	c.(1825-1827)GGC>GAC	p.G609D	KIAA1683_uc010ebn.2_Missense_Mutation_p.G609D|KIAA1683_uc010xqe.1_Missense_Mutation_p.G563D	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	609						mitochondrion				ovary(2)	2						TTTCTGGGTGCCAGTCTTGAT	0.562000												
ELL	8178	broad.mit.edu	37	19	18561556	18561556	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18561556T>C	uc002njh.2	-	8	1268	c.1196A>G	c.(1195-1197)GAT>GGT	p.D399G	ELL_uc010ebq.2_Missense_Mutation_p.D342G|ELL_uc002njg.2_Missense_Mutation_p.D266G	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	399					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		ATTGCTGACATCGGCCAGGGG	0.741000			T	MLL	AL							
CRTC1	23373	broad.mit.edu	37	19	18876242	18876242	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18876242G>A	uc002nkb.3	+	9	1003	c.915G>A	c.(913-915)CAG>CAA	p.Q305Q	CRTC1_uc010ebv.2_Silent_p.Q321Q|CRTC1_uc010ebw.2_Silent_p.Q170Q|CRTC1_uc002nkc.3_Silent_p.Q170Q	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN	mucoepidermoid carcinoma translocated 1 isoform	305	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						CCTCTCCACAGCACCGCCCAG	0.622000												
COMP	1311	broad.mit.edu	37	19	18899282	18899282	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:18899282G>A	uc002nke.2	-	8	840	c.804C>T	c.(802-804)CGC>CGT	p.R268R	COMP_uc002nkd.2_Silent_p.R235R|COMP_uc010xqj.1_Silent_p.R215R	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	268	TSP type-3 1.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0						GGTCAGTGTCGCGACCACAGA	0.701000												
SF4	57794	broad.mit.edu	37	19	19407809	19407809	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19407809G>A	uc002nmh.2	-	8	1234	c.1232C>T	c.(1231-1233)TCG>TTG	p.S411L	SF4_uc002nmf.2_5'UTR|SF4_uc002nmg.2_5'UTR|SF4_uc002nmi.2_Missense_Mutation_p.S201L|SF4_uc002nmj.2_Missense_Mutation_p.S201L|SF4_uc010xqr.1_RNA	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	411					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						TGACAGAGGCGAGGGAGAGGC	0.463000												
KIAA0892	23383	broad.mit.edu	37	19	19455695	19455695	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19455695G>T	uc002nmk.3	+	11	1154	c.1115G>T	c.(1114-1116)CGG>CTG	p.R372L	KIAA0892_uc002nml.3_5'UTR|KIAA0892_uc010ecd.2_5'Flank|KIAA0892_uc010ece.2_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	hypothetical protein LOC23383 precursor	372					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding				0						CAGTCCCCCCGGCTCTTCTCC	0.577000												
GATAD2A	54815	broad.mit.edu	37	19	19613208	19613208	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19613208A>G	uc010xqt.1	+	11	1956	c.1644A>G	c.(1642-1644)TCA>TCG	p.S548S	GATAD2A_uc010xqu.1_Silent_p.S177S|GATAD2A_uc010xqv.1_Silent_p.S568S|GATAD2A_uc010xqw.1_Silent_p.S351S	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	548					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TCAGTCCGTCACCCAAACTGC	0.662000												
GMIP	51291	broad.mit.edu	37	19	19751333	19751333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19751333C>T	uc002nnd.2	-	5	403	c.286G>A	c.(286-288)GCA>ACA	p.A96T	GMIP_uc010xrb.1_Missense_Mutation_p.A96T|GMIP_uc010xrc.1_Missense_Mutation_p.A96T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	96					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						TCCAGGGCTGCGTCCACACCC	0.577000												
ATP13A1	57130	broad.mit.edu	37	19	19758069	19758069	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19758069C>A	uc002nnh.3	-	22	3002	c.2974G>T	c.(2974-2976)GCG>TCG	p.A992S	ATP13A1_uc002nne.2_Missense_Mutation_p.A132S|ATP13A1_uc002nnf.3_Missense_Mutation_p.A360S|ATP13A1_uc002nng.2_Missense_Mutation_p.A874S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	992	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						GCATTGAGCGCCAGGATCTTG	0.627000												
ATP13A1	57130	broad.mit.edu	37	19	19770428	19770428	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19770428T>C	uc002nnh.3	-	3	687	c.659A>G	c.(658-660)AAG>AGG	p.K220R	ATP13A1_uc002nng.2_Missense_Mutation_p.K102R	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	220	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CCCAAATTTCTTCTCAGCTGC	0.527000												
ZNF506	440515	broad.mit.edu	37	19	19905686	19905686	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:19905686C>T	uc010eci.2	-	4	1158	c.1010G>A	c.(1009-1011)GGA>GAA	p.G337E	ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.G305E	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	zinc finger protein 506 isoform 1	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding				0						GGGTACATCTCCAGTATGAAT	0.403000												
ZNF676	163223	broad.mit.edu	37	19	22363929	22363929	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:22363929T>A	uc002nqs.1	-	3	908	c.590A>T	c.(589-591)TAC>TTC	p.Y197F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	197	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCACATTTGTAGGGTTTCTC	0.353000												
ZNF91	7644	broad.mit.edu	37	19	23543932	23543932	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:23543932G>T	uc002nre.2	-	4	1962	c.1849C>A	c.(1849-1851)CTA>ATA	p.L617I	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.L585I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	617	C2H2-type 17.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTCTTCTTAGGGTTGAGGAC	0.388000												
ZNF536	9745	broad.mit.edu	37	19	30934699	30934699	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:30934699T>C	uc002nsu.1	+	2	368	c.230T>C	c.(229-231)ATG>ACG	p.M77T	ZNF536_uc010edd.1_Missense_Mutation_p.M77T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	77					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)					GGCCAGCCCATGGGCAGTCAG	0.682000												
TSHZ3	57616	broad.mit.edu	37	19	31769334	31769334	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:31769334G>T	uc002nsy.3	-	2	1430	c.1365C>A	c.(1363-1365)CCC>CCA	p.P455P		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	455					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					GTGTATTGGAGGGGGACGTGA	0.552000												
SLC7A9	11136	broad.mit.edu	37	19	33350757	33350757	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:33350757G>A	uc002ntv.3	-	8	980	c.863C>T	c.(862-864)GCG>GTG	p.A288V	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.A288V|SLC7A9_uc002ntw.3_Missense_Mutation_p.A79V	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	288	Extracellular (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGCCACCGCCTGGGACTG	0.632000												
LSM14A	26065	broad.mit.edu	37	19	34712563	34712563	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:34712563A>G	uc002nvb.3	+	9	1484	c.1288A>G	c.(1288-1290)ACC>GCC	p.T430A	LSM14A_uc002nva.3_Missense_Mutation_p.T430A|LSM14A_uc010xru.1_Missense_Mutation_p.T389A|LSM14A_uc002nvc.3_Missense_Mutation_p.T236A	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	430					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)					CAGAGGTGGTACCTTCACTGC	0.562000												
MAG	4099	broad.mit.edu	37	19	35791237	35791237	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:35791237C>T	uc002nyy.1	+	6	1049	c.900C>T	c.(898-900)GAC>GAT	p.D300D	MAG_uc002nyx.1_Silent_p.D300D|MAG_uc010eds.1_Silent_p.D275D|MAG_uc002nyz.1_Silent_p.D300D	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	300	Ig-like C2-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGCCGAAGACGGCGTCTATG	0.687000												
SBSN	374897	broad.mit.edu	37	19	36017595	36017595	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36017595G>A	uc002oae.1	-	2	630	c.560C>T	c.(559-561)GCT>GTT	p.A187V	SBSN_uc002oad.1_Missense_Mutation_p.A530V	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	suprabasin isoform 2 precursor	187	Ala/Gly/His-rich.					extracellular region				ovary(1)	1	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCATTATGAGCATTCTGCAG	0.607000												
ATP4A	495	broad.mit.edu	37	19	36042379	36042379	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36042379C>T	uc002oal.1	-	19	2884	c.2855G>A	c.(2854-2856)CGT>CAT	p.R952H	ATP4A_uc010eee.1_Missense_Mutation_p.R110H	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	952	Cytoplasmic (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			ovary(1)	1	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCAGAGAGACGGCGCGTCTT	0.597000												
POLR2I	5438	broad.mit.edu	37	19	36605757	36605757	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36605757A>G	uc002ode.2	-	1	450	c.2T>C	c.(1-3)ATG>ACG	p.M1T	POLR2I_uc002odf.2_RNA|TBCB_uc002odg.1_5'Flank|TBCB_uc002odh.1_5'Flank	NM_006233	NP_006224	P36954	RPB9_HUMAN	DNA directed RNA polymerase II polypeptide I	1					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCGGGCTCCATGGCGACGCG	0.682000												
CAPNS1	826	broad.mit.edu	37	19	36637205	36637205	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36637205G>A	uc002odj.2	+	9	869	c.712G>A	c.(712-714)GCC>ACC	p.A238T	CAPNS1_uc002odi.1_Missense_Mutation_p.A238T|CAPNS1_uc002odk.2_Missense_Mutation_p.A238T|CAPNS1_uc002odl.2_Missense_Mutation_p.A238T	NM_001749	NP_001740	P04632	CPNS1_HUMAN	calpain, small subunit 1	238	EF-hand 5.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGCTGGACGCCATGTTCCG	0.423000												
RYR1	6261	broad.mit.edu	37	19	38948932	38948932	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:38948932G>A	uc002oit.2	+	18	2297	c.2167G>A	c.(2167-2169)GGA>AGA	p.G723R	RYR1_uc002oiu.2_Missense_Mutation_p.G723R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	723	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTCTGGACAGGTACCTGACC	0.617000												
RYR1	6261	broad.mit.edu	37	19	39068588	39068588	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:39068588C>T	uc002oit.2	+	98	14333	c.14203C>T	c.(14203-14205)CGG>TGG	p.R4735W	RYR1_uc002oiu.2_Missense_Mutation_p.R4730W	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4735					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)	CATCTACGGGCGGGAGCGGAT	0.617000												
HNRNPL	3191	broad.mit.edu	37	19	39334550	39334550	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:39334550G>A	uc010xul.1	-	6	823	c.812C>T	c.(811-813)ACA>ATA	p.T271I	HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Missense_Mutation_p.T138I|HNRNPL_uc010xun.1_5'UTR	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	271					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ATTCAAGCGTGTAGGCTGCAA	0.488000												
ZFP36	7538	broad.mit.edu	37	19	39898949	39898949	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:39898949A>G	uc002olh.1	+	2	649	c.591A>G	c.(589-591)TCA>TCG	p.S197S	ZFP36_uc010egn.1_Missense_Mutation_p.H70R	NM_003407	NP_003398	P26651	TTP_HUMAN	zinc finger protein 36, C3H type, homolog	197					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			pancreas(1)	1	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCGGACCTCACCACCACCAC	0.687000												
DYRK1B	9149	broad.mit.edu	37	19	40319090	40319090	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:40319090C>T	uc002omj.2	-	6	934	c.654G>A	c.(652-654)GCG>GCA	p.A218A	DYRK1B_uc002omi.2_Silent_p.A218A|DYRK1B_uc002omk.2_Silent_p.A218A	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	218	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGAGCTGCTGCGCCAGCTTCC	0.597000												
FCGBP	8857	broad.mit.edu	37	19	40364151	40364151	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:40364151C>T	uc002omp.3	-	31	14499	c.14491G>A	c.(14491-14493)GCA>ACA	p.A4831T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4831						extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACAGGCTGCGCCCTCCTGG	0.672000												
SPTBN4	57731	broad.mit.edu	37	19	41008833	41008833	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:41008833T>C	uc002ony.2	+	11	1441	c.1355T>C	c.(1354-1356)GTC>GCC	p.V452A	SPTBN4_uc002onx.2_Missense_Mutation_p.V452A|SPTBN4_uc002onz.2_Missense_Mutation_p.V452A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	452	Spectrin 3.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGCGTCTGGTCTCCCAGGTA	0.577000												
ADCK4	79934	broad.mit.edu	37	19	41220300	41220300	+	Silent	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:41220300T>A	uc002oor.2	-	3	407	c.105A>T	c.(103-105)GGA>GGT	p.G35G	ADCK4_uc002ooq.1_Silent_p.G35G|ADCK4_uc002oos.2_Silent_p.G35G|ITPKC_uc002oot.2_5'Flank	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4 isoform a	35						integral to membrane	protein serine/threonine kinase activity				0			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CTCCACATGGTCCCTGCAAGA	0.587000												
CEACAM5	1048	broad.mit.edu	37	19	42224958	42224958	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:42224958A>G	uc002ork.2	+	8	2009	c.1888A>G	c.(1888-1890)AAT>GAT	p.N630D	CEACAM5_uc002orj.1_Missense_Mutation_p.N629D|CEACAM5_uc002orl.2_Missense_Mutation_p.N630D	NM_004363	NP_004354	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion	630	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				skin(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TTGGCGTATCAATGGGATACC	0.507000												
PSG3	5671	broad.mit.edu	37	19	43237181	43237181	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:43237181T>C	uc002oue.2	-	3	596	c.464A>G	c.(463-465)AAC>AGC	p.N155S	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.N177S	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	155	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GGGGTATAAGTTGCTGCTGGA	0.527000												
PSG3	5671	broad.mit.edu	37	19	43243059	43243059	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:43243059C>T	uc002oue.2	-	2	379	c.247G>A	c.(247-249)GTA>ATA	p.V83I	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.V105I	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	83	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				CCATCTACTACGTATGATGTA	0.443000												
PSG6	5675	broad.mit.edu	37	19	43529018	43529018	+	Silent	SNP	G	G	A	rs138426313		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:43529018G>A	uc002ovh.1	-	2	362	c.273C>T	c.(271-273)GAC>GAT	p.D91D	PSG11_uc002ouw.2_Silent_p.D91D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Silent_p.D91D|PSG11_uc002ovm.1_Silent_p.D85D|PSG11_uc002ovn.1_Silent_p.D91D|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron			Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				TTATTTGACCGTCTACTACAT	0.443000												
ZNF230	7773	broad.mit.edu	37	19	44515243	44515243	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:44515243T>C	uc002oyb.1	+	5	1303	c.1052T>C	c.(1051-1053)CTT>CCT	p.L351P		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	351	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TCCTCATATCTTTTGATCCAT	0.428000												
ZNF180	7733	broad.mit.edu	37	19	45001352	45001352	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:45001352G>A	uc002ozf.3	-	2	398	c.116C>T	c.(115-117)CCG>CTG	p.P39L	ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Missense_Mutation_p.P12L|ZNF180_uc002ozg.3_Missense_Mutation_p.P38L|ZNF180_uc010ejm.2_Missense_Mutation_p.P39L	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				ACAGGCCTTCGGGGGCTCTGG	0.617000												
NKPD1	284353	broad.mit.edu	37	19	45655872	45655872	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:45655872C>T	uc010xxi.1	-	4	1823	c.1823G>A	c.(1822-1824)CGC>CAC	p.R608H		NM_198478	NP_940880			NTPase, KAP family P-loop domain containing 1												0		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GAGGCAGTCGCGCTCGTCGTG	0.701000												
EML2	24139	broad.mit.edu	37	19	46122427	46122427	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:46122427C>T	uc002pcn.2	-	12	1180	c.1145G>A	c.(1144-1146)GGC>GAC	p.G382D	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.G266D|EML2_uc010xxl.1_Missense_Mutation_p.G529D|EML2_uc010xxm.1_Missense_Mutation_p.G583D|EML2_uc010xxn.1_RNA	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	382	WD 6.				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TGTGGCCAGGCCCCACAGCTC	0.602000												
SIX5	147912	broad.mit.edu	37	19	46271470	46271470	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:46271470G>T	uc002pdb.2	-	1	1028	c.633C>A	c.(631-633)CGC>CGA	p.R211R	SIX5_uc002pdc.2_Silent_p.R211R	NM_175875	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	211	Homeobox.					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CTGCGCGGGAGCGCTCCTTGA	0.672000												
PRKD2	25865	broad.mit.edu	37	19	47201084	47201084	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47201084A>G	uc002pfh.2	-	9	1487	c.1145T>C	c.(1144-1146)ATG>ACG	p.M382T	PRKD2_uc002pfe.2_5'Flank|PRKD2_uc002pff.2_5'Flank|PRKD2_uc002pfg.2_Missense_Mutation_p.M225T|PRKD2_uc002pfi.2_Missense_Mutation_p.M382T|PRKD2_uc002pfj.2_Missense_Mutation_p.M382T|PRKD2_uc010xye.1_Missense_Mutation_p.M382T|PRKD2_uc002pfk.2_Missense_Mutation_p.M225T	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	382					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCACCCTCATTAGGGGGAT	0.577000												
STRN4	29888	broad.mit.edu	37	19	47228899	47228899	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47228899C>T	uc002pfl.2	-	10	1288	c.1255G>A	c.(1255-1257)GAC>AAC	p.D419N	STRN4_uc002pfm.2_Missense_Mutation_p.D426N|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	419						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)		TCTTTGCTGTCAGACAGCTGG	0.602000												
FKRP	79147	broad.mit.edu	37	19	47260136	47260136	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47260136G>A	uc002pfn.2	+	4	1726	c.1429G>A	c.(1429-1431)GTC>ATC	p.V477I	FKRP_uc002pfp.2_Missense_Mutation_p.V477I	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	fukutin-related protein	477						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			pancreas(1)	1		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGGGCCCGGGGTCATCGAGAA	0.642000												
SLC1A5	6510	broad.mit.edu	37	19	47280536	47280536	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47280536G>A	uc002pfs.2	-	6	1805	c.1185C>T	c.(1183-1185)TGC>TGT	p.C395C	SLC1A5_uc010xyh.1_Silent_p.C193C|SLC1A5_uc002pfq.2_Silent_p.C219C|SLC1A5_uc002pfr.2_Silent_p.C167C	NM_005628	NP_005619	Q15758	AAAT_HUMAN	solute carrier family 1 member 5 isoform 1	395	Helical; (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity				0		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTGCGGCCACGCACTGGAAGA	0.602000												
NPAS1	4861	broad.mit.edu	37	19	47548495	47548495	+	Silent	SNP	C	C	T	rs147026903		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47548495C>T	uc002pfw.2	+	12	1555	c.1359C>T	c.(1357-1359)AAC>AAT	p.N453N	NPAS1_uc002pfx.2_Silent_p.N278N|NPAS1_uc002pfy.2_Silent_p.N453N|NPAS1_uc010xyj.1_3'UTR	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	453					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity				0		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CAGCGGAGAACGAGGCCCCCC	0.662000												
DHX34	9704	broad.mit.edu	37	19	47856680	47856680	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:47856680T>C	uc010xyn.1	+	2	734	c.393T>C	c.(391-393)GCT>GCC	p.A131A	DHX34_uc010elc.1_Silent_p.A131A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	131						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGAGAGTGGCTGAGTTCCGCC	0.647000												
LIG1	3978	broad.mit.edu	37	19	48657203	48657203	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:48657203C>T	uc002pia.1	-	6	512	c.392G>A	c.(391-393)CGG>CAG	p.R131Q	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.R101Q|LIG1_uc010xzh.1_Intron	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	131					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTGAATGGTCCGTTTCGGGAG	0.358000								NER				
DBP	1628	broad.mit.edu	37	19	49140174	49140174	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49140174T>C	uc002pjx.3	-	1	466	c.78A>G	c.(76-78)GGA>GGG	p.G26G	SEC1_uc010xzv.1_5'Flank|SEC1_uc002pka.2_5'Flank|SEC1_uc010xzw.1_5'Flank|SEC1_uc010ema.2_5'Flank|DBP_uc002pjy.2_Silent_p.G26G|DBP_uc010elz.1_Silent_p.G26G	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	26					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CAAGCAGCGCTCCCCCGCCAG	0.711000												
GYS1	2997	broad.mit.edu	37	19	49472668	49472668	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49472668C>T	uc002plp.2	-	16	2332	c.2091G>A	c.(2089-2091)GCG>GCA	p.A697A	GYS1_uc010xzy.1_Silent_p.A330A|GYS1_uc010emm.2_Silent_p.A633A|GYS1_uc010xzz.1_Silent_p.A617A	NM_002103	NP_002094	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle) isoform 1	697					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			ovary(2)	2		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGGTGCAGGACGCTCGGCGCG	0.697000												
RUVBL2	10856	broad.mit.edu	37	19	49510567	49510567	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49510567C>T	uc002plr.1	+	6	417	c.404C>T	c.(403-405)ACG>ATG	p.T135M	RUVBL2_uc002plq.1_Missense_Mutation_p.T90M|RUVBL2_uc010yab.1_Missense_Mutation_p.T135M|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.T90M|RUVBL2_uc010yac.1_Missense_Mutation_p.T90M	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2	135					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		AGGGAGGAGACGGAGATCATC	0.587000												
RPL13A	23521	broad.mit.edu	37	19	49994304	49994304	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:49994304G>A	uc002pny.2	+	6	372	c.350G>A	c.(349-351)CGG>CAG	p.R117Q	RPL13A_uc002pnz.2_Missense_Mutation_p.R56Q|RPL13A_uc002poa.2_Missense_Mutation_p.R107Q|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	ribosomal protein L13a	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CAGAAAAAGCGGATGGTGGTT	0.562000												
PRR12	57479	broad.mit.edu	37	19	50099557	50099557	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50099557C>A	uc002poo.3	+	4	1965	c.1965C>A	c.(1963-1965)ACC>ACA	p.T655T		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)		CTCCTCGGACCTCAGGGGCGG	0.706000												
PRR12	57479	broad.mit.edu	37	19	50102912	50102912	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50102912T>C	uc002poo.3	+	5	4062	c.4062T>C	c.(4060-4062)GGT>GGC	p.G1354G		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	533	Pro-rich.						DNA binding			central_nervous_system(1)|pancreas(1)	2		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGAGTGAGGGTCTGGGGCTTG	0.667000												
PRMT1	3276	broad.mit.edu	37	19	50191500	50191500	+	Nonstop_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50191500T>C	uc010enf.1	+	11	1156	c.1114T>C	c.(1114-1116)TGA>CGA	p.*372R	CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Nonstop_Mutation_p.*348R|PRMT1_uc002ppe.2_Nonstop_Mutation_p.*354R|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Nonstop_Mutation_p.*319R|PRMT1_uc010ybb.1_RNA|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	372						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CCGGATGCGCTGAGGCCCGGC	0.687000												
ZNF473	25888	broad.mit.edu	37	19	50542460	50542460	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50542460G>A	uc002prn.2	+	3	289	c.52G>A	c.(52-54)GGA>AGA	p.G18R	ZNF473_uc002prm.2_Missense_Mutation_p.G18R|ZNF473_uc010ybo.1_Missense_Mutation_p.G6R	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	18	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CTTCACCTTGGGAGACTGGGA	0.572000												
POLD1	5424	broad.mit.edu	37	19	50905899	50905899	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50905899C>A	uc002psb.3	+	8	927	c.871C>A	c.(871-873)CTG>ATG	p.L291M	POLD1_uc002psc.3_Missense_Mutation_p.L291M|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.L291M	NM_002691	NP_002682	P28340	DPOD1_HUMAN	DNA-directed DNA polymerase delta 1	291					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCGGACGTGCTGTGGTCTGA	0.682000								DNA_polymerases_(catalytic_subunits)				
SHANK1	50944	broad.mit.edu	37	19	51172384	51172384	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:51172384G>T	uc002psx.1	-	22	2852	c.2833C>A	c.(2833-2835)CTC>ATC	p.L945I	SHANK1_uc002psw.1_Missense_Mutation_p.L329I	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	945					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGGGGTGAGGCGCCCTGAG	0.711000												
SHANK1	50944	broad.mit.edu	37	19	51215284	51215284	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:51215284G>A	uc002psx.1	-	6	899	c.880C>T	c.(880-882)CCC>TCC	p.P294S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	294	ANK 3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGCATCGGGGGTCACCACCC	0.627000												
ZNF613	79898	broad.mit.edu	37	19	52448330	52448330	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:52448330A>C	uc002pxz.1	+	6	1617	c.1194A>C	c.(1192-1194)AAA>AAC	p.K398N	ZNF613_uc002pya.1_Missense_Mutation_p.K362N	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN	zinc finger protein 613 isoform 1	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTGGAGAAAAACCCTATATAT	0.413000												
ZNF615	284370	broad.mit.edu	37	19	52497205	52497205	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:52497205T>G	uc002pye.1	-	6	1416	c.1124A>C	c.(1123-1125)AAT>ACT	p.N375T	ZNF615_uc002pyf.1_Missense_Mutation_p.N386T|ZNF615_uc002pyg.1_Missense_Mutation_p.N267T|ZNF615_uc002pyh.1_Missense_Mutation_p.N386T|ZNF615_uc010epi.1_Missense_Mutation_p.N382T|ZNF615_uc010ydg.1_Missense_Mutation_p.N380T	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	375	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CCCACATTTATTGCATATAAA	0.383000												
RPS9	6203	broad.mit.edu	37	19	54711410	54711410	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54711410G>T	uc002qdx.2	+	5	608	c.552G>T	c.(550-552)GGG>GGT	p.G184G	RPS9_uc002qdy.2_3'UTR|RPS9_uc002qdz.2_Silent_p.G184G|RPS9_uc002qea.2_Silent_p.G184G|RPS9_uc002qeb.2_3'UTR|RPS9_uc002qec.2_RNA|RPS9_uc002qed.1_3'UTR	NM_001013	NP_001004	P46781	RS9_HUMAN	ribosomal protein S9	184					endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			breast(1)	1	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		GCCAGGGTGGGGCTGGGGCTG	0.602000												
LILRB3	11025	broad.mit.edu	37	19	54746018	54746018	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54746018T>G	uc010erh.1	-	3	363	c.239A>C	c.(238-240)AAG>ACG	p.K80T	LILRA6_uc002qew.1_Missense_Mutation_p.K80T|LILRB3_uc002qeh.1_Missense_Mutation_p.K80T|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.K80T|LILRA6_uc002qek.1_Missense_Mutation_p.K80T|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.K80T|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.K80T|LILRB3_uc002qep.1_Missense_Mutation_p.K80T|LILRB3_uc002qeq.1_Missense_Mutation_p.K80T|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.K80T|LILRA6_uc010yep.1_Missense_Mutation_p.K80T|LILRA6_uc010yeq.1_Missense_Mutation_p.K80T|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.K80T|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	80	Extracellular (Potential).|Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAATCTGGCCTTGTTCTTGGG	0.572000												
TTYH1	57348	broad.mit.edu	37	19	54930326	54930326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54930326G>A	uc002qfq.2	+	2	243	c.151G>A	c.(151-153)GCG>ACG	p.A51T	TTYH1_uc010yey.1_Missense_Mutation_p.A100T|TTYH1_uc002qfr.2_Missense_Mutation_p.A51T|TTYH1_uc002qft.2_Missense_Mutation_p.A51T|TTYH1_uc002qfu.1_5'Flank	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN	tweety 1 isoform 1	51	Helical; Name=1; (Potential).				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GGCGGCCTTGGCGGGCCTGGG	0.667000												
LAIR2	3904	broad.mit.edu	37	19	55020282	55020282	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:55020282C>T	uc002qgc.2	+	4	524	c.402C>T	c.(400-402)CCC>CCT	p.P134P	LAIR2_uc002qgd.2_Intron|LAIR2_uc010erl.2_Missense_Mutation_p.P103L	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like	134						extracellular region	receptor activity			ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		ACACAGAGCCCGGCTCCTCAG	0.632000												
NLRP7	199713	broad.mit.edu	37	19	55447772	55447772	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:55447772C>T	uc002qih.3	-	6	2233	c.2157G>A	c.(2155-2157)GCG>GCA	p.A719A	NLRP7_uc002qig.3_Silent_p.A691A|NLRP7_uc002qii.3_Silent_p.A719A|NLRP7_uc010esk.2_Silent_p.A719A|NLRP7_uc010esl.2_Silent_p.A747A	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	719							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		AGTCCCGGTACGCGGTGTCAG	0.493000												
ZNF628	89887	broad.mit.edu	37	19	55992708	55992708	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:55992708C>T	uc002qld.2	+	3	701	c.136C>T	c.(136-138)CGG>TGG	p.R46W		NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	46	C2H2-type 1.					nucleus	DNA binding|zinc ion binding				0	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTGGTCGTCCCGGCTCCTGCA	0.687000												
CCDC106	29903	broad.mit.edu	37	19	56163920	56163920	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:56163920G>A	uc002qlr.2	+	6	1386	c.651G>A	c.(649-651)ACG>ACA	p.T217T	CCDC106_uc002qls.2_Silent_p.T217T|U2AF2_uc002qlt.2_5'Flank|U2AF2_uc002qlu.2_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	217						nucleus					0		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGCTGACCACGCCCATCGCCG	0.662000												
U2AF2	11338	broad.mit.edu	37	19	56179935	56179935	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:56179935T>C	uc002qlu.2	+	8	1860	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	U2AF2_uc002qlt.2_Missense_Mutation_p.Y269H	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	269	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTTACCCAACTACCTGAACGA	0.602000												
NLRP9	338321	broad.mit.edu	37	19	56243791	56243791	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:56243791G>A	uc002qly.2	-	2	1434	c.1406C>T	c.(1405-1407)GCC>GTC	p.A469V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	469						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCTTCCAATGGCCGGGTTAGG	0.468000												
ZNF71	58491	broad.mit.edu	37	19	57133202	57133202	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57133202G>A	uc002qnm.3	+	3	785	c.547G>A	c.(547-549)GAG>AAG	p.E183K		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACACGGGCGAGAAGCCCTA	0.622000												
ZNF835	90485	broad.mit.edu	37	19	57175364	57175364	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57175364G>A	uc010ygo.1	-	2	1269	c.1269C>T	c.(1267-1269)CAC>CAT	p.H423H	ZNF835_uc010ygn.1_Silent_p.H401H	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GCGAGGACACGTGGCTGAAGG	0.662000												
ZNF835	90485	broad.mit.edu	37	19	57175366	57175366	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57175366G>T	uc010ygo.1	-	2	1267	c.1267C>A	c.(1267-1269)CAC>AAC	p.H423N	ZNF835_uc010ygn.1_Missense_Mutation_p.H401N	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GAGGACACGTGGCTGAAGGCG	0.662000												
ZIM2	23619	broad.mit.edu	37	19	57286338	57286338	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57286338A>G	uc002qnr.2	-	11	1684	c.1302T>C	c.(1300-1302)CAT>CAC	p.H434H	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Silent_p.H230H|ZIM2_uc010ygr.1_Silent_p.H230H|ZIM2_uc002qnq.2_Silent_p.H434H|ZIM2_uc010etp.2_Silent_p.H434H|ZIM2_uc010ygs.1_Silent_p.H434H	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	434	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TTGCTGCCTCATGGGCTTTGA	0.463000												
AURKC	6795	broad.mit.edu	37	19	57743435	57743435	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57743435C>T	uc002qoe.2	+	3	328	c.139C>T	c.(139-141)CGT>TGT	p.R47C	AURKC_uc002qoc.2_Missense_Mutation_p.R28C|AURKC_uc002qod.2_Missense_Mutation_p.R13C|AURKC_uc010etv.2_Missense_Mutation_p.R44C	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN	aurora kinase C isoform 1	47	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			lung(4)|ovary(2)	6		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGAAATCGGGCGTCCCCTGGG	0.542000												
ZNF460	10794	broad.mit.edu	37	19	57803526	57803526	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57803526G>A	uc002qog.2	+	3	1939	c.1617G>A	c.(1615-1617)ACG>ACA	p.T539T	ZNF460_uc010ygv.1_Silent_p.T498T	NM_006635	NP_006626	Q14592	ZN460_HUMAN	zinc finger protein 460	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATATGGAAACGCCTTCAATTG	0.463000												
PXDN	7837	broad.mit.edu	37	2	1652519	1652519	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:1652519G>A	uc002qxa.2	-	17	3097	c.3033C>T	c.(3031-3033)GGC>GGT	p.G1011G		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1011					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGATGGTGTCGCCGTCCCAGT	0.617000												
MYT1L	23040	broad.mit.edu	37	2	1906994	1906994	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:1906994C>T	uc002qxe.2	-	14	2717	c.1890G>A	c.(1888-1890)CCG>CCA	p.P630P	MYT1L_uc002qxd.2_Silent_p.P628P|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	630					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGAACGCGGCGTAGTTG	0.468000												
MBOAT2	129642	broad.mit.edu	37	2	9017342	9017342	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:9017342G>A	uc002qzg.1	-	7	641	c.508C>T	c.(508-510)CGC>TGC	p.R170C	MBOAT2_uc010yix.1_Missense_Mutation_p.R170C	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	O-acyltransferase (membrane bound) domain	170					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTGGCATGCGCCTGCAATGA	0.428000												
LPIN1	23175	broad.mit.edu	37	2	11922594	11922594	+	Missense_Mutation	SNP	C	C	A	rs146529487	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:11922594C>A	uc010yjn.1	+	8	1391	c.1117C>A	c.(1117-1119)CAG>AAG	p.Q373K	LPIN1_uc010yjm.1_Missense_Mutation_p.Q458K|LPIN1_uc002rbt.2_Missense_Mutation_p.Q373K|LPIN1_uc002rbs.2_Missense_Mutation_p.Q409K	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	lipin 1	373					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CAGTGTAGTCCAGACAGCAAA	0.512000												
KCNS3	3790	broad.mit.edu	37	2	18112978	18112978	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:18112978G>A	uc002rcv.2	+	3	1154	c.703G>A	c.(703-705)GGG>AGG	p.G235R	KCNS3_uc002rcw.2_Missense_Mutation_p.G235R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	235	Helical; Name=Segment S2; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGTTCACCGGGGAGCTTGC	0.517000												
ADCY3	109	broad.mit.edu	37	2	25141233	25141233	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:25141233G>A	uc002rfs.3	-	1	823	c.624C>T	c.(622-624)ACC>ACT	p.T208T	ADCY3_uc010ykm.1_Silent_p.T208T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	208					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCTGGGCCACGGTGACCCCCA	0.632000												
KIF3C	3797	broad.mit.edu	37	2	26152924	26152924	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:26152924C>T	uc002rgu.2	-	6	2672	c.2015G>A	c.(2014-2016)AGC>AAC	p.S672N	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.S670N	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	672	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCATCTGGCTGCTACTGCT	0.498000												
KIF3C	3797	broad.mit.edu	37	2	26204576	26204576	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:26204576C>T	uc002rgu.2	-	1	868	c.211G>A	c.(211-213)GCC>ACC	p.A71T	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.A71T	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	71	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACAGGTCGGCCTGCTTGGAG	0.632000												
DPYSL5	56896	broad.mit.edu	37	2	27121530	27121530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:27121530G>T	uc002rhu.3	+	2	321	c.163G>T	c.(163-165)GGA>TGA	p.G55*	DPYSL5_uc002rhv.3_Nonsense_Mutation_p.G55*	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	55					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACAGGAAAACTGGT	0.587000												
EMILIN1	11117	broad.mit.edu	37	2	27306623	27306623	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:27306623C>T	uc002rii.3	+	4	2612	c.2184C>T	c.(2182-2184)GGC>GGT	p.G728G	EMILIN1_uc002rik.3_5'UTR|KHK_uc002ril.2_5'Flank|KHK_uc002rim.2_5'Flank|KHK_uc002rin.2_5'Flank|KHK_uc002rio.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	728	Potential.				cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGATTGGGCCGTCTTGAGG	0.652000												
C2orf53	339779	broad.mit.edu	37	2	27361028	27361028	+	Missense_Mutation	SNP	C	C	T	rs149337790		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:27361028C>T	uc002rjb.2	-	3	750	c.170G>A	c.(169-171)CGT>CAT	p.R57H		NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	hypothetical protein LOC339779	57	Pro-rich.										0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGGACGACGGGACTGAGT	0.562000												
FOSL2	2355	broad.mit.edu	37	2	28631707	28631707	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:28631707C>T	uc002rma.2	+	3	1245	c.436C>T	c.(436-438)CGG>TGG	p.R146W	FOSL2_uc010ymi.1_Missense_Mutation_p.R107W	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	146	Basic motif.				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					GAACCGACGCCGGGAGCTGAC	0.647000												
PLB1	151056	broad.mit.edu	37	2	28812327	28812327	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:28812327A>G	uc002rmb.1	+	27	1826	c.1826A>G	c.(1825-1827)CAC>CGC	p.H609R	PLB1_uc010ezj.1_Missense_Mutation_p.H598R|PLB1_uc002rmc.2_Missense_Mutation_p.H297R|PLB1_uc002rmd.1_Missense_Mutation_p.H119R	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	609	4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGAAGACCCACCAACTGATT	0.483000												
XDH	7498	broad.mit.edu	37	2	31589790	31589790	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:31589790G>A	uc002rnv.1	-	21	2347	c.2268C>T	c.(2266-2268)GGC>GGT	p.G756G		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	756					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)	CCCCTGCCTCGCCTTTTGGAA	0.552000												
XDH	7498	broad.mit.edu	37	2	31625916	31625916	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:31625916G>A	uc002rnv.1	-	3	274	c.195C>T	c.(193-195)ATC>ATT	p.I65I		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	65	2Fe-2S ferredoxin-type.				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)	AAGGATACACGATCTTGTTCT	0.478000												
LTBP1	4052	broad.mit.edu	37	2	33468789	33468789	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:33468789G>A	uc002ros.2	+	10	1937	c.1937G>A	c.(1936-1938)GGC>GAC	p.G646D	LTBP1_uc002rot.2_Missense_Mutation_p.G320D|LTBP1_uc002rou.2_Missense_Mutation_p.G320D|LTBP1_uc002rov.2_Missense_Mutation_p.G320D|LTBP1_uc010ymz.1_Missense_Mutation_p.G320D|LTBP1_uc010yna.1_Missense_Mutation_p.G320D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	646	EGF-like 3; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AATACCATGGGCAGCTATCGA	0.393000												
LTBP1	4052	broad.mit.edu	37	2	33589401	33589401	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:33589401T>C	uc002ros.2	+	30	4521	c.4521T>C	c.(4519-4521)TGT>TGC	p.C1507C	LTBP1_uc002rot.2_Silent_p.C1181C|LTBP1_uc002rou.2_Silent_p.C1180C|LTBP1_uc002rov.2_Silent_p.C1127C|LTBP1_uc010ymz.1_Silent_p.C1138C|LTBP1_uc010yna.1_Silent_p.C1085C|LTBP1_uc010ynb.1_Silent_p.C404C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1506					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAAAAAGATGTATACGACCGG	0.418000												
CRIM1	51232	broad.mit.edu	37	2	36726453	36726453	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:36726453C>T	uc002rpd.2	+	8	1503	c.1464C>T	c.(1462-1464)CGC>CGT	p.R488R		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	488	Antistasin-like 1.|Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTTTCAAACGCGATCACAATG	0.408000												
VIT	5212	broad.mit.edu	37	2	37035886	37035886	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:37035886A>G	uc002rpl.2	+	15	1882	c.1661A>G	c.(1660-1662)TAC>TGC	p.Y554C	VIT_uc002rpm.2_Missense_Mutation_p.Y532C|VIT_uc010ezv.2_Missense_Mutation_p.Y510C|VIT_uc010ezw.2_Missense_Mutation_p.Y511C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	539	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				GCCGTGCAGTACACCTACGAA	0.587000												
STRN	6801	broad.mit.edu	37	2	37076914	37076914	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:37076914G>T	uc002rpn.2	-	17	2125	c.2116C>A	c.(2116-2118)CTA>ATA	p.L706I	STRN_uc010ezx.2_Missense_Mutation_p.L669I	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	706	WD 5.				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)				ACAGCTTCTAGGTGGGCTACC	0.398000												
SOCS5	9655	broad.mit.edu	37	2	46985744	46985744	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:46985744C>T	uc002rvf.2	+	2	239	c.75C>T	c.(73-75)AGC>AGT	p.S25S	SOCS5_uc010yoe.1_5'UTR|SOCS5_uc002rvg.2_Silent_p.S25S	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	25					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGGGAGGAAGCCGTAGTGAAA	0.393000												
MSH6	2956	broad.mit.edu	37	2	48027059	48027059	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:48027059A>G	uc002rwd.3	+	4	2089	c.1937A>G	c.(1936-1938)AAG>AGG	p.K646R	MSH6_uc002rwc.2_Missense_Mutation_p.K646R|MSH6_uc010fbj.2_Missense_Mutation_p.K344R|MSH6_uc010yoi.1_Missense_Mutation_p.K516R|MSH6_uc010yoj.1_Missense_Mutation_p.K344R	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	646					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTAGGGAAAAGCTAAGTGAT	0.448000			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
CCDC104	112942	broad.mit.edu	37	2	55746995	55746995	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:55746995C>A	uc002ryy.2	+	1	256	c.58C>A	c.(58-60)CTG>ATG	p.L20M	CCDC104_uc002ryx.2_Missense_Mutation_p.L20M	NM_080667	NP_542398	Q96G28	CC104_HUMAN	coiled-coil domain containing 104	20										ovary(1)	1			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGCGGGGTTCCTGCGAGGCCC	0.577000												
ADD2	119	broad.mit.edu	37	2	70903966	70903966	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:70903966G>A	uc002sgz.2	-	13	2020	c.1555C>T	c.(1555-1557)CTC>TTC	p.L519F	ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.L519F|ADD2_uc002sha.2_Missense_Mutation_p.L213F|ADD2_uc002sgx.2_Missense_Mutation_p.L519F|ADD2_uc010fdt.1_Missense_Mutation_p.L519F|ADD2_uc002shc.1_Missense_Mutation_p.L519F|ADD2_uc002shd.1_Missense_Mutation_p.L213F|ADD2_uc010fdu.1_Missense_Mutation_p.L535F	NM_001617	NP_001608	P35612	ADDB_HUMAN	adducin 2 isoform a	519					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			ovary(2)|pancreas(1)	3						CTCGCCAGGAGCTGGGACTGA	0.602000												
DYSF	8291	broad.mit.edu	37	2	71795421	71795421	+	Silent	SNP	G	G	A	rs148902254	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:71795421G>A	uc002sie.2	+	26	3139	c.2763G>A	c.(2761-2763)TCG>TCA	p.S921S	DYSF_uc010feg.2_Silent_p.S952S|DYSF_uc010feh.2_Silent_p.S907S|DYSF_uc002sig.3_Silent_p.S907S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.S921S|DYSF_uc010fef.2_Silent_p.S938S|DYSF_uc010fei.2_Silent_p.S938S|DYSF_uc010fek.2_Silent_p.S939S|DYSF_uc010fej.2_Silent_p.S908S|DYSF_uc010fel.2_Silent_p.S908S|DYSF_uc010feo.2_Silent_p.S953S|DYSF_uc010fem.2_Silent_p.S922S|DYSF_uc010fen.2_Silent_p.S939S|DYSF_uc002sif.2_Silent_p.S922S	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	921	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						TCCGCCCCTCGGCCGGCTGGA	0.642000												
TET3	200424	broad.mit.edu	37	2	74327911	74327911	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74327911C>T	uc002skb.3	+	9	3591	c.3591C>T	c.(3589-3591)TAC>TAT	p.Y1197Y		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1197							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GCCCGGCCTACGGTGGTGCTG	0.652000												
DCTN1	1639	broad.mit.edu	37	2	74596303	74596303	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74596303A>G	uc002skx.2	-	15	1934	c.1623T>C	c.(1621-1623)TCT>TCC	p.S541S	DCTN1_uc002skv.2_Silent_p.S407S|DCTN1_uc002sku.2_Silent_p.S407S|DCTN1_uc002skw.1_Silent_p.S517S|DCTN1_uc010ffd.2_Silent_p.S521S|DCTN1_uc002sky.2_Silent_p.S504S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	541	Potential.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						GCCTCTCCACAGATGCTTCCT	0.532000												
TTC31	64427	broad.mit.edu	37	2	74717792	74717792	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74717792C>T	uc002slt.2	+	5	495	c.472C>T	c.(472-474)CGC>TGC	p.R158C	TTC31_uc002sls.2_Missense_Mutation_p.R87C|TTC31_uc010yrv.1_Missense_Mutation_p.R14C|TTC31_uc002slu.2_Missense_Mutation_p.R14C	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	158	Potential.						binding				0						GGAAGCCAATCGCCTGGCTGA	0.527000												
SNRNP200	23020	broad.mit.edu	37	2	96940786	96940786	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:96940786A>G	uc002svu.2	-	45	6461	c.6375T>C	c.(6373-6375)GAT>GAC	p.D2125D	SNRNP200_uc002svt.2_Silent_p.D735D|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	2125						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CTTCTTTCACATCCACGCTGA	0.463000												
KIAA1310	55683	broad.mit.edu	37	2	97278221	97278221	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:97278221G>A	uc002swn.3	-	8	1138	c.992C>T	c.(991-993)GCA>GTA	p.A331V	KIAA1310_uc002swh.3_Missense_Mutation_p.A219V|KIAA1310_uc002swi.3_Missense_Mutation_p.A232V|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.A244V|KIAA1310_uc010fhz.2_Missense_Mutation_p.A125V|KIAA1310_uc002swl.3_Missense_Mutation_p.A232V|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.A125V|KIAA1310_uc002swp.1_Missense_Mutation_p.A232V|KIAA1310_uc002swq.1_Missense_Mutation_p.A103V|KIAA1310_uc010fhy.1_Missense_Mutation_p.A232V	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	331											0						GCTTCTCACTGCCCCAATCAT	0.517000												
TBC1D8	11138	broad.mit.edu	37	2	101644789	101644789	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:101644789C>T	uc010fiv.2	-	13	2414	c.2283G>A	c.(2281-2283)TCG>TCA	p.S761S	TBC1D8_uc002tau.3_Silent_p.S518S	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	761					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						GGATCAGGTCCGAAATATCAG	0.587000												
IL1R2	7850	broad.mit.edu	37	2	102626108	102626108	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:102626108C>A	uc002tbm.2	+	3	381	c.152C>A	c.(151-153)CCC>CAC	p.P51H	IL1R2_uc002tbn.2_Missense_Mutation_p.P51H|IL1R2_uc002tbo.1_Missense_Mutation_p.P51H	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	51	Extracellular (Potential).|Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	CTGAGGTGCCCCCAGGTGCCC	0.597000												
SLC9A4	389015	broad.mit.edu	37	2	103095324	103095324	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:103095324G>T	uc002tbz.3	+	2	740	c.283G>T	c.(283-285)GGC>TGC	p.G95C		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	95	Helical; Name=C/M3; (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CAGGCTGCCAGGCCTCATGCC	0.582000												
GPR45	11250	broad.mit.edu	37	2	105858772	105858772	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:105858772G>A	uc002tco.1	+	1	573	c.457G>A	c.(457-459)GCG>ACG	p.A153T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	153	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						GGTGATCATCGCGGTCTCCTG	0.682000												
C2orf40	84417	broad.mit.edu	37	2	106690423	106690423	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:106690423G>A	uc010fjf.2	+	3	317	c.209G>A	c.(208-210)CGG>CAG	p.R70Q		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	esophageal cancer related gene 4 protein	70						extracellular region|transport vesicle					0						CGCCAGAAGCGGCAGCTGTGG	0.552000												
SULT1C4	27233	broad.mit.edu	37	2	108994925	108994925	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:108994925G>T	uc002tea.1	+	1	505	c.132G>T	c.(130-132)AAG>AAT	p.K44N	SULT1C4_uc002tdz.2_Missense_Mutation_p.K44N|SULT1C4_uc010ywr.1_RNA|SULT1C4_uc002teb.1_Missense_Mutation_p.K44N	NM_006588	NP_006579	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member	44					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity				0						TCCAAGCCAAGCCTGATGACC	0.478000												
CCDC74B	91409	broad.mit.edu	37	2	130897929	130897929	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:130897929C>A	uc002tqm.1	-	5	761	c.699G>T	c.(697-699)GAG>GAT	p.E233D	CCDC74B_uc010yzw.1_Missense_Mutation_p.E335D|CCDC74B_uc002tqn.1_Missense_Mutation_p.E167D	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	233											0	Colorectal(110;0.1)					CGTTAGAGGCCTCTGCTTTCT	0.637000												
ARHGEF4	50649	broad.mit.edu	37	2	131801095	131801095	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:131801095A>G	uc002tsa.1	+	11	2058	c.1538A>G	c.(1537-1539)CAA>CGA	p.Q513R	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.Q513R|ARHGEF4_uc010fmx.1_Missense_Mutation_p.Q453R|ARHGEF4_uc002tsc.1_Missense_Mutation_p.Q56R	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor 4 isoform	513	PH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			breast(3)|ovary(2)|skin(1)	6		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		ACACAGCCTCAAGCCAAAAGC	0.532000												
R3HDM1	23518	broad.mit.edu	37	2	136396537	136396537	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:136396537C>T	uc002tuo.2	+	14	1434	c.1064C>T	c.(1063-1065)TCG>TTG	p.S355L	R3HDM1_uc010fni.2_Missense_Mutation_p.S353L|R3HDM1_uc002tup.2_Missense_Mutation_p.S299L|R3HDM1_uc010zbh.1_Missense_Mutation_p.S187L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	355							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTGAAGTACTCGGAACCACGA	0.438000												
MCM6	4175	broad.mit.edu	37	2	136614396	136614396	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:136614396A>G	uc002tuw.2	-	11	1604	c.1528T>C	c.(1528-1530)TAT>CAT	p.Y510H		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	510	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GATCTGTCATAGTGTCCACTG	0.388000												
THSD7B	80731	broad.mit.edu	37	2	137928415	137928415	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:137928415C>A	uc002tva.1	+	6	1537	c.1537C>A	c.(1537-1539)CGA>AGA	p.R513R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.R403R	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATGTGCTACCGATGGCTGGC	0.537000												
LRP1B	53353	broad.mit.edu	37	2	141660583	141660583	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:141660583G>A	uc002tvj.1	-	23	4644	c.3672C>T	c.(3670-3672)TGC>TGT	p.C1224C	LRP1B_uc010fnl.1_Silent_p.C406C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1224	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATACTTGGCTGCACTTTAGAT	0.418000										TSP Lung(27;0.18)		
LYPD6	130574	broad.mit.edu	37	2	150294262	150294262	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:150294262A>C	uc002twy.2	+	2	235	c.40A>C	c.(40-42)AGC>CGC	p.S14R	LYPD6_uc010fnt.2_RNA|LYPD6_uc002twz.2_RNA|LYPD6_uc002txa.2_Missense_Mutation_p.S14R	NM_194317	NP_919298	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6 precursor	14						extracellular region					0				BRCA - Breast invasive adenocarcinoma(221;0.0667)		CCTGCTCCTGAGCCTGCTGGC	0.552000												
RIF1	55183	broad.mit.edu	37	2	152285396	152285396	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152285396T>C	uc002txm.2	+	9	1015	c.885T>C	c.(883-885)ATT>ATC	p.I295I	RIF1_uc002txl.2_Silent_p.I295I|RIF1_uc010fnv.1_Silent_p.I259I|RIF1_uc002txn.2_Silent_p.I295I|RIF1_uc002txo.2_Silent_p.I295I|RIF1_uc010zby.1_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	295					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGCTTTTATTGCTTGGAAGA	0.318000												
NEB	4703	broad.mit.edu	37	2	152482131	152482131	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152482131C>T	uc010fnx.2	-	67	9831	c.9640G>A	c.(9640-9642)GAC>AAC	p.D3214N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3214	Nebulin 87.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTCTTTGTCCCAGGCTTCT	0.338000												
NEB	4703	broad.mit.edu	37	2	152497119	152497119	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152497119C>T	uc010fnx.2	-	61	8626	c.8435G>A	c.(8434-8436)CGT>CAT	p.R2812H	NEB_uc002txu.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2812	Nebulin 76.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGGTCATCACGTATAGCTCG	0.468000												
ARL6IP6	151188	broad.mit.edu	37	2	153575445	153575445	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:153575445C>T	uc002tyn.2	+	1	1023	c.307C>T	c.(307-309)CGG>TGG	p.R103W	ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting	103						integral to membrane					0						CCAGCCTCGGCGGTGGCCGGT	0.637000												
TANC1	85461	broad.mit.edu	37	2	160027229	160027229	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:160027229G>A	uc002uag.2	+	10	1538	c.1264G>A	c.(1264-1266)GCA>ACA	p.A422T	TANC1_uc010fol.1_Missense_Mutation_p.A316T|TANC1_uc010zcm.1_Missense_Mutation_p.A414T|TANC1_uc010fom.1_Missense_Mutation_p.A228T	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	422						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						TGGGAAGACGGCAATCATTTC	0.517000												
ITGB6	3694	broad.mit.edu	37	2	161051958	161051958	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:161051958A>G	uc002ubh.2	-	4	531	c.515T>C	c.(514-516)CTG>CCG	p.L172P	ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.L172P|ITGB6_uc010zcq.1_Missense_Mutation_p.L130P|ITGB6_uc010fov.1_Missense_Mutation_p.L172P	NM_000888	NP_000879	P18564	ITB6_HUMAN	integrin, beta 6 precursor	172	Extracellular (Potential).|VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			ovary(1)|lung(1)|skin(1)	3						TCCGAAGCCCAGTCTAAAGTT	0.458000												
SLC4A10	57282	broad.mit.edu	37	2	162760684	162760684	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:162760684G>A	uc002ubx.3	+	13	1797	c.1613G>A	c.(1612-1614)CGT>CAT	p.R538H	SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R508H|SLC4A10_uc010zcs.1_Missense_Mutation_p.R519H	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	538	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ACTGAAGGGCGTATAGTATGT	0.383000												
KCNH7	90134	broad.mit.edu	37	2	163279956	163279956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:163279956G>A	uc002uch.1	-	9	2256	c.2044C>T	c.(2044-2046)CGA>TGA	p.R682*	KCNH7_uc002uci.2_Nonsense_Mutation_p.R675*	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	682	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	TCTTTTACTCGCAGCATCTGC	0.443000												
FIGN	55137	broad.mit.edu	37	2	164466809	164466809	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:164466809C>T	uc002uck.1	-	3	1844	c.1533G>A	c.(1531-1533)GCG>GCA	p.A511A		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	511						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						GTCCACTGAACGCGTCTGACC	0.537000												
SCN7A	6332	broad.mit.edu	37	2	167318977	167318977	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:167318977A>C	uc002udu.1	-	9	1132	c.1005T>G	c.(1003-1005)AAT>AAG	p.N335K	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	335					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						AACTGTCAAAATTTGTGAAGC	0.388000												
FASTKD1	79675	broad.mit.edu	37	2	170416934	170416934	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:170416934C>T	uc002uev.3	-	5	1322	c.934G>A	c.(934-936)GCA>ACA	p.A312T	FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.A298T|FASTKD1_uc002uey.2_Missense_Mutation_p.A275T	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	312					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(4)	4						GGTCCCAATGCTACAAACAAT	0.333000												
SP3	6670	broad.mit.edu	37	2	174819995	174819995	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:174819995A>G	uc002uig.2	-	4	1409	c.1245T>C	c.(1243-1245)GGT>GGC	p.G415G	SP3_uc002uie.2_Silent_p.G347G|SP3_uc002uif.2_Silent_p.G362G|SP3_uc010zel.1_Silent_p.G412G	NM_003111	NP_003102	Q02447	SP3_HUMAN	Sp3 transcription factor isoform 1	415	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGGTGTAATACCTTGCACAA	0.443000												
GPR155	151556	broad.mit.edu	37	2	175318565	175318565	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:175318565G>A	uc002uit.2	-	12	2167	c.1776C>T	c.(1774-1776)TGC>TGT	p.C592C	GPR155_uc002uiu.2_Silent_p.C592C|GPR155_uc002uiv.2_Silent_p.C592C|GPR155_uc010fqs.2_Silent_p.C564C	NM_001033045	NP_001028217	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155 isoform 9	592					intracellular signal transduction|transmembrane transport	integral to membrane				ovary(1)	1						AGCAGGAGCAGCAACCTATAT	0.403000												
HOXD13	3239	broad.mit.edu	37	2	176958067	176958067	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:176958067C>T	uc002ukf.1	+	1	536	c.449C>T	c.(448-450)GCG>GTG	p.A150V		NM_000523	NP_000514	P35453	HXD13_HUMAN	homeobox D13	150					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CAGCAGAATGCGCTCAAGTCA	0.657000			T	NUP98	AML*							
HOXD4	3233	broad.mit.edu	37	2	177016573	177016573	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:177016573C>T	uc002uks.2	+	1	461	c.212C>T	c.(211-213)TCG>TTG	p.S71L		NM_014621	NP_055436	P09016	HXD4_HUMAN	homeobox D4	71						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGGCCTGGCTCGGCGCTGCCT	0.692000												
TTN	7273	broad.mit.edu	37	2	179421600	179421600	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179421600C>T	uc010zfg.1	-	279	80801	c.80577G>A	c.(80575-80577)GGG>GGA	p.G26859G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G20554G|TTN_uc010zfi.1_Silent_p.G20487G|TTN_uc010zfj.1_Silent_p.G20362G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27786							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTAATGGGCCCTACAACCT	0.398000												
TTN	7273	broad.mit.edu	37	2	179474580	179474580	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179474580A>C	uc010zfg.1	-	221	44090	c.43866T>G	c.(43864-43866)GGT>GGG	p.G14622G	uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G8317G|TTN_uc010zfi.1_Silent_p.G8250G|TTN_uc010zfj.1_Silent_p.G8125G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15549							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTCTTCACCCTTAGCAA	0.453000												
TTN	7273	broad.mit.edu	37	2	179480133	179480133	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179480133T>C	uc010zfg.1	-	208	41059	c.40835A>G	c.(40834-40836)AAA>AGA	p.K13612R	TTN_uc010zfh.1_Missense_Mutation_p.K7307R|TTN_uc010zfi.1_Missense_Mutation_p.K7240R|TTN_uc010zfj.1_Missense_Mutation_p.K7115R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14539							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATCATTTTTAGGTGGATC	0.433000												
TTN	7273	broad.mit.edu	37	2	179485026	179485026	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179485026C>T	uc010zfg.1	-	197	38742	c.38518G>A	c.(38518-38520)GCT>ACT	p.A12840T	TTN_uc010zfh.1_Missense_Mutation_p.A6535T|TTN_uc010zfi.1_Missense_Mutation_p.A6468T|TTN_uc010zfj.1_Missense_Mutation_p.A6343T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13767							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGAAGACAGCGTCATCGAAC	0.428000												
TTN	7273	broad.mit.edu	37	2	179583661	179583661	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179583661A>C	uc010zfg.1	-	81	20758	c.20534T>G	c.(20533-20535)GTT>GGT	p.V6845G	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V3506G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7772							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGGCAAAACTTCCACAGA	0.483000												
TTN	7273	broad.mit.edu	37	2	179637974	179637974	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:179637974T>C	uc010zfg.1	-	33	7941	c.7717A>G	c.(7717-7719)AAG>GAG	p.K2573E	TTN_uc010zfh.1_Missense_Mutation_p.K2527E|TTN_uc010zfi.1_Missense_Mutation_p.K2527E|TTN_uc010zfj.1_Missense_Mutation_p.K2527E|TTN_uc002unb.2_Missense_Mutation_p.K2573E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2573							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTGGGCTTGATTTCCTTG	0.353000												
ITGA4	3676	broad.mit.edu	37	2	182339713	182339713	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:182339713A>G	uc002unu.2	+	3	1109	c.346A>G	c.(346-348)AAG>GAG	p.K116E	ITGA4_uc010zfl.1_Missense_Mutation_p.K116E	NM_000885	NP_000876	P13612	ITA4_HUMAN	integrin alpha 4 precursor	116	FG-GAP 2.|Extracellular (Potential).				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACCTTGTGGAAAGACTTGTTT	0.413000												
NEUROD1	4760	broad.mit.edu	37	2	182543576	182543576	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:182543576C>T	uc002uof.2	-	2	248	c.12G>A	c.(10-12)TCG>TCA	p.S4S	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	4					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCTCGCTGTACGATTTGGTCA	0.507000												
NCKAP1	10787	broad.mit.edu	37	2	183829478	183829478	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:183829478A>G	uc002upc.2	-	17	2089	c.1687T>C	c.(1687-1689)TCA>CCA	p.S563P	NCKAP1_uc002upb.2_Missense_Mutation_p.S569P	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	563					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAGTATCTTGATTGAGAGGGT	0.328000												
ITGAV	3685	broad.mit.edu	37	2	187501806	187501806	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:187501806G>A	uc002upq.2	+	8	1048	c.772G>A	c.(772-774)GTC>ATC	p.V258I	ITGAV_uc010frs.2_Missense_Mutation_p.V222I|ITGAV_uc010zfv.1_Missense_Mutation_p.V212I	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	258	FG-GAP 4.|Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTCTGTGGCTGTCGGAGATTT	0.368000												
COL5A2	1290	broad.mit.edu	37	2	189927992	189927992	+	Missense_Mutation	SNP	G	G	A	rs145169816	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:189927992G>A	uc002uqk.2	-	27	2050	c.1775C>T	c.(1774-1776)GCG>GTG	p.A592V	COL5A2_uc010frx.2_Missense_Mutation_p.A168V	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	592					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTCCCCTGGCGCACCCTATAG	0.507000												
ASNSD1	54529	broad.mit.edu	37	2	190531821	190531821	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:190531821T>C	uc002uqt.2	+	4	1397	c.963T>C	c.(961-963)AAT>AAC	p.N321N		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	321	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GGAAAGCAAATGTTGCAATCC	0.403000												
DNAH7	56171	broad.mit.edu	37	2	196837015	196837015	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:196837015T>A	uc002utj.3	-	16	2110	c.2009A>T	c.(2008-2010)CAC>CTC	p.H670L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	670	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						GATTTTCCTGTGTTCTTCAAA	0.338000												
AOX1	316	broad.mit.edu	37	2	201501717	201501717	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:201501717G>A	uc002uvx.2	+	22	2531	c.2430G>A	c.(2428-2430)AAG>AAA	p.K810K	AOX1_uc010zhf.1_Silent_p.K366K|AOX1_uc010fsu.2_Silent_p.K176K	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	810					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGAGGGAAGGTGTTAAAAA	0.443000												
BZW1	9689	broad.mit.edu	37	2	201683103	201683103	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:201683103A>G	uc010zhg.1	+	8	954	c.902A>G	c.(901-903)GAT>GGT	p.D301G	BZW1_uc002uwc.2_Missense_Mutation_p.D269G|BZW1_uc010zhh.1_Missense_Mutation_p.D269G	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	269	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						TCCCGTGGTGATCCATTTAAG	0.413000												
FAM126B	285172	broad.mit.edu	37	2	201862260	201862260	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:201862260A>G	uc002uws.3	-	8	722	c.534T>C	c.(532-534)TTT>TTC	p.F178F	FAM126B_uc002uwu.2_Silent_p.F96F|FAM126B_uc002uwv.2_Silent_p.F178F|FAM126B_uc002uww.1_Silent_p.F178F	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	178						intracellular				ovary(1)	1						TCAGGACTTCAAACCTAAAAA	0.353000												
CFLAR	8837	broad.mit.edu	37	2	202025304	202025304	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:202025304C>A	uc002uxb.3	+	9	1395	c.943C>A	c.(943-945)CGA>AGA	p.R315R	CFLAR_uc010zhk.1_Silent_p.R219R|CFLAR_uc002uxc.3_Silent_p.R280R|CFLAR_uc010zhl.1_Silent_p.R219R|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Silent_p.R315R|CFLAR_uc002uxf.2_Silent_p.R315R|CFLAR_uc010fsy.2_Intron|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Silent_p.R219R|CFLAR_uc010fsz.2_Silent_p.R70R|CFLAR_uc002uxg.2_Silent_p.R70R|uc002uxh.1_5'Flank	NM_003879	NP_003870	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator isoform	315	Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Caspase.|Interaction with caspase-8 subunits p18 and p10.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding				0						CCTGGTGAGCCGAGGAGGCTC	0.527000												
CDK15	65061	broad.mit.edu	37	2	202672641	202672641	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:202672641G>T	uc002uyt.2	+	3	383	c.334G>T	c.(334-336)GGC>TGC	p.G112C	CDK15_uc010ftm.2_Translation_Start_Site|CDK15_uc002uys.2_Missense_Mutation_p.G61C|CDK15_uc010ftn.1_Missense_Mutation_p.G61C|CDK15_uc010fto.1_Missense_Mutation_p.G112C	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	112	ATP (By similarity).|Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	GCTGGGTGAAGGCTCTTATGC	0.378000												
CDK15	65061	broad.mit.edu	37	2	202737024	202737024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:202737024C>T	uc002uyt.2	+	11	1082	c.1033C>T	c.(1033-1035)CGA>TGA	p.R345*	CDK15_uc010ftm.2_Nonsense_Mutation_p.R210*|CDK15_uc002uys.2_Nonsense_Mutation_p.R294*|CDK15_uc010ftn.1_Nonsense_Mutation_p.R294*|CDK15_uc002uyu.1_Intron	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	PFTAIRE protein kinase 2	345	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(2)|ovary(1)|lung(1)|kidney(1)	5					Adenosine triphosphate(DB00171)	GCCTACGCCTCGAAGCCTTCA	0.398000												
CPO	130749	broad.mit.edu	37	2	207834072	207834072	+	Missense_Mutation	SNP	C	C	T	rs144914072		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:207834072C>T	uc002vby.2	+	9	1083	c.1037C>T	c.(1036-1038)GCG>GTG	p.A346V		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	346					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GATGTGTATGCGAAACACTGG	0.547000												
CPS1	1373	broad.mit.edu	37	2	211512694	211512694	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:211512694C>T	uc002vee.3	+	26	3381	c.3249C>T	c.(3247-3249)ATC>ATT	p.I1083I	CPS1_uc010fur.2_Silent_p.I1089I|CPS1_uc010fus.2_Silent_p.I632I	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1083					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CCCTGCAGATCGACAGGGCTG	0.502000												
ERBB4	2066	broad.mit.edu	37	2	212426654	212426654	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:212426654G>T	uc002veg.1	-	20	2559	c.2461C>A	c.(2461-2463)CTT>ATT	p.L821I	ERBB4_uc002veh.1_Missense_Mutation_p.L821I|ERBB4_uc010zji.1_Missense_Mutation_p.L811I|ERBB4_uc010zjj.1_Missense_Mutation_p.L811I|ERBB4_uc010fut.1_Missense_Mutation_p.L821I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	821	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACCAGTTAAGCAGCAGTTGT	0.423000										TSP Lung(8;0.080)		
SPAG16	79582	broad.mit.edu	37	2	214727247	214727247	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:214727247G>A	uc002veq.2	+	11	1201	c.1109G>A	c.(1108-1110)TGT>TAT	p.C370Y	SPAG16_uc010fuz.1_Missense_Mutation_p.C221Y|SPAG16_uc002ver.2_Missense_Mutation_p.C316Y|SPAG16_uc010zjk.1_Missense_Mutation_p.C276Y	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	370	WD 1.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTAGTCTCCTGTGGCGAGGAC	0.483000												
RNF25	64320	broad.mit.edu	37	2	219530916	219530916	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219530916T>C	uc002vit.2	-	6	483	c.395A>G	c.(394-396)CAT>CGT	p.H132R	RNF25_uc010fvw.2_Missense_Mutation_p.H20R	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	ring finger protein 25	132					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACTGGCCATGAGGGATGTT	0.517000												
WNT6	7475	broad.mit.edu	37	2	219736502	219736502	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219736502C>T	uc002vjc.1	+	3	812	c.597C>T	c.(595-597)CGC>CGT	p.R199R		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	199					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGACATCCGCGCGTTGGTGC	0.652000												
WNT6	7475	broad.mit.edu	37	2	219738385	219738385	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219738385C>T	uc002vjc.1	+	4	1131	c.916C>T	c.(916-918)CGC>TGC	p.R306C		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family,	306					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(2)|skin(1)	3		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCGGCACGCGCGGTCGCGC	0.741000												
CDK5R2	8941	broad.mit.edu	37	2	219824884	219824884	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219824884C>T	uc002vjf.2	+	1	487	c.342C>T	c.(340-342)GGC>GGT	p.G114G		NM_003936	NP_003927	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2	114					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCGACGGCGGCGGCACCG	0.761000												
CCDC108	255101	broad.mit.edu	37	2	219900328	219900328	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:219900328T>C	uc002vjl.1	-	5	500	c.416A>G	c.(415-417)AAG>AGG	p.K139R	CCDC108_uc010zkp.1_Missense_Mutation_p.K128R|CCDC108_uc010zkq.1_Missense_Mutation_p.K74R|CCDC108_uc002vjn.2_Missense_Mutation_p.K74R	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	139						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGACCCTCTTGTTCACTCT	0.537000												
ATG9A	79065	broad.mit.edu	37	2	220089143	220089143	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:220089143G>A	uc002vke.1	-	8	1136	c.950C>T	c.(949-951)GCT>GTT	p.A317V	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A317V	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	317	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGCATAGCTGAA	0.607000												
SPEG	10290	broad.mit.edu	37	2	220333585	220333585	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:220333585C>T	uc010fwg.2	+	12	3306	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1102	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCAGGCTGCCCCATGGAGG	0.682000												
IRS1	3667	broad.mit.edu	37	2	227662263	227662263	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:227662263T>C	uc002voh.3	-	1	1244	c.1192A>G	c.(1192-1194)AGT>GGT	p.S398G		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	398	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCATGGCCACTGGTGCTACTG	0.642000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C2orf83	56918	broad.mit.edu	37	2	228476166	228476166	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:228476166T>C	uc002vph.2	-	3	632	c.397A>G	c.(397-399)AAG>GAG	p.K133E	C2orf83_uc010zlu.1_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	hypothetical protein LOC56918 isoform 1	133						membrane	folic acid binding|reduced folate carrier activity				0						TGTGGCTTCTTGTTCTCTGTG	0.507000												
SP110	3431	broad.mit.edu	37	2	231081613	231081613	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:231081613C>A	uc002vqh.3	-	2	270	c.30G>T	c.(28-30)GAG>GAT	p.E10D	SP110_uc002vqg.3_Missense_Mutation_p.E10D|SP110_uc002vqi.3_Missense_Mutation_p.E10D|SP110_uc010fxk.2_Missense_Mutation_p.E10D	NM_004509	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein isoform a	10	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			ovary(2)|breast(2)	4		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GAAAAAGAGCCTCTTCCATGG	0.373000												
DIS3L2	129563	broad.mit.edu	37	2	233194563	233194563	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:233194563G>T	uc010fxz.2	+	15	2056	c.1780G>T	c.(1780-1782)GCC>TCC	p.A594S	DIS3L2_uc002vsm.3_Intron|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	594							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CATGGCAGTGGCCCACAAGAT	0.657000												
ECEL1	9427	broad.mit.edu	37	2	233347838	233347838	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:233347838C>T	uc002vsv.2	-	9	1763	c.1558G>A	c.(1558-1560)GAT>AAT	p.D520N	ECEL1_uc010fya.1_Missense_Mutation_p.D520N|ECEL1_uc010fyb.1_Missense_Mutation_p.D227N	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	520	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCCACAGCATCGGGTTTCAGC	0.647000												
SAG	6295	broad.mit.edu	37	2	234240330	234240330	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:234240330G>A	uc002vuh.2	+	10	1166	c.778G>A	c.(778-780)GTC>ATC	p.V260I	SAG_uc010zmq.1_Missense_Mutation_p.V126I	NM_000541	NP_000532	P10523	ARRS_HUMAN	S-arrestin	260					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			ovary(1)	1		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TGATTATTACGTCAAGCCCGT	0.557000												
UGT1A4	54657	broad.mit.edu	37	2	234627686	234627686	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:234627686T>A	uc002vux.2	+	1	249	c.220T>A	c.(220-222)TTT>ATT	p.F74I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Missense_Mutation_p.F74I	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	74					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	AGAAGAGAAATTTTTCACCCT	0.532000												
AGAP1	116987	broad.mit.edu	37	2	236839450	236839450	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:236839450A>G	uc002vvs.2	+	12	1961	c.1366A>G	c.(1366-1368)ATC>GTC	p.I456V	AGAP1_uc002vvt.2_Intron	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	456	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GGCAAGCGGCATCAGCCTGGT	0.572000												
HDAC4	9759	broad.mit.edu	37	2	240061463	240061463	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:240061463C>T	uc002vyk.3	-	9	1687	c.895G>A	c.(895-897)GGA>AGA	p.G299R	HDAC4_uc010fyz.1_Missense_Mutation_p.G294R|HDAC4_uc010zoa.1_Missense_Mutation_p.G294R|HDAC4_uc010fza.2_Missense_Mutation_p.G299R|HDAC4_uc010fyy.2_Missense_Mutation_p.G251R|HDAC4_uc010znz.1_Missense_Mutation_p.G182R|HDAC4_uc010fzb.1_RNA	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	299	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GAGCTGGGTCCGGAGCCTGGG	0.677000												
KIF1A	547	broad.mit.edu	37	2	241676582	241676582	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:241676582C>T	uc002vzy.2	-	36	3748	c.3602G>A	c.(3601-3603)CGC>CAC	p.R1201H	KIF1A_uc010fzk.2_Missense_Mutation_p.R1302H|KIF1A_uc002vzz.1_Missense_Mutation_p.R1302H	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	1201					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTTTCGGATGCGGCCTGCAGA	0.617000												
PASK	23178	broad.mit.edu	37	2	242054701	242054701	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242054701A>G	uc002wao.1	-	13	3290	c.3198_splice	c.e13+1	p.K1066_splice	PASK_uc010zol.1_Splice_Site_p.K880_splice|PASK_uc010zom.1_Splice_Site_p.K1031_splice|PASK_uc010fzl.1_Splice_Site_p.K1066_splice|PASK_uc010zon.1_Splice_Site_p.K847_splice|PASK_uc002wap.2_Splice_Site_p.K609_splice|PASK_uc002waq.2_Splice_Site_p.K1066_splice	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase						regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGAAACCATCACCTTGATGAT	0.423000												
THAP4	51078	broad.mit.edu	37	2	242572918	242572918	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242572918C>T	uc002wbt.2	-	2	877	c.654G>A	c.(652-654)ATG>ATA	p.M218I		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	218							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TAAAGTCATCCATAGAAATGC	0.537000												
THAP4	51078	broad.mit.edu	37	2	242572945	242572945	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242572945G>A	uc002wbt.2	-	2	850	c.627C>T	c.(625-627)GGC>GGT	p.G209G		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	209							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TATCTGTCACGCCCCCTTCGA	0.542000												
D2HGDH	728294	broad.mit.edu	37	2	242680464	242680464	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242680464G>A	uc002wce.1	+	3	482	c.309G>A	c.(307-309)CTG>CTA	p.L103L	D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_5'UTR|D2HGDH_uc002wcg.1_RNA	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase precursor	103	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCAAGGTGCTGCTGAGGCCAC	0.612000												
C2orf85	285093	broad.mit.edu	37	2	242814647	242814647	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242814647G>T	uc010fzu.1	+	2	963	c.940G>T	c.(940-942)GGC>TGC	p.G314C		NM_173821	NP_776182	Q14D33	CB085_HUMAN	hypothetical protein LOC285093	314						integral to membrane				ovary(1)	1						CCTCAACAATGGCCTCGTCCC	0.667000												
PTPRA	5786	broad.mit.edu	37	20	2967446	2967446	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:2967446T>A	uc010zqb.1	+	6	844	c.451T>A	c.(451-453)TCC>ACC	p.S151T	PTPRA_uc002whj.2_Missense_Mutation_p.S160T|PTPRA_uc010zqc.1_Missense_Mutation_p.S45T|PTPRA_uc002whk.2_Missense_Mutation_p.S151T|PTPRA_uc010zqd.1_Missense_Mutation_p.S171T|PTPRA_uc002whl.2_Missense_Mutation_p.S151T|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.S151T|PTPRA_uc002who.2_5'UTR			P18433	PTPRA_HUMAN	SubName: Full=cDNA FLJ60525, highly similar to Receptor-type tyrosine-protein phosphatase alpha (EC 3.1.3.48);	151	Helical; (Potential).				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GGTGGCCCTGTCCTCTCTGCT	0.408000												
SLC4A11	83959	broad.mit.edu	37	20	3211287	3211287	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3211287C>T	uc002wig.2	-	11	1385	c.1337G>A	c.(1336-1338)CGT>CAT	p.R446H	SLC4A11_uc010zqe.1_Missense_Mutation_p.R473H|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.R430H	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	446	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1						ACAGATGACACGAATCACTGC	0.582000												
C20orf194	25943	broad.mit.edu	37	20	3240189	3240189	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3240189A>C	uc002wii.2	-	33	3043	c.2992T>G	c.(2992-2994)TCC>GCC	p.S998A	C20orf194_uc002wij.3_Missense_Mutation_p.S737A|C20orf194_uc002wik.2_Missense_Mutation_p.S672A	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	998											0						GGCTTGATGGAGGACTGAATT	0.537000												
ATRN	8455	broad.mit.edu	37	20	3565434	3565434	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3565434G>A	uc002wim.2	+	18	3181	c.3091G>A	c.(3091-3093)GCC>ACC	p.A1031T	ATRN_uc002wil.2_Missense_Mutation_p.A1031T	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	1031	Extracellular (Potential).|PSI 4.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2						GCCTTCGCAAGCCCCTACAGG	0.493000												
C20orf27	54976	broad.mit.edu	37	20	3736176	3736176	+	Missense_Mutation	SNP	G	G	A	rs149371540		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3736176G>A	uc002wji.1	-	4	470	c.241C>T	c.(241-243)CGC>TGC	p.R81C	C20orf27_uc002wjf.1_Missense_Mutation_p.R106C|C20orf27_uc002wjh.1_Missense_Mutation_p.R106C	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	hypothetical protein LOC54976	81											0						GGTGCCTCGCGGACATCCTTG	0.622000												
CENPB	1059	broad.mit.edu	37	20	3766612	3766612	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3766612G>A	uc002wjk.2	-	1	726	c.519C>T	c.(517-519)CGC>CGT	p.R173R	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	173					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						CCTCCCGAGCGCGCCAACCAG	0.746000												
TRMT6	51605	broad.mit.edu	37	20	5925451	5925451	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:5925451C>A	uc002wmh.1	-	3	488	c.366G>T	c.(364-366)GAG>GAT	p.E122D	TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_RNA	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	122					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						TGAATATTACCTCTCCTTTAA	0.338000												
PLCB4	5332	broad.mit.edu	37	20	9401986	9401986	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:9401986T>C	uc002wnf.2	+	25	2297	c.2161T>C	c.(2161-2163)TAC>CAC	p.Y721H	PLCB4_uc010gbw.1_Missense_Mutation_p.Y721H|PLCB4_uc010gbx.2_Missense_Mutation_p.Y733H|PLCB4_uc002wne.2_Missense_Mutation_p.Y721H|PLCB4_uc002wnh.2_Missense_Mutation_p.Y568H	NM_182797	NP_877949	Q15147	PLCB4_HUMAN	phospholipase C beta 4 isoform b	721	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			skin(11)|ovary(3)|pancreas(1)	15						AATTGGCACCTACGTAGAGGT	0.418000												
ANKRD5	63926	broad.mit.edu	37	20	10026254	10026254	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:10026254C>T	uc002wno.2	+	6	1122	c.729C>T	c.(727-729)GAC>GAT	p.D243D	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.D243D|ANKRD5_uc010gbz.2_Silent_p.D54D	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	243	ANK 3.						calcium ion binding			ovary(1)|breast(1)	2						ACAATGGAGACGTGGGGCTGA	0.383000												
SNRPB2	6629	broad.mit.edu	37	20	16712392	16712392	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:16712392T>C	uc002wph.1	+	2	261	c.45T>C	c.(43-45)AAT>AAC	p.N15N	SNRPB2_uc002wpi.1_Silent_p.N15N	NM_003092	NP_003083	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B''	15	RRM 1.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(1)	1						ACAATATGAATGACAAAATTA	0.284000												
CSRP2BP	57325	broad.mit.edu	37	20	18143317	18143317	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:18143317G>A	uc002wqj.2	+	7	2021	c.1399G>A	c.(1399-1401)GAG>AAG	p.E467K	CSRP2BP_uc002wqk.2_Missense_Mutation_p.E339K|CSRP2BP_uc010zru.1_Missense_Mutation_p.E338K	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	467					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						GAGCATCTACGAGGAAAAGCT	0.517000												
C20orf26	26074	broad.mit.edu	37	20	20278851	20278851	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:20278851G>A	uc002wru.2	+	25	3319	c.3243G>A	c.(3241-3243)GCG>GCA	p.A1081A	C20orf26_uc002wrw.2_RNA	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	1081										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)		CCGGCAGTGCGAAAAATGGGA	0.428000												
PAX1	5075	broad.mit.edu	37	20	21689866	21689866	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:21689866T>C	uc002wsj.2	+	4	1120	c.1066T>C	c.(1066-1068)TCC>CCC	p.S356P	PAX1_uc010zsl.1_Missense_Mutation_p.S356P|PAX1_uc010zsm.1_Missense_Mutation_p.S332P	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	356					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2						ACAGTCGGCCTCCACCCTCTC	0.667000												
CD93	22918	broad.mit.edu	37	20	23064957	23064957	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:23064957C>T	uc002wsv.2	-	1	2021	c.1873G>A	c.(1873-1875)GCA>ACA	p.A625T		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	CD93 antigen precursor	625	Cytoplasmic (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			large_intestine(2)	2	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TAACTGTCTGCCGCATTCTGG	0.617000												
GZF1	64412	broad.mit.edu	37	20	23350276	23350276	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:23350276C>A	uc010gdb.2	+	6	1857	c.1683C>A	c.(1681-1683)GCC>GCA	p.A561A	GZF1_uc002wsy.2_Silent_p.A561A|GZF1_uc010zsq.1_Silent_p.A85A|GZF1_uc010zsr.1_Silent_p.A70A|GZF1_uc002wsz.2_Silent_p.A561A	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	561	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AGCTCAACGCCCTCCAGCGCC	0.632000												
PYGB	5834	broad.mit.edu	37	20	25259726	25259726	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25259726C>A	uc002wup.2	+	9	1142	c.1033C>A	c.(1033-1035)CTC>ATC	p.L345I		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase	345					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	CCACCCCGCCCTCTCCATCCC	0.617000												
NINL	22981	broad.mit.edu	37	20	25457303	25457303	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25457303G>C	uc002wux.1	-	17	2698	c.2624C>G	c.(2623-2625)GCC>GGC	p.A875G	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	875					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCGAGGCCCGGCTCCTGCCGC	0.731000												
NINL	22981	broad.mit.edu	37	20	25457469	25457469	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25457469G>A	uc002wux.1	-	17	2532	c.2458C>T	c.(2458-2460)CCC>TCC	p.P820S	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	820					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						TCCAGGGAGGGCCCGTCCACT	0.677000												
TM9SF4	9777	broad.mit.edu	37	20	30745748	30745748	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:30745748G>A	uc002wxj.2	+	14	1716	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	TM9SF4_uc010zts.1_Missense_Mutation_p.R401Q|TM9SF4_uc002wxk.2_Missense_Mutation_p.R477Q|TM9SF4_uc010gdz.2_Missense_Mutation_p.R373Q	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	494						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCGAGCAGCGGTGGTACATG	0.617000												
DNMT3B	1789	broad.mit.edu	37	20	31387079	31387079	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:31387079C>T	uc002wyc.2	+	16	2025	c.1704C>T	c.(1702-1704)CCC>CCT	p.P568P	DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.P548P|DNMT3B_uc002wye.2_Silent_p.P548P|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.P506P|DNMT3B_uc010zua.1_Silent_p.P472P|DNMT3B_uc002wyf.2_Silent_p.P560P|DNMT3B_uc002wyg.2_Silent_p.P267P|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform	568					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						CTGCCATTCCCGCAGCCCGAA	0.587000												
C20orf71	128861	broad.mit.edu	37	20	31812171	31812171	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:31812171A>G	uc002wyr.2	+	3	497	c.289A>G	c.(289-291)ACC>GCC	p.T97A	C20orf71_uc002wys.2_Intron	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	short long palate, lung and nasal epithelium	97						extracellular region	lipid binding			ovary(1)|skin(1)	2						CATCAACATCACCAACATTCA	0.483000												
C20orf114	92747	broad.mit.edu	37	20	31891811	31891811	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:31891811A>G	uc002wyw.1	+	12	1349	c.1188A>G	c.(1186-1188)ATA>ATG	p.I396M	C20orf114_uc002wyx.1_RNA	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	LPLUNC1 protein precursor	396						extracellular space	lipid binding			central_nervous_system(2)|skin(2)	4						ACCAACTTATACTCAACTTGA	0.433000												
ZNF341	84905	broad.mit.edu	37	20	32379191	32379191	+	Silent	SNP	G	G	A	rs147756041		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:32379191G>A	uc002wzy.2	+	15	2453	c.2433G>A	c.(2431-2433)GCG>GCA	p.A811A	ZNF341_uc002wzx.2_Silent_p.A804A|ZNF341_uc010geq.2_Silent_p.A721A|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Silent_p.A238A	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CGGTGGGCGCGGAAACTGAGC	0.706000												
ERGIC3	51614	broad.mit.edu	37	20	34130099	34130099	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34130099T>G	uc002xct.2	+	2	185	c.116T>G	c.(115-117)CTG>CGG	p.L39R	ERGIC3_uc002xcq.1_Missense_Mutation_p.L39R|ERGIC3_uc002xcr.1_Missense_Mutation_p.L39R|ERGIC3_uc010zvg.1_Missense_Mutation_p.L39R|ERGIC3_uc002xcs.2_Missense_Mutation_p.L39R|ERGIC3_uc002xcu.2_Missense_Mutation_p.L39R|ERGIC3_uc002xcv.2_Missense_Mutation_p.L2R	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	39	Helical; (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CTTCTCATGCTGCTACTGTTC	0.597000												
ERGIC3	51614	broad.mit.edu	37	20	34144042	34144042	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34144042G>T	uc002xct.2	+	10	948	c.879G>T	c.(877-879)GAG>GAT	p.E293D	ERGIC3_uc010zvg.1_Missense_Mutation_p.E293D|ERGIC3_uc002xcs.2_Missense_Mutation_p.E298D|ERGIC3_uc002xcu.2_Missense_Mutation_p.E308D|ERGIC3_uc002xcv.2_Missense_Mutation_p.E256D	NM_015966	NP_057050	Q9Y282	ERGI3_HUMAN	serologically defined breast cancer antigen 84	293	Lumenal (Potential).				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			large_intestine(2)|ovary(1)	3	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGGACGGAGAGGTGAGTCAGG	0.567000												
PHF20	51230	broad.mit.edu	37	20	34451082	34451082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34451082C>T	uc002xek.1	+	6	679	c.568C>T	c.(568-570)CGA>TGA	p.R190*	PHF20_uc002xei.1_Nonsense_Mutation_p.R190*|PHF20_uc010gfo.1_Nonsense_Mutation_p.R190*|PHF20_uc002xej.1_Nonsense_Mutation_p.R74*|PHF20_uc002xel.1_Nonsense_Mutation_p.R52*	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	190	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			ovary(1)	1	Breast(12;0.00631)|all_lung(11;0.0145)					GACAGAAAAGCGACCCAAGCA	0.383000												
EPB41L1	2036	broad.mit.edu	37	20	34761845	34761845	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:34761845C>A	uc002xfb.2	+	2	317	c.146C>A	c.(145-147)CCA>CAA	p.P49Q	EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Missense_Mutation_p.P49Q|EPB41L1_uc002xev.2_Missense_Mutation_p.P49Q|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Missense_Mutation_p.P49Q|EPB41L1_uc002xez.2_Intron	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	49					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					GAGAAGCATCCATCCCAGCAG	0.662000												
DLGAP4	22839	broad.mit.edu	37	20	35155282	35155282	+	Missense_Mutation	SNP	G	G	A	rs114982034	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:35155282G>A	uc002xff.2	+	13	3253	c.2818G>A	c.(2818-2820)GAC>AAC	p.D940N	DLGAP4_uc010zvp.1_Missense_Mutation_p.D940N|DLGAP4_uc002xfg.2_Missense_Mutation_p.D236N|DLGAP4_uc002xfh.2_Missense_Mutation_p.D404N|DLGAP4_uc002xfi.2_3'UTR|DLGAP4_uc002xfj.2_Missense_Mutation_p.D236N|uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	943					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGTGAGCCGCGACAAGGCCTC	0.597000												
C20orf117	140710	broad.mit.edu	37	20	35431359	35431359	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:35431359C>T	uc002xgd.1	-	11	2852	c.2525G>A	c.(2524-2526)CGC>CAC	p.R842H	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	842											0		Myeloproliferative disorder(115;0.00874)				GCTCCAGTTGCGCTCACTGAT	0.622000												
C20orf132	140699	broad.mit.edu	37	20	35757443	35757443	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:35757443C>T	uc010zvu.1	-	16	1898	c.1807G>A	c.(1807-1809)GCT>ACT	p.A603T	C20orf132_uc002xgk.2_Missense_Mutation_p.A225T|C20orf132_uc002xgm.2_Missense_Mutation_p.A603T|C20orf132_uc002xgn.2_Missense_Mutation_p.A568T	NM_152503	NP_689716	Q9H579	CT132_HUMAN	hypothetical protein LOC140699 isoform 1	478											0		Myeloproliferative disorder(115;0.00878)				ACAGCCACAGCCACATATGCC	0.567000												
RALGAPB	57148	broad.mit.edu	37	20	37179846	37179846	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:37179846C>T	uc002xiw.2	+	21	3399	c.3142C>T	c.(3142-3144)CAT>TAT	p.H1048Y	RALGAPB_uc002xix.2_Missense_Mutation_p.H1044Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.H826Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1048					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						TCCAGATTTGCATGAAATAGT	0.368000												
SLC32A1	140679	broad.mit.edu	37	20	37353656	37353656	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:37353656G>A	uc002xjc.2	+	1	552	c.289G>A	c.(289-291)GGC>AGC	p.G97S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	97	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCCGCCCTCCGGCTCCAAGGA	0.667000												
MAFB	9935	broad.mit.edu	37	20	39317075	39317075	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:39317075G>T	uc002xji.2	-	1	802	c.416C>A	c.(415-417)CCT>CAT	p.P139H		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	139	Poly-His.				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				gtgcgggtgagggtggtggtg	0.572000			T	IGH@	MM							
CHD6	84181	broad.mit.edu	37	20	40080570	40080570	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:40080570T>C	uc002xka.1	-	22	3597	c.3419A>G	c.(3418-3420)TAC>TGC	p.Y1140C		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1140					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				CTTGACACAGTACACCAGGAG	0.527000												
MYBL2	4605	broad.mit.edu	37	20	42338651	42338651	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:42338651G>T	uc002xlb.1	+	10	1769	c.1554G>T	c.(1552-1554)ACG>ACT	p.T518T	MYBL2_uc010zwj.1_Silent_p.T494T	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	518						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTCCCCACACGCCAACCCCGT	0.607000												
JPH2	57158	broad.mit.edu	37	20	42744342	42744342	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:42744342G>A	uc002xli.1	-	4	2846	c.1973C>T	c.(1972-1974)GCC>GTC	p.A658V		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	658	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCAGTGCGGCCTCCTTCCG	0.537000												
ADA	100	broad.mit.edu	37	20	43249743	43249743	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:43249743C>T	uc002xmj.2	-	10	1019	c.891G>A	c.(889-891)CCG>CCA	p.P297P	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	297					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGAAGATGAGCGGGTCATCTG	0.453000									Adenosine_Deaminase_Deficiency			
KCNS1	3787	broad.mit.edu	37	20	43727277	43727277	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:43727277G>A	uc002xnc.2	-	4	533	c.136C>T	c.(136-138)CGG>TGG	p.R46W	KCNS1_uc002xnd.2_Missense_Mutation_p.R46W	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	46	Cytoplasmic (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				TCGCTTCGCCGCCAGCGGATC	0.736000												
MMP9	4318	broad.mit.edu	37	20	44640858	44640858	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44640858C>A	uc002xqz.2	+	7	1099	c.1080C>A	c.(1078-1080)ACC>ACA	p.T360T		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	360	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AGTACTCGACCTGTACCAGCG	0.637000												
MMP9	4318	broad.mit.edu	37	20	44642368	44642368	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44642368C>T	uc002xqz.2	+	10	1702	c.1683C>T	c.(1681-1683)CCC>CCT	p.P561P		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	561	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	ACAAGTGGCCCGCGCTGCCCC	0.622000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC12A5	57468	broad.mit.edu	37	20	44676687	44676687	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44676687C>T	uc010zxl.1	+	16	2120	c.2044C>T	c.(2044-2046)CGC>TGC	p.R682C	SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.R659C	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	682					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCCTCTTACGCCTGGAGGA	0.597000												
SLC12A5	57468	broad.mit.edu	37	20	44681755	44681755	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44681755G>A	uc010zxl.1	+	19	2682	c.2606G>A	c.(2605-2607)CGG>CAG	p.R869Q	SLC12A5_uc002xrb.2_Missense_Mutation_p.R846Q	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	869	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCCTGCTGCGGCACCACAAG	0.393000												
ZNF334	55713	broad.mit.edu	37	20	45130773	45130773	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:45130773T>C	uc002xsc.2	-	5	1389	c.1205A>G	c.(1204-1206)GAA>GGA	p.E402G	ZNF334_uc002xsa.2_Missense_Mutation_p.E425G|ZNF334_uc002xsb.2_Missense_Mutation_p.E364G|ZNF334_uc002xsd.2_Missense_Mutation_p.E364G|ZNF334_uc010ghl.2_Missense_Mutation_p.E401G	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ATAGGGTTTTTCCCCTGTGTG	0.438000												
STAU1	6780	broad.mit.edu	37	20	47741096	47741096	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:47741096A>G	uc002xud.2	-	7	1049	c.638T>C	c.(637-639)ATG>ACG	p.M213T	STAU1_uc002xua.2_Missense_Mutation_p.M132T|STAU1_uc002xub.2_Missense_Mutation_p.M138T|STAU1_uc002xuc.2_Missense_Mutation_p.M132T|STAU1_uc002xue.2_Missense_Mutation_p.M132T|STAU1_uc002xuf.2_Missense_Mutation_p.M138T|STAU1_uc002xug.2_Missense_Mutation_p.M213T	NM_017453	NP_059347	O95793	STAU1_HUMAN	staufen isoform b	213	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			ovary(4)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AAAGTTCTTCATGTGGGGTGG	0.502000												
ZNFX1	57169	broad.mit.edu	37	20	47887624	47887624	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:47887624T>A	uc002xui.2	-	3	972	c.725A>T	c.(724-726)GAG>GTG	p.E242V		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	242							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTTATGTGCTCTGGATACTG	0.498000												
SLC9A8	23315	broad.mit.edu	37	20	48472028	48472028	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:48472028T>C	uc002xuv.1	+	8	833	c.623T>C	c.(622-624)ATT>ACT	p.I208T	SLC9A8_uc010zym.1_5'UTR|SLC9A8_uc010zyj.1_Missense_Mutation_p.I224T|SLC9A8_uc010zyk.1_Silent_p.H196H|SLC9A8_uc010zyl.1_Silent_p.H168H|SLC9A8_uc010gib.1_Silent_p.H162H	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	208	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			ACTATTGCCATTTTCAATGCA	0.468000												
ATP9A	10079	broad.mit.edu	37	20	50313974	50313974	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:50313974T>C	uc002xwg.1	-	5	484	c.484A>G	c.(484-486)ATC>GTC	p.I162V	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	162	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						TTTTCAACGATGATAAGGTCT	0.413000												
ZFP64	55734	broad.mit.edu	37	20	50769393	50769393	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:50769393C>T	uc002xwl.2	-	6	1687	c.1338G>A	c.(1336-1338)CAG>CAA	p.Q446Q	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.Q444Q|ZFP64_uc002xwn.2_Silent_p.Q392Q	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	446	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						ACTCACTGTGCTGTCTCTTGT	0.592000												
ZNF217	7764	broad.mit.edu	37	20	52199147	52199147	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:52199147G>T	uc002xwq.3	-	1	490	c.219C>A	c.(217-219)ACC>ACA	p.T73T	ZNF217_uc010gij.1_Silent_p.T65T	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	73	C2H2-type 1.				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AATGTGTGAAGGTCTGGCTGC	0.463000												
C20orf43	51507	broad.mit.edu	37	20	55059189	55059189	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:55059189G>A	uc002xxt.2	+	5	528	c.421G>A	c.(421-423)GGC>AGC	p.G141S	C20orf43_uc010zzf.1_Missense_Mutation_p.G171S|C20orf43_uc002xxu.2_Missense_Mutation_p.G141S|C20orf43_uc002xxv.2_Missense_Mutation_p.G141S	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	hypothetical protein LOC51507	141										ovary(1)	1			Colorectal(105;0.202)			TCGGTGCTGCGGCTGTGTGTT	0.463000												
BMP7	655	broad.mit.edu	37	20	55803316	55803316	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:55803316C>T	uc010gip.1	-	2	1109	c.580G>A	c.(580-582)GTT>ATT	p.V194I	BMP7_uc010giq.1_Missense_Mutation_p.V194I|BMP7_uc002xyc.2_Missense_Mutation_p.V194I	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	194					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			skin(1)	1	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACCTGATAAACGCTGATCCGG	0.562000												
NPEPL1	79716	broad.mit.edu	37	20	57290264	57290264	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:57290264C>T	uc010zzs.1	+	12	1549	c.1454C>T	c.(1453-1455)GCG>GTG	p.A485V	NPEPL1_uc010zzr.1_Missense_Mutation_p.A437V|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.A457V|NPEPL1_uc002xzp.2_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	485					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTCCTGCTGGCGCTCTTCGGC	0.667000												
ADRM1	11047	broad.mit.edu	37	20	60881312	60881312	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:60881312C>T	uc002ycn.2	+	4	470	c.390C>T	c.(388-390)AAC>AAT	p.N130N	ADRM1_uc011aai.1_Silent_p.N130N|ADRM1_uc002yco.2_Silent_p.N130N|ADRM1_uc002ycp.1_RNA	NM_007002	NP_008933	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1 precursor	130	PH.|Interaction with PSMD1.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding				0	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ATCTGAACAACCCCCCGATGC	0.607000												
CABLES2	81928	broad.mit.edu	37	20	60966352	60966352	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:60966352T>C	uc002ycv.2	-	9	1256	c.1249A>G	c.(1249-1251)AAG>GAG	p.K417E		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	417					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGCTGATCTTGGCAGCCAGC	0.632000												
OGFR	11054	broad.mit.edu	37	20	61443861	61443861	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:61443861C>T	uc002ydj.2	+	7	929	c.894C>T	c.(892-894)AGC>AGT	p.S298S	OGFR_uc002ydk.2_Silent_p.S281S|OGFR_uc002ydl.2_Silent_p.S246S	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	298					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					TCAAGCCCAGCTCTCTGCCCC	0.697000												
DIDO1	11083	broad.mit.edu	37	20	61526496	61526496	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:61526496G>A	uc002ydr.1	-	9	2500	c.2236C>T	c.(2236-2238)CGT>TGT	p.R746C	DIDO1_uc002yds.1_Missense_Mutation_p.R746C|DIDO1_uc002ydt.1_Missense_Mutation_p.R746C|DIDO1_uc002ydu.1_Missense_Mutation_p.R746C	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	746	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ATTTCCTCACGCAGAACACGA	0.413000												
PPDPF	79144	broad.mit.edu	37	20	62153137	62153137	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:62153137T>C	uc002yff.2	+	4	390	c.250T>C	c.(250-252)TCC>CCC	p.S84P		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and	84					cell differentiation|multicellular organismal development						0						TCCCCAGGCCTCCAGCAGCAT	0.682000												
KRTAP24-1	643803	broad.mit.edu	37	21	31654782	31654782	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:31654782A>C	uc002ynv.2	-	1	495	c.469T>G	c.(469-471)TGC>GGC	p.C157G		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	157						keratin filament	structural molecule activity				0						TTGGATAAGCAGTTAAGTTGT	0.443000												
KRTAP26-1	388818	broad.mit.edu	37	21	31691941	31691941	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:31691941C>T	uc002ynw.2	-	1	667	c.413G>A	c.(412-414)TGT>TAT	p.C138Y		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	138						intermediate filament				ovary(1)	1						ATTGGGCACACAGTCTCCTAT	0.552000												
KRTAP20-1	337975	broad.mit.edu	37	21	31988810	31988810	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:31988810T>C	uc011ade.1	+	1	37	c.37T>C	c.(37-39)TAT>CAT	p.Y13H	KRTAP6-1_uc002yop.2_5'Flank	NM_181615	NP_853646	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	13						intermediate filament				breast(1)	1						TGGCTATGGGTATGGTGGGCT	0.458000												
KRTAP21-2	337978	broad.mit.edu	37	21	32119422	32119422	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:32119422G>T	uc011adh.1	-	1	99	c.99C>A	c.(97-99)TAC>TAA	p.Y33*		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament					0						agccagagccgtatccacagc	0.100000												
SFRS15	57466	broad.mit.edu	37	21	33058000	33058000	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:33058000G>A	uc002ypd.2	-	17	2516	c.2090C>T	c.(2089-2091)CCG>CTG	p.P697L	SFRS15_uc002ype.2_Missense_Mutation_p.P697L|SFRS15_uc010glu.2_Missense_Mutation_p.P682L|SFRS15_uc002ypf.1_Missense_Mutation_p.P371L	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	697						nucleus	nucleotide binding|RNA binding				0						GAAAGCAGGCGGCTGGAGAGC	0.547000												
DNAJC28	54943	broad.mit.edu	37	21	34861340	34861340	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:34861340C>A	uc002yrv.2	-	2	810	c.361G>T	c.(361-363)GAA>TAA	p.E121*	DNAJC28_uc002yrw.2_Nonsense_Mutation_p.E121*	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	121	Poly-Glu.						heat shock protein binding				0						TCTACATCTTCTTCTTCTTCA	0.353000												
DOPEY2	9980	broad.mit.edu	37	21	37617711	37617711	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:37617711T>C	uc002yvg.2	+	19	3512	c.3433T>C	c.(3433-3435)TGT>CGT	p.C1145R	DOPEY2_uc011aeb.1_Missense_Mutation_p.C1094R|DOPEY2_uc002yvh.2_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1145					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						AGAGAACTGCTGTGCACCCAT	0.622000												
DSCAM	1826	broad.mit.edu	37	21	41414452	41414452	+	Silent	SNP	C	C	T	rs115504131	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:41414452C>T	uc002yyq.1	-	32	5984	c.5532G>A	c.(5530-5532)TCG>TCA	p.S1844S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1844	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAACTGCTCCGATGACGTGT	0.557000												
MX1	4599	broad.mit.edu	37	21	42824610	42824610	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:42824610C>T	uc002yzh.2	+	18	2519	c.1572C>T	c.(1570-1572)CAC>CAT	p.H524H	MX1_uc002yzi.2_Silent_p.H524H|MX1_uc010goq.2_Silent_p.H524H	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	524					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCCGCCTCCACTTCCAGATGG	0.423000												
RIPK4	54101	broad.mit.edu	37	21	43161183	43161183	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:43161183T>C	uc002yzn.1	-	8	2218	c.2170A>G	c.(2170-2172)AGC>GGC	p.S724G		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	724						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						ACATCGGCGCTGACCAACTCC	0.697000												
PRDM15	63977	broad.mit.edu	37	21	43222998	43222998	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:43222998C>T	uc002yzq.1	-	30	4026	c.3915G>A	c.(3913-3915)AAG>AAA	p.K1305K	PRDM15_uc002yzo.2_Silent_p.K976K|PRDM15_uc002yzp.2_Silent_p.K996K|PRDM15_uc002yzr.1_Silent_p.K996K	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTCTTCTGGCTTCTGCTTTC	0.572000												
CBS	875	broad.mit.edu	37	21	44484071	44484071	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:44484071C>T	uc002zcu.2	-	9	1012	c.767G>A	c.(766-768)GGC>GAC	p.G256D	CBS_uc002zcs.1_Missense_Mutation_p.G151D|CBS_uc002zct.2_Missense_Mutation_p.G256D|CBS_uc002zcw.3_Missense_Mutation_p.G256D|CBS_uc002zcv.2_Missense_Mutation_p.G256D	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	256	Pyridoxal phosphate binding.		Missing (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GCCGCCCGTGCCCACTGAAGC	0.592000												
PWP2	5822	broad.mit.edu	37	21	45540377	45540377	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:45540377G>T	uc002zeb.2	+	11	1427	c.1337G>T	c.(1336-1338)AGG>ATG	p.R446M		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	446	WD 9.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GACCTTCACAGGTGATGTTTT	0.627000												
KRTAP10-6	386674	broad.mit.edu	37	21	46011355	46011355	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:46011355C>T	uc002zfm.2	-	1	1032	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	keratin associated protein 10-6	337	29.|29 X 5 AA repeats of C-C-X(3).					keratin filament					0						CACAGGAGGCCGTGCGGCAGC	0.672000												
KRTAP10-12	386685	broad.mit.edu	37	21	46117397	46117397	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:46117397G>A	uc002zfw.1	+	1	311	c.281G>A	c.(280-282)TGC>TAC	p.C94Y	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	keratin associated protein 10-12	94	19 X 5 AA repeats of C-C-X(3).|5.					keratin filament					0						CAGCCGGCTTGCTGCACCTCC	0.672000												
UBE2G2	7327	broad.mit.edu	37	21	46207833	46207833	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:46207833A>G	uc002zfy.2	-	3	200	c.125_splice	c.e3+1	p.M42_splice	UBE2G2_uc002zfx.2_Splice_Site_p.M14_splice	NM_003343	NP_003334	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2 isoform 1						protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)	4				Colorectal(79;0.0638)		AAATTAACTTACATGATCAAT	0.383000												
COL6A2	1292	broad.mit.edu	37	21	47532203	47532203	+	Silent	SNP	G	G	T	rs149480738	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47532203G>T	uc002zia.1	+	3	508	c.426G>T	c.(424-426)ACG>ACT	p.T142T	COL6A2_uc002zhy.1_Silent_p.T142T|COL6A2_uc002zhz.1_Silent_p.T142T|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	142	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAACATGACGGAGCAGATCC	0.692000												
C21orf56	84221	broad.mit.edu	37	21	47581388	47581388	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47581388C>T	uc011afu.1	-	5	1990	c.928G>A	c.(928-930)GTG>ATG	p.V310M	C21orf56_uc002zii.2_Missense_Mutation_p.V156M	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN	hypothetical protein LOC84221 isoform 1	310							protein binding			skin(1)	1	Breast(49;0.214)			Colorectal(79;0.241)		GGGGGCACCACGTCGATGACC	0.672000												
PCNT	5116	broad.mit.edu	37	21	47831833	47831833	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47831833G>T	uc002zji.3	+	28	5953	c.5846G>T	c.(5845-5847)AGG>ATG	p.R1949M	PCNT_uc002zjj.2_Missense_Mutation_p.R1831M	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1949	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GAGCTGGACAGGCGGCAGGCC	0.721000												
DIP2A	23181	broad.mit.edu	37	21	47966845	47966845	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47966845C>T	uc002zjo.2	+	21	2595	c.2412C>T	c.(2410-2412)ATC>ATT	p.I804I	DIP2A_uc011afy.1_Silent_p.I740I|DIP2A_uc011afz.1_Silent_p.I800I|DIP2A_uc002zjm.2_Silent_p.I804I|DIP2A_uc010gql.2_Silent_p.I761I|DIP2A_uc002zjn.2_Silent_p.I804I|DIP2A_uc002zjq.2_Silent_p.I196I	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	804					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGGTCTTCATCGTGGGCAAAC	0.592000												
ZNF74	7625	broad.mit.edu	37	22	20759744	20759744	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:20759744C>T	uc010gsm.2	+	6	633	c.421C>T	c.(421-423)CGG>TGG	p.R141W	ZNF74_uc002zsg.2_Missense_Mutation_p.R70W|ZNF74_uc002zsh.2_Missense_Mutation_p.R141W|ZNF74_uc002zsi.2_Missense_Mutation_p.R70W|ZNF74_uc010gsn.2_Missense_Mutation_p.R70W	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	141					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CATCATGGAGCGGCCCCTCGG	0.637000												
ZNF74	7625	broad.mit.edu	37	22	20760486	20760486	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:20760486A>G	uc010gsm.2	+	6	1375	c.1163A>G	c.(1162-1164)TAC>TGC	p.Y388C	ZNF74_uc002zsg.2_Missense_Mutation_p.Y317C|ZNF74_uc002zsh.2_Missense_Mutation_p.Y388C|ZNF74_uc002zsi.2_Missense_Mutation_p.Y317C|ZNF74_uc010gsn.2_Missense_Mutation_p.Y317C	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	388	C2H2-type 6.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGAAGCCCTACCAGTGCGGC	0.647000												
KLHL22	84861	broad.mit.edu	37	22	20819706	20819706	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:20819706C>T	uc002zsl.1	-	4	660	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	KLHL22_uc011ahr.1_Missense_Mutation_p.R41Q|KLHL22_uc002zsm.1_Missense_Mutation_p.R184Q	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	184					cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTTGTCAGTCCGAGAGAAGGC	0.547000												
PI4KA	5297	broad.mit.edu	37	22	21064993	21064993	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:21064993G>A	uc002zsz.3	-	52	6134	c.5903C>T	c.(5902-5904)GCT>GTT	p.A1968V	PI4KA_uc010gsp.2_Missense_Mutation_p.A359V|PI4KA_uc002zsy.3_Missense_Mutation_p.A778V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1968	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCACCGCACAGCCAGGTAGCC	0.582000												
PI4KA	5297	broad.mit.edu	37	22	21098980	21098980	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:21098980C>T	uc002zsz.3	-	30	3449	c.3218G>A	c.(3217-3219)TGT>TAT	p.C1073Y		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	1073					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TTTCTTCACACAGGCCGGGCG	0.532000												
VPREB1	7441	broad.mit.edu	37	22	22599237	22599237	+	Silent	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:22599237T>A	uc002zvx.1	+	1	38	c.12T>A	c.(10-12)GCT>GCA	p.A4A	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	4					immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TGTCCTGGGCTCCTGTCCTGC	0.637000												
SUSD2	56241	broad.mit.edu	37	22	24581989	24581989	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24581989G>A	uc002zzn.1	+	9	1389	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	449	VWFD.|Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						CCTAGCCTCCGCCTTCGGAGA	0.642000												
CYTSA	23384	broad.mit.edu	37	22	24759282	24759282	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24759282C>T	uc002zzw.2	+	12	3104	c.2797C>T	c.(2797-2799)CCT>TCT	p.P933S	CYTSA_uc002zzv.3_Missense_Mutation_p.P933S|CYTSA_uc011ajq.1_Missense_Mutation_p.P933S	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	933					cell cycle|cell division						0						GCCAAGAGTGCCTGCGATGGA	0.358000												
TFIP11	24144	broad.mit.edu	37	22	26890245	26890245	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:26890245C>T	uc003acr.2	-	13	2392	c.2018G>A	c.(2017-2019)AGC>AAC	p.S673N	TFIP11_uc003acq.2_Missense_Mutation_p.S32N|TFIP11_uc003acs.2_Missense_Mutation_p.S673N|TFIP11_uc003act.2_Missense_Mutation_p.S673N|uc003acu.1_RNA	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	673					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0						ATAATTTGGGCTGTTACTGAG	0.443000												
CRYBA4	1413	broad.mit.edu	37	22	27019233	27019233	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:27019233G>A	uc003acz.3	+	3	110	c.75G>A	c.(73-75)CGG>CGA	p.R25R		NM_001886	NP_001877	P53673	CRBA4_HUMAN	crystallin, beta A4	25	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens				0						TCCAGGGCCGGCGGCACGAGT	0.597000												
MN1	4330	broad.mit.edu	37	22	28193520	28193520	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:28193520C>T	uc003adj.2	-	1	3967	c.3012G>A	c.(3010-3012)GCG>GCA	p.A1004A		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1004							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GCGACGTGAGCGCCTTTTCGT	0.701000			T	ETV6	AML|meningioma							
EWSR1	2130	broad.mit.edu	37	22	29694762	29694762	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:29694762G>A	uc003aet.2	+	14	1785	c.1457G>A	c.(1456-1458)CGC>CAC	p.R486H	EWSR1_uc003aev.2_Missense_Mutation_p.R491H|EWSR1_uc003aew.2_Missense_Mutation_p.R430H|EWSR1_uc003aex.2_Missense_Mutation_p.R485H|EWSR1_uc003aey.2_Missense_Mutation_p.R281H|EWSR1_uc003aez.2_Missense_Mutation_p.R147H	NM_005243	NP_005234	Q01844	EWS_HUMAN	Ewing sarcoma breakpoint region 1 isoform 2	486	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						CCCATGGGTCGCATGGGAGGC	0.577000			T	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1	Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma							
GAL3ST1	9514	broad.mit.edu	37	22	30951410	30951410	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:30951410A>G	uc003aig.1	-	4	942	c.802T>C	c.(802-804)TGG>CGG	p.W268R	GAL3ST1_uc003aih.1_Missense_Mutation_p.W268R|GAL3ST1_uc003aii.1_Missense_Mutation_p.W268R|GAL3ST1_uc010gvz.1_Missense_Mutation_p.W268R	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	268	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0						TCCAGCTCCCAGCACAGCAGG	0.657000												
SMTN	6525	broad.mit.edu	37	22	31487145	31487145	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:31487145G>A	uc003ajl.1	+	10	1354	c.1136G>A	c.(1135-1137)AGC>AAC	p.S379N	SMTN_uc003ajk.1_Missense_Mutation_p.S379N|SMTN_uc003ajm.1_Missense_Mutation_p.S379N|SMTN_uc011ale.1_Missense_Mutation_p.S433N|SMTN_uc011alf.1_Missense_Mutation_p.S435N|SMTN_uc003ajn.1_Missense_Mutation_p.S371N|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	379					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						TCCTCCTCCAGCGGCTCCTCC	0.692000												
PATZ1	23598	broad.mit.edu	37	22	31741294	31741294	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:31741294C>G	uc003akq.2	-	1	956	c.295G>C	c.(295-297)GGG>CGG	p.G99R	PATZ1_uc003akp.2_Missense_Mutation_p.G99R|PATZ1_uc003akr.2_Missense_Mutation_p.G99R|PATZ1_uc003aks.2_Missense_Mutation_p.G99R|uc003akt.2_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	99	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						CGGCTGCCCCCGGCCCCGCCG	0.667000												
LARGE	9215	broad.mit.edu	37	22	33670583	33670583	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:33670583C>T	uc003and.3	-	16	2680	c.2101G>A	c.(2101-2103)GCC>ACC	p.A701T	LARGE_uc011amd.1_Missense_Mutation_p.A500T|LARGE_uc003ane.3_Missense_Mutation_p.A701T|LARGE_uc010gwp.2_Missense_Mutation_p.A649T|LARGE_uc011ame.1_Missense_Mutation_p.A633T|LARGE_uc011amf.1_Missense_Mutation_p.A652T	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	701	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				ATCATGTAGGCGTTGGGCAGC	0.517000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LARGE	9215	broad.mit.edu	37	22	34157424	34157424	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:34157424C>T	uc003and.3	-	3	619	c.40G>A	c.(40-42)GCC>ACC	p.A14T	LARGE_uc003ane.3_Missense_Mutation_p.A14T|LARGE_uc010gwp.2_Missense_Mutation_p.A14T|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.A14T	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	14	Helical; Signal-anchor for type II membrane protein; (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				CTCAACGAGGCAGCCAAGAAT	0.532000												
MYH9	4627	broad.mit.edu	37	22	36680499	36680499	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:36680499G>A	uc003apg.2	-	39	5773	c.5542C>T	c.(5542-5544)CTG>TTG	p.L1848L		NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	1848	Potential.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						ACCTGCAGCAGCACATCCTTC	0.637000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
NCF4	4689	broad.mit.edu	37	22	37260993	37260993	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:37260993A>G	uc003apy.3	+	3	334	c.150A>G	c.(148-150)GGA>GGG	p.G50G	NCF4_uc003apz.3_Silent_p.G50G	NM_000631	NP_000622	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4 isoform 1	50	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			ovary(1)	1						CAAAAGGAGGATCCAAGTACC	0.582000												
ELFN2	114794	broad.mit.edu	37	22	37770940	37770940	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:37770940C>T	uc003asq.3	-	3	1421	c.635G>A	c.(634-636)CGC>CAC	p.R212H		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	212	LRRCT.|Extracellular (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					ACACTGCAGGCGGTCGTAGTT	0.632000												
GCAT	23464	broad.mit.edu	37	22	38211780	38211780	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:38211780G>A	uc003atz.2	+	7	945	c.925G>A	c.(925-927)GCC>ACC	p.A309T	GCAT_uc003aua.1_Missense_Mutation_p.A335T	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	309					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGCCTCCAAGGCCCTAGATCT	0.657000												
ANKRD54	129138	broad.mit.edu	37	22	38234581	38234581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:38234581G>A	uc003auc.2	-	3	459	c.401C>T	c.(400-402)GCG>GTG	p.A134V	ANKRD54_uc003aud.2_Missense_Mutation_p.A11V	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	134	ANK 1.										0	Melanoma(58;0.045)					ACAGGGATCCGCGCCATCTTC	0.592000												
KCNJ4	3761	broad.mit.edu	37	22	38823103	38823103	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:38823103C>T	uc003avs.1	-	2	1132	c.1035G>A	c.(1033-1035)ACG>ACA	p.T345T	KCNJ4_uc003avt.1_Silent_p.T345T	NM_004981	NP_004972	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel J4	345	Cytoplasmic (By similarity).				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding				0	Melanoma(58;0.0286)					AGCAGCAGGGCGTGCCGGCCA	0.642000												
MGAT3	4248	broad.mit.edu	37	22	39884006	39884006	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:39884006C>T	uc003axv.3	+	2	893	c.654C>T	c.(652-654)TTC>TTT	p.F218F	MGAT3_uc010gxy.2_Silent_p.F218F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	218	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)					ACCACGAGTTCGACCTGCTGG	0.652000												
TNRC6B	23112	broad.mit.edu	37	22	40681739	40681739	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:40681739C>T	uc011aor.1	+	12	3884	c.3673C>T	c.(3673-3675)CGG>TGG	p.R1225W	TNRC6B_uc003aym.2_Missense_Mutation_p.R421W|TNRC6B_uc003ayn.3_Missense_Mutation_p.R1115W|TNRC6B_uc003ayo.2_Missense_Mutation_p.R972W	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	1225					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						TCCCAGTCTCCGGGCGCAAGT	0.473000												
EP300	2033	broad.mit.edu	37	22	41574595	41574595	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:41574595C>A	uc003azl.3	+	31	7275	c.6880C>A	c.(6880-6882)CTA>ATA	p.L2294I		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2294					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GTCCCCACACCTACAAGGCCA	0.612000			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
RANGAP1	5905	broad.mit.edu	37	22	41652064	41652064	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:41652064A>G	uc003azs.2	-	9	2504	c.1034T>C	c.(1033-1035)CTG>CCG	p.L345P	RANGAP1_uc003azt.2_Missense_Mutation_p.L345P|RANGAP1_uc003azu.2_Missense_Mutation_p.L345P|RANGAP1_uc011aoz.1_Missense_Mutation_p.L290P	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	345					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GAAGCCCTCCAGCACCTCCTG	0.582000												
TCF20	6942	broad.mit.edu	37	22	42610384	42610384	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:42610384G>T	uc003bcj.1	-	1	1062	c.928C>A	c.(928-930)CAA>AAA	p.Q310K	TCF20_uc003bck.1_Missense_Mutation_p.Q310K|TCF20_uc003bnt.2_Missense_Mutation_p.Q310K	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	310	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						tgcCCCTGTTGGGTCCCTTGT	0.398000												
CYB5R3	1727	broad.mit.edu	37	22	43024235	43024235	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:43024235T>C	uc003bcz.2	-	5	470	c.386A>G	c.(385-387)CAG>CGG	p.Q129R	CYB5R3_uc010gzc.1_Missense_Mutation_p.Q3R|CYB5R3_uc003bcw.2_Missense_Mutation_p.Q119R|CYB5R3_uc011aps.1_Missense_Mutation_p.Q162R|CYB5R3_uc003bcy.2_Missense_Mutation_p.Q106R|CYB5R3_uc003bcx.2_Missense_Mutation_p.Q106R	NM_000398	NP_000389	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3 isoform m	129	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			skin(1)	1					NADH(DB00157)	CTCCAGGTACTGAGACATCTT	0.592000												
C22orf9	23313	broad.mit.edu	37	22	45599792	45599792	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:45599792C>T	uc003bfx.1	-	6	657	c.591G>A	c.(589-591)ACG>ACA	p.T197T	C22orf9_uc010gzw.1_Silent_p.T49T|C22orf9_uc003bfv.1_Silent_p.T206T|C22orf9_uc003bfw.1_Silent_p.T202T|C22orf9_uc010gzx.2_Silent_p.T179T|MIR1249_hsa-mir-1249|MI0006384_5'Flank	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	hypothetical protein LOC23313 isoform b	197							protein binding				0		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)		CCCCCTGGAACGTGTTGGTTT	0.587000												
FAM118A	55007	broad.mit.edu	37	22	45719132	45719132	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:45719132G>A	uc003bfz.3	+	4	740	c.124G>A	c.(124-126)GTG>ATG	p.V42M	FAM118A_uc003bga.3_Missense_Mutation_p.V42M	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	42	Helical; (Potential).					integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CAGCGCAGCAGTGGCCCCCGG	0.587000												
SMC1B	27127	broad.mit.edu	37	22	45809407	45809407	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:45809407C>T	uc003bgc.2	-	1	94	c.42G>A	c.(40-42)TCG>TCA	p.S14S	SMC1B_uc003bgd.2_Silent_p.S14S|RIBC2_uc011aqs.1_5'Flank	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	SMC1 structural maintenance of chromosomes	14					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			ovary(2)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCCCCGCCACGACTTGAAAT	0.662000												
ZBED4	9889	broad.mit.edu	37	22	50277809	50277809	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50277809A>G	uc003bix.2	+	2	969	c.499A>G	c.(499-501)ACC>GCC	p.T167A		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	167	BED-type 1.					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGCACACCCGACCGTGCTCAT	0.562000												
CRELD2	79174	broad.mit.edu	37	22	50312881	50312881	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50312881A>G	uc003bja.2	+	2	268	c.133A>G	c.(133-135)ATG>GTG	p.M45V	ALG12_uc003biy.2_5'Flank|CRELD2_uc003biz.3_Missense_Mutation_p.M45V|CRELD2_uc010haj.2_Missense_Mutation_p.M45V|CRELD2_uc010hal.2_Missense_Mutation_p.M45V|CRELD2_uc010hak.2_Missense_Mutation_p.M45V|CRELD2_uc010ham.2_Missense_Mutation_p.M45V	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2 isoform b	45						endoplasmic reticulum|extracellular region	calcium ion binding				0		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGCAGGGGATGGTGGACAC	0.652000												
TUBGCP6	85378	broad.mit.edu	37	22	50659439	50659439	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50659439C>T	uc003bkb.1	-	16	3861	c.3349G>A	c.(3349-3351)GTC>ATC	p.V1117I	TUBGCP6_uc003bka.1_Missense_Mutation_p.V204I|TUBGCP6_uc010har.1_Missense_Mutation_p.V1109I|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1117	9 X 27 AA tandem repeats.|4.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCTCCCCGACCCTGATGCTG	0.597000												
SAPS2	9701	broad.mit.edu	37	22	50875968	50875968	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50875968G>A	uc003blb.1	+	17	2139	c.1717G>A	c.(1717-1719)GCC>ACC	p.A573T	SAPS2_uc003bky.1_Missense_Mutation_p.A546T|SAPS2_uc003bkz.1_Missense_Mutation_p.A546T|SAPS2_uc003blc.2_Missense_Mutation_p.A573T|SAPS2_uc003bla.1_Missense_Mutation_p.A547T|SAPS2_uc003bld.1_Missense_Mutation_p.A105T	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	573						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		GCAGATGACAGCCAACTTCGT	0.483000												
SAPS2	9701	broad.mit.edu	37	22	50879229	50879229	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50879229G>A	uc003blb.1	+	23	2797	c.2375_splice	c.e23-1	p.S792_splice	SAPS2_uc003bky.1_Intron|SAPS2_uc003bkz.1_Intron|SAPS2_uc003blc.2_Intron|SAPS2_uc003bla.1_Intron|SAPS2_uc003bld.1_Intron	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2							cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		TCACTGGACAGCACAGGCCTC	0.622000												
SBF1	6305	broad.mit.edu	37	22	50901336	50901336	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50901336G>T	uc003blh.2	-	17	2126	c.1931C>A	c.(1930-1932)GCG>GAG	p.A644E	SBF1_uc011arx.1_Missense_Mutation_p.A308E|SBF1_uc003bli.2_Missense_Mutation_p.A645E	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	644					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGCCGCCGCAATGCCATG	0.652000												
ARSA	410	broad.mit.edu	37	22	51065609	51065609	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:51065609C>T	uc003bnb.3	-	3	697	c.444G>A	c.(442-444)CCG>CCA	p.P148P	ARSA_uc003bna.3_Silent_p.P64P|ARSA_uc003bnc.3_Silent_p.P148P|ARSA_uc003bnd.3_Silent_p.P148P|ARSA_uc003bmz.3_Silent_p.P148P|ARSA_uc010hbf.2_Silent_p.P148P	NM_001085426	NP_001078895	P15289	ARSA_HUMAN	arylsulfatase A isoform a precursor	148			P -> L (in MLD; juvenile-onset).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			pancreas(1)|skin(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CGTGGGAGTACGGGATGCCTA	0.672000												
ITPR1	3708	broad.mit.edu	37	3	4709146	4709146	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:4709146A>G	uc003bqa.2	+	18	2147	c.1799A>G	c.(1798-1800)CAC>CGC	p.H600R	ITPR1_uc010hca.1_Missense_Mutation_p.H585R|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.H585R	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	600	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCCTGCTCCACAATAATCGG	0.488000												
CAMK1	8536	broad.mit.edu	37	3	9799262	9799262	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:9799262C>T	uc003bst.2	-	12	1252	c.1074G>A	c.(1072-1074)CCG>CCA	p.P358P	OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_Missense_Mutation_p.R168Q	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	358					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)|skin(1)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GTTCTGTGCCCGGCTCCACGC	0.687000												
ATP2B2	491	broad.mit.edu	37	3	10426972	10426972	+	Missense_Mutation	SNP	G	G	A	rs149708084		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:10426972G>A	uc003bvt.2	-	8	1419	c.980C>T	c.(979-981)GCG>GTG	p.A327V	ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	327	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCTGGCATTCGCACTATCTGC	0.557000												
IQSEC1	9922	broad.mit.edu	37	3	12977083	12977083	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:12977083C>T	uc003bxt.2	-	3	1484	c.1475G>A	c.(1474-1476)CGT>CAT	p.R492H	IQSEC1_uc003bxu.3_Missense_Mutation_p.R370H|IQSEC1_uc011auw.1_Missense_Mutation_p.R478H	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	492					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						CAGGCTGTCACGGGACGATGA	0.572000												
EAF1	85403	broad.mit.edu	37	3	15477988	15477988	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:15477988G>A	uc003bzu.2	+	5	889	c.666G>A	c.(664-666)CCG>CCA	p.P222P	EAF1_uc011avq.1_Silent_p.P121P	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN	ELL associated factor 1	222	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)	1						CCTCTCCTCCGCAGCCTTCAC	0.587000												
KCNH8	131096	broad.mit.edu	37	3	19436626	19436626	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19436626C>T	uc003cbk.1	+	7	1195	c.1000C>T	c.(1000-1002)CGC>TGC	p.R334C	KCNH8_uc011awe.1_Missense_Mutation_p.R334C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	334	Helical; Voltage-sensor; Name=Segment S4; (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						AAAGACAGTGCGCCTCTTGCG	0.478000												
KCNH8	131096	broad.mit.edu	37	3	19479763	19479763	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19479763C>A	uc003cbk.1	+	8	1480	c.1285C>A	c.(1285-1287)CTG>ATG	p.L429M	KCNH8_uc011awe.1_Missense_Mutation_p.L429M|KCNH8_uc010hex.1_Translation_Start_Site|KCNH8_uc011awf.1_Missense_Mutation_p.L60M	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	429						integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GTACTTCACGCTGAGCAGCCT	0.507000												
KCNH8	131096	broad.mit.edu	37	3	19498410	19498410	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19498410A>G	uc003cbk.1	+	11	2171	c.1976A>G	c.(1975-1977)CAC>CGC	p.H659R	KCNH8_uc010hex.1_Missense_Mutation_p.H120R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	659	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						GAATATGCTCACAAATTCGTG	0.413000												
KAT2B	8850	broad.mit.edu	37	3	20167584	20167584	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:20167584T>G	uc003cbq.2	+	10	2047	c.1601T>G	c.(1600-1602)ATC>AGC	p.I534S		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	534	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAAGAATACATCACACGGCTC	0.448000												
OSBPL10	114884	broad.mit.edu	37	3	31705669	31705669	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:31705669T>C	uc003cev.2	-	12	2533	c.2152A>G	c.(2152-2154)ACC>GCC	p.T718A	OSBPL10_uc003ceu.1_Missense_Mutation_p.T475A|OSBPL10_uc011axf.1_Missense_Mutation_p.T654A	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	718					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)		TTCTGCTCGGTGGCTGCGTCA	0.612000												
GLB1	2720	broad.mit.edu	37	3	33038574	33038574	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:33038574G>A	uc003cfi.1	-	16	2114	c.1997C>T	c.(1996-1998)CCG>CTG	p.P666L	GLB1_uc003cfh.1_Missense_Mutation_p.P636L|GLB1_uc003cfj.1_Missense_Mutation_p.P535L|GLB1_uc011axk.1_Missense_Mutation_p.P714L	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	666					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)				GTTTTTTTGCGGGGGTGGGGG	0.483000												
ARPP21	10777	broad.mit.edu	37	3	35748505	35748505	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:35748505A>G	uc003cgb.2	+	10	990	c.726A>G	c.(724-726)AAA>AAG	p.K242K	ARPP21_uc003cga.2_Silent_p.K242K|ARPP21_uc011axy.1_Silent_p.K242K|ARPP21_uc003cgf.2_Silent_p.K78K	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	cyclic AMP-regulated phosphoprotein, 21 kD	242						cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3						AAGATGAAAAAGGTGAAGAAT	0.348000												
SCN5A	6331	broad.mit.edu	37	3	38640527	38640527	+	Missense_Mutation	SNP	C	C	A	rs67518036		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:38640527C>A	uc003cio.2	-	13	2099	c.1905G>T	c.(1903-1905)GAG>GAT	p.E635D	SCN5A_uc003cin.2_Missense_Mutation_p.E635D|SCN5A_uc003cil.3_Missense_Mutation_p.E635D|SCN5A_uc010hhi.2_Missense_Mutation_p.E635D|SCN5A_uc010hhk.2_Missense_Mutation_p.E635D|SCN5A_uc011ayr.1_Missense_Mutation_p.E635D|SCN5A_uc010hhj.1_Missense_Mutation_p.E246D	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	635					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGCCTGGCTCCTCCGATGGCG	0.672000												
TTC21A	199223	broad.mit.edu	37	3	39175776	39175776	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:39175776C>T	uc003cjc.2	+	21	3017	c.2840C>T	c.(2839-2841)GCC>GTC	p.A947V	TTC21A_uc003cje.2_Missense_Mutation_p.A948V|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.A899V|TTC21A_uc011ayy.1_Missense_Mutation_p.A68V|TTC21A_uc003cjf.2_Missense_Mutation_p.A68V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	947	TPR 14.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGCACTGTGCCATCCTCCTG	0.602000												
ZNF662	389114	broad.mit.edu	37	3	42956634	42956634	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:42956634G>A	uc003cmi.2	+	5	1421	c.1069G>A	c.(1069-1071)GAC>AAC	p.D357N	ZNF662_uc003cmk.2_Missense_Mutation_p.D383N|ZNF662_uc003cmj.2_Missense_Mutation_p.D249N	NM_207404	NP_997287	Q6ZS27	ZN662_HUMAN	zinc finger protein 662 isoform 1	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CCACACTGGGGACAAGCCTCA	0.473000												
LARS2	23395	broad.mit.edu	37	3	45561788	45561788	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:45561788G>A	uc003cop.1	+	19	2477	c.2292G>A	c.(2290-2292)TCG>TCA	p.S764S	LARS2_uc010hit.1_Silent_p.S721S	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	764					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ATGCCCTCTCGGTAAGTGGCC	0.532000												
PTH1R	5745	broad.mit.edu	37	3	46940909	46940909	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:46940909G>T	uc003cqm.2	+	10	1154	c.951G>T	c.(949-951)GAG>GAT	p.E317D	PTH1R_uc003cqn.2_Missense_Mutation_p.E317D	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	317	Cytoplasmic (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						TCTTCTCAGAGAAGAAGTACC	0.597000									Ollier_disease_/_Maffuci_syndrome			
SCAP	22937	broad.mit.edu	37	3	47462067	47462067	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:47462067G>A	uc003crh.1	-	12	1795	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C	SCAP_uc011baz.1_Missense_Mutation_p.R259C|SCAP_uc003crg.2_Missense_Mutation_p.R122C	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	514	Cytoplasmic (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGTGCCAGGCGGGTGCGGGCC	0.667000											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PLXNB1	5364	broad.mit.edu	37	3	48464342	48464342	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48464342A>C	uc003csw.2	-	4	1392	c.1122T>G	c.(1120-1122)GCT>GCG	p.A374A	PLXNB1_uc003csu.2_Silent_p.A374A|PLXNB1_uc003csx.2_Silent_p.A374A|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	374	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGGGATAAGCATCCAGGG	0.617000												
ATRIP	84126	broad.mit.edu	37	3	48501769	48501769	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48501769C>T	uc003ctf.1	+	8	1348	c.1316C>T	c.(1315-1317)GCT>GTT	p.A439V	ATRIP_uc011bbj.1_Missense_Mutation_p.A312V|ATRIP_uc003ctg.1_Missense_Mutation_p.A439V|TREX1_uc010hjy.2_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	439					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GACTTGGCAGCTGCTAAGAGA	0.592000								Other_conserved_DNA_damage_response_genes				
CELSR3	1951	broad.mit.edu	37	3	48691331	48691331	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48691331C>T	uc003cul.2	-	8	5539	c.5258G>A	c.(5257-5259)GGC>GAC	p.G1753D	CELSR3_uc003cuf.1_Missense_Mutation_p.G1823D|CELSR3_uc010hkg.2_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1753	Extracellular (Potential).|EGF-like 4; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTTTGCCGCCGAAGCCCAC	0.597000												
ARIH2	10425	broad.mit.edu	37	3	49012281	49012281	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49012281A>G	uc003cvb.2	+	10	1232	c.920A>G	c.(919-921)AAT>AGT	p.N307S	ARIH2_uc003cvc.2_Missense_Mutation_p.N307S|ARIH2_uc003cvf.2_Missense_Mutation_p.N225S|ARIH2_uc010hkl.2_Missense_Mutation_p.N307S	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	307	RING-type 2.				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ATTGAGAAGAATGGAGGCTGC	0.473000												
LAMB2	3913	broad.mit.edu	37	3	49159460	49159460	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49159460C>T	uc003cwe.2	-	29	5139	c.4840G>A	c.(4840-4842)GCC>ACC	p.A1614T	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1614	Potential.|Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCCGCTGGGCCTCCTCCAGT	0.602000												
DAG1	1605	broad.mit.edu	37	3	49568926	49568926	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49568926A>G	uc003cxc.3	+	3	1400	c.982A>G	c.(982-984)ACC>GCC	p.T328A		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	328	Thr-rich.|Required for laminin recognition.|Mucin-like domain.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGGGCCCCCAACCACGGCTAT	0.612000												
BSN	8927	broad.mit.edu	37	3	49692496	49692496	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49692496A>T	uc003cxe.3	+	5	5621	c.5507A>T	c.(5506-5508)GAG>GTG	p.E1836V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1836					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGTGCCAGAGCCAGGTGCC	0.627000												
MST1R	4486	broad.mit.edu	37	3	49936360	49936360	+	Silent	SNP	C	C	T	rs55898810	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49936360C>T	uc003cxy.3	-	3	1752	c.1488G>A	c.(1486-1488)CAG>CAA	p.Q496Q	MST1R_uc011bdd.1_Silent_p.Q496Q|MST1R_uc011bde.1_Silent_p.Q496Q|MST1R_uc011bdf.1_Intron|MST1R_uc011bdc.1_5'Flank	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor	496	Extracellular (Potential).|Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			ovary(5)|lung(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCTGCACGGGCTGCCCACTGT	0.597000												
IFRD2	7866	broad.mit.edu	37	3	50325851	50325851	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50325851G>A	uc011bdp.1	-	11	1558	c.1429C>T	c.(1429-1431)CGC>TGC	p.R477C	IFRD2_uc003czb.2_Missense_Mutation_p.R579C	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	477							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTCAAAGCGTGGAACCTTG	0.592000												
IFRD2	7866	broad.mit.edu	37	3	50329820	50329820	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50329820C>T	uc011bdp.1	-	1	207	c.78G>A	c.(76-78)GTG>GTA	p.V26V	IFRD2_uc003czb.2_Silent_p.V128V	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	26							binding			lung(2)|ovary(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGGGAGCCACACGCCACGCG	0.652000												
CACNA2D2	9254	broad.mit.edu	37	3	50418199	50418199	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50418199G>A	uc003daq.2	-	8	860	c.822C>T	c.(820-822)TAC>TAT	p.Y274Y	CACNA2D2_uc003dap.2_Silent_p.Y274Y	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha	274	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TTCGGACATCGTACAGGTCGA	0.642000												
DNAH1	25981	broad.mit.edu	37	3	52425502	52425502	+	Missense_Mutation	SNP	C	C	T	rs114919804	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:52425502C>T	uc011bef.1	+	63	10196	c.9935C>T	c.(9934-9936)ACG>ATG	p.T3312M	DNAH1_uc003ddv.2_Missense_Mutation_p.T170M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3377	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGGGGACACGGTGATCCCC	0.597000												
NISCH	11188	broad.mit.edu	37	3	52526437	52526437	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:52526437T>C	uc011beg.1	+	22	4526	c.4454T>C	c.(4453-4455)CTG>CCG	p.L1485P	NISCH_uc003ded.3_Missense_Mutation_p.L1485P|NISCH_uc003dee.3_Missense_Mutation_p.L974P|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.L234P|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.2_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1485					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)		CTCATCTCGCTGTTGGCTCGC	0.672000												
WNT5A	7474	broad.mit.edu	37	3	55504317	55504317	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:55504317C>T	uc003dhn.2	-	5	1264	c.946G>A	c.(946-948)GGC>AGC	p.G316S	WNT5A_uc003dhm.2_Missense_Mutation_p.G301S|WNT5A_uc010hmw.2_Missense_Mutation_p.G301S|WNT5A_uc010hmx.2_Missense_Mutation_p.G227S	NM_003392	NP_003383	P41221	WNT5A_HUMAN	wingless-type MMTV integration site family,	316					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCAGCGAGCCGGTGCTCTCA	0.622000												
C3orf63	23272	broad.mit.edu	37	3	56681220	56681220	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:56681220C>T	uc003did.3	-	14	1646	c.1545G>A	c.(1543-1545)CAG>CAA	p.Q515Q	C3orf63_uc003dic.3_Silent_p.Q119Q|C3orf63_uc003die.3_Silent_p.Q515Q	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	515										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CATGCCTCTCCTGTGGTGCTG	0.338000												
FLNB	2317	broad.mit.edu	37	3	58084494	58084494	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:58084494G>A	uc003djj.2	+	8	1369	c.1204G>A	c.(1204-1206)GTG>ATG	p.V402M	FLNB_uc010hne.2_Missense_Mutation_p.V402M|FLNB_uc003djk.2_Missense_Mutation_p.V402M|FLNB_uc010hnf.2_Missense_Mutation_p.V402M|FLNB_uc003djl.2_Missense_Mutation_p.V233M|FLNB_uc003djm.2_Missense_Mutation_p.V233M	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	402	Filamin 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAGAACACCGTGGAGTTGCT	0.537000												
FLNB	2317	broad.mit.edu	37	3	58148890	58148890	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:58148890C>A	uc003djj.2	+	43	7196	c.7031C>A	c.(7030-7032)GCT>GAT	p.A2344D	FLNB_uc010hne.2_Missense_Mutation_p.A2375D|FLNB_uc003djk.2_Missense_Mutation_p.A2333D|FLNB_uc010hnf.2_Missense_Mutation_p.A2320D|FLNB_uc003djl.2_Missense_Mutation_p.A2164D|FLNB_uc003djm.2_Missense_Mutation_p.A2151D|uc003djn.2_RNA	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	2344	Filamin 22.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GATAAGTATGCTGTTCGCTTC	0.507000												
PSMD6	9861	broad.mit.edu	37	3	64004573	64004573	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:64004573A>G	uc003dma.1	-	4	663	c.638T>C	c.(637-639)CTC>CCC	p.L213P	PSMD6_uc003dlz.1_Missense_Mutation_p.L164P|PSMD6_uc003dmb.1_Missense_Mutation_p.L266P|PSMD6_uc003dmc.1_Missense_Mutation_p.L174P|PSMD6_uc003dmd.1_Missense_Mutation_p.L175P	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit,	213	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|skin(1)	2		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ATAATCCATGAGTTCATAGGA	0.363000												
PRICKLE2	166336	broad.mit.edu	37	3	64145667	64145667	+	Silent	SNP	G	G	A	rs148888682	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:64145667G>A	uc003dmf.2	-	4	931	c.345C>T	c.(343-345)CGC>CGT	p.R115R		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	115	PET.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGACATTCCCGCGGCCCAAGT	0.502000												
MAGI1	9223	broad.mit.edu	37	3	65342547	65342547	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:65342547G>A	uc003dmn.2	-	23	4421	c.3895C>T	c.(3895-3897)CGG>TGG	p.R1299W	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1328					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCCGGCGCCCGGTCCTTGGGT	0.682000												
LRIG1	26018	broad.mit.edu	37	3	66467592	66467592	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:66467592C>T	uc003dmx.2	-	4	478	c.464G>A	c.(463-465)CGG>CAG	p.R155Q	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.R155Q	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	155	Extracellular (Potential).|LRR 4.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCAGGTGTTCCGCACTTCCGT	0.547000												
FOXP1	27086	broad.mit.edu	37	3	71015081	71015081	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:71015081C>T	uc003dol.2	-	16	2172	c.1849G>A	c.(1849-1851)GAG>AAG	p.E617K	FOXP1_uc003dom.2_Missense_Mutation_p.E541K|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.E616K|FOXP1_uc003dop.2_Missense_Mutation_p.E617K|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Missense_Mutation_p.E517K|FOXP1_uc003doj.2_Missense_Mutation_p.E517K|FOXP1_uc003dok.2_Missense_Mutation_p.E430K	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	617					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTCACTCTCGTTGCTGTTG	0.532000			T	PAX5	ALL							
PDZRN3	23024	broad.mit.edu	37	3	73433940	73433940	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:73433940C>T	uc003dpl.1	-	10	1873	c.1777G>A	c.(1777-1779)GCC>ACC	p.A593T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A250T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A291T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A310T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A313T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	593							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATGCGGTGGCGTCGTCGCCA	0.627000												
CRYBG3	131544	broad.mit.edu	37	3	97614817	97614817	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:97614817A>G	uc003drx.2	+	9	1809	c.1745A>G	c.(1744-1746)GAA>GGA	p.E582G		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						GTTGCCTATGAAAAAGAACAT	0.398000												
TBC1D23	55773	broad.mit.edu	37	3	100029334	100029334	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:100029334G>A	uc003dtt.2	+	14	1678	c.1501G>A	c.(1501-1503)GTC>ATC	p.V501I	TBC1D23_uc003dts.2_Missense_Mutation_p.V501I	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	501						intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						ATCCGTTAATGTCAGGGAAAA	0.328000												
BBX	56987	broad.mit.edu	37	3	107491997	107491997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:107491997C>T	uc010hpr.2	+	11	1756	c.1429C>T	c.(1429-1431)CAG>TAG	p.Q477*	BBX_uc003dwk.3_Nonsense_Mutation_p.Q477*|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Nonsense_Mutation_p.Q498*|BBX_uc003dwm.3_Nonsense_Mutation_p.Q477*|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	477	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAAAAGAGGCAGTCTTCGGA	0.408000												
SLC9A10	285335	broad.mit.edu	37	3	111898417	111898417	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:111898417T>C	uc003dyu.2	-	23	3102	c.2880A>G	c.(2878-2880)GAA>GAG	p.E960E	SLC9A10_uc011bhu.1_Silent_p.E223E|SLC9A10_uc010hqc.2_Silent_p.E912E	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	sperm-specific sodium proton exchanger	960	cNMP.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5						ATTTCATAGGTTCATTAGTTA	0.348000												
CCDC80	151887	broad.mit.edu	37	3	112357464	112357464	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:112357464G>A	uc003dzf.2	-	2	1507	c.1289C>T	c.(1288-1290)ACC>ATC	p.T430I	CCDC80_uc011bhv.1_Missense_Mutation_p.T430I|CCDC80_uc003dzg.2_Missense_Mutation_p.T430I|CCDC80_uc003dzh.1_Missense_Mutation_p.T430I	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	430										ovary(2)	2						GGGCCTCCTGGTTGTCTGTGG	0.587000												
SIDT1	54847	broad.mit.edu	37	3	113300284	113300284	+	Missense_Mutation	SNP	C	C	T	rs145086177		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:113300284C>T	uc003eak.2	+	6	1391	c.740C>T	c.(739-741)ACG>ATG	p.T247M	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.T247M|SIDT1_uc011big.1_Translation_Start_Site	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	247	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GCTGCCATCACGCTACAGGTG	0.468000												
IGSF11	152404	broad.mit.edu	37	3	118621466	118621466	+	Silent	SNP	T	T	C	rs146853299		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:118621466T>C	uc003ebw.2	-	7	1444	c.1197A>G	c.(1195-1197)CCA>CCG	p.P399P	IGSF11_uc011biv.1_Silent_p.P371P|IGSF11_uc003ebx.2_Silent_p.P375P|IGSF11_uc003eby.2_Silent_p.P398P|IGSF11_uc003ebz.2_Silent_p.P374P|IGSF11_uc010hqs.2_Silent_p.P398P	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11 isoform b	399	Cytoplasmic (Potential).				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0						AATGAGTGTGTGGAGGCCGAG	0.557000												
POPDC2	64091	broad.mit.edu	37	3	119367156	119367156	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:119367156A>G	uc003ecx.1	-	3	1094	c.960T>C	c.(958-960)CCT>CCC	p.P320P	POPDC2_uc010hqw.1_Silent_p.P320P|POPDC2_uc003ecy.1_Silent_p.P138P	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	popeye protein 2	320				ATTNFPAPPTRARL -> RFPPTFPALSYRGQVC (in Ref. 1).		integral to membrane				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.242)		TAGGAGGTGCAGGAAAGTTGG	0.592000												
C3orf15	89876	broad.mit.edu	37	3	119445068	119445068	+	Missense_Mutation	SNP	C	C	T	rs144275264		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:119445068C>T	uc003ede.3	+	7	810	c.733C>T	c.(733-735)CGC>TGC	p.R245C	C3orf15_uc010hqy.1_Missense_Mutation_p.R245C|C3orf15_uc010hqz.2_Missense_Mutation_p.R183C|C3orf15_uc011bjd.1_Missense_Mutation_p.R119C|C3orf15_uc011bje.1_Missense_Mutation_p.R225C|C3orf15_uc010hra.1_Missense_Mutation_p.R6C	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	245						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)		AGAAAGAGCCCGCGAGAAGCG	0.542000												
GSK3B	2932	broad.mit.edu	37	3	119562108	119562108	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:119562108C>T	uc003edo.2	-	10	2172	c.1189G>A	c.(1189-1191)GCG>ACG	p.A397T	GSK3B_uc003edn.2_Missense_Mutation_p.A410T|GSK3B_uc003edm.2_Intron	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	397					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TTACCTGACGCTGCTGTGGCA	0.323000												
STXBP5L	9515	broad.mit.edu	37	3	121097669	121097669	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:121097669A>G	uc003eec.3	+	22	2495	c.2355A>G	c.(2353-2355)AGA>AGG	p.R785R	STXBP5L_uc011bji.1_Silent_p.R761R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	785					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GTCCTGGAAGACCACCATTTC	0.408000												
GOLGB1	2804	broad.mit.edu	37	3	121395738	121395738	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:121395738A>G	uc003eei.3	-	17	9288	c.9162_splice	c.e17+1	p.N3054_splice	GOLGB1_uc010hrc.2_Splice_Site_p.N3059_splice|GOLGB1_uc003eej.3_Splice_Site_p.N3020_splice	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,						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)		AGAAACACTTACGTTGCTGTT	0.403000												
GOLGB1	2804	broad.mit.edu	37	3	121413433	121413433	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:121413433C>T	uc003eei.3	-	13	6048	c.5922G>A	c.(5920-5922)CAG>CAA	p.Q1974Q	GOLGB1_uc010hrc.2_Silent_p.Q1979Q|GOLGB1_uc003eej.3_Silent_p.Q1940Q|GOLGB1_uc011bjm.1_Silent_p.Q1860Q|GOLGB1_uc010hrd.1_Silent_p.Q1938Q	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1974	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)		CCTTGACTAACTGCTGCTTTT	0.363000												
ADCY5	111	broad.mit.edu	37	3	123010074	123010074	+	Silent	SNP	C	C	T	rs111603078		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:123010074C>T	uc003egh.1	-	18	3213	c.3213G>A	c.(3211-3213)GCG>GCA	p.A1071A	ADCY5_uc003egg.1_Silent_p.A729A	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1071	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		CGAACATGACCGCCACACACT	0.592000												
MCM2	4171	broad.mit.edu	37	3	127335861	127335861	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:127335861C>T	uc003ejp.2	+	10	1730	c.1673C>T	c.(1672-1674)GCG>GTG	p.A558V	MCM2_uc011bkm.1_Missense_Mutation_p.A428V|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.A511V	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	558	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						GGCCTCACGGCGTATGTCCAG	0.592000												
ABTB1	80325	broad.mit.edu	37	3	127395216	127395216	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:127395216C>T	uc003ejt.2	+	5	510	c.422C>T	c.(421-423)GCC>GTC	p.A141V	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.A116V|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	141	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GCCTACTTTGCCAACATGCTG	0.572000												
PLXND1	23129	broad.mit.edu	37	3	129308232	129308232	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:129308232C>A	uc003emx.2	-	2	1550	c.1450G>T	c.(1450-1452)GCG>TCG	p.A484S		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	484	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						AGGAAGACCGCTGTGTAGTTG	0.682000												
PIK3R4	30849	broad.mit.edu	37	3	130425790	130425790	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:130425790A>G	uc003enj.2	-	11	3302	c.2721_splice	c.e11+1	p.Q907_splice		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4						fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						GTGACACAGTACCTGTGAAGA	0.458000												
TOPBP1	11073	broad.mit.edu	37	3	133358955	133358955	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:133358955T>C	uc003eps.2	-	13	2213	c.2081A>G	c.(2080-2082)CAT>CGT	p.H694R		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	694	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						CAGTATAAGATGAGTACTGGC	0.388000								Other_conserved_DNA_damage_response_genes				
NCK1	4690	broad.mit.edu	37	3	136664754	136664754	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:136664754C>T	uc003erh.2	+	3	663	c.556C>T	c.(556-558)CTA>TTA	p.L186L	NCK1_uc011bme.1_Silent_p.L122L	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	186					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1						CGTCAATAACCTAAATACTGG	0.423000												
FOXL2	668	broad.mit.edu	37	3	138665127	138665127	+	Silent	SNP	G	G	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:138665127G>C	uc003esw.2	-	1	856	c.438C>G	c.(436-438)CGC>CGG	p.R146R	uc003esv.1_5'Flank|C3orf72_uc003esx.1_5'Flank|C3orf72_uc011bmr.1_5'Flank	NM_023067	NP_075555	P58012	FOXL2_HUMAN	forkhead box L2	146	Fork-head.				convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			ovary(266)|large_intestine(1)|skin(1)	268						TCATGCGGCGGCGGCGCCGGT	0.577000			Mis		granulosa-cell tumour of the ovary		Blepharophimosis|ptosis and epicanthus inversus Types I|II; Premature ovarian failure type III					
ZBTB38	253461	broad.mit.edu	37	3	141162564	141162564	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:141162564C>A	uc003etw.2	+	8	2316	c.1334C>A	c.(1333-1335)CCA>CAA	p.P445Q	ZBTB38_uc010hun.2_Missense_Mutation_p.P442Q|ZBTB38_uc010huo.2_Missense_Mutation_p.P445Q|ZBTB38_uc003ety.2_Missense_Mutation_p.P445Q|ZBTB38_uc010hup.2_Missense_Mutation_p.P446Q	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	445					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						AGTACTTTGCCAGACACGGAC	0.413000												
ATR	545	broad.mit.edu	37	3	142243013	142243013	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:142243013C>T	uc003eux.3	-	22	4096	c.3974G>A	c.(3973-3975)AGT>AAT	p.S1325N		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	1325					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TACTGTTTCACTGTCTGTTGC	0.363000								Other_conserved_DNA_damage_response_genes				
TRPC1	7220	broad.mit.edu	37	3	142443573	142443573	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:142443573G>A	uc003evc.2	+	1	308	c.172G>A	c.(172-174)GGT>AGT	p.G58S	TRPC1_uc003evb.2_Missense_Mutation_p.G58S	NM_003304	NP_003295	P48995	TRPC1_HUMAN	transient receptor potential cation channel,	58	Cytoplasmic (Potential).|ANK 1.				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						GTGCGACAAGGGTGAGAGTTA	0.547000												
SR140	23350	broad.mit.edu	37	3	142773863	142773863	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:142773863G>A	uc003evh.1	+	27	2952	c.2853G>A	c.(2851-2853)TCG>TCA	p.S951S	SR140_uc003evi.1_Silent_p.S542S|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Silent_p.S950S	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	951	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding				0						CACCAAAATCGGAGCGATCAG	0.483000												
PLOD2	5352	broad.mit.edu	37	3	145822125	145822125	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:145822125G>T	uc003evs.1	-	6	1126	c.620C>A	c.(619-621)GCT>GAT	p.A207D	PLOD2_uc011bnm.1_Missense_Mutation_p.A152D|PLOD2_uc003evr.1_Missense_Mutation_p.A207D	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	207					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	GATGTTAATAGCTTCCTAAAA	0.303000												
HPS3	84343	broad.mit.edu	37	3	148859112	148859112	+	Silent	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:148859112C>G	uc003ewu.1	+	4	1055	c.915C>G	c.(913-915)GTC>GTG	p.V305V	HPS3_uc003ewt.1_Silent_p.V305V|HPS3_uc011bnq.1_Silent_p.V140V	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	305						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGTCCTATGTCTTGTCTGATG	0.428000									Hermansky-Pudlak_syndrome			
IGSF10	285313	broad.mit.edu	37	3	151163494	151163494	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:151163494G>A	uc011bod.1	-	4	4275	c.4275C>T	c.(4273-4275)GCC>GCT	p.A1425A		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1425					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTTGCTTGGGCTAGTTCTT	0.403000												
KCNAB1	7881	broad.mit.edu	37	3	156241698	156241698	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:156241698C>T	uc003far.2	+	12	1107	c.1043C>T	c.(1042-1044)GCG>GTG	p.A348V	KCNAB1_uc011bon.1_Missense_Mutation_p.A319V|KCNAB1_uc003fas.2_Missense_Mutation_p.A337V|KCNAB1_uc003fat.2_Missense_Mutation_p.A330V|KCNAB1_uc010hvt.1_Missense_Mutation_p.A301V|KCNAB1_uc011boo.1_Missense_Mutation_p.A224V	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related	348						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			ovary(3)|skin(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCCCAATTGCGGAGCGTCTG	0.433000												
SMC4	10051	broad.mit.edu	37	3	160132281	160132281	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:160132281A>C	uc003fdh.2	+	9	1361	c.1248A>C	c.(1246-1248)AAA>AAC	p.K416N	IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.K416N|SMC4_uc010hwc.1_Missense_Mutation_p.K180N|SMC4_uc003fdi.2_Missense_Mutation_p.K391N|SMC4_uc003fdj.2_Missense_Mutation_p.K416N|SMC4_uc010hwd.2_Missense_Mutation_p.K416N|SMC4_uc003fdl.2_Missense_Mutation_p.K119N	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	416	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACTGGAGAAACAACTTCAAA	0.318000												
MECOM	2122	broad.mit.edu	37	3	168838939	168838939	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:168838939C>T	uc003ffi.3	-	6	742	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	MECOM_uc010hwk.1_Missense_Mutation_p.R181Q|MECOM_uc003ffj.3_Missense_Mutation_p.R223Q|MECOM_uc011bpi.1_Missense_Mutation_p.R159Q|MECOM_uc003ffn.3_Missense_Mutation_p.R158Q|MECOM_uc003ffk.2_Missense_Mutation_p.R158Q|MECOM_uc003ffl.2_Missense_Mutation_p.R318Q|MECOM_uc011bpj.1_Missense_Mutation_p.R346Q|MECOM_uc011bpk.1_Missense_Mutation_p.R148Q|MECOM_uc010hwn.2_Missense_Mutation_p.R346Q	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	158	Interaction with MAPK9, SMAD3 and probably SUV39H1.				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						TGCATGGGCCCGGGCACCGAC	0.512000												
TNIK	23043	broad.mit.edu	37	3	170784061	170784061	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:170784061C>T	uc003fhh.2	-	32	4259	c.3914G>A	c.(3913-3915)CGG>CAG	p.R1305Q	TNIK_uc003fhi.2_Missense_Mutation_p.R1250Q|TNIK_uc003fhj.2_Missense_Mutation_p.R1276Q|TNIK_uc003fhk.2_Missense_Mutation_p.R1297Q|TNIK_uc003fhl.2_Missense_Mutation_p.R1221Q|TNIK_uc003fhm.2_Missense_Mutation_p.R1242Q|TNIK_uc003fhn.2_Missense_Mutation_p.R1268Q|TNIK_uc003fho.2_Missense_Mutation_p.R1213Q|TNIK_uc003fhg.2_Missense_Mutation_p.R483Q	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1305	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCCACTGACCGGATCTCAAT	0.388000												
MFN1	55669	broad.mit.edu	37	3	179095137	179095137	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:179095137A>G	uc003fjs.2	+	12	1356	c.1230A>G	c.(1228-1230)TCA>TCG	p.S410S	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.S438S|MFN1_uc010hxc.2_Silent_p.S263S	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	410	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTCAGGTTTCATGTGCAATGA	0.239000												
MCF2L2	23101	broad.mit.edu	37	3	182925470	182925470	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:182925470C>A	uc003fli.1	-	23	2728	c.2638G>T	c.(2638-2640)GTG>TTG	p.V880L		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	880	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTACAGAACACTATTCCCCTT	0.428000												
ABCC5	10057	broad.mit.edu	37	3	183660654	183660654	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:183660654A>G	uc003fmg.2	-	25	3720	c.3555T>C	c.(3553-3555)CCT>CCC	p.P1185P	ABCC5_uc011bqt.1_Silent_p.P713P|ABCC5_uc010hxl.2_Silent_p.P1142P	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1185						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGGGCCAGTCAGGGGAGGGAG	0.537000												
DVL3	1857	broad.mit.edu	37	3	183888273	183888273	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:183888273G>A	uc003fms.2	+	15	2021	c.1881G>A	c.(1879-1881)CCG>CCA	p.P627P	DVL3_uc011bqw.1_Silent_p.P610P|DVL3_uc003fmt.2_Silent_p.P298P|DVL3_uc003fmu.2_Silent_p.P459P	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	627					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCTCAGGGCCGGCGGCCAGCG	0.741000												
PSMD2	5708	broad.mit.edu	37	3	184020266	184020266	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:184020266G>A	uc003fnn.1	+	6	846	c.813G>A	c.(811-813)ATG>ATA	p.M271I	PSMD2_uc011brj.1_Missense_Mutation_p.M112I|PSMD2_uc011brk.1_Missense_Mutation_p.M141I	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	271					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGGCATTGATGCTCAATGACA	0.488000												
CLCN2	1181	broad.mit.edu	37	3	184072024	184072024	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:184072024G>A	uc003foi.2	-	15	1710	c.1586C>T	c.(1585-1587)GCC>GTC	p.A529V	CLCN2_uc003foh.2_Missense_Mutation_p.A53V|CLCN2_uc010hya.1_Missense_Mutation_p.A512V|CLCN2_uc011brl.1_Missense_Mutation_p.A529V|CLCN2_uc011brm.1_Missense_Mutation_p.A485V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	529						chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGATGTGGGCAATCTGGCC	0.597000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAJB11	51726	broad.mit.edu	37	3	186299253	186299253	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:186299253C>T	uc003fqi.2	+	5	770	c.550C>T	c.(550-552)CGC>TGC	p.R184C		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	184					protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		GGGCCCTGGGCGCTTCCAAAT	0.507000												
MUC4	4585	broad.mit.edu	37	3	195495938	195495938	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:195495938T>C	uc011bto.1	-	8	13560	c.13100A>G	c.(13099-13101)GAC>GGC	p.D4367G	MUC4_uc003fuz.2_Missense_Mutation_p.T123A|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_Missense_Mutation_p.T41A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.T41A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.D59G|MUC4_uc011bti.1_Missense_Mutation_p.D59G|MUC4_uc011btj.1_Missense_Mutation_p.D236G|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_Missense_Mutation_p.D4G|MUC4_uc011btm.1_Missense_Mutation_p.D184G|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Missense_Mutation_p.D259G|MUC4_uc003fvp.2_Missense_Mutation_p.D208G|MUC4_uc010hzu.1_Missense_Mutation_p.D1107G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1252	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGGCCACGTCCCACTGCAT	0.627000												
PAK2	5062	broad.mit.edu	37	3	196533500	196533500	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:196533500T>G	uc003fwy.3	+	6	841	c.519T>G	c.(517-519)GAT>GAG	p.D173E		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	173					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGGAGGAGGATGATGATGAAG	0.498000												
FGFRL1	53834	broad.mit.edu	37	4	1018191	1018191	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:1018191C>T	uc003gce.2	+	6	972	c.811C>T	c.(811-813)CGC>TGC	p.R271C	FGFRL1_uc003gcf.2_Missense_Mutation_p.R271C|FGFRL1_uc003gcg.2_Missense_Mutation_p.R271C|FGFRL1_uc010ibo.2_Missense_Mutation_p.R271C	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	271	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGCAAGGTGCGCAGCGACGT	0.657000												
HAUS3	79441	broad.mit.edu	37	4	2240395	2240395	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2240395G>T	uc003ges.1	-	3	1515	c.1285C>A	c.(1285-1287)CCA>ACA	p.P429T	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.P429T|HAUS3_uc003get.1_Missense_Mutation_p.P429T	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	429					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						GAAACTGATGGATCTGTTAAC	0.323000												
HAUS3	79441	broad.mit.edu	37	4	2240518	2240518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2240518G>A	uc003ges.1	-	3	1392	c.1162C>T	c.(1162-1164)CAG>TAG	p.Q388*	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Nonsense_Mutation_p.Q388*|HAUS3_uc003get.1_Nonsense_Mutation_p.Q388*	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	388					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4						TATGATAACTGTAGAAGTTCA	0.294000												
SH3BP2	6452	broad.mit.edu	37	4	2824766	2824766	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2824766T>C	uc003gfi.3	+	3	359	c.239_splice	c.e3+2	p.R80_splice	SH3BP2_uc010icn.2_Splice_Site_p.R80_splice|SH3BP2_uc011bvp.1_Splice_Site_p.R108_splice|SH3BP2_uc003gfj.3_Splice_Site_p.R137_splice|SH3BP2_uc003gfk.3_Splice_Site_p.R80_splice|SH3BP2_uc003gfl.3_Splice_Site	NM_001122681	NP_001116153	P78314	3BP2_HUMAN	SH3-domain binding protein 2 isoform a						signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTATAACCGGTAAGTGCCCGA	0.637000									Cherubism			
MFSD10	10227	broad.mit.edu	37	4	2933848	2933848	+	Silent	SNP	C	C	T	rs149717504		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:2933848C>T	uc003gfw.2	-	6	1040	c.726G>A	c.(724-726)GCG>GCA	p.A242A	MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Silent_p.A66A|MFSD10_uc003gfz.2_Silent_p.A242A|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Silent_p.A242A|MFSD10_uc003ggb.1_Silent_p.A242A|MFSD10_uc003ggc.2_Silent_p.A242A|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank	NM_001120	NP_001111	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing	242					apoptosis	integral to membrane	tetracycline transporter activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGATCAGCCGCATCACGGA	0.672000												
EVC2	132884	broad.mit.edu	37	4	5570350	5570350	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:5570350C>T	uc003gij.2	-	20	3432	c.3378G>A	c.(3376-3378)TCG>TCA	p.S1126S	EVC2_uc011bwb.1_Silent_p.S566S|EVC2_uc003gik.2_Silent_p.S1046S	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1126						integral to membrane				large_intestine(3)|ovary(2)	5						TCGCCAGGTACGATGCCAGTC	0.582000												
EVC2	132884	broad.mit.edu	37	4	5624286	5624286	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:5624286G>A	uc003gij.2	-	14	2533	c.2479C>T	c.(2479-2481)CGC>TGC	p.R827C	EVC2_uc011bwb.1_Missense_Mutation_p.R267C|EVC2_uc003gik.2_Missense_Mutation_p.R747C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	827						integral to membrane				large_intestine(3)|ovary(2)	5						TGCTCCCAGCGTCGCAGCTCT	0.453000												
TBC1D14	57533	broad.mit.edu	37	4	7011642	7011642	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:7011642C>T	uc011bwg.1	+	10	1564	c.1485C>T	c.(1483-1485)GGC>GGT	p.G495G	TBC1D14_uc003gjs.3_Silent_p.G495G|TBC1D14_uc010idh.2_Silent_p.G215G|TBC1D14_uc011bwh.1_Silent_p.G142G|TBC1D14_uc003gju.3_Intron	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	495	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2						GTATTTTGGGCGCTTATACTT	0.388000												
CCDC96	257236	broad.mit.edu	37	4	7043547	7043547	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:7043547G>A	uc003gjv.2	-	1	1182	c.1119C>T	c.(1117-1119)AGC>AGT	p.S373S	TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	373	Potential.										0						GCCGCACGGCGCTCATCTCCT	0.592000												
TADA2B	93624	broad.mit.edu	37	4	7056173	7056173	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:7056173C>T	uc003gjw.3	+	2	806	c.655C>T	c.(655-657)CGG>TGG	p.R219W	TADA2B_uc010idi.2_Missense_Mutation_p.R144W	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2 (ADA2 homolog,	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding				0						GAGACAGCGGCGGAAGAACAT	0.572000												
FBXL5	26234	broad.mit.edu	37	4	15628520	15628520	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:15628520T>A	uc003goc.1	-	8	1203	c.1100A>T	c.(1099-1101)GAC>GTC	p.D367V	FBXL5_uc010idw.1_Missense_Mutation_p.D280V|FBXL5_uc003gob.1_Missense_Mutation_p.D241V|FBXL5_uc010idx.1_Missense_Mutation_p.D366V|FBXL5_uc003god.1_Missense_Mutation_p.D350V|FBXL5_uc010idy.1_Missense_Mutation_p.D367V	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5 isoform	367	LRR 2.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity				0						ATCTGAAATGTCAGTCTGGGT	0.303000												
PCDH7	5099	broad.mit.edu	37	4	30921914	30921914	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:30921914C>T	uc011bxx.1	+	2	4322	c.3314C>T	c.(3313-3315)GCG>GTG	p.A1105V	PCDH7_uc011bxw.1_Missense_Mutation_p.A1058V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	Error:Variant_position_missing_in_O60245_after_alignment					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AGACTGGGTGCGCTTCCACTC	0.547000												
ARAP2	116984	broad.mit.edu	37	4	36115818	36115818	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:36115818A>G	uc003gsq.1	-	26	4468	c.4130T>C	c.(4129-4131)TTT>TCT	p.F1377S		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	1377	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						AATGACTTCAAATGTGGCCCA	0.299000												
YIPF7	285525	broad.mit.edu	37	4	44626737	44626737	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:44626737A>G	uc010ifx.1	-	5	578	c.561T>C	c.(559-561)CAT>CAC	p.H187H		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	187	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0						TCAGCAAGGCATGAATCACAA	0.512000												
FRYL	285527	broad.mit.edu	37	4	48567646	48567646	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:48567646T>C	uc003gyh.1	-	29	3837	c.3232A>G	c.(3232-3234)AGT>GGT	p.S1078G	FRYL_uc003gyk.2_Missense_Mutation_p.S1078G|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						GCCCAGTGACTGAACAGCATA	0.368000												
LRRC66	339977	broad.mit.edu	37	4	52861931	52861931	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:52861931C>T	uc003gzi.2	-	4	1270	c.1257G>A	c.(1255-1257)GCG>GCA	p.A419A		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	419						integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						CGTTTGAATACGCGTTGTCCA	0.537000												
PDGFRA	5156	broad.mit.edu	37	4	55156584	55156584	+	Silent	SNP	C	C	T	rs138801854		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:55156584C>T	uc003han.3	+	22	3316	c.2985C>T	c.(2983-2985)AAC>AAT	p.N995N	PDGFRA_uc003haa.2_Silent_p.N755N	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	995	Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCTACAAAAACGAGGAAGACA	0.512000			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)		
UGT2B10	7365	broad.mit.edu	37	4	69874590	69874590	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:69874590A>G	uc011cao.1	-	8	1317	c.1181T>C	c.(1180-1182)GTA>GCA	p.V394A	UGT2B10_uc011can.1_Missense_Mutation_p.V310A			P36537	UDB10_HUMAN	RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;	431					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						ATCATTAATTACTGTCTTCAG	0.368000												
ANKRD17	26057	broad.mit.edu	37	4	73956980	73956980	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:73956980G>T	uc003hgp.2	-	29	6482	c.6365C>A	c.(6364-6366)CCT>CAT	p.P2122H	ANKRD17_uc003hgo.2_Missense_Mutation_p.P2009H|ANKRD17_uc003hgq.2_Missense_Mutation_p.P1871H|ANKRD17_uc003hgr.2_Missense_Mutation_p.P2121H	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	2122					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)			CTGCTGAAGAGGTGGTCTTGG	0.512000												
STBD1	8987	broad.mit.edu	37	4	77230676	77230676	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:77230676C>T	uc003hka.2	+	2	846	c.600C>T	c.(598-600)CAC>CAT	p.H200H	STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.H51H	NM_003943	NP_003934	O95210	STBD1_HUMAN	starch binding domain 1	200	Cytoplasmic (Potential).				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding			ovary(1)	1			Lung(101;0.196)			GGGTTGACCACGAGGAGTGGG	0.498000												
FRAS1	80144	broad.mit.edu	37	4	79295337	79295337	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:79295337T>C	uc003hlb.2	+	25	3523	c.3083T>C	c.(3082-3084)TTG>TCG	p.L1028S	FRAS1_uc003hkw.2_Missense_Mutation_p.L1028S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1027	FU 13.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TTTCTCCTCTTGGAAGCCCAG	0.493000												
PLAC8	51316	broad.mit.edu	37	4	84028970	84028970	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:84028970G>A	uc003hoe.2	-	2	266	c.105C>T	c.(103-105)AGC>AGT	p.S35S	PLAC8_uc011cco.1_Silent_p.S35S|PLAC8_uc010ijy.2_Intron|PLAC8_uc010ijz.2_Intron|PLAC8_uc003hod.2_Silent_p.S35S	NM_001130716	NP_001124188	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	35										ovary(1)	1		Hepatocellular(203;0.114)				CTCCGCAGTCGCTGAAACAGT	0.557000												
PTPN13	5783	broad.mit.edu	37	4	87684104	87684104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:87684104C>T	uc003hpz.2	+	24	4258	c.3778C>T	c.(3778-3780)CAG>TAG	p.Q1260*	PTPN13_uc003hpy.2_Nonsense_Mutation_p.Q1260*|PTPN13_uc003hqa.2_Nonsense_Mutation_p.Q1241*|PTPN13_uc003hqb.2_Nonsense_Mutation_p.Q1069*	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1260						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GTCTCAAAGCCAGGTCAATGG	0.537000												
HERC6	55008	broad.mit.edu	37	4	89326076	89326076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:89326076C>T	uc011cdi.1	+	9	1324	c.1141C>T	c.(1141-1143)CGA>TGA	p.R381*	HERC6_uc011cdj.1_Nonsense_Mutation_p.R381*|HERC6_uc011cdk.1_Intron|HERC6_uc011cdl.1_Intron	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	381					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAAATAAGCCGAATTAGCCA	0.438000												
HERC3	8916	broad.mit.edu	37	4	89588627	89588627	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:89588627G>T	uc003hrw.1	+	13	1597	c.1431G>T	c.(1429-1431)ATG>ATT	p.M477I	HERC3_uc011cdn.1_Missense_Mutation_p.M359I|HERC3_uc011cdo.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	477					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AGCACTCCATGATTCTAGAAC	0.333000												
MMRN1	22915	broad.mit.edu	37	4	90830508	90830508	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:90830508A>C	uc003hst.2	+	2	776	c.705A>C	c.(703-705)AAA>AAC	p.K235N	MMRN1_uc010iku.2_Missense_Mutation_p.K201N|MMRN1_uc011cds.1_5'UTR	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	235	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGGTGGGAAAGGACCTTGTG	0.423000												
TMSL3	7117	broad.mit.edu	37	4	91760120	91760120	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:91760120C>T	uc003hsy.2	-	1	150	c.69G>A	c.(67-69)ACG>ACA	p.T23T	FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	NM_183049	NP_898870			thymosin-like 3												0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)		TTTTCTCTTGCGTCTCTGTCT	0.507000												
RAP1GDS1	5910	broad.mit.edu	37	4	99300202	99300202	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:99300202T>C	uc003htx.3	+	5	586	c.396T>C	c.(394-396)GGT>GGC	p.G132G	RAP1GDS1_uc003htu.2_Silent_p.G132G|RAP1GDS1_uc003htw.3_Silent_p.G133G|RAP1GDS1_uc003htv.3_Silent_p.G133G|RAP1GDS1_uc003htz.3_Intron|RAP1GDS1_uc003hty.3_Intron|RAP1GDS1_uc003hua.3_Intron	NM_001100427	NP_001093897	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1 isoform	132							binding|GTPase activator activity			ovary(1)|lung(1)|breast(1)	3				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		AAGCAGGTGGTGCACAGATTG	0.368000			T	NUP98	T-ALL							
SLC39A8	64116	broad.mit.edu	37	4	103228707	103228707	+	Silent	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:103228707T>A	uc003hwb.1	-	3	967	c.438A>T	c.(436-438)GGA>GGT	p.G146G	SLC39A8_uc011ceo.1_Silent_p.G146G|SLC39A8_uc003hwa.1_Silent_p.G79G|SLC39A8_uc003hwc.2_Silent_p.G146G	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	146	Helical; (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TCAAAATCAATCCGAGGAGAG	0.398000												
GSTCD	79807	broad.mit.edu	37	4	106744429	106744429	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:106744429T>A	uc003hxz.3	+	7	1470	c.1398T>A	c.(1396-1398)TGT>TGA	p.C466*	GSTCD_uc003hxx.2_3'UTR|GSTCD_uc003hxy.3_Nonsense_Mutation_p.C379*|GSTCD_uc011cfb.1_Nonsense_Mutation_p.C89*	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain	466						cytoplasm	rRNA methyltransferase activity			breast(1)|central_nervous_system(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TGCCATCATGTCAGGTAAAGC	0.398000												
COL25A1	84570	broad.mit.edu	37	4	109861694	109861694	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:109861694C>T	uc003hze.1	-	9	1203	c.672_splice	c.e9+1	p.P224_splice	COL25A1_uc003hzg.2_Splice_Site_p.P224_splice|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Splice_Site_p.P5_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1							collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AAGCGACTCACGGGTACTCCT	0.473000												
SEC24B	10427	broad.mit.edu	37	4	110452568	110452568	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110452568C>T	uc003hzk.2	+	20	3335	c.3280C>T	c.(3280-3282)CGG>TGG	p.R1094W	SEC24B_uc003hzl.2_Missense_Mutation_p.R1059W|SEC24B_uc011cfp.1_Missense_Mutation_p.R1124W|SEC24B_uc011cfq.1_Missense_Mutation_p.R1093W|SEC24B_uc011cfr.1_Missense_Mutation_p.R1058W	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	1094					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TACAAGCACACGGCTGGATGA	0.343000												
EGF	1950	broad.mit.edu	37	4	110908975	110908975	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110908975A>G	uc003hzy.3	+	17	3019	c.2567A>G	c.(2566-2568)CAG>CGG	p.Q856R	EGF_uc011cfu.1_Missense_Mutation_p.Q814R|EGF_uc011cfv.1_Missense_Mutation_p.Q856R|EGF_uc010imk.2_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	856	EGF-like 6.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GCCACATGTCAGTGTTTGAAA	0.423000												
ENPEP	2028	broad.mit.edu	37	4	111397807	111397807	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:111397807G>A	uc003iab.3	+	1	579	c.237G>A	c.(235-237)CCG>CCA	p.P79P		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	79	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACATCTGCCCGGCCAGTGAGG	0.657000												
ENPEP	2028	broad.mit.edu	37	4	111464190	111464190	+	Missense_Mutation	SNP	G	G	A	rs142728357	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:111464190G>A	uc003iab.3	+	13	2306	c.1964G>A	c.(1963-1965)CGT>CAT	p.R655H		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	655	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCAGATCGTGCAAGTCTT	0.328000												
PITX2	5308	broad.mit.edu	37	4	111539810	111539810	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:111539810T>C	uc003iad.2	-	5	1007	c.425A>G	c.(424-426)AAG>AGG	p.K142R	PITX2_uc003iac.2_Missense_Mutation_p.K149R|PITX2_uc003iae.2_Missense_Mutation_p.K96R|PITX2_uc010iml.2_Missense_Mutation_p.K13R|PITX2_uc003iaf.2_Missense_Mutation_p.K142R	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	142	Homeobox.				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGCTCCCTCTTTCTCCATTT	0.557000												
METTL14	57721	broad.mit.edu	37	4	119631419	119631419	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:119631419C>T	uc003icf.2	+	11	1449	c.1333C>T	c.(1333-1335)CGT>TGT	p.R445C	METTL14_uc003icg.2_Missense_Mutation_p.R407C	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	445	Gly-rich.					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0						TAGAGGGGGCCGTGGAGGAGC	0.468000												
SYNPO2	171024	broad.mit.edu	37	4	119951742	119951742	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:119951742G>A	uc003icm.3	+	4	2008	c.1812G>A	c.(1810-1812)TCG>TCA	p.S604S	SYNPO2_uc010ina.2_Silent_p.S604S|SYNPO2_uc010inb.2_Silent_p.S604S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.S532S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN	synaptopodin 2 isoform b	604	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			ovary(2)	2						CCCCCTTCTCGCCAACCCGAA	0.557000												
FAT4	79633	broad.mit.edu	37	4	126241907	126241907	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:126241907T>C	uc003ifj.3	+	1	4341	c.4341T>C	c.(4339-4341)CCT>CCC	p.P1447P		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1447	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CACATGACCCTGATGCAGACA	0.403000												
PCDH10	57575	broad.mit.edu	37	4	134072933	134072933	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:134072933G>A	uc003iha.2	+	1	2464	c.1638G>A	c.(1636-1638)CGG>CGA	p.R546R	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R546R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	546	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGAAGCCCGGGACGCTGGCA	0.567000												
HHIP	64399	broad.mit.edu	37	4	145636526	145636526	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:145636526G>T	uc003ijs.1	+	10	2277	c.1622G>T	c.(1621-1623)GGG>GTG	p.G541V		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	541						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428000												
GUCY1B3	2983	broad.mit.edu	37	4	156717621	156717621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:156717621C>A	uc003ipc.2	+	8	1103	c.936C>A	c.(934-936)TAC>TAA	p.Y312*	GUCY1B3_uc011cio.1_Nonsense_Mutation_p.Y334*|GUCY1B3_uc011cip.1_Nonsense_Mutation_p.Y292*|GUCY1B3_uc003ipd.2_Nonsense_Mutation_p.Y240*|GUCY1B3_uc010iqf.2_Nonsense_Mutation_p.Y312*|GUCY1B3_uc010iqg.2_Nonsense_Mutation_p.Y240*|GUCY1B3_uc011ciq.1_Nonsense_Mutation_p.Y240*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	312					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAATGATCTACTTACCTGAAG	0.373000												
GRIA2	2891	broad.mit.edu	37	4	158233830	158233830	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:158233830G>T	uc003ipm.3	+	4	929	c.470_splice	c.e4-1	p.G157_splice	GRIA2_uc011cit.1_Splice_Site_p.G110_splice|GRIA2_uc003ipl.3_Splice_Site_p.G157_splice|GRIA2_uc003ipk.3_Splice_Site_p.G110_splice|GRIA2_uc010iqh.1_Splice_Site	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGCCTTCCTAGGCTTATCAAC	0.353000												
RAPGEF2	9693	broad.mit.edu	37	4	160268152	160268152	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:160268152T>C	uc003iqg.3	+	19	3539	c.3229_splice	c.e19+2	p.G1077_splice		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2						cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CACCTTTTGGTAAGTGATTAC	0.398000												
ODZ3	55714	broad.mit.edu	37	4	183721137	183721137	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:183721137C>T	uc003ivd.1	+	27	7770	c.7733C>T	c.(7732-7734)ACG>ATG	p.T2578M		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2578	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATCAACGTGACGGTGTCGCAG	0.667000												
WWC2	80014	broad.mit.edu	37	4	184182199	184182199	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:184182199A>C	uc010irx.2	+	11	1605	c.1423A>C	c.(1423-1425)AGT>CGT	p.S475R	WWC2_uc003ivk.3_Missense_Mutation_p.S270R|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.S157R|WWC2_uc003ivn.3_Missense_Mutation_p.S39R	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	475	Ser-rich.									ovary(2)|lung(1)	3		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGCAGTCAAAGTGATCAGAT	0.493000												
FAT1	2195	broad.mit.edu	37	4	187539004	187539004	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:187539004G>A	uc003izf.2	-	10	8924	c.8736C>T	c.(8734-8736)AAC>AAT	p.N2912N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2912	Extracellular (Potential).|Cadherin 26.				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						GTGGACTATCGTTGACATCGG	0.488000										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187630248	187630248	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:187630248A>G	uc003izf.2	-	2	922	c.734T>C	c.(733-735)GTG>GCG	p.V245A	FAT1_uc010iso.1_Missense_Mutation_p.V245A	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	245	Extracellular (Potential).|Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTCGATGTGCACCGTTAGCTT	0.517000										HNSCC(5;0.00058)		
CEP72	55722	broad.mit.edu	37	5	637785	637785	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:637785G>A	uc003jbf.2	+	7	1130	c.1058G>A	c.(1057-1059)TGC>TAC	p.C353Y	CEP72_uc011clz.1_RNA	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	centrosomal protein 72 kDa	353					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				ovary(1)	1			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGTTTGGGCTGCCCGGAGAGA	0.602000												
IRX1	79192	broad.mit.edu	37	5	3599615	3599615	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:3599615C>T	uc003jde.2	+	2	605	c.553C>T	c.(553-555)CTC>TTC	p.L185F		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	185	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GCGCCGGCGCCTCAAGAAGGA	0.632000												
KIAA0947	23379	broad.mit.edu	37	5	5464737	5464737	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:5464737C>A	uc003jdm.3	+	13	5512	c.5290C>A	c.(5290-5292)CGG>AGG	p.R1764R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	1764										ovary(1)|central_nervous_system(1)	2						TGCCAGGGCCCGGACCCTCAA	0.527000												
PAPD7	11044	broad.mit.edu	37	5	6746403	6746403	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:6746403G>T	uc003jdx.1	+	7	701	c.572G>T	c.(571-573)GGG>GTG	p.G191V	PAPD7_uc011cmn.1_Missense_Mutation_p.G182V|PAPD7_uc010itl.1_Missense_Mutation_p.G11V	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	191	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1						GAACTCTATGGGAGAAATTTT	0.408000											OREG0016494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRIO	7204	broad.mit.edu	37	5	14504592	14504592	+	Silent	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:14504592C>G	uc003jff.2	+	55	8508	c.8502C>G	c.(8500-8502)CGC>CGG	p.R2834R	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2834	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					TGATGAAGCGCGACCAGGTCA	0.532000												
FBXL7	23194	broad.mit.edu	37	5	15937067	15937067	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:15937067C>T	uc003jfn.1	+	4	1729	c.1248C>T	c.(1246-1248)TCC>TCT	p.S416S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	416	LRR 10.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CTTTGGTATCCGACACGGGCC	0.607000												
CDH12	1010	broad.mit.edu	37	5	21751879	21751879	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:21751879T>G	uc010iuc.2	-	12	2810	c.2352A>C	c.(2350-2352)GAA>GAC	p.E784D	CDH12_uc011cno.1_Missense_Mutation_p.E744D|CDH12_uc003jgk.2_Missense_Mutation_p.E784D|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	784	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						AACTCTCTTCTTCGCCAAACA	0.433000										HNSCC(59;0.17)		
ADAMTS12	81792	broad.mit.edu	37	5	33576779	33576779	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:33576779C>A	uc003jia.1	-	19	3515	c.3352G>T	c.(3352-3354)GGC>TGC	p.G1118C	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1033C	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1118	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GCTACAAGGCCTCCCTCCGAG	0.498000										HNSCC(64;0.19)		
C5orf42	65250	broad.mit.edu	37	5	37115140	37115140	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:37115140A>C	uc011cpa.1	-	50	9391	c.9160T>G	c.(9160-9162)TTC>GTC	p.F3054V	C5orf42_uc003jko.1_Missense_Mutation_p.F85V|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.F1572V|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.F2147V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	hypothetical protein LOC65250	3054										ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGTATGGTGAAAGTGGCAGTT	0.328000												
MAP3K1	4214	broad.mit.edu	37	5	56177588	56177588	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:56177588G>A	uc003jqw.3	+	14	3062	c.2561G>A	c.(2560-2562)CGC>CAC	p.R854H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	854					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGGATGCGTCGCCGTTTGATG	0.473000												
FOXD1	2297	broad.mit.edu	37	5	72743584	72743584	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:72743584C>A	uc003kcp.2	-	1	769	c.604G>T	c.(604-606)GAC>TAC	p.D202Y		NM_004472	NP_004463	Q16676	FOXD1_HUMAN	forkhead box D1	202	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		GACTCCGGGTCCAGCGTCCAG	0.542000												
SV2C	22987	broad.mit.edu	37	5	75594678	75594678	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:75594678C>T	uc003kei.1	+	10	1696	c.1562C>T	c.(1561-1563)ACC>ATC	p.T521I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	521	Extracellular (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AAGTCCTGCACCTTTGAGGAT	0.388000												
S100Z	170591	broad.mit.edu	37	5	76171297	76171297	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:76171297T>C	uc003kep.1	+	3	443	c.113T>C	c.(112-114)CTG>CCG	p.L38P	S100Z_uc003keq.3_Missense_Mutation_p.L38P	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	38	EF-hand 1.						calcium ion binding			ovary(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AAACTGCTCCTGCAGCGAGAG	0.502000												
PDE8B	8622	broad.mit.edu	37	5	76709128	76709128	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:76709128A>G	uc003kfa.2	+	17	1950	c.1905A>G	c.(1903-1905)AGA>AGG	p.R635R	PDE8B_uc003kfb.2_Silent_p.R615R|PDE8B_uc003kfc.2_Silent_p.R580R|PDE8B_uc003kfd.2_Silent_p.R588R|PDE8B_uc003kfe.2_Silent_p.R538R	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	635	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GAAAGGAAAGAGTAAAGGTAG	0.443000												
CMYA5	202333	broad.mit.edu	37	5	79028254	79028254	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:79028254G>T	uc003kgc.2	+	2	3738	c.3666G>T	c.(3664-3666)CAG>CAT	p.Q1222H		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1222						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTATCACAGGATCAAAAAA	0.428000												
ZFYVE16	9765	broad.mit.edu	37	5	79734457	79734457	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:79734457A>G	uc003kgr.3	+	4	2255	c.1953A>G	c.(1951-1953)CAA>CAG	p.Q651Q	ZFYVE16_uc010jak.1_Silent_p.Q651Q|ZFYVE16_uc003kgp.2_Silent_p.Q651Q|ZFYVE16_uc003kgq.3_Silent_p.Q651Q|ZFYVE16_uc003kgs.3_Silent_p.Q651Q	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	651					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GACCTAAGCAATTGTTTAGCC	0.423000												
VCAN	1462	broad.mit.edu	37	5	82815503	82815503	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:82815503C>T	uc003kii.3	+	7	1734	c.1378C>T	c.(1378-1380)CTC>TTC	p.L460F	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.L460F|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	460	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAAGAAGTGCTCCAGAGTAC	0.438000												
GPR98	84059	broad.mit.edu	37	5	90087050	90087050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:90087050C>T	uc003kju.2	+	70	14500	c.14404C>T	c.(14404-14406)CGA>TGA	p.R4802*	GPR98_uc003kjt.2_Nonsense_Mutation_p.R2508*|GPR98_uc003kjw.2_Nonsense_Mutation_p.R463*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4802	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTGGGCTTCGAATATCATC	0.463000												
GPR98	84059	broad.mit.edu	37	5	90106235	90106235	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:90106235A>G	uc003kju.2	+	74	15254	c.15158A>G	c.(15157-15159)GAA>GGA	p.E5053G	GPR98_uc003kjt.2_Missense_Mutation_p.E2759G|GPR98_uc003kjw.2_Missense_Mutation_p.E714G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5053	Calx-beta 33.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGCCACTGGAAGATTTTGAG	0.373000												
MCTP1	79772	broad.mit.edu	37	5	94253672	94253672	+	Missense_Mutation	SNP	C	C	T	rs145487587		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:94253672C>T	uc003kkx.2	-	8	1279	c.1279G>A	c.(1279-1281)GGC>AGC	p.G427S	MCTP1_uc003kkv.2_Missense_Mutation_p.G206S|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Missense_Mutation_p.G88S|MCTP1_uc003kku.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	427					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GCTGGCCTGCCGCACGTCTGG	0.433000												
ARSK	153642	broad.mit.edu	37	5	94901771	94901771	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:94901771C>T	uc003kld.2	+	2	354	c.196C>T	c.(196-198)CGT>TGT	p.R66C	ARSK_uc010jbg.2_Translation_Start_Site|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	66						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TATGAAGACACGTGGGACTTC	0.388000												
SPATA9	83890	broad.mit.edu	37	5	95011302	95011302	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:95011302A>G	uc003klj.1	-	3	348	c.192T>C	c.(190-192)GCT>GCC	p.A64A	SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	64					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane					0		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTAAAGCAATAGCCATCCTGA	0.383000												
SLCO6A1	133482	broad.mit.edu	37	5	101834487	101834487	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:101834487G>A	uc003knn.2	-	1	234	c.62C>T	c.(61-63)CCG>CTG	p.P21L	SLCO6A1_uc003kno.2_Missense_Mutation_p.P21L|SLCO6A1_uc003knp.2_Missense_Mutation_p.P21L|SLCO6A1_uc003knq.2_Missense_Mutation_p.P21L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	21	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGCCTCCAGCGGCTCTACTCC	0.657000												
PPIP5K2	23262	broad.mit.edu	37	5	102465389	102465389	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:102465389T>C	uc003kod.3	+	2	615	c.96T>C	c.(94-96)GAT>GAC	p.D32D	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.D32D|PPIP5K2_uc010jbo.1_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	32					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						ATGAAGACGATGAGGAGGAAG	0.373000												
FER	2241	broad.mit.edu	37	5	108295005	108295005	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:108295005T>C	uc003kop.1	+	13	1997	c.1613T>C	c.(1612-1614)ATC>ACC	p.I538T	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Missense_Mutation_p.I363T	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	538	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAACAGGTCATCACTAAGAAA	0.353000												
KCNN2	3781	broad.mit.edu	37	5	113698500	113698500	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:113698500G>A	uc003kqo.2	+	1	485	c.28G>A	c.(28-30)GTC>ATC	p.V10I		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	10						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CAACGGGGGCGTCATGCGGCC	0.562000												
FEM1C	56929	broad.mit.edu	37	5	114878823	114878823	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:114878823G>A	uc003krb.1	-	2	930	c.368C>T	c.(367-369)GCG>GTG	p.A123V		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	123	ANK 4.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		ATCGAAACACGCAGCTCGAAG	0.448000												
AQPEP	206338	broad.mit.edu	37	5	115323514	115323514	+	Missense_Mutation	SNP	G	G	A	rs142239251		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:115323514G>A	uc003kro.2	+	4	1147	c.983G>A	c.(982-984)CGC>CAC	p.R328H	AQPEP_uc003krp.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	328	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						ATTTAGATACGCATCTGGGCC	0.418000												
FTMT	94033	broad.mit.edu	37	5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:121187725C>T	uc003kss.2	+	1	76	c.67C>T	c.(67-69)CGC>TGC	p.R23C		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	23					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731000												
FBN2	2201	broad.mit.edu	37	5	127597503	127597503	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:127597503G>A	uc003kuu.2	-	64	8728	c.8289C>T	c.(8287-8289)TAC>TAT	p.Y2763Y		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2763					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTTGCACTCGTAGCATGCTT	0.473000												
SHROOM1	134549	broad.mit.edu	37	5	132160980	132160980	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:132160980T>C	uc003kxx.2	-	4	1658	c.853A>G	c.(853-855)ATG>GTG	p.M285V	SHROOM1_uc003kxy.1_Missense_Mutation_p.M285V	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	shroom family member 1	285					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			pancreas(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCAGGTTCATGGAGCCTTGG	0.637000												
TCF7	6932	broad.mit.edu	37	5	133481935	133481935	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:133481935G>A	uc003kyt.2	+	10	1292	c.1096G>A	c.(1096-1098)GGT>AGT	p.G366S	TCF7_uc003kyv.2_3'UTR|TCF7_uc003kyw.2_Missense_Mutation_p.G251S|TCF7_uc003kyx.2_Missense_Mutation_p.G164S|TCF7_uc003kyy.2_Missense_Mutation_p.G251S|TCF7_uc003kyz.2_Missense_Mutation_p.R275Q|TCF7_uc003kza.2_3'UTR|TCF7_uc003kzb.2_Missense_Mutation_p.G180S|TCF7_uc010jdu.2_RNA	NM_003202	NP_003193	P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific,	Error:Variant_position_missing_in_P36402_after_alignment					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding				0		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAATGCATTCGGTACTTACCC	0.522000											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PHF15	23338	broad.mit.edu	37	5	133871564	133871564	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:133871564G>A	uc003kzo.1	+	2	196	c.17G>A	c.(16-18)CGA>CAA	p.R6Q	PHF15_uc011cxt.1_Missense_Mutation_p.R6Q|PHF15_uc003kzk.2_Missense_Mutation_p.R22Q|PHF15_uc003kzl.2_Missense_Mutation_p.R6Q|PHF15_uc003kzm.2_Missense_Mutation_p.R6Q|PHF15_uc003kzn.2_Missense_Mutation_p.R6Q	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	6					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGAAGAGGCGAAAATACTCC	0.488000												
C5orf24	134553	broad.mit.edu	37	5	134190673	134190673	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:134190673C>T	uc003kzx.2	+	2	144	c.83C>T	c.(82-84)GCT>GTT	p.A28V	C5orf24_uc003kzy.3_Missense_Mutation_p.A28V|C5orf24_uc003kzz.2_Missense_Mutation_p.A28V	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	hypothetical protein LOC134553	28											0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCATGAGAGCTGCTGATCAG	0.443000												
CATSPER3	347732	broad.mit.edu	37	5	134343728	134343728	+	Missense_Mutation	SNP	G	G	A	rs145171708		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:134343728G>A	uc003lag.2	+	4	642	c.574G>A	c.(574-576)GCT>ACT	p.A192T		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	192	Helical; Name=Segment S5; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTACATCTTCGCTATCTTGGG	0.562000												
CXCL14	9547	broad.mit.edu	37	5	134910282	134910282	+	Silent	SNP	G	G	A	rs150851659		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:134910282G>A	uc003lay.2	-	3	765	c.300C>T	c.(298-300)AAC>AAT	p.N100N		NM_004887	NP_004878	O95715	CXL14_HUMAN	small inducible cytokine B14 precursor	100					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTTCCAGGCGTTGTACCACT	0.512000												
SPOCK1	6695	broad.mit.edu	37	5	136403466	136403466	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:136403466C>T	uc003lbo.2	-	5	718	c.527G>A	c.(526-528)TGT>TAT	p.C176Y	SPOCK1_uc003lbp.2_Missense_Mutation_p.C176Y	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	176	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCCATCACAGAGGGTGGC	0.522000												
NRG2	9542	broad.mit.edu	37	5	139260471	139260471	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139260471T>C	uc003lex.1	-	3	1186	c.961A>G	c.(961-963)ACC>GCC	p.T321A	NRG2_uc003lev.1_Missense_Mutation_p.T321A|NRG2_uc003lew.1_Missense_Mutation_p.T321A|NRG2_uc003ley.1_Missense_Mutation_p.T321A	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	321	Ig-like C2-type.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCGGACGGTGTCCTTCCCC	0.627000												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139864752	139864752	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139864752G>A	uc003lfs.1	+	12	2041	c.1917G>A	c.(1915-1917)GTG>GTA	p.V639V	ANKHD1_uc003lfq.1_Silent_p.V658V|ANKHD1_uc003lfr.2_Silent_p.V639V|ANKHD1_uc003lft.1_Silent_p.V119V|ANKHD1_uc003lfu.1_Silent_p.V119V|ANKHD1_uc003lfv.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	639						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACAGTAGTGTCGCTGGCAT	0.443000												
APBB3	10307	broad.mit.edu	37	5	139941182	139941182	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139941182A>C	uc003lgd.1	-	7	1111	c.752T>G	c.(751-753)CTT>CGT	p.L251R	APBB3_uc003lgb.1_Missense_Mutation_p.L23R|APBB3_uc003lgc.1_Missense_Mutation_p.L23R|APBB3_uc003lge.1_Missense_Mutation_p.L244R|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.L23R|APBB3_uc010jfq.1_Missense_Mutation_p.L23R	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	246	PID 1.					actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGCACAAAGCCCATGTAG	0.532000												
PCDHA1	56147	broad.mit.edu	37	5	140167265	140167265	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140167265G>A	uc003lhb.2	+	1	1390	c.1390G>A	c.(1390-1392)GTG>ATG	p.V464M	PCDHA1_uc003lha.2_Missense_Mutation_p.V464M|PCDHA1_uc003lgz.2_Missense_Mutation_p.V464M	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	464	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGTATTCGTGAAGGAGAA	0.662000												
PCDHA1	56147	broad.mit.edu	37	5	140167382	140167382	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140167382G>A	uc003lhb.2	+	1	1507	c.1507G>A	c.(1507-1509)GCG>ACG	p.A503T	PCDHA1_uc003lha.2_Missense_Mutation_p.A503T|PCDHA1_uc003lgz.2_Missense_Mutation_p.A503T	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	503	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCGCGCTGTCGAA	0.677000												
PCDHA5	56143	broad.mit.edu	37	5	140201490	140201490	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140201490G>A	uc003lhl.2	+	1	130	c.130G>A	c.(130-132)GTT>ATT	p.V44I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.V44I|PCDHA5_uc003lhj.1_Missense_Mutation_p.V44I	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	44	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAACCTTCGTTGGCCGCAT	0.662000												
PCDHA5	56143	broad.mit.edu	37	5	140202694	140202694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140202694C>T	uc003lhl.2	+	1	1334	c.1334C>T	c.(1333-1335)GCC>GTC	p.A445V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.A445V|PCDHA5_uc003lhj.1_Missense_Mutation_p.A445V	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	445	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAGTGGCCGACGTGAAC	0.657000												
PCDHA6	56142	broad.mit.edu	37	5	140208963	140208963	+	Silent	SNP	C	C	T	rs142490526		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140208963C>T	uc003lho.2	+	1	1314	c.1287C>T	c.(1285-1287)GAC>GAT	p.D429D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.D429D|PCDHA6_uc011dab.1_Silent_p.D429D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	429	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGCGGGACGGGGGCTCGC	0.622000												
PCDHA8	56140	broad.mit.edu	37	5	140222198	140222198	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140222198G>A	uc003lhs.2	+	1	1292	c.1292G>A	c.(1291-1293)GGC>GAC	p.G431D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.G431D	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	431	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGGGGGCTCGCCTTCG	0.637000												
PCDHA9	9752	broad.mit.edu	37	5	140230226	140230226	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140230226C>T	uc003lhu.2	+	1	2870	c.2146C>T	c.(2146-2148)CTG>TTG	p.L716L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.L716L	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	716	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCACGCTGCTGCTGTACAC	0.652000												
PCDHA11	56138	broad.mit.edu	37	5	140249805	140249805	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140249805G>A	uc003lia.2	+	1	1975	c.1117G>A	c.(1117-1119)GTG>ATG	p.V373M	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V373M	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	373	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCAGCGTGTCTGACCG	0.567000												
PCDHA11	56138	broad.mit.edu	37	5	140250611	140250611	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140250611G>A	uc003lia.2	+	1	2781	c.1923G>A	c.(1921-1923)TCG>TCA	p.S641S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.S641S	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11 isoform 1 precursor	641	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAGACTCGCCGCGCCACC	0.682000												
PCDHA12	56137	broad.mit.edu	37	5	140257063	140257063	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140257063T>C	uc003lic.2	+	1	2133	c.2006T>C	c.(2005-2007)CTG>CCG	p.L669P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L669P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	669	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTCGCTGGTGGAGAAC	0.662000												
PCDHA13	56136	broad.mit.edu	37	5	140263628	140263628	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140263628C>T	uc003lif.2	+	1	1775	c.1775C>T	c.(1774-1776)GCG>GTG	p.A592V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A592V|PCDHA13_uc003lid.2_Missense_Mutation_p.A592V	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	592	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGTGGTGGCGAAGGTGCGC	0.706000												
PCDHB2	56133	broad.mit.edu	37	5	140474401	140474401	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140474401C>T	uc003lil.2	+	1	165	c.27C>T	c.(25-27)CGC>CGT	p.R9R	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	9					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGGAGCGCGTTCCGAAAC	0.542000												
PCDHB6	56130	broad.mit.edu	37	5	140531688	140531688	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140531688C>T	uc003lir.2	+	1	1850	c.1850C>T	c.(1849-1851)GCG>GTG	p.A617V	PCDHB6_uc011dah.1_Missense_Mutation_p.A481V	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	617	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGTGTGGGCGCACAATGGC	0.677000												
PCDHB8	56128	broad.mit.edu	37	5	140558574	140558574	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140558574T>C	uc011dai.1	+	1	1145	c.959T>C	c.(958-960)ATC>ACC	p.I320T	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	320	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTCAATATCGAGGCGAGA	0.398000												
PCDHB12	56124	broad.mit.edu	37	5	140590002	140590002	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140590002C>T	uc003liz.2	+	1	1712	c.1523C>T	c.(1522-1524)GCG>GTG	p.A508V	PCDHB12_uc011dak.1_Missense_Mutation_p.A171V	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	508	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATCAACGCGGACAACGGC	0.677000												
PCDHB14	56122	broad.mit.edu	37	5	140604218	140604218	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140604218A>C	uc003ljb.2	+	1	1141	c.1141A>C	c.(1141-1143)ATG>CTG	p.M381L	PCDHB14_uc011dal.1_Missense_Mutation_p.M228L	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14 precursor	381	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGGGAGGATGATTTGCTC	0.423000												
PCDHGA1	56114	broad.mit.edu	37	5	140710353	140710353	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140710353A>G	uc003lji.1	+	1	102	c.102A>G	c.(100-102)TCA>TCG	p.S34S	PCDHGA1_uc011dan.1_Silent_p.S34S	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	34	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACTACTCAGTGCCGGAAG	0.547000												
PCDHGA2	56113	broad.mit.edu	37	5	140720953	140720953	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140720953G>A	uc003ljk.1	+	1	2600	c.2415G>A	c.(2413-2415)ACG>ACA	p.T805T	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Silent_p.T805T|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	805	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGAAACGTTTTCTCAGG	0.388000												
PCDHGA3	56112	broad.mit.edu	37	5	140723665	140723665	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140723665C>T	uc003ljm.1	+	1	65	c.65C>T	c.(64-66)ACG>ATG	p.T22M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Translation_Start_Site|PCDHGA3_uc011dap.1_Missense_Mutation_p.T22M	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGGGACGCTGTGCGAA	0.547000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGA3	56112	broad.mit.edu	37	5	140725690	140725690	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140725690T>C	uc003ljm.1	+	1	2090	c.2090T>C	c.(2089-2091)GTG>GCG	p.V697A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.V457A|PCDHGA3_uc011dap.1_Missense_Mutation_p.V697A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	697	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGCGGTGGCCGCGGTC	0.682000												
PCDHGA3	56112	broad.mit.edu	37	5	140725741	140725741	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140725741T>A	uc003ljm.1	+	1	2141	c.2141T>A	c.(2140-2142)CTC>CAC	p.L714H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L474H|PCDHGA3_uc011dap.1_Missense_Mutation_p.L714H	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	714	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGGCGCTCAGGCTGCGG	0.682000												
PCDHGB1	56104	broad.mit.edu	37	5	140731334	140731334	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140731334G>A	uc003ljo.1	+	1	1507	c.1507G>A	c.(1507-1509)GTG>ATG	p.V503M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.V503M	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	503	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTGTCCGTGAGCCCGCA	0.667000												
PCDHGB5	56101	broad.mit.edu	37	5	140779085	140779085	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140779085G>T	uc003lkf.1	+	1	1391	c.1391G>T	c.(1390-1392)GGG>GTG	p.G464V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G464V	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	464	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCTCCTGGGGCCTCCATC	0.562000												
PCDHGA11	56105	broad.mit.edu	37	5	140801232	140801232	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:140801232C>T	uc003lkq.1	+	1	696	c.438C>T	c.(436-438)CAC>CAT	p.H146H	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.H146H|PCDHGA11_uc003lkp.1_Silent_p.H146H	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	146	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGAGCACGCAATTCCTG	0.478000												
GNPDA1	10007	broad.mit.edu	37	5	141384602	141384602	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:141384602G>A	uc003lmf.3	-	4	1248	c.489C>T	c.(487-489)GCC>GCT	p.A163A	GNPDA1_uc003lmg.3_Silent_p.A163A|GNPDA1_uc010jgh.2_Silent_p.A163A|GNPDA1_uc003lmh.3_Silent_p.A129A	NM_005471	NP_005462	P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	163					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity				0		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTATCCATGGCCAGCGTCT	0.592000												
FBXO38	81545	broad.mit.edu	37	5	147821616	147821616	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:147821616G>A	uc003lpf.1	+	22	3593	c.3473G>A	c.(3472-3474)CGT>CAT	p.R1158H	FBXO38_uc003lpg.1_Missense_Mutation_p.R1083H|FBXO38_uc003lph.2_Missense_Mutation_p.R913H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	1158						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGAGATGCGTCAGATGAAG	0.398000												
GPX3	2878	broad.mit.edu	37	5	150407589	150407589	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:150407589A>G	uc011dcm.1	+	6	796	c.579A>G	c.(577-579)ATA>ATG	p.I193M	GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	NM_002084	NP_002075	P22352	GPX3_HUMAN	glutathione peroxidase 3 precursor	193					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	CAGATGGTATACCCATCATGC	0.587000												
SLC36A1	206358	broad.mit.edu	37	5	150847485	150847485	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:150847485A>G	uc003luc.2	+	7	939	c.722A>G	c.(721-723)CAG>CGG	p.Q241R	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.Q241R|SLC36A1_uc010jhw.1_Missense_Mutation_p.Q241R	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	241	Extracellular (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TTCATTGTTCAGGTACATGCC	0.348000												
SLC36A1	206358	broad.mit.edu	37	5	150859003	150859003	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:150859003A>G	uc003luc.2	+	10	1329	c.1112A>G	c.(1111-1113)GAG>GGG	p.E371G	GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.E371G|SLC36A1_uc010jhw.1_Missense_Mutation_p.E371G	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 member 1	371	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			skin(1)	1		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GAGCACTGTGAGTTAGTGGTG	0.522000												
HAND1	9421	broad.mit.edu	37	5	153857481	153857481	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:153857481C>T	uc003lvn.2	-	1	344	c.88G>A	c.(88-90)GGT>AGT	p.G30S		NM_004821	NP_004812	O96004	HAND1_HUMAN	basic helix-loop-helix transcription factor	30					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAGGCCGGACCGAAGAGGAAG	0.592000												
GABRA1	2554	broad.mit.edu	37	5	161318019	161318019	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:161318019G>A	uc010jiw.2	+	9	1287	c.819G>A	c.(817-819)TGG>TGA	p.W273*	GABRA1_uc010jix.2_Nonsense_Mutation_p.W273*|GABRA1_uc010jiy.2_Nonsense_Mutation_p.W273*|GABRA1_uc003lyx.3_Nonsense_Mutation_p.W273*|GABRA1_uc010jiz.2_Nonsense_Mutation_p.W273*|GABRA1_uc010jja.2_Nonsense_Mutation_p.W273*|GABRA1_uc010jjb.2_Nonsense_Mutation_p.W273*	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	273	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCTCCTTCTGGCTCAACAGAG	0.413000												
ODZ2	57451	broad.mit.edu	37	5	167545304	167545304	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:167545304C>T	uc010jjd.2	+	10	1821	c.1821C>T	c.(1819-1821)TGC>TGT	p.C607C	ODZ2_uc003lzq.2_Silent_p.C486C|ODZ2_uc003lzr.3_Silent_p.C375C|ODZ2_uc003lzt.3_5'UTR|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CAGCTGCCTGCCCTGTCCTGT	0.572000												
DOCK2	1794	broad.mit.edu	37	5	169267806	169267806	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:169267806C>T	uc003maf.2	+	27	2829	c.2749C>T	c.(2749-2751)CGG>TGG	p.R917W	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R409W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	917					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGCTGCTGCGGACAGTGAA	0.473000												
UIMC1	51720	broad.mit.edu	37	5	176396164	176396164	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:176396164A>T	uc011dfp.1	-	6	759	c.592T>A	c.(592-594)TCA>ACA	p.S198T	UIMC1_uc003mfc.1_Missense_Mutation_p.S75T|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	198	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			ovary(3)|skin(1)	4	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCTTCCTGAGCTGCCAGAG	0.512000												
NSD1	64324	broad.mit.edu	37	5	176720831	176720831	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:176720831A>G	uc003mfr.3	+	23	6602	c.6464_splice	c.e23-2	p.G2155_splice	NSD1_uc003mft.3_Splice_Site_p.G1886_splice|NSD1_uc011dfx.1_Splice_Site_p.G1803_splice	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGTGTTTTCAGGGAAATGGG	0.473000			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
PROP1	5626	broad.mit.edu	37	5	177420032	177420032	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:177420032C>T	uc003mif.1	-	3	668	c.359G>A	c.(358-360)CGC>CAC	p.R120H		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	120	Homeobox.		R -> C (in CPHD2; familial).		central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTAGCTCTGCGGTTCTGGAA	0.562000												
NHP2	55651	broad.mit.edu	37	5	177580799	177580799	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:177580799T>C	uc003mir.2	-	1	163	c.20A>G	c.(19-21)GAT>GGT	p.D7G	NHP2_uc003mis.2_Missense_Mutation_p.D7G	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	nucleolar protein family A, member 2 isoform a	7					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding				0						CCCGTCGGGATCTGCCTTTAT	0.642000												
ZNF354A	6940	broad.mit.edu	37	5	178139580	178139580	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:178139580A>G	uc003mjj.2	-	5	1497	c.1299T>C	c.(1297-1299)ACT>ACC	p.T433T		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	433					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACTTCTCTCCAGTATGAATGA	0.368000												
CANX	821	broad.mit.edu	37	5	179132741	179132741	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:179132741C>T	uc003mkk.2	+	2	236	c.59C>T	c.(58-60)GCT>GTT	p.A20V	CANX_uc011dgp.1_Missense_Mutation_p.A55V|CANX_uc010jlb.1_Missense_Mutation_p.A20V|CANX_uc003mkl.2_Missense_Mutation_p.A20V|CANX_uc011dgq.1_5'UTR	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	20					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	attgttgaggctcatgatgga	0.100000												
SQSTM1	8878	broad.mit.edu	37	5	179260239	179260239	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:179260239G>A	uc003mkw.3	+	6	1057	c.962G>A	c.(961-963)CGC>CAC	p.R321H	SQSTM1_uc011dgr.1_Missense_Mutation_p.R237H|SQSTM1_uc011dgs.1_Missense_Mutation_p.R237H|SQSTM1_uc003mkv.3_Intron|SQSTM1_uc003mkx.2_Missense_Mutation_p.R237H	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	321	Interaction with NTRK1 (By similarity).			R -> A (in Ref. 1; AAA93299).	anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCGAGGGGCGCCCTGAGGCA	0.672000									Paget_Disease_of_Bone			
GFPT2	9945	broad.mit.edu	37	5	179762943	179762943	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:179762943G>A	uc003mlw.1	-	4	323	c.225C>T	c.(223-225)AGC>AGT	p.S75S		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	75	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTAAGTCCATGCTGTCTTGTT	0.542000												
IRF4	3662	broad.mit.edu	37	6	398884	398884	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:398884G>A	uc003msz.3	+	6	807	c.694G>A	c.(694-696)GGA>AGA	p.G232R	IRF4_uc010jne.1_Missense_Mutation_p.G232R|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.G231R|IRF4_uc003mtc.1_Missense_Mutation_p.G62R	NM_002460	NP_002451	Q15306	IRF4_HUMAN	interferon regulatory factor 4	232					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(1)	1		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCAGGCTCCCGGAGTCCCCAC	0.562000			T	IGH@	MM 							
SERPINB6	5269	broad.mit.edu	37	6	2953378	2953378	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:2953378A>G	uc003muk.2	-	4	2468	c.473T>C	c.(472-474)TTG>TCG	p.L158S	SERPINB6_uc003mui.2_Missense_Mutation_p.L41S|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.L158S|SERPINB6_uc003mum.2_Missense_Mutation_p.L158S|SERPINB6_uc003mun.2_Missense_Mutation_p.L158S|SERPINB6_uc003muo.2_Missense_Mutation_p.L158S	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	158					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGCCTTGTCAATGGATCCAC	0.502000											OREG0017145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C6orf145	221749	broad.mit.edu	37	6	3727819	3727819	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:3727819C>A	uc003mvt.2	-	4	1025	c.544G>T	c.(544-546)GAC>TAC	p.D182Y		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	hypothetical protein LOC221749	182					cell communication		phosphatidylinositol binding			breast(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGCTGCTGGTCTCTTCCATTT	0.433000												
F13A1	2162	broad.mit.edu	37	6	6266932	6266932	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:6266932G>A	uc003mwv.2	-	4	553	c.430C>T	c.(430-432)CGG>TGG	p.R144W	F13A1_uc011dib.1_Missense_Mutation_p.R81W	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	144					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	ATGGACAGCCGCACAGACCTG	0.512000												
LY86	9450	broad.mit.edu	37	6	6654835	6654835	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:6654835C>T	uc003mwy.1	+	5	498	c.464C>T	c.(463-465)GCC>GTC	p.A155V	LY86_uc003mwz.1_RNA	NM_004271	NP_004262	O95711	LY86_HUMAN	MD-1, RP105-associated precursor	155					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane					0	Ovarian(93;0.0377)					GTGGCCTGTGCCAATGCTACT	0.527000												
RREB1	6239	broad.mit.edu	37	6	7247433	7247433	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:7247433C>T	uc003mxc.2	+	11	4975	c.4585C>T	c.(4585-4587)CGG>TGG	p.R1529W	RREB1_uc003mxb.2_Missense_Mutation_p.R1584W|RREB1_uc010jnx.2_Intron	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	1529	C2H2-type 14.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGACCTGACCCGGCACATGCG	0.637000												
DSP	1832	broad.mit.edu	37	6	7585773	7585773	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:7585773G>A	uc003mxp.1	+	24	8557	c.8278G>A	c.(8278-8280)GCC>ACC	p.A2760T	DSP_uc003mxq.1_Missense_Mutation_p.A2161T	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2760	Plectin 16.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGATGGCCGCGCCGCACAGAG	0.522000												
NEDD9	4739	broad.mit.edu	37	6	11190484	11190484	+	Missense_Mutation	SNP	C	C	T	rs144452810		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:11190484C>T	uc003mzv.2	-	5	1785	c.1618G>A	c.(1618-1620)GAT>AAT	p.D540N	NEDD9_uc010joz.2_Missense_Mutation_p.D540N|NEDD9_uc003mzw.3_Missense_Mutation_p.D394N	NM_006403	NP_006394	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally	540					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding				0	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGGCGTCATCGGGCACCGTC	0.562000												
JARID2	3720	broad.mit.edu	37	6	15410470	15410470	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:15410470A>G	uc003nbj.2	+	3	441	c.197A>G	c.(196-198)GAC>GGC	p.D66G	JARID2_uc011diu.1_5'UTR|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.D28G	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	66					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTTGGTAATGACCAGTCTAAG	0.458000												
KIF13A	63971	broad.mit.edu	37	6	17817374	17817374	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:17817374C>T	uc003ncg.3	-	17	1982	c.1877G>A	c.(1876-1878)CGG>CAG	p.R626Q	KIF13A_uc003ncf.2_Missense_Mutation_p.R626Q|KIF13A_uc003nch.3_Missense_Mutation_p.R626Q|KIF13A_uc003nci.3_Missense_Mutation_p.R626Q|KIF13A_uc003ncj.2_Missense_Mutation_p.R302Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	626	Potential.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCCAGTTCCCGCTCATACAT	0.582000												
SCGN	10590	broad.mit.edu	37	6	25665221	25665221	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:25665221C>T	uc003nfb.2	+	4	500	c.297C>T	c.(295-297)CGC>CGT	p.R99R	SCGN_uc010jpz.2_Missense_Mutation_p.A9V	NM_006998	NP_008929	O76038	SEGN_HUMAN	secretagogin precursor	99						extracellular region|transport vesicle membrane	calcium ion binding			ovary(2)|pancreas(1)	3						TGCTCTTTCGCCGGGAAAACC	0.478000												
BTN3A1	11119	broad.mit.edu	37	6	26413635	26413635	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:26413635A>G	uc003nhv.2	+	10	1625	c.1257A>G	c.(1255-1257)AAA>AAG	p.K419K	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.K367K|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	419	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						TGCAGAGAAAAGGCTGGGTCA	0.493000												
BTN2A1	11120	broad.mit.edu	37	6	26465489	26465489	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:26465489C>T	uc003nib.1	+	5	1001	c.789C>T	c.(787-789)GCC>GCT	p.A263A	BTN2A1_uc003nic.1_Silent_p.A263A|BTN2A1_uc003nid.1_Silent_p.A111A|BTN2A1_uc011dko.1_Silent_p.A202A|BTN2A1_uc010jqk.1_Silent_p.A23A	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1 isoform 1	263	Helical; (Potential).				lipid metabolic process	integral to plasma membrane				ovary(1)|skin(1)	2						TACCCATTGCCGTATGCATCT	0.433000												
HIST1H1B	3009	broad.mit.edu	37	6	27834922	27834922	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:27834922G>A	uc003njx.2	-	1	438	c.386C>T	c.(385-387)GCT>GTT	p.A129V		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	129					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						CTTAGCTTTAGCGGCGCCTGC	0.597000												
ZNF193	7746	broad.mit.edu	37	6	28200820	28200820	+	Missense_Mutation	SNP	G	G	A	rs140538924	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:28200820G>A	uc003nkq.1	+	4	1164	c.1049G>A	c.(1048-1050)CGT>CAT	p.R350H	ZNF193_uc003nkr.1_Missense_Mutation_p.R350H|ZNF193_uc010jqz.1_Missense_Mutation_p.R401H	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	350	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TACAGTCGGCGTTCATTTCTC	0.493000												
GABBR1	2550	broad.mit.edu	37	6	29577082	29577082	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29577082C>T	uc003nmt.3	-	15	2119	c.1783G>A	c.(1783-1785)GTC>ATC	p.V595I	GABBR1_uc003nmp.3_Missense_Mutation_p.V478I|GABBR1_uc003nms.3_Missense_Mutation_p.V478I|GABBR1_uc003nmu.3_Missense_Mutation_p.V533I|GABBR1_uc011dlr.1_Missense_Mutation_p.V418I|GABBR1_uc011dls.1_Intron	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	595	Helical; Name=1; (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)	AGAACTGAGACGGAGATAAAG	0.473000												
ZFP57	346171	broad.mit.edu	37	6	29641137	29641137	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29641137G>A	uc011dlw.1	-	4	902	c.751C>T	c.(751-753)CGC>TGC	p.R251C	ZFP57_uc003nnl.3_Missense_Mutation_p.R231C	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	167	C2H2-type 3.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5						AGATGGACGCGGCGGTGACGA	0.557000												
GNL1	2794	broad.mit.edu	37	6	30522958	30522958	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:30522958G>A	uc003nqh.2	-	3	1278	c.250C>T	c.(250-252)CAT>TAT	p.H84Y	GNL1_uc011dmi.1_5'UTR|GNL1_uc011dmj.1_Missense_Mutation_p.H82Y|GNL1_uc011dmk.1_Intron|PRR3_uc003nqi.1_5'Flank|PRR3_uc003nqj.1_5'Flank	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	84					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3						CTCTCAAAATGCAGTCGGTAT	0.517000												
NRM	11270	broad.mit.edu	37	6	30658014	30658014	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:30658014C>T	uc003nrc.2	-	2	158	c.140G>A	c.(139-141)CGC>CAC	p.R47H	KIAA1949_uc003nra.2_5'Flank|KIAA1949_uc003nrb.3_5'Flank|NRM_uc003nrd.2_RNA|NRM_uc003nre.2_Intron	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	nurim	47	Perinuclear space (Potential).					integral to membrane|nuclear inner membrane					0						CCATCCCTGGCGGGCATCTAC	0.577000												
MDC1	9656	broad.mit.edu	37	6	30670606	30670606	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:30670606C>T	uc003nrg.3	-	13	6354	c.5914G>A	c.(5914-5916)GAC>AAC	p.D1972N	MDC1_uc003nrf.3_Missense_Mutation_p.D603N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1972	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|ovary(1)|kidney(1)	4						TGCTCAGGGTCGGTCACCACA	0.547000								Other_conserved_DNA_damage_response_genes				
PSORS1C1	170679	broad.mit.edu	37	6	31097424	31097424	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31097424T>C	uc003nsl.1	+	3	287	c.13_splice	c.e3+2	p.D5_splice	PSORS1C1_uc010jsj.1_Intron|PSORS1C1_uc003nsn.1_Splice_Site	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	SEEK1 protein											ovary(1)	1						cttgcacaggtgagttacctc	0.080000												
HLA-C	3107	broad.mit.edu	37	6	31239405	31239405	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31239405A>G	uc003nsy.2	-	2	321	c.314T>C	c.(313-315)CTG>CCG	p.L105P	HLA-C_uc011dnj.1_Missense_Mutation_p.L77P|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.L105P|HLA-C_uc010jsl.2_Missense_Mutation_p.L105P|HLA-C_uc003nta.2_Missense_Mutation_p.L105P|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	105	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						GTAGCCGCGCAGGTTCCGCAG	0.711000												
BAT3	7917	broad.mit.edu	37	6	31608942	31608942	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31608942A>G	uc003nvg.3	-	19	2950	c.2636T>C	c.(2635-2637)CTA>CCA	p.L879P	BAT3_uc003nvf.3_Missense_Mutation_p.L873P|BAT3_uc003nvh.3_Missense_Mutation_p.L873P|BAT3_uc003nvi.3_Missense_Mutation_p.L873P|BAT3_uc011dnw.1_Missense_Mutation_p.L873P|BAT3_uc011dnx.1_Missense_Mutation_p.L747P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	879					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						GTGCAGGTTTAGGGCCAGGCA	0.527000												
BAT3	7917	broad.mit.edu	37	6	31615562	31615562	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31615562C>T	uc003nvg.3	-	7	926	c.612G>A	c.(610-612)CCG>CCA	p.P204P	BAT3_uc003nvf.3_Silent_p.P198P|BAT3_uc003nvh.3_Silent_p.P198P|BAT3_uc003nvi.3_Silent_p.P198P|BAT3_uc011dnw.1_Silent_p.P198P|BAT3_uc011dnx.1_Silent_p.P198P|BAT3_uc003nvj.1_Silent_p.P198P	NM_004639	NP_004630	P46379	BAG6_HUMAN	HLA-B associated transcript-3 isoform a	204	Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding				0						CCGGTGGCTGCGGGGGCGGCT	0.607000												
SKIV2L	6499	broad.mit.edu	37	6	31928236	31928236	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31928236G>A	uc003nyn.1	+	5	771	c.382G>A	c.(382-384)GCT>ACT	p.A128T	RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nyl.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Intron|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	128						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						AAATCTCTCGGCTACAACCTC	0.557000												
NOTCH4	4855	broad.mit.edu	37	6	32169930	32169930	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:32169930G>A	uc003obb.2	-	21	3817	c.3678C>T	c.(3676-3678)GAC>GAT	p.D1226D	NOTCH4_uc003oba.2_Translation_Start_Site|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1226	LNR 2.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GGCACTGCCCGTCCCGGAAGA	0.627000												
BRD2	6046	broad.mit.edu	37	6	32945317	32945317	+	Silent	SNP	C	C	T	rs139231674		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:32945317C>T	uc003ocn.3	+	8	3000	c.1299C>T	c.(1297-1299)CAC>CAT	p.H433H	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.H433H|BRD2_uc003ocp.3_Silent_p.H313H|BRD2_uc010juh.2_Silent_p.H433H	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	433	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCCCAGATCACGATGTTGTGG	0.463000												
SLC39A7	7922	broad.mit.edu	37	6	33169607	33169607	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:33169607G>A	uc003odf.2	+	3	614	c.497G>A	c.(496-498)CGC>CAC	p.R166H	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.R166H|SLC39A7_uc011dqv.1_Missense_Mutation_p.R41H|SLC39A7_uc003odh.2_5'Flank|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	166						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						CCCCGGCATCGCTCTCTACTT	0.542000												
SCUBE3	222663	broad.mit.edu	37	6	35205683	35205683	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:35205683C>A	uc003okf.1	+	7	723	c.717C>A	c.(715-717)ACC>ACA	p.T239T	SCUBE3_uc003okg.1_Silent_p.T238T|SCUBE3_uc003okh.1_Silent_p.T126T	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	239	EGF-like 6.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1						AAACAGAGACCTGTGCTGTCA	0.577000												
LHFPL5	222662	broad.mit.edu	37	6	35782386	35782386	+	Missense_Mutation	SNP	G	G	A	rs139179263	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:35782386G>A	uc003olg.1	+	2	853	c.476G>A	c.(475-477)CGC>CAC	p.R159H		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	159						integral to membrane				skin(1)	1						GAGGTGCGGCGCATGTGTGGG	0.632000												
MAPK13	5603	broad.mit.edu	37	6	36099077	36099077	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36099077A>C	uc003ols.2	+	2	247	c.149A>C	c.(148-150)AAG>ACG	p.K50T	MAPK13_uc003olt.2_RNA	NM_002754	NP_002745	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	50	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)	3						TCAGGGGAGAAGGTGGCCATC	0.647000												
C6orf222	389384	broad.mit.edu	37	6	36291215	36291215	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36291215C>T	uc003oly.2	-	8	1504	c.1326G>A	c.(1324-1326)GCG>GCA	p.A442A		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	hypothetical protein LOC389384	442										skin(2)|ovary(1)|breast(1)	4						TATGGTAAAACGCTCTCCTGA	0.572000												
ETV7	51513	broad.mit.edu	37	6	36343658	36343658	+	Silent	SNP	C	C	T	rs138350746		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36343658C>T	uc003omb.2	-	3	446	c.297G>A	c.(295-297)GCG>GCA	p.A99A	ETV7_uc003olz.1_Silent_p.A99A|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.A27T|ETV7_uc010jwh.2_Silent_p.A18A|ETV7_uc010jwi.2_Silent_p.A99A|ETV7_uc011dtl.1_Intron	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	99	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTGAGCTGGGCGCACGGTGCC	0.652000												
SFRS3	6428	broad.mit.edu	37	6	36566642	36566642	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36566642C>T	uc003omj.2	+	3	394	c.223C>T	c.(223-225)CGT>TGT	p.R75C	SFRS3_uc003omk.2_RNA|SFRS3_uc011dtp.1_Missense_Mutation_p.R75C	NM_003017	NP_003008	P84103	SRSF3_HUMAN	splicing factor, arginine/serine-rich 3	75	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0						ATGTGGCTGCCGTGTAAGAGT	0.463000			T	BCL6	follicular lymphoma							
GLO1	2739	broad.mit.edu	37	6	38670752	38670752	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:38670752T>C	uc003ooc.2	-	1	201	c.79A>G	c.(79-81)ACC>GCC	p.T27A		NM_006708	NP_006699	Q04760	LGUL_HUMAN	glyoxalase I	27					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			ovary(1)	1					Glutathione(DB00143)	CCCACCTTGGTACTGGGGTCC	0.706000												
DNAH8	1769	broad.mit.edu	37	6	38791451	38791451	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:38791451T>C	uc003ooe.1	+	26	3783	c.3183T>C	c.(3181-3183)CTT>CTC	p.L1061L		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TAGGAGCACTTGAATTACATA	0.318000												
MOCS1	4337	broad.mit.edu	37	6	39877590	39877590	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:39877590C>T	uc003opb.2	-	8	1229	c.1091G>A	c.(1090-1092)CGG>CAG	p.R364Q	MOCS1_uc003opa.2_Missense_Mutation_p.R364Q|MOCS1_uc003opc.2_Missense_Mutation_p.R364Q|MOCS1_uc003opd.2_Missense_Mutation_p.R364Q|MOCS1_uc003ope.2_Missense_Mutation_p.R277Q	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	364	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGCATGCTGCCGCTTCTTCCT	0.612000												
TREML1	340205	broad.mit.edu	37	6	41121642	41121642	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:41121642G>A	uc011duc.1	-	2	274	c.230C>T	c.(229-231)ACG>ATG	p.T77M	TREML1_uc003opx.2_Missense_Mutation_p.T77M|TREML1_uc011dud.1_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid	77	Ig-like V-type.|Extracellular (Potential).				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(1)	1	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTGAGAAACGTACGCCTGCC	0.627000												
TFEB	7942	broad.mit.edu	37	6	41652349	41652349	+	Silent	SNP	G	G	A	rs150378781	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:41652349G>A	uc003oqs.1	-	10	1721	c.1419C>T	c.(1417-1419)GGC>GGT	p.G473G	TFEB_uc003oqt.1_Silent_p.G473G|TFEB_uc003oqu.1_Silent_p.G487G|TFEB_uc003oqr.1_Silent_p.G388G	NM_007162	NP_009093	P19484	TFEB_HUMAN	transcription factor EB	473				EPLAPGHGSPFPSLSKKDLDLMLLDDSLLPLASDPLLSTMS PEASKASSRRSSFSMEEGDVL -> DRN (in Ref. 1).	embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACAGCACATCGCCCTCCTCCA	0.687000			T	ALPHA	renal (childhood epithelioid)							
MRPS10	55173	broad.mit.edu	37	6	42176060	42176060	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:42176060T>C	uc003osa.3	-	7	619	c.573A>G	c.(571-573)ACA>ACG	p.T191T	MRPS10_uc011dup.1_Silent_p.T150T	NM_018141	NP_060611	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	191					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome				0	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			CTTCTGATAGTGTTTCCCAGA	0.368000												
KLC4	89953	broad.mit.edu	37	6	43039913	43039913	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43039913C>A	uc003otv.1	+	12	1485	c.1408C>A	c.(1408-1410)CTG>ATG	p.L470M	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.L393M|KLC4_uc003otw.1_Missense_Mutation_p.L488M|KLC4_uc003otx.1_Missense_Mutation_p.L470M|KLC4_uc003oty.1_Missense_Mutation_p.L470M|KLC4_uc003otz.1_Missense_Mutation_p.L470M	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	470	TPR 7.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TCTGAGAAACCTGGGAGCTCT	0.532000												
CUL9	23113	broad.mit.edu	37	6	43154719	43154719	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43154719C>T	uc003ouk.2	+	5	1348	c.1273C>T	c.(1273-1275)CGC>TGC	p.R425C	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.R425C|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	425					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GTCGACAGGCCGCACTTACTG	0.572000												
CUL9	23113	broad.mit.edu	37	6	43166454	43166454	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43166454C>T	uc003ouk.2	+	12	2986	c.2911C>T	c.(2911-2913)CTG>TTG	p.L971L	CUL9_uc003oul.2_Silent_p.L971L|CUL9_uc010jyk.2_Silent_p.L123L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	971					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						GGAGCGTGTGCTGTGCCGTGA	0.642000												
ZNF318	24149	broad.mit.edu	37	6	43310600	43310600	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43310600A>G	uc003oux.2	-	7	3168	c.3090T>C	c.(3088-3090)AAT>AAC	p.N1030N	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1030					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GAAACTTCTCATTGTTTACTT	0.428000												
ABCC10	89845	broad.mit.edu	37	6	43403984	43403984	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:43403984A>G	uc003ouy.1	+	6	2089	c.1874A>G	c.(1873-1875)AAG>AGG	p.K625R	ABCC10_uc003ouz.1_Missense_Mutation_p.K597R|ABCC10_uc010jyo.1_5'UTR	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	625	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GAAGTGAAAAAGGTTTGTTGG	0.517000												
MEP1A	4224	broad.mit.edu	37	6	46802479	46802479	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:46802479G>A	uc010jzh.1	+	12	1816	c.1774G>A	c.(1774-1776)GAC>AAC	p.D592N	MEP1A_uc011dwg.1_Missense_Mutation_p.D314N|MEP1A_uc011dwh.1_Missense_Mutation_p.D620N|MEP1A_uc011dwi.1_Missense_Mutation_p.D492N	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	592	MATH.|Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)			CATATTTGTGGACTTTGAAGG	0.408000												
DEFB113	245927	broad.mit.edu	37	6	49936542	49936542	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:49936542T>C	uc011dwq.1	-	2	97	c.97A>G	c.(97-99)AGA>GGA	p.R33G		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	beta-defensin 113 precursor	33					defense response to bacterium	extracellular region					0	Lung NSC(77;0.042)					TGACATTCTCTTTTTCTCTCT	0.398000												
GCLC	2729	broad.mit.edu	37	6	53364900	53364900	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:53364900C>T	uc003pbw.1	-	15	2033	c.1645G>A	c.(1645-1647)GTG>ATG	p.V549M	GCLC_uc003pbv.1_Missense_Mutation_p.V273M	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	549					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTGGTGTCCACATCCACTTCC	0.398000												
FAM83B	222584	broad.mit.edu	37	6	54806576	54806576	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:54806576G>A	uc003pck.2	+	5	2923	c.2807G>A	c.(2806-2808)CGT>CAT	p.R936H		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	936										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					GTTTACAGTCGTTTTGAGCCG	0.443000												
PRIM2	5558	broad.mit.edu	37	6	57472369	57472369	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:57472369C>A	uc003pdx.2	+	13	1245	c.1158C>A	c.(1156-1158)TTC>TTA	p.F386L		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	386					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GGTGCCCATTCCGTCACAGTG	0.458000												
RIMS1	22999	broad.mit.edu	37	6	72892670	72892670	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:72892670A>G	uc003pga.2	+	6	1573	c.1496A>G	c.(1495-1497)GAC>GGC	p.D499G	RIMS1_uc011dyb.1_Missense_Mutation_p.D125G|RIMS1_uc003pgc.2_Missense_Mutation_p.D125G|RIMS1_uc003pgb.3_Missense_Mutation_p.D125G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	499					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTGCGGAACGACTCTTTGAGC	0.677000												
COL12A1	1303	broad.mit.edu	37	6	75831103	75831103	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75831103A>G	uc003phs.2	-	44	7167	c.7001T>C	c.(7000-7002)ATT>ACT	p.I2334T	COL12A1_uc003pht.2_Missense_Mutation_p.I1170T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	2334	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						ATCGTCCCCAATGCTCCAGGA	0.423000												
COL12A1	1303	broad.mit.edu	37	6	75848669	75848669	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75848669G>A	uc003phs.2	-	28	5132	c.4966C>T	c.(4966-4968)CCA>TCA	p.P1656S	COL12A1_uc003pht.2_Missense_Mutation_p.P492S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1656	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GTTGGGGCTGGCACGGGTCCT	0.383000												
COL12A1	1303	broad.mit.edu	37	6	75862092	75862092	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75862092A>G	uc003phs.2	-	18	3838	c.3672T>C	c.(3670-3672)CGT>CGC	p.R1224R	COL12A1_uc003pht.2_Silent_p.R60R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1224	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						CTTCCACAATACGAGAAATGA	0.443000												
COL12A1	1303	broad.mit.edu	37	6	75884752	75884752	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:75884752A>G	uc003phs.2	-	13	2876	c.2710_splice	c.e13+1	p.E904_splice	COL12A1_uc003pht.2_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform						cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						GATGGTAATTACCTTCAAGTG	0.443000												
FILIP1	27145	broad.mit.edu	37	6	76024861	76024861	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:76024861A>G	uc003pia.2	-	5	1060	c.687T>C	c.(685-687)AAT>AAC	p.N229N	FILIP1_uc003phy.1_Silent_p.N229N|FILIP1_uc003phz.2_Silent_p.N130N|FILIP1_uc010kbe.2_Silent_p.N232N|FILIP1_uc003pib.1_5'UTR	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	229	Potential.									skin(3)|ovary(1)	4						GTCGTTTAGCATTTTCCTTTT	0.353000												
HTR1B	3351	broad.mit.edu	37	6	78172447	78172447	+	Missense_Mutation	SNP	A	A	G	rs150030508	by1000genomes	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:78172447A>G	uc003pil.1	-	1	674	c.674T>C	c.(673-675)ATC>ACC	p.I225T		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	225	Helical; Name=5; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	ATAGAGGGCGATGAGGAGCAG	0.597000												
LCA5	167691	broad.mit.edu	37	6	80228501	80228501	+	Silent	SNP	C	C	T	rs138424901		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:80228501C>T	uc003pix.2	-	2	546	c.111G>A	c.(109-111)TCG>TCA	p.S37S	LCA5_uc003piy.2_Silent_p.S37S|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Silent_p.S37S	NM_001122769	NP_001116241	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	37					protein transport	cilium axoneme|microtubule basal body	protein binding				0		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AACTGACCAGCGATGATCGGC	0.418000												
FAM46A	55603	broad.mit.edu	37	6	82459685	82459685	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:82459685A>G	uc003pjg.2	-	3	1374	c.1056T>C	c.(1054-1056)TAT>TAC	p.Y352Y	FAM46A_uc003pjf.2_Silent_p.Y371Y	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	352											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGAGATACTCATACTTGCGGT	0.453000												
DOPEY1	23033	broad.mit.edu	37	6	83828616	83828616	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:83828616C>T	uc003pjs.1	+	8	1050	c.790C>T	c.(790-792)CCG>TCG	p.P264S	DOPEY1_uc011dyy.1_Missense_Mutation_p.P264S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P264S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	264					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGCCACTCGACCGGATATGAT	0.373000												
KIAA1009	22832	broad.mit.edu	37	6	84930881	84930881	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:84930881A>T	uc010kbp.2	-	3	163	c.66T>A	c.(64-66)GAT>GAA	p.D22E	KIAA1009_uc003pkj.3_5'UTR|KIAA1009_uc003pkk.2_Missense_Mutation_p.D22E	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	22					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CAAAAGAATCATCTGAAAGCT	0.303000												
SYNCRIP	10492	broad.mit.edu	37	6	86324688	86324688	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:86324688G>A	uc003pla.2	-	11	2199	c.1658C>T	c.(1657-1659)GCG>GTG	p.A553V	SYNCRIP_uc003pku.2_Intron|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Intron|SYNCRIP_uc003pkv.2_Intron|SYNCRIP_uc003pkx.2_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.A518V	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	553	Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCCACCCCTCGCACCACGTAC	0.592000												
ZNF292	23036	broad.mit.edu	37	6	87966824	87966824	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:87966824A>G	uc003plm.3	+	8	3518	c.3477A>G	c.(3475-3477)TCA>TCG	p.S1159S		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTTGCCATCACCGGTGAACA	0.393000												
PRDM13	59336	broad.mit.edu	37	6	100061025	100061025	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:100061025C>T	uc003pqg.1	+	4	775	c.514C>T	c.(514-516)CAC>TAC	p.H172Y		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGCCTTCCTGCACCACGAACA	0.667000												
LACE1	246269	broad.mit.edu	37	6	108677980	108677980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:108677980G>T	uc003psj.2	+	5	790	c.604G>T	c.(604-606)GAA>TAA	p.E202*		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	lactation elevated 1	202							ATP binding			central_nervous_system(1)	1		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CATAGCCGAAGAAATCAGCGA	0.358000												
CDC40	51362	broad.mit.edu	37	6	110550125	110550125	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:110550125A>G	uc003pua.2	+	14	1532	c.1508A>G	c.(1507-1509)AAG>AGG	p.K503R		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	503					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AAAATTTTTAAGGGCCATATG	0.338000												
REV3L	5980	broad.mit.edu	37	6	111632452	111632452	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:111632452C>T	uc003puy.3	-	29	8938	c.8615G>A	c.(8614-8616)CGT>CAT	p.R2872H	REV3L_uc003pux.3_Missense_Mutation_p.R2794H|REV3L_uc003puz.3_Missense_Mutation_p.R2794H|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2872					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTAGAGAACGCTCAAGTAT	0.328000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
MCM9	254394	broad.mit.edu	37	6	119238766	119238766	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:119238766G>A	uc003pyh.2	-	5	1127	c.864C>T	c.(862-864)TTC>TTT	p.F288F		NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378000												
ENPP3	5169	broad.mit.edu	37	6	132014691	132014691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:132014691C>T	uc003qcu.3	+	16	1686	c.1339C>T	c.(1339-1341)CGA>TGA	p.R447*	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Nonsense_Mutation_p.R447*	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	447	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TTTGCCAAAGCGACTGCACTA	0.393000												
VNN1	8876	broad.mit.edu	37	6	133005621	133005621	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:133005621T>C	uc003qdo.2	-	6	1232	c.1212A>G	c.(1210-1212)AAA>AAG	p.K404K	VNN1_uc003qdn.2_RNA	NM_004666	NP_004657	O95497	VNN1_HUMAN	vanin 1 precursor	404					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			ovary(3)	3	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AATTAGTCGTTTTACATTTCA	0.318000												
SLC2A12	154091	broad.mit.edu	37	6	134323146	134323146	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:134323146C>T	uc003qem.1	-	4	1860	c.1689G>A	c.(1687-1689)GAG>GAA	p.E563E		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	563	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		CTTTTGCTAGCTCCATTGATA	0.333000												
TXLNB	167838	broad.mit.edu	37	6	139569028	139569028	+	Silent	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:139569028T>G	uc011eds.1	-	8	1261	c.1096A>C	c.(1096-1098)AGG>CGG	p.R366R		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	366						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TCTTCAAACCTTCCTGAGTAG	0.378000												
LTV1	84946	broad.mit.edu	37	6	144184652	144184652	+	Silent	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:144184652T>A	uc003qjs.2	+	11	1523	c.1416T>A	c.(1414-1416)GGT>GGA	p.G472G	C6orf94_uc010khj.2_Intron|C6orf94_uc010khk.2_5'Flank|C6orf94_uc011edy.1_5'Flank	NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	LTV1 homolog	472	Potential.									ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ATGTTGAGGGTCTAAAGCTAT	0.398000												
GRM1	2911	broad.mit.edu	37	6	146720131	146720131	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:146720131T>C	uc010khw.1	+	8	2426	c.1956T>C	c.(1954-1956)CCT>CCC	p.P652P	GRM1_uc010khv.1_Silent_p.P652P|GRM1_uc003qll.2_Silent_p.P652P|GRM1_uc011edz.1_Silent_p.P652P|GRM1_uc011eea.1_Silent_p.P652P	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	652	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTGCCAAACCTACTACCACCT	0.517000												
KATNA1	11104	broad.mit.edu	37	6	149953934	149953934	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:149953934T>C	uc003qmr.1	-	2	326	c.281A>G	c.(280-282)GAG>GGG	p.E94G	KATNA1_uc003qms.2_Missense_Mutation_p.E94G|KATNA1_uc003qmt.2_Missense_Mutation_p.E94G|KATNA1_uc011eed.1_Missense_Mutation_p.E94G	NM_007044	NP_008975	O75449	KTNA1_HUMAN	katanin p60 subunit A 1	94	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			skin(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GACTTCTCCCTCAGAAGCTGG	0.418000												
PCMT1	5110	broad.mit.edu	37	6	150071036	150071036	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:150071036C>T	uc003qne.2	+	1	206	c.173C>T	c.(172-174)GCG>GTG	p.A58V	PCMT1_uc003qna.2_Missense_Mutation_p.A58V|PCMT1_uc003qnb.2_Missense_Mutation_p.A58V|PCMT1_uc011eeg.1_Missense_Mutation_p.A58V|PCMT1_uc003qnc.2_5'UTR|PCMT1_uc003qnd.2_Missense_Mutation_p.A58V|PCMT1_uc003qnf.2_Missense_Mutation_p.A58V	NM_005389	NP_005380			protein-L-isoaspartate (D-aspartate)											ovary(1)	1		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		GTGTGCTTAGCGATGGCCTGG	0.542000												
SYNE1	23345	broad.mit.edu	37	6	152676066	152676066	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:152676066C>T	uc010kiw.2	-	67	11256	c.10654G>A	c.(10654-10656)GTG>ATG	p.V3552M	SYNE1_uc003qot.3_Missense_Mutation_p.V3559M|SYNE1_uc003qou.3_Missense_Mutation_p.V3552M|SYNE1_uc010kja.1_Missense_Mutation_p.V257M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3552	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTGCAGCACTGAGTTCAAC	0.542000										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152690137	152690137	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:152690137A>C	uc010kiw.2	-	61	10379	c.9777T>G	c.(9775-9777)TCT>TCG	p.S3259S	SYNE1_uc003qot.3_Silent_p.S3266S|SYNE1_uc003qou.3_Silent_p.S3259S|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Silent_p.S337S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3259	Spectrin 6.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGATACTGAGAAGACAGCT	0.507000										HNSCC(10;0.0054)		
FBXO5	26271	broad.mit.edu	37	6	153296041	153296041	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:153296041C>A	uc003qpg.2	-	2	927	c.818_splice	c.e2+1	p.N273_splice	FBXO5_uc003qph.2_Splice_Site_p.N227_splice	NM_012177	NP_036309	Q9UKT4	FBX5_HUMAN	F-box only protein 5 isoform a						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACAGTACTTACTTGATTAAGT	0.378000												
RSPH3	83861	broad.mit.edu	37	6	159420643	159420643	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:159420643G>T	uc003qrx.2	-	1	556	c.366C>A	c.(364-366)ACC>ACA	p.T122T	RSPH3_uc010kju.2_Silent_p.T122T|RSPH3_uc003qry.1_Silent_p.T122T	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog	122										ovary(1)|skin(1)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGGGCGCTAAGGTGTTGTGGG	0.642000												
RPS6KA2	6196	broad.mit.edu	37	6	166952165	166952165	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:166952165G>T	uc003qvb.1	-	2	426	c.207C>A	c.(205-207)TCC>TCA	p.S69S	RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvc.1_Silent_p.S77S|RPS6KA2_uc003qvd.1_Silent_p.S94S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	69	ATP (By similarity).|Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCTTTCCATAGGATCCTTGTC	0.512000												
DLL1	28514	broad.mit.edu	37	6	170592536	170592536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:170592536G>A	uc003qxm.2	-	9	2301	c.1831C>T	c.(1831-1833)CAG>TAG	p.Q611*		NM_005618	NP_005609	O00548	DLL1_HUMAN	delta-like 1 precursor	611	Cytoplasmic (Potential).				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			lung(4)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TTCTTGATCTGCGTGGCCCCG	0.617000												
TMEM184A	202915	broad.mit.edu	37	7	1587535	1587535	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:1587535C>T	uc003skv.3	-	8	1172	c.855G>A	c.(853-855)CCG>CCA	p.P285P	TMEM184A_uc003skt.3_Silent_p.P264P|TMEM184A_uc003skw.3_Silent_p.P90P	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	285						integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TCTCCACCTCCGGGATGACCC	0.701000												
C7orf27	221927	broad.mit.edu	37	7	2577869	2577869	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:2577869T>C	uc003smi.2	-	14	2342	c.2300A>G	c.(2299-2301)CAG>CGG	p.Q767R	C7orf27_uc003smh.3_Missense_Mutation_p.Q199R	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	hypothetical protein LOC221927 precursor	767					response to ionizing radiation	nucleus	protein binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;2.91e-14)		CTCAGGCTCCTGGTCCCCTGG	0.716000												
SDK1	221935	broad.mit.edu	37	7	4050672	4050672	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4050672G>A	uc003smx.2	+	15	2345	c.2206G>A	c.(2206-2208)GCT>ACT	p.A736T	SDK1_uc010kso.2_Missense_Mutation_p.A12T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	736	Fibronectin type-III 1.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTGACTCCGGCTCGTACCTA	0.577000												
SDK1	221935	broad.mit.edu	37	7	4169604	4169604	+	Missense_Mutation	SNP	C	C	T	rs140791078		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4169604C>T	uc003smx.2	+	27	4143	c.4004C>T	c.(4003-4005)ACG>ATG	p.T1335M	SDK1_uc010kso.2_Missense_Mutation_p.T611M|SDK1_uc003smy.2_Translation_Start_Site	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1335	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGAACCACACGCAGTCGGCC	0.652000												
SDK1	221935	broad.mit.edu	37	7	4218216	4218216	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4218216C>T	uc003smx.2	+	35	5235	c.5096C>T	c.(5095-5097)GCT>GTT	p.A1699V	SDK1_uc010kso.2_Missense_Mutation_p.A955V|SDK1_uc003smy.2_Missense_Mutation_p.A186V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1699					cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCGGCGAGGCTGGTAAGCTC	0.622000												
KIAA0415	9907	broad.mit.edu	37	7	4821214	4821214	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4821214C>T	uc003sne.2	+	3	278	c.195C>T	c.(193-195)TGC>TGT	p.C65C	KIAA0415_uc010ksp.2_RNA	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	65					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		AGAAGACATGCGTAGACCTGC	0.682000												
MMD2	221938	broad.mit.edu	37	7	4947179	4947179	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:4947179G>T	uc003sno.3	-	7	857	c.661C>A	c.(661-663)CTG>ATG	p.L221M	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.L197M|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	221	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)		ACCATGCCCAGGCAGTAGAAG	0.587000												
FBXL18	80028	broad.mit.edu	37	7	5541068	5541068	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:5541068C>T	uc003soo.2	-	3	926	c.832G>A	c.(832-834)GCC>ACC	p.A278T	FBXL18_uc003son.3_Missense_Mutation_p.A278T	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	278										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTCTTGGTGGCGCCGCTCTCC	0.642000												
FBXL18	80028	broad.mit.edu	37	7	5541070	5541070	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:5541070C>G	uc003soo.2	-	3	924	c.830G>C	c.(829-831)GGC>GCC	p.G277A	FBXL18_uc003son.3_Missense_Mutation_p.G277A	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	277										central_nervous_system(2)|ovary(1)	3		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTTGGTGGCGCCGCTCTCCGC	0.647000												
AIMP2	7965	broad.mit.edu	37	7	6063002	6063002	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:6063002C>T	uc003spo.2	+	4	756	c.643C>T	c.(643-645)CGT>TGT	p.R215C	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	215	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						GAACATTGCACGTTTCTTGTT	0.458000												
USP42	84132	broad.mit.edu	37	7	6193579	6193579	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:6193579C>T	uc011jwo.1	+	15	2517	c.2394C>T	c.(2392-2394)CCC>CCT	p.P798P	USP42_uc011jwp.1_Silent_p.P798P|USP42_uc011jwq.1_Silent_p.P605P|USP42_uc011jwr.1_Silent_p.P643P	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	798	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(2)|ovary(1)|pancreas(1)|breast(1)	5		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CCGTCGCCCCCGAGGAGCCTC	0.721000												
THSD7A	221981	broad.mit.edu	37	7	11445994	11445994	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:11445994G>A	uc003ssf.3	-	21	4422	c.4170C>T	c.(4168-4170)GAC>GAT	p.D1390D		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1390	TSP type-1 14.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGAGTTCAATGTCAGCACAGA	0.428000										HNSCC(18;0.044)		
THSD7A	221981	broad.mit.edu	37	7	11464332	11464332	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:11464332C>T	uc003ssf.3	-	15	3626	c.3374G>A	c.(3373-3375)CGA>CAA	p.R1125Q		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1125	TSP type-1 11.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCACTTTTCGGGTTTGCAC	0.483000										HNSCC(18;0.044)		
MEOX2	4223	broad.mit.edu	37	7	15725656	15725656	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:15725656C>T	uc003stc.2	-	1	653	c.372G>A	c.(370-372)CCG>CCA	p.P124P	MEOX2_uc011jxw.1_Silent_p.P124P	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	124					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ACAGGACGGGCGGGCTGCTCC	0.716000												
TWIST1	7291	broad.mit.edu	37	7	19156656	19156656	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:19156656C>T	uc003sum.2	-	1	640	c.289G>A	c.(289-291)GGC>AGC	p.G97S		NM_000474	NP_000465	Q15672	TWST1_HUMAN	twist	97	Gly-rich.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0						GGACTCccgccgccgctgctg	0.512000									Saethre-Chotzen_syndrome			
ABCB5	340273	broad.mit.edu	37	7	20767944	20767944	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:20767944C>T	uc003suw.3	+	14	1944	c.1398C>T	c.(1396-1398)ACC>ACT	p.T466T	ABCB5_uc010kuh.2_Silent_p.T911T|ABCB5_uc003sux.1_Silent_p.T89T	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	466	Cytoplasmic (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						CCAGAAATACCTCGAAGAAAG	0.348000												
CDCA7L	55536	broad.mit.edu	37	7	21985416	21985416	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:21985416A>G	uc010kuk.2	-	1	127	c.7T>C	c.(7-9)TTG>CTG	p.L3L	CDCA7L_uc003sve.3_5'UTR|CDCA7L_uc010kul.2_Silent_p.L3L|CDCA7L_uc003svf.3_Silent_p.L3L|CDCA7L_uc011jyk.1_Silent_p.L3L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	3					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0						CGAGTCGCCAACTCCATTCTT	0.706000												
IGF2BP3	10643	broad.mit.edu	37	7	23352017	23352017	+	Silent	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:23352017A>T	uc003swg.2	-	15	1970	c.1704T>A	c.(1702-1704)GCT>GCA	p.A568A	IGF2BP3_uc003swf.2_Silent_p.A187A	NM_006547	NP_006538	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding	568					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			ovary(2)	2						CACTTTGCAGAGCCTTCTGTT	0.458000												
TRIL	9865	broad.mit.edu	37	7	28996376	28996376	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:28996376C>T	uc003szt.2	-	3	1654	c.1287G>A	c.(1285-1287)CGG>CGA	p.R429R	uc003szu.1_5'Flank	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine rich repeats	429	Extracellular (Potential).				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding				0						GTAGGGGCTGCCGCCTGCGGT	0.667000												
NOD1	10392	broad.mit.edu	37	7	30492472	30492472	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:30492472G>T	uc003tav.2	-	6	1084	c.561C>A	c.(559-561)ACC>ACA	p.T187T	NOD1_uc010kvs.2_Silent_p.T187T	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	187					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						GGATGCCGGTGGTGTGGTCCA	0.602000												
NOD1	10392	broad.mit.edu	37	7	30492520	30492520	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:30492520A>G	uc003tav.2	-	6	1036	c.513T>C	c.(511-513)AAT>AAC	p.N171N	NOD1_uc010kvs.2_Silent_p.N171N	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	171					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						CCAGGCTCTCATTGCTGAAGC	0.587000												
CRHR2	1395	broad.mit.edu	37	7	30695543	30695543	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:30695543C>A	uc003tbn.2	-	9	1161	c.917G>T	c.(916-918)AGG>ATG	p.R306M	CRHR2_uc010kvw.1_Missense_Mutation_p.R306M|CRHR2_uc010kvx.1_Missense_Mutation_p.R305M|CRHR2_uc010kvy.1_Missense_Mutation_p.R142M|CRHR2_uc003tbo.2_Missense_Mutation_p.R292M|CRHR2_uc003tbp.2_Missense_Mutation_p.R333M	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	306	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						CCTCACATACCTGTACTGGAT	0.582000												
SEPT7	989	broad.mit.edu	37	7	35913333	35913333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:35913333C>T	uc010kxc.2	+	5	653	c.460C>T	c.(460-462)CCT>TCT	p.P154S	SEPT7_uc011kat.1_Missense_Mutation_p.P153S|SEPT7_uc011kau.1_Missense_Mutation_p.P118S|SEPT7_uc011kav.1_Missense_Mutation_p.P101S|SEPT7_uc003tey.2_Missense_Mutation_p.P2S	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	cell division cycle 10 isoform 1	154					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity				0						ACGTCAGATGCCTGATAACAG	0.403000												
EEPD1	80820	broad.mit.edu	37	7	36193947	36193947	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:36193947T>C	uc003tfa.2	+	2	654	c.14T>C	c.(13-15)CTG>CCG	p.L5P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	5					DNA repair		DNA binding				0						GGGAGCACCCTGGGCTGCCAC	0.627000												
HECW1	23072	broad.mit.edu	37	7	43506151	43506151	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43506151T>C	uc003tid.1	+	15	3502	c.2897T>C	c.(2896-2898)GTG>GCG	p.V966A	HECW1_uc011kbi.1_Missense_Mutation_p.V932A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	966					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						TTCTTCACTGTGCTACATGCC	0.493000												
HECW1	23072	broad.mit.edu	37	7	43590143	43590143	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43590143C>T	uc003tid.1	+	27	4953	c.4348C>T	c.(4348-4350)CGC>TGC	p.R1450C	HECW1_uc011kbi.1_Missense_Mutation_p.R1416C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1450	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCGGGTGGAGCGCGGCGTGGT	0.627000												
HECW1	23072	broad.mit.edu	37	7	43590149	43590149	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43590149G>A	uc003tid.1	+	27	4959	c.4354G>A	c.(4354-4356)GTG>ATG	p.V1452M	HECW1_uc011kbi.1_Missense_Mutation_p.V1418M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1452	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGAGCGCGGCGTGGTACAGCA	0.632000												
BLVRA	644	broad.mit.edu	37	7	43843448	43843448	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:43843448T>C	uc003tir.2	+	7	715	c.632_splice	c.e7+2	p.S211_splice	BLVRA_uc010kxv.2_Splice_Site_p.S211_splice	NM_000712	NP_000703	P53004	BIEA_HUMAN	biliverdin reductase A precursor						heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			ovary(1)	1					NADH(DB00157)	GAAGAAAAGGTAAGTCATGAG	0.478000												
OGDH	4967	broad.mit.edu	37	7	44713507	44713507	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:44713507G>A	uc003tln.2	+	6	864	c.755G>A	c.(754-756)CGG>CAG	p.R252Q	OGDH_uc003tlm.2_Missense_Mutation_p.R252Q|OGDH_uc011kbx.1_Missense_Mutation_p.R248Q|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Missense_Mutation_p.R263Q|OGDH_uc011kbz.1_Intron|OGDH_uc003tlo.1_Missense_Mutation_p.R85Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN	oxoglutarate dehydrogenase isoform 1 precursor	252					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			upper_aerodigestive_tract(1)|ovary(1)	2					NADH(DB00157)	GAGGAGAAACGGACCCTGCTG	0.577000												
ASL	435	broad.mit.edu	37	7	65554148	65554148	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:65554148C>T	uc003tuo.2	+	12	1015	c.904C>T	c.(904-906)CGT>TGT	p.R302C	ASL_uc003tup.2_Missense_Mutation_p.R302C|ASL_uc003tur.2_Missense_Mutation_p.R276C|ASL_uc003tuq.2_Missense_Mutation_p.R302C	NM_000048	NP_000039	P04424	ARLY_HUMAN	argininosuccinate lyase isoform 1	302					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(2)	2					L-Arginine(DB00125)	CAAGGCTGGGCGTGTGTTTGG	0.682000												
TYW1	55253	broad.mit.edu	37	7	66703392	66703392	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:66703392G>A	uc003tvn.2	+	16	2224	c.2075G>A	c.(2074-2076)AGC>AAC	p.S692N	TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Missense_Mutation_p.S306N|PMS2L4_uc003tvo.2_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	692					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				AAAACGTTCAGCGCAAAGGAT	0.438000												
BAZ1B	9031	broad.mit.edu	37	7	72892597	72892597	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:72892597A>G	uc003tyc.2	-	7	1539	c.1194T>C	c.(1192-1194)AGT>AGC	p.S398S		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	398	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGGCTTGTCACTGTGCTTCC	0.448000												
WBSCR22	114049	broad.mit.edu	37	7	73108001	73108001	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:73108001T>C	uc003tyt.2	+	9	700	c.642_splice	c.e9+2	p.E214_splice	WBSCR22_uc010lbi.1_Splice_Site|WBSCR22_uc003tyu.2_Splice_Site_p.E214_splice|WBSCR22_uc003tyv.2_Splice_Site_p.E176_splice|WBSCR22_uc003tyw.1_Splice_Site_p.E77_splice	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22							nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATACCAGAGGTGAGGGACACT	0.562000												
WBSCR27	155368	broad.mit.edu	37	7	73256349	73256349	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:73256349T>C	uc003tzj.2	-	2	162	c.122A>G	c.(121-123)CAG>CGG	p.Q41R	RFC2_uc011kfa.1_Intron|WBSCR27_uc011kfd.1_Missense_Mutation_p.Q41R	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Williams-Beuren syndrome chromosome region 27	41										central_nervous_system(1)	1		Lung NSC(55;0.159)				TGAGTTTACCTGGTCGTAGTC	0.438000												
CLIP2	7461	broad.mit.edu	37	7	73790690	73790690	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:73790690G>T	uc003uam.2	+	10	2286	c.1959G>T	c.(1957-1959)ATG>ATT	p.M653I	CLIP2_uc003uan.2_Missense_Mutation_p.M618I|CLIP2_uc003uao.2_Missense_Mutation_p.M47I	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	653						microtubule associated complex				skin(3)	3						AGGCAGTGATGGAGGGCATCA	0.627000												
CCDC146	57639	broad.mit.edu	37	7	76909865	76909865	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:76909865A>G	uc003uga.2	+	14	1941	c.1814A>G	c.(1813-1815)CAG>CGG	p.Q605R	CCDC146_uc010ldp.2_Missense_Mutation_p.Q319R|CCDC146_uc003ugc.2_5'Flank	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	605	Potential.									ovary(1)|central_nervous_system(1)	2		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAGGAAGCCCAGTTAAATAAC	0.408000												
MAGI2	9863	broad.mit.edu	37	7	77764449	77764449	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:77764449G>A	uc003ugx.2	-	17	3174	c.2920C>T	c.(2920-2922)CGG>TGG	p.R974W	MAGI2_uc003ugy.2_Missense_Mutation_p.R960W|MAGI2_uc010ldx.1_Missense_Mutation_p.R567W	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	974	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCTAGGATCCGGTCTCCCACT	0.483000												
SEMA3E	9723	broad.mit.edu	37	7	83036496	83036496	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:83036496C>T	uc003uhy.1	-	7	1196	c.730G>A	c.(730-732)GTA>ATA	p.V244I		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	244	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				AAGAAATATACTTTGTTGTCA	0.393000												
SEMA3E	9723	broad.mit.edu	37	7	83119550	83119550	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:83119550A>G	uc003uhy.1	-	2	622	c.156T>C	c.(154-156)CCT>CCC	p.P52P		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)				GAAATCCAAAAGGGCTATGAA	0.408000												
ABCB1	5243	broad.mit.edu	37	7	87179212	87179212	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:87179212A>C	uc003uiz.1	-	14	1927	c.1509T>G	c.(1507-1509)GCT>GCG	p.A503A	ABCB1_uc011khc.1_Silent_p.A439A	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	503	ABC transporter 1.|Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTCCTTGACAGCTTTCTCAA	0.443000												
AKAP9	10142	broad.mit.edu	37	7	91645570	91645570	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:91645570A>T	uc003ulg.2	+	11	3965	c.3740A>T	c.(3739-3741)TAT>TTT	p.Y1247F	AKAP9_uc003ule.2_Missense_Mutation_p.Y1259F|AKAP9_uc003ulf.2_Missense_Mutation_p.Y1247F|AKAP9_uc003uli.2_Missense_Mutation_p.Y872F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1259	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GATTATAGATATGAAGTTCAA	0.264000			T	BRAF	papillary thyroid							
COL1A2	1278	broad.mit.edu	37	7	94029571	94029571	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:94029571G>T	uc003ung.1	+	5	667	c.196G>T	c.(196-198)GGT>TGT	p.G66C	COL1A2_uc011kib.1_Missense_Mutation_p.G66C	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	66					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCACCTGGTCCTCCTGG	0.502000										HNSCC(75;0.22)		
TRRAP	8295	broad.mit.edu	37	7	98550975	98550975	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:98550975C>G	uc003upp.2	+	39	5837	c.5628C>G	c.(5626-5628)GAC>GAG	p.D1876E	TRRAP_uc011kis.1_Missense_Mutation_p.D1858E|TRRAP_uc003upr.2_Missense_Mutation_p.D1575E	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1876					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTGCGTGGACCCAGCCTGCA	0.587000												
PTCD1	26024	broad.mit.edu	37	7	99032621	99032621	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:99032621T>C	uc003uqh.2	-	2	376	c.245A>G	c.(244-246)GAC>GGC	p.D82G	PTCD1_uc011kiw.1_Missense_Mutation_p.D131G	NM_015545	NP_056360	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	82										ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTCCTCGTCTTCTTCCTG	0.607000												
GPC2	221914	broad.mit.edu	37	7	99769744	99769744	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:99769744T>C	uc003utv.2	-	6	1157	c.989A>G	c.(988-990)TAC>TGC	p.Y330C	GPC2_uc010lgr.2_RNA	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	glypican 2 precursor	330						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|pancreas(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCCTGCAGGTACATCAAACC	0.597000												
PVRIG	79037	broad.mit.edu	37	7	99818563	99818563	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:99818563G>A	uc003uue.2	+	7	1042	c.670G>A	c.(670-672)GCC>ACC	p.A224T	GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|GATS_uc011kjl.1_Intron|GATS_uc010lgu.2_Intron|PVRIG_uc003uuf.1_Missense_Mutation_p.A224T	NM_024070	NP_076975	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin	224						integral to membrane				skin(2)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCAAGCCAGGCCTCCCAGGC	0.667000												
C7orf51	222950	broad.mit.edu	37	7	100084511	100084511	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100084511G>A	uc003uvd.1	+	3	295	c.136G>A	c.(136-138)GTG>ATG	p.V46M	C7orf51_uc003uve.1_5'Flank	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	46										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGTCCGCGTGCGGGACAT	0.726000												
MOSPD3	64598	broad.mit.edu	37	7	100212592	100212592	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100212592G>A	uc003uvq.2	+	5	816	c.614G>A	c.(613-615)AGC>AAC	p.S205N	MOSPD3_uc003uvr.2_Missense_Mutation_p.S205N|MOSPD3_uc003uvs.2_Missense_Mutation_p.S205N|MOSPD3_uc003uvt.2_Missense_Mutation_p.S195N	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN	motile sperm domain containing 3 isoform a	205						integral to membrane	structural molecule activity			ovary(2)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAACTCGGCAGCCAGCTGCCT	0.637000												
ZAN	7455	broad.mit.edu	37	7	100369551	100369551	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100369551A>G	uc003uwj.2	+	29	5498	c.5333A>G	c.(5332-5334)GAC>GGC	p.D1778G	ZAN_uc003uwk.2_Missense_Mutation_p.D1778G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.D355G|ZAN_uc011kke.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1778	Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCAAGGGCGACACCACAGCC	0.637000												
ACHE	43	broad.mit.edu	37	7	100491090	100491090	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100491090C>A	uc003uxd.2	-	1	920	c.764G>T	c.(763-765)AGG>ATG	p.R255M	ACHE_uc003uxe.2_Missense_Mutation_p.R255M|ACHE_uc003uxf.2_Missense_Mutation_p.R255M|ACHE_uc003uxg.2_Missense_Mutation_p.R255M|ACHE_uc003uxh.2_Missense_Mutation_p.R255M|ACHE_uc003uxi.2_Missense_Mutation_p.R255M|ACHE_uc003uxj.1_Missense_Mutation_p.R374M	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	255					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CAGCACGGCCCTGTGGAACAG	0.721000												
ORAI2	80228	broad.mit.edu	37	7	102087351	102087351	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:102087351C>A	uc010lhz.1	+	4	852	c.617C>A	c.(616-618)CCC>CAC	p.P206H	ORAI2_uc003uzj.2_Missense_Mutation_p.P206H|ORAI2_uc003uzk.2_Missense_Mutation_p.P206H|ORAI2_uc011kks.1_Missense_Mutation_p.P129H	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	206	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|kidney(1)	2						ATCATGGTGCCCGTGGGCCTC	0.667000												
LRWD1	222229	broad.mit.edu	37	7	102106383	102106383	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:102106383G>A	uc003uzn.2	+	2	338	c.200G>A	c.(199-201)GGC>GAC	p.G67D	ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain	67	LRR 2.				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			skin(1)	1						GACAACCTGGGCCTGTCCCAC	0.632000												
RELN	5649	broad.mit.edu	37	7	103123374	103123374	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:103123374C>T	uc003vca.2	-	63	10386	c.10226G>A	c.(10225-10227)CGC>CAC	p.R3409H	RELN_uc010liz.2_Missense_Mutation_p.R3409H	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3409					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCATTGTGGCGTGGTTGCCA	0.478000												
LHFPL3	375612	broad.mit.edu	37	7	103969331	103969331	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:103969331C>T	uc003vce.2	+	1	228	c.104C>T	c.(103-105)GCC>GTC	p.A35V	LHFPL3_uc003vcf.2_Missense_Mutation_p.A35V	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	21						integral to membrane					0						AACTCGCGGGCCATCGGCGTG	0.527000												
COG5	10466	broad.mit.edu	37	7	106876963	106876963	+	Missense_Mutation	SNP	G	G	A	rs149517266	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:106876963G>A	uc003ved.2	-	17	2578	c.2053C>T	c.(2053-2055)CGC>TGC	p.R685C	COG5_uc003vec.2_Missense_Mutation_p.R706C|COG5_uc003vee.2_Missense_Mutation_p.R706C	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	685					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						CTGGCATGGCGGATAAAAAGT	0.393000												
LRRN3	54674	broad.mit.edu	37	7	110762969	110762969	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:110762969T>C	uc003vft.3	+	4	1187	c.141T>C	c.(139-141)TAT>TAC	p.Y47Y	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.Y47Y|LRRN3_uc003vfs.3_Silent_p.Y47Y	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	47	Extracellular (Potential).|LRRNT.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GATCCATTTATATGGAAGCAT	0.393000												
TES	26136	broad.mit.edu	37	7	115890281	115890281	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:115890281T>A	uc003vho.2	+	4	614	c.433T>A	c.(433-435)TAC>AAC	p.Y145N	TES_uc011kmy.1_Intron|TES_uc003vhp.2_Missense_Mutation_p.Y136N|uc003vhq.1_5'Flank	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	testin isoform 1	145	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding				0	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GGGGGCACAGTACCGGAAGAA	0.547000												
KCND2	3751	broad.mit.edu	37	7	120385856	120385856	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:120385856A>G	uc003vjj.1	+	5	2455	c.1490A>G	c.(1489-1491)CAA>CGA	p.Q497R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	497	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					GTGGACGAACAAGTCTTTGAA	0.388000												
RNF148	378925	broad.mit.edu	37	7	122342486	122342486	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:122342486G>A	uc003vkk.1	-	1	536	c.319C>T	c.(319-321)CGT>TGT	p.R107C	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF148_uc010lkr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	107	PA.					integral to membrane	zinc ion binding				0						CAGCCTCCACGTTCGATGAGG	0.483000												
PAX4	5078	broad.mit.edu	37	7	127251690	127251690	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:127251690A>G	uc010lld.1	-	8	994	c.788T>C	c.(787-789)CTG>CCG	p.L263P	PAX4_uc003vmf.2_Missense_Mutation_p.L261P|PAX4_uc003vmg.1_Missense_Mutation_p.L263P	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	271					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CAGTGGTTCCAGGGCAGGCAG	0.562000												
CALD1	800	broad.mit.edu	37	7	134618718	134618718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:134618718C>T	uc003vrz.2	+	5	1657	c.1198C>T	c.(1198-1200)CAA>TAA	p.Q400*	CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Nonsense_Mutation_p.Q264*	NM_033138	NP_149129	Q05682	CALD1_HUMAN	caldesmon 1 isoform 1	400					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0						ACATGCCATGCAAGAGACAAA	0.393000												
DENND2A	27147	broad.mit.edu	37	7	140223218	140223218	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:140223218C>T	uc010lnj.2	-	15	2699	c.2554G>A	c.(2554-2556)GAT>AAT	p.D852N	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.D852N|DENND2A_uc003vvw.2_Missense_Mutation_p.D852N	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	852										ovary(3)|breast(1)	4	Melanoma(164;0.00956)					GAGTCCTCATCGTCCATCTGG	0.607000												
OR2A5	393046	broad.mit.edu	37	7	143748294	143748294	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:143748294C>A	uc011ktw.1	+	1	800	c.800C>A	c.(799-801)CCT>CAT	p.P267H		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A,	267	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Melanoma(164;0.0783)					TCCCGCCACCCTGAGGAGCAG	0.567000												
ZNF777	27153	broad.mit.edu	37	7	149129956	149129956	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149129956C>T	uc003wfv.2	-	6	1570	c.1407G>A	c.(1405-1407)CCG>CCA	p.P469P		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCAAGTGCTGCGGCAGctcat	0.517000												
KRBA1	84626	broad.mit.edu	37	7	149430469	149430469	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149430469C>T	uc003wfz.2	+	18	2825	c.2426C>T	c.(2425-2427)GCC>GTC	p.A809V	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.A416V	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	809	Potential.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCGGTGCTGCCCTTGCGGAG	0.692000												
KRBA1	84626	broad.mit.edu	37	7	149430489	149430489	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149430489C>T	uc003wfz.2	+	18	2845	c.2446C>T	c.(2446-2448)CGG>TGG	p.R816W	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.R423W	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	816	Potential.									ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAAGCTGGATCGGCTCGCCAC	0.687000												
SSPO	23145	broad.mit.edu	37	7	149509077	149509077	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149509077G>A	uc010lpk.2	+	69	9623	c.9623G>A	c.(9622-9624)CGG>CAG	p.R3208Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3208	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATCGGCACCGGTTCTGTGCC	0.687000												
ZNF862	643641	broad.mit.edu	37	7	149559064	149559064	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149559064G>A	uc010lpn.2	+	7	3007	c.2815G>A	c.(2815-2817)GAC>AAC	p.D939N	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						GTTTGACGCAGACCGACCCCC	0.547000												
REPIN1	29803	broad.mit.edu	37	7	150069094	150069094	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150069094G>A	uc010lpq.1	+	4	1253	c.764G>A	c.(763-765)CGC>CAC	p.R255H	REPIN1_uc003whd.2_Missense_Mutation_p.R244H|REPIN1_uc010lpr.1_Missense_Mutation_p.R312H|REPIN1_uc003whc.2_Missense_Mutation_p.R255H|REPIN1_uc003whe.2_Missense_Mutation_p.R255H	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	255	C2H2-type 6.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ATCGCTCACCGCCGCGTGCAC	0.592000												
GIMAP8	155038	broad.mit.edu	37	7	150174636	150174636	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150174636G>A	uc003whj.2	+	5	2096	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	589						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.R589H(1)		skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCCCTTCGGCGCATTTTTAAA	0.458000												
NOS3	4846	broad.mit.edu	37	7	150698665	150698665	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150698665A>G	uc003wif.2	+	12	1758	c.1462A>G	c.(1462-1464)ACC>GCC	p.T488A	NOS3_uc011kuy.1_Missense_Mutation_p.T282A|NOS3_uc011kuz.1_Missense_Mutation_p.T488A|NOS3_uc011kva.1_Missense_Mutation_p.T488A|NOS3_uc011kvb.1_Missense_Mutation_p.T488A	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	488					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGCCAAGGGCACCGGCATCAC	0.627000												
SLC4A2	6522	broad.mit.edu	37	7	150771577	150771577	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150771577T>C	uc003wit.3	+	18	3136	c.2880_splice	c.e18+2	p.Q960_splice	SLC4A2_uc011kve.1_Splice_Site_p.Q951_splice|SLC4A2_uc003wiu.3_Splice_Site_p.Q946_splice|SLC4A2_uc003wiv.3_Splice_Site_p.Q154_splice	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member						bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATACCCAGGTAAGGTGCTGC	0.587000												
ASB10	136371	broad.mit.edu	37	7	150878271	150878271	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150878271C>T	uc003wjm.1	-	3	1120	c.994G>A	c.(994-996)GCT>ACT	p.A332T	ASB10_uc003wjl.1_Missense_Mutation_p.A332T|ASB10_uc003wjn.1_Missense_Mutation_p.A272T	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	287	ANK 5.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCATCAGCGTCTGCTCCA	0.677000												
MLL3	58508	broad.mit.edu	37	7	151884806	151884806	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:151884806T>C	uc003wla.2	-	32	5006	c.4787A>G	c.(4786-4788)GAT>GGT	p.D1596G	MLL3_uc003wkz.2_Missense_Mutation_p.D657G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1596					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTACCTGGCATCAGGATAAGA	0.368000			N		medulloblastoma							
RBM33	155435	broad.mit.edu	37	7	155537713	155537713	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:155537713G>A	uc010lqk.1	+	14	2764	c.2396G>A	c.(2395-2397)CGC>CAC	p.R799H	RBM33_uc011kvv.1_Missense_Mutation_p.R608H|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	799	Potential.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GAACAGAAACGCCTAAGAGAA	0.463000												
ESYT2	57488	broad.mit.edu	37	7	158529777	158529777	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:158529777G>A	uc003wob.1	-	19	2508	c.2442C>T	c.(2440-2442)CAC>CAT	p.H814H	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Silent_p.H253H|ESYT2_uc003woa.1_Silent_p.H391H	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	842	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TCTTTGACACGTGTGTTTTCC	0.453000												
ARHGEF10	9639	broad.mit.edu	37	8	1905280	1905280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:1905280C>T	uc003wpr.2	+	29	4064	c.3886C>T	c.(3886-3888)CGC>TGC	p.R1296C	ARHGEF10_uc003wps.2_Missense_Mutation_p.R1258C|ARHGEF10_uc010lre.2_Missense_Mutation_p.R947C	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	1321					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAGCAAAGCACGCCGGGCCAA	0.627000												
CSMD1	64478	broad.mit.edu	37	8	2857534	2857534	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:2857534C>T	uc011kwk.1	-	53	8542	c.8152G>A	c.(8152-8154)GTG>ATG	p.V2718M	CSMD1_uc011kwj.1_Missense_Mutation_p.V2047M|CSMD1_uc010lrg.2_Missense_Mutation_p.V728M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2718	Extracellular (Potential).|Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATATCCTCACGGAAGTTCCC	0.507000												
CSMD1	64478	broad.mit.edu	37	8	3046507	3046507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:3046507G>A	uc011kwk.1	-	35	5818	c.5428C>T	c.(5428-5430)CGA>TGA	p.R1810*	CSMD1_uc011kwj.1_Nonsense_Mutation_p.R1202*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.R966*|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1810	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTACCTCTTCGTTGAGTGAAA	0.453000												
TUSC3	7991	broad.mit.edu	37	8	15605939	15605939	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:15605939A>G	uc003wwt.2	+	9	1203	c.993A>G	c.(991-993)TCA>TCG	p.S331S	TUSC3_uc003wwu.2_Silent_p.S331S|TUSC3_uc003wwv.2_Silent_p.S331S|TUSC3_uc003www.2_Intron|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	331	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)		TTCTACTTTCAATATTTCGTT	0.328000												
EPB49	2039	broad.mit.edu	37	8	21938932	21938932	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:21938932G>A	uc011kyt.1	+	15	1405	c.1176G>A	c.(1174-1176)CTG>CTA	p.L392L	EPB49_uc010ltl.2_Silent_p.L370L|EPB49_uc010ltn.2_Silent_p.L345L|EPB49_uc011kyu.1_Silent_p.L392L|EPB49_uc011kyv.1_Silent_p.L392L|EPB49_uc010ltq.2_Silent_p.L370L	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	392	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AGCTGGCTCTGTGGAAGCGGA	0.587000												
PIWIL2	55124	broad.mit.edu	37	8	22210607	22210607	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:22210607A>G	uc003xbn.2	+	21	2687	c.2539A>G	c.(2539-2541)ATG>GTG	p.M847V	PIWIL2_uc011kzf.1_Missense_Mutation_p.M847V|PIWIL2_uc010ltv.2_Missense_Mutation_p.M847V|PIWIL2_uc003xbo.2_Missense_Mutation_p.M1V	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	piwi-like 2	847	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			skin(1)	1				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TCAGCCCAAGATGGTGGTGTT	0.428000												
RHOBTB2	23221	broad.mit.edu	37	8	22863501	22863501	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:22863501A>G	uc003xcq.2	+	4	862	c.325A>G	c.(325-327)ATT>GTT	p.I109V	RHOBTB2_uc003xcp.2_Missense_Mutation_p.I131V|RHOBTB2_uc011kzp.1_Missense_Mutation_p.I116V	NM_015178	NP_055993	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2 isoform 3	109	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			ovary(1)|lung(1)	2		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GTGCTTCTCCATTGCCAACCC	0.542000												
ESCO2	157570	broad.mit.edu	37	8	27657117	27657117	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:27657117T>C	uc003xgg.2	+	10	1640	c.1557T>C	c.(1555-1557)CCT>CCC	p.P519P	ESCO2_uc010luy.1_RNA	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	519					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CGGAATGTCCTAGGGCTTGGC	0.463000									SC_Phocomelia_syndrome			
SCARA5	286133	broad.mit.edu	37	8	27764668	27764668	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:27764668T>C	uc003xgj.2	-	6	1533	c.1093A>G	c.(1093-1095)AAA>GAA	p.K365E	SCARA5_uc010luz.2_Missense_Mutation_p.K140E|SCARA5_uc003xgk.2_Missense_Mutation_p.K322E|SCARA5_uc003xgl.2_Missense_Mutation_p.K365E	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	365	Collagen-like.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TTATTACCTTTGAACCCACGC	0.468000												
FZD3	7976	broad.mit.edu	37	8	28360587	28360587	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:28360587T>C	uc003xgx.2	+	3	535	c.57T>C	c.(55-57)CAT>CAC	p.H19H	FZD3_uc010lvb.2_Silent_p.H19H	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	19					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCATGGGGCATATAGGTGGGC	0.428000												
WRN	7486	broad.mit.edu	37	8	30948393	30948393	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:30948393A>G	uc003xio.3	+	15	2552	c.1764A>G	c.(1762-1764)GTA>GTG	p.V588V	WRN_uc010lvk.2_Silent_p.V55V	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	588	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGTTTATGTAGGCAAGATTG	0.313000			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
BAG4	9530	broad.mit.edu	37	8	38034486	38034486	+	Silent	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:38034486T>G	uc003xky.1	+	1	381	c.99T>G	c.(97-99)CCT>CCG	p.P33P	LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Silent_p.P33P	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	33					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			ovary(1)	1	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TACACCCACCTCCACCCTTAT	0.701000												
C8orf4	56892	broad.mit.edu	37	8	40011203	40011203	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:40011203T>C	uc003xnq.1	+	1	215	c.152T>C	c.(151-153)CTC>CCC	p.L51P		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	thyroid cancer-1	51					apoptosis					ovary(1)	1	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		CTAGAAAGGCTCTTCAGAAAC	0.488000												
ANK1	286	broad.mit.edu	37	8	41551573	41551573	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41551573C>A	uc003xok.2	-	29	3459	c.3375G>T	c.(3373-3375)CAG>CAT	p.Q1125H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.Q441H|ANK1_uc003xoi.2_Missense_Mutation_p.Q1125H|ANK1_uc003xoj.2_Missense_Mutation_p.Q1125H|ANK1_uc003xol.2_Missense_Mutation_p.Q1125H|ANK1_uc003xom.2_Missense_Mutation_p.Q1166H	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1125					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGAATGTGGCCTGGTTGCCCA	0.622000												
ANK1	286	broad.mit.edu	37	8	41554007	41554007	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41554007G>A	uc003xok.2	-	26	2918	c.2834C>T	c.(2833-2835)GCG>GTG	p.A945V	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.A261V|ANK1_uc003xoi.2_Missense_Mutation_p.A945V|ANK1_uc003xoj.2_Missense_Mutation_p.A945V|ANK1_uc003xol.2_Missense_Mutation_p.A945V|ANK1_uc003xom.2_Missense_Mutation_p.A986V	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	945	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGGGTGGGCGCTGCGCACGT	0.667000												
ANK1	286	broad.mit.edu	37	8	41563684	41563684	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41563684C>T	uc003xok.2	-	18	2158	c.2074G>A	c.(2074-2076)GTC>ATC	p.V692I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_5'UTR|ANK1_uc003xoi.2_Missense_Mutation_p.V692I|ANK1_uc003xoj.2_Missense_Mutation_p.V692I|ANK1_uc003xol.2_Missense_Mutation_p.V692I|ANK1_uc003xom.2_Missense_Mutation_p.V725I	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	692	ANK 20.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCACCATGACGCCGTGTTTG	0.537000												
ANK1	286	broad.mit.edu	37	8	41753956	41753956	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:41753956C>T	uc003xom.2	-	1	325	c.43G>A	c.(43-45)GAG>AAG	p.E15K		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	ankyrin 1 isoform 9	Error:Variant_position_missing_in_P16157_after_alignment					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCTGCGCCTCGATGTCTTTG	0.637000												
AP3M2	10947	broad.mit.edu	37	8	42019916	42019916	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:42019916A>G	uc003xop.2	+	5	854	c.563A>G	c.(562-564)GAT>GGT	p.D188G	AP3M2_uc003xoo.2_Missense_Mutation_p.D188G|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Missense_Mutation_p.D73G|AP3M2_uc003xor.1_Missense_Mutation_p.D188G	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	188	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GAAGAGATTGATGCAATTATT	0.398000												
HGSNAT	138050	broad.mit.edu	37	8	43016647	43016647	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:43016647T>C	uc003xpx.3	+	5	608	c.560T>C	c.(559-561)TTG>TCG	p.L187S		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	215	Cytoplasmic (Potential).				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity				0	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGGCTCTTGTTGAGGTAAGAT	0.443000												
KIAA0146	23514	broad.mit.edu	37	8	48511574	48511574	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:48511574C>T	uc003xqd.2	+	10	1369	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C	KIAA0146_uc011lda.1_Missense_Mutation_p.R143C|KIAA0146_uc011ldb.1_Missense_Mutation_p.R454C|KIAA0146_uc010lxs.2_Intron|KIAA0146_uc011ldc.1_Missense_Mutation_p.R384C|KIAA0146_uc011ldd.1_Missense_Mutation_p.R394C|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.R143C|KIAA0146_uc010lxt.2_Missense_Mutation_p.R143C	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	454											0		Lung NSC(58;0.175)				AGCAAAACAGCGCATCCCAAC	0.567000												
MCM4	4173	broad.mit.edu	37	8	48887520	48887520	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:48887520C>T	uc003xqk.1	+	15	2458	c.2363C>T	c.(2362-2364)ACG>ATG	p.T788M	MCM4_uc003xql.1_Missense_Mutation_p.T788M|MCM4_uc011ldi.1_Missense_Mutation_p.T775M	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	788					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATTCTTACTACGGGTTCGTTA	0.398000												
SNAI2	6591	broad.mit.edu	37	8	49833799	49833799	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:49833799T>C	uc003xqp.2	-	1	190	c.26A>G	c.(25-27)AAG>AGG	p.K9R		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	9					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GTTGAAATGCTTCTTGACCAG	0.547000												
PXDNL	137902	broad.mit.edu	37	8	52384842	52384842	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:52384842C>T	uc003xqu.3	-	8	818	c.717G>A	c.(715-717)GAG>GAA	p.E239E		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	239	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATCCTGCGGCTCAAAAGTAA	0.423000												
OPRK1	4986	broad.mit.edu	37	8	54163341	54163341	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:54163341C>T	uc003xrh.1	-	1	632	c.257G>A	c.(256-258)CGA>CAA	p.R86Q	OPRK1_uc003xri.1_Missense_Mutation_p.R86Q|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	86	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCGCGCTCACCGGATGATCAC	0.682000												
SOX17	64321	broad.mit.edu	37	8	55372308	55372308	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:55372308C>T	uc003xsb.3	+	2	1202	c.998C>T	c.(997-999)CCG>CTG	p.P333L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	333	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCCGGACAGCCGTCGCCCCCT	0.512000												
RP1	6101	broad.mit.edu	37	8	55533545	55533545	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:55533545A>C	uc003xsd.1	+	2	167	c.19A>C	c.(19-21)ACT>CCT	p.T7P	RP1_uc011ldy.1_Missense_Mutation_p.T7P	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	7					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCCCTTCTACTGGTTTTTC	0.443000												
MOS	4342	broad.mit.edu	37	8	57026165	57026165	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:57026165C>T	uc011leb.1	-	1	377	c.377G>A	c.(376-378)CGC>CAC	p.R126H		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	126	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			TGCGGGCGTGCGCGTGCTGGC	0.607000												
DNAJC5B	85479	broad.mit.edu	37	8	66989015	66989015	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:66989015C>T	uc003xvs.1	+	4	531	c.240C>T	c.(238-240)TAC>TAT	p.Y80Y	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	80	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAAGCATATACGACAAGTACG	0.468000												
TRIM55	84675	broad.mit.edu	37	8	67039509	67039509	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:67039509C>T	uc003xvv.2	+	1	232	c.6C>T	c.(4-6)AGC>AGT	p.S2S	TRIM55_uc003xvu.2_Silent_p.S2S|TRIM55_uc003xvw.2_Silent_p.S2S|TRIM55_uc003xvx.2_Silent_p.S2S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	2						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGGAGATGAGCGCATCTCTGA	0.478000												
C8orf46	254778	broad.mit.edu	37	8	67405903	67405903	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:67405903G>T	uc003xwg.2	+	1	413	c.20G>T	c.(19-21)AGC>ATC	p.S7I	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.S7I	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	7										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAGATTTACAGCTGCAGTGAC	0.512000												
EYA1	2138	broad.mit.edu	37	8	72229819	72229819	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:72229819G>T	uc003xys.3	-	6	811	c.524C>A	c.(523-525)CCT>CAT	p.P175H	EYA1_uc003xyr.3_Missense_Mutation_p.P170H|EYA1_uc003xyt.3_Missense_Mutation_p.P142H|EYA1_uc010lzf.2_Missense_Mutation_p.P102H|EYA1_uc003xyu.2_Missense_Mutation_p.P175H|EYA1_uc011lfe.1_Missense_Mutation_p.P169H|EYA1_uc003xyv.2_Missense_Mutation_p.P53H	NM_172058	NP_742055	Q99502	EYA1_HUMAN	eyes absent 1 isoform b	175					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCTGTCCAGGTTGAGGGGT	0.458000												
MSC	9242	broad.mit.edu	37	8	72756328	72756328	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:72756328G>A	uc003xyx.1	-	1	404	c.86C>T	c.(85-87)CCG>CTG	p.P29L	uc011lff.1_Intron|uc003xyy.2_RNA	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	29					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GCGGAGGGGCGGCCTCTTGGA	0.706000												
TRPA1	8989	broad.mit.edu	37	8	72951992	72951992	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:72951992G>T	uc003xza.2	-	18	2277	c.2102C>A	c.(2101-2103)CCT>CAT	p.P701H	uc011lff.1_Intron|uc003xyy.2_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	701	Cytoplasmic (Potential).					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	TTTACACACAGGATGATTGAG	0.308000												
CRISPLD1	83690	broad.mit.edu	37	8	75898418	75898418	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:75898418T>A	uc003yan.2	+	2	571	c.196T>A	c.(196-198)TTG>ATG	p.L66M		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain	66						extracellular region				ovary(1)|central_nervous_system(1)	2	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAGAGTATTTTGGACCTTCA	0.393000												
HNF4G	3174	broad.mit.edu	37	8	76471265	76471265	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:76471265A>G	uc003yaq.2	+	9	1245	c.975A>G	c.(973-975)CTA>CTG	p.L325L	HNF4G_uc003yar.2_Silent_p.L362L	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	325					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGAAATGCTATTAGGTGGTG	0.323000												
ZFHX4	79776	broad.mit.edu	37	8	77763747	77763747	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:77763747G>A	uc003yav.2	+	10	4842	c.4455G>A	c.(4453-4455)ACG>ACA	p.T1485T	ZFHX4_uc003yau.1_Silent_p.T1530T|ZFHX4_uc003yaw.1_Silent_p.T1485T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1485						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAATTTTACGATGGAAAAAT	0.403000										HNSCC(33;0.089)		
PAG1	55824	broad.mit.edu	37	8	81892718	81892718	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:81892718T>C	uc003ybz.2	-	8	1599	c.888A>G	c.(886-888)TCA>TCG	p.S296S		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	296	Cytoplasmic (Potential).				epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGTATGACAATGAGCTAAATC	0.373000												
CNGB3	54714	broad.mit.edu	37	8	87679290	87679290	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:87679290G>A	uc003ydx.2	-	6	761	c.715C>T	c.(715-717)CGC>TGC	p.R239C	CNGB3_uc010maj.2_Missense_Mutation_p.R101C	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	239	Extracellular (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding	p.R239H(1)		ovary(2)|pancreas(1)	3						AAGACGAGGCGCAGTGGTATA	0.423000												
MMP16	4325	broad.mit.edu	37	8	89128810	89128810	+	Missense_Mutation	SNP	C	C	T	rs141858403		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:89128810C>T	uc003yeb.3	-	6	1291	c.1009G>A	c.(1009-1011)GGA>AGA	p.G337R	MMP16_uc003yec.2_Missense_Mutation_p.G337R	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	337	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GGTTTGGCTCCGGGATAGGAG	0.498000												
NBN	4683	broad.mit.edu	37	8	90983458	90983458	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:90983458C>T	uc003yej.1	-	6	755	c.645G>A	c.(643-645)CGG>CGA	p.R215R	NBN_uc003yei.1_Silent_p.R133R|NBN_uc011lgb.1_Silent_p.R215R	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	215					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TTCTTTCCTGCCGTCCTGACA	0.279000								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
CALB1	793	broad.mit.edu	37	8	91081413	91081413	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:91081413T>C	uc003yel.1	-	4	466	c.284A>G	c.(283-285)CAG>CGG	p.Q95R	CALB1_uc011lge.1_Missense_Mutation_p.Q38R	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	95						nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTCAGCTGCTGGCATCGGAA	0.393000												
NECAB1	64168	broad.mit.edu	37	8	91929826	91929826	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:91929826A>G	uc011lgg.1	+	6	658	c.464A>G	c.(463-465)GAA>GGA	p.E155G		NM_022351	NP_071746	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	155	Potential.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TGTGCCATGGAAACTACTGAG	0.393000												
PTDSS1	9791	broad.mit.edu	37	8	97316326	97316326	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:97316326A>C	uc003yht.1	+	7	913	c.811A>C	c.(811-813)AGC>CGC	p.S271R	PTDSS1_uc003yhu.1_Missense_Mutation_p.S125R	NM_014754	NP_055569	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	271					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			ovary(1)	1	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CACTCCTGCTAGCTGGACCTA	0.458000												
VPS13B	157680	broad.mit.edu	37	8	100443829	100443829	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100443829T>C	uc003yiv.2	+	22	3258	c.3147T>C	c.(3145-3147)CCT>CCC	p.P1049P	VPS13B_uc003yiw.2_Silent_p.P1049P|VPS13B_uc003yiu.1_Silent_p.P1049P|VPS13B_uc003yix.1_Silent_p.P519P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	1049					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTAGAAGTCCTGAAGAAAGAA	0.328000												
VPS13B	157680	broad.mit.edu	37	8	100832310	100832310	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100832310A>G	uc003yiv.2	+	49	9140	c.9029A>G	c.(9028-9030)CAG>CGG	p.Q3010R	VPS13B_uc003yiw.2_Missense_Mutation_p.Q2985R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3010					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGTTCTACAGGTTCCTGCT	0.348000												
RGS22	26166	broad.mit.edu	37	8	101083648	101083648	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:101083648A>G	uc003yjb.1	-	6	738	c.543T>C	c.(541-543)ACT>ACC	p.T181T	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Silent_p.T181T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	181					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATCTTCTTCAGTGGCAGGAG	0.393000												
KLF10	7071	broad.mit.edu	37	8	103663669	103663669	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:103663669C>T	uc011lhk.1	-	3	1045	c.891G>A	c.(889-891)CAG>CAA	p.Q297Q	KLF10_uc011lhj.1_Silent_p.Q286Q	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	297					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CGGCTGGTGGCTGGCTGGGAG	0.592000												
LRP12	29967	broad.mit.edu	37	8	105601124	105601124	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:105601124A>G	uc003yma.2	-	1	97	c.2T>C	c.(1-3)ATG>ACG	p.M1T	LRP12_uc003ymb.2_Missense_Mutation_p.M1T|LRP12_uc003ymc.3_Missense_Mutation_p.M1T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	1					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCGACAGGCCATAACCACAGC	0.373000												
PKHD1L1	93035	broad.mit.edu	37	8	110477216	110477216	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:110477216G>T	uc003yne.2	+	49	8259	c.8155G>T	c.(8155-8157)GGG>TGG	p.G2719W		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2719	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)			ACTGGGAATGGGGTCTGCATT	0.473000										HNSCC(38;0.096)		
KCNV1	27012	broad.mit.edu	37	8	110984793	110984793	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:110984793G>T	uc003ynr.3	-	2	1027	c.685C>A	c.(685-687)CTG>ATG	p.L229M	KCNV1_uc010mcw.2_Missense_Mutation_p.L229M	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	229	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCTGACATCAGGGCCATGTTA	0.522000												
CSMD3	114788	broad.mit.edu	37	8	113301692	113301692	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:113301692A>G	uc003ynu.2	-	57	9209	c.9050T>C	c.(9049-9051)GTT>GCT	p.V3017A	CSMD3_uc003yns.2_Missense_Mutation_p.V2219A|CSMD3_uc003ynt.2_Missense_Mutation_p.V2977A|CSMD3_uc011lhx.1_Missense_Mutation_p.V2848A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3017	Sushi 21.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GGAATAGTGAACAGTAGACCC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113569032	113569032	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:113569032C>A	uc003ynu.2	-	25	4353	c.4194G>T	c.(4192-4194)GGG>GGT	p.G1398G	CSMD3_uc003yns.2_Silent_p.G670G|CSMD3_uc003ynt.2_Silent_p.G1358G|CSMD3_uc011lhx.1_Silent_p.G1294G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1398	Extracellular (Potential).|Sushi 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						CCCTTCTCTCCCCTGTCATGC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	114111065	114111065	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:114111065A>C	uc003ynu.2	-	5	996	c.837T>G	c.(835-837)ATT>ATG	p.I279M	CSMD3_uc003ynt.2_Missense_Mutation_p.I239M|CSMD3_uc011lhx.1_Missense_Mutation_p.I279M|CSMD3_uc010mcx.1_Missense_Mutation_p.I279M	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	279	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						ATATGAGTGAAATTGTGTCCC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116599312	116599312	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:116599312G>A	uc003ynz.2	-	4	3036	c.2577C>T	c.(2575-2577)GGC>GGT	p.G859G	TRPS1_uc011lhy.1_Silent_p.G863G|TRPS1_uc003yny.2_Silent_p.G872G|TRPS1_uc010mcy.2_Silent_p.G859G	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	859					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACTTCTCTCCGCCAGCTGGCG	0.572000									Langer-Giedion_syndrome			
TRPS1	7227	broad.mit.edu	37	8	116599595	116599595	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:116599595A>G	uc003ynz.2	-	4	2753	c.2294T>C	c.(2293-2295)GTG>GCG	p.V765A	TRPS1_uc011lhy.1_Missense_Mutation_p.V769A|TRPS1_uc003yny.2_Missense_Mutation_p.V778A|TRPS1_uc010mcy.2_Missense_Mutation_p.V765A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	765	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTCTCTCTTCACCACACTCTC	0.493000									Langer-Giedion_syndrome			
TAF2	6873	broad.mit.edu	37	8	120844892	120844892	+	Translation_Start_Site	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:120844892C>A	uc003you.2	-	1	183	c.-87G>T	c.(-89--85)CAGGG>CATGG			NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTCCACTCCCCTGCGGTCCCC	0.647000												
WDR67	93594	broad.mit.edu	37	8	124089413	124089413	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:124089413A>C	uc003ypp.1	+	2	230	c.140A>C	c.(139-141)AAT>ACT	p.N47T	WDR67_uc011lig.1_Missense_Mutation_p.N47T|WDR67_uc011lih.1_5'UTR|WDR67_uc003ypq.1_RNA|WDR67_uc003ypo.1_Missense_Mutation_p.N47T	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	WD repeat domain 67 isoform 1	47	WD 1.					centrosome	Rab GTPase activator activity			skin(1)	1	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGATTTTTGAATGTGGCTTTT	0.363000												
FBXO32	114907	broad.mit.edu	37	8	124526525	124526525	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:124526525C>T	uc003yqr.2	-	5	613	c.421G>A	c.(421-423)GCC>ACC	p.A141T	FBXO32_uc003yqq.2_5'UTR|FBXO32_uc010mdk.2_Intron	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	F-box only protein 32 isoform 1	141										skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTTTTGGGCGATGCCACTC	0.448000												
KIAA0196	9897	broad.mit.edu	37	8	126056870	126056870	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:126056870G>A	uc003yrt.2	-	21	2904	c.2575C>T	c.(2575-2577)CGC>TGC	p.R859C	KIAA0196_uc011lir.1_Missense_Mutation_p.R711C|KIAA0196_uc003yru.1_Missense_Mutation_p.R433C	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	859					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAGAAGAGGCGGCTGCTGGTC	0.428000												
KIAA0196	9897	broad.mit.edu	37	8	126091169	126091169	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:126091169A>C	uc003yrt.2	-	6	851	c.522T>G	c.(520-522)GCT>GCG	p.A174A	KIAA0196_uc011lir.1_Silent_p.A26A	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	174					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AAGATCGAGCAGCACTGAGTC	0.383000												
TRIB1	10221	broad.mit.edu	37	8	126448430	126448430	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:126448430T>C	uc003yrx.2	+	3	1418	c.836T>C	c.(835-837)GTT>GCT	p.V279A	TRIB1_uc011lis.1_Missense_Mutation_p.V113A|TRIB1_uc010mdn.2_Missense_Mutation_p.V48A	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	279	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ACCCTTCTGGTTGGACGATAC	0.572000												
ADCY8	114	broad.mit.edu	37	8	132051786	132051786	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:132051786C>A	uc003ytd.3	-	1	1050	c.794G>T	c.(793-795)GGG>GTG	p.G265V	ADCY8_uc010mds.2_Missense_Mutation_p.G265V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	265	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCCAGGAGCCCGTAGCCGAG	0.667000										HNSCC(32;0.087)		
PHF20L1	51105	broad.mit.edu	37	8	133829724	133829724	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:133829724A>G	uc003ytt.2	+	12	1838	c.1513A>G	c.(1513-1515)ACA>GCA	p.T505A	PHF20L1_uc003yts.2_Missense_Mutation_p.T505A|PHF20L1_uc011lja.1_Missense_Mutation_p.T479A|PHF20L1_uc003ytu.1_RNA	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1 isoform 1	505							nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAAAGAGGATACACAGATGCT	0.448000												
TG	7038	broad.mit.edu	37	8	134128894	134128894	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:134128894C>T	uc003ytw.2	+	45	7837	c.7796C>T	c.(7795-7797)GCC>GTC	p.A2599V	TG_uc010mdw.2_Missense_Mutation_p.A1358V|TG_uc011ljb.1_Missense_Mutation_p.A968V|TG_uc011ljc.1_Missense_Mutation_p.A732V	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2599					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGGCCAGTGCCTGGGCAAAG	0.527000												
NDRG1	10397	broad.mit.edu	37	8	134274294	134274294	+	Missense_Mutation	SNP	C	C	T	rs144310406		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:134274294C>T	uc003yuh.2	-	5	908	c.322G>A	c.(322-324)GCA>ACA	p.A108T	NDRG1_uc003yug.2_Missense_Mutation_p.A108T|NDRG1_uc010mee.2_Missense_Mutation_p.A27T|NDRG1_uc010mef.2_Missense_Mutation_p.A42T|NDRG1_uc011ljh.1_5'UTR|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	108					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCTCACCCTGCGGGGAAGGAG	0.587000												
FAM135B	51059	broad.mit.edu	37	8	139164232	139164232	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:139164232A>C	uc003yuy.2	-	13	2657	c.2486T>G	c.(2485-2487)CTG>CGG	p.L829R	FAM135B_uc003yux.2_Missense_Mutation_p.L730R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L391R|FAM135B_uc003yvb.2_Missense_Mutation_p.L391R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	829										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TATCTCCACCAGGGGATGGTC	0.512000										HNSCC(54;0.14)		
CHRAC1	54108	broad.mit.edu	37	8	141524535	141524535	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:141524535T>C	uc003yvl.2	+	2	413	c.215T>C	c.(214-216)CTG>CCG	p.L72P	CHRAC1_uc010mem.1_Intron	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	72					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(1)	1	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGAAAGTACTGACTTACAGT	0.373000												
FLJ43860	389690	broad.mit.edu	37	8	142446014	142446014	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:142446014G>A	uc003ywi.2	-	28	3635	c.3554C>T	c.(3553-3555)ACG>ATG	p.T1185M	FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	hypothetical protein LOC389690	1185							binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCACTGACCGTGGCGACAGC	0.667000												
BAI1	575	broad.mit.edu	37	8	143623520	143623520	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:143623520C>A	uc003ywm.2	+	27	4108	c.3925C>A	c.(3925-3927)CTC>ATC	p.L1309I		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1309	Cytoplasmic (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCACTGACCCTCAAGAGGGA	0.647000												
GML	2765	broad.mit.edu	37	8	143928051	143928051	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:143928051T>C	uc003yxg.2	+	4	512	c.422T>C	c.(421-423)GTA>GCA	p.V141A		NM_002066	NP_002057	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule	141					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				central_nervous_system(2)	2	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGGCTGGGGGTATCAAAACTG	0.483000												
ZFP41	286128	broad.mit.edu	37	8	144332268	144332268	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144332268A>C	uc003yxw.2	+	2	613	c.255A>C	c.(253-255)AAA>AAC	p.K85N	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	85					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAGGAAGAAACCCTATGAGT	0.502000												
EEF1D	1936	broad.mit.edu	37	8	144662696	144662696	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144662696T>C	uc011lki.1	-	6	861	c.592A>G	c.(592-594)ATC>GTC	p.I198V	NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Missense_Mutation_p.I540V|EEF1D_uc003yyq.1_Missense_Mutation_p.I614V|EEF1D_uc011lkj.1_Missense_Mutation_p.I563V|EEF1D_uc003yyr.2_Missense_Mutation_p.I564V|EEF1D_uc003yyt.2_Missense_Mutation_p.I564V|EEF1D_uc011lkk.1_Missense_Mutation_p.I198V|EEF1D_uc003yys.2_Missense_Mutation_p.I198V|EEF1D_uc003yyv.2_Missense_Mutation_p.I174V|EEF1D_uc003yyu.2_Missense_Mutation_p.I198V|EEF1D_uc011lkl.1_Missense_Mutation_p.I179V	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	198					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCAGCAGGATGGAGGACTTG	0.677000												
TSTA3	7264	broad.mit.edu	37	8	144698770	144698770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144698770C>T	uc003yza.2	-	2	149	c.113G>A	c.(112-114)TGG>TAG	p.W38*	TSTA3_uc003yzb.2_Nonsense_Mutation_p.W38*|TSTA3_uc011lko.1_Nonsense_Mutation_p.W38*	NM_003313	NP_003304	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	38	NADP (Potential).				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			pancreas(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GACAAACACCCAGTCCTCTCC	0.567000												
EPPK1	83481	broad.mit.edu	37	8	144945478	144945478	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144945478A>G	uc003zaa.1	-	1	1957	c.1944T>C	c.(1942-1944)GCT>GCC	p.A648A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	648	Plectin 12.					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)			AGCCTGTGGCAGCTTGTGCCT	0.617000												
PLEC	5339	broad.mit.edu	37	8	144993691	144993691	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144993691A>G	uc003zaf.1	-	32	10879	c.10709T>C	c.(10708-10710)GTC>GCC	p.V3570A	PLEC_uc003zab.1_Missense_Mutation_p.V3433A|PLEC_uc003zac.1_Missense_Mutation_p.V3437A|PLEC_uc003zad.2_Missense_Mutation_p.V3433A|PLEC_uc003zae.1_Missense_Mutation_p.V3401A|PLEC_uc003zag.1_Missense_Mutation_p.V3411A|PLEC_uc003zah.2_Missense_Mutation_p.V3419A|PLEC_uc003zaj.2_Missense_Mutation_p.V3460A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3570	Plectin 14.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTAGCCGGTGACGGCCTTCTC	0.677000												
PLEC	5339	broad.mit.edu	37	8	144993786	144993786	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144993786G>A	uc003zaf.1	-	32	10784	c.10614C>T	c.(10612-10614)CCC>CCT	p.P3538P	PLEC_uc003zab.1_Silent_p.P3401P|PLEC_uc003zac.1_Silent_p.P3405P|PLEC_uc003zad.2_Silent_p.P3401P|PLEC_uc003zae.1_Silent_p.P3369P|PLEC_uc003zag.1_Silent_p.P3379P|PLEC_uc003zah.2_Silent_p.P3387P|PLEC_uc003zaj.2_Silent_p.P3428P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3538	Plectin 13.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGTTCCGCACGGGGTCCACCA	0.697000												
SHARPIN	81858	broad.mit.edu	37	8	145153893	145153893	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145153893C>T	uc003zba.2	-	8	1536	c.1052G>A	c.(1051-1053)AGC>AAC	p.S351N	SHARPIN_uc003zbb.2_RNA	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	351	RanBP2-type.				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGGACCAGCTGGGCTGGGG	0.627000												
FBXL6	26233	broad.mit.edu	37	8	145579191	145579191	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145579191C>A	uc003zcb.2	-	9	1645	c.1620G>T	c.(1618-1620)TAG>TAT	p.*540Y	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_Translation_Start_Site|FBXL6_uc003zbz.2_Nonstop_Mutation_p.*267Y|FBXL6_uc003zca.2_Nonstop_Mutation_p.*534Y|FBXL6_uc010mfx.2_Nonstop_Mutation_p.*301Y	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	540					proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CTGTGGCTGCCTAGCTGGGTG	0.572000												
FBXL6	26233	broad.mit.edu	37	8	145579803	145579803	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145579803A>G	uc003zcb.2	-	8	1322	c.1297T>C	c.(1297-1299)TTT>CTT	p.F433L	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.F160L|FBXL6_uc003zca.2_Missense_Mutation_p.F427L|FBXL6_uc010mfx.2_Missense_Mutation_p.F194L|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	433	LRR 9.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGGTCAAAAAGGGGCTGCCC	0.572000												
ADCK5	203054	broad.mit.edu	37	8	145616151	145616151	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145616151G>A	uc003zch.2	+	5	492	c.438G>A	c.(436-438)GTG>GTA	p.V146V	ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	146						integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCTCTACGTGAAGCTGGGCC	0.662000												
CPSF1	29894	broad.mit.edu	37	8	145619255	145619255	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145619255T>C	uc003zcj.2	-	35	3935	c.3860_splice	c.e35-1	p.A1287_splice		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,						mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCTCCTTGGCTAGACCAGAAA	0.657000												
KIFC2	90990	broad.mit.edu	37	8	145698024	145698024	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145698024G>A	uc003zcz.2	+	16	1861	c.1796G>A	c.(1795-1797)CGC>CAC	p.R599H	KIFC2_uc003zda.2_5'UTR	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	599	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGCAGCTCCCGCTCGCATGCC	0.721000												
C8orf33	65265	broad.mit.edu	37	8	146277881	146277881	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:146277881G>T	uc003zfc.3	+	1	58	c.4G>T	c.(4-6)GCG>TCG	p.A2S	C8orf33_uc003zfd.2_5'Flank	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	2											0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GCGGCGCATGGCGGTGAGCGG	0.642000												
DOCK8	81704	broad.mit.edu	37	9	420992	420992	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:420992A>C	uc003zgf.2	+	32	4179	c.4067A>C	c.(4066-4068)AAG>ACG	p.K1356T	DOCK8_uc010mgu.2_Missense_Mutation_p.K658T|DOCK8_uc010mgv.2_Missense_Mutation_p.K1256T|DOCK8_uc003zgk.2_Missense_Mutation_p.K814T	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1356	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTCCTGCAGAAGTCAAGGGAT	0.577000												
KDM4C	23081	broad.mit.edu	37	9	7103815	7103815	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:7103815A>G	uc003zkh.2	+	18	3135	c.2555A>G	c.(2554-2556)GAC>GGC	p.D852G	KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.D852G|KDM4C_uc011lmk.1_Missense_Mutation_p.D597G|KDM4C_uc011lml.1_Missense_Mutation_p.D539G	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	852	PHD-type 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						GAGCCTGATGACTGGCCTTAT	0.448000												
MPDZ	8777	broad.mit.edu	37	9	13136156	13136156	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:13136156C>T	uc010mia.1	-	30	4375	c.4318G>A	c.(4318-4320)GCC>ACC	p.A1440T	MPDZ_uc003zky.3_Missense_Mutation_p.A2T|MPDZ_uc010mib.2_Missense_Mutation_p.A145T|MPDZ_uc010mhx.2_Missense_Mutation_p.A262T|MPDZ_uc011lmm.1_Missense_Mutation_p.A299T|MPDZ_uc003zkz.3_Missense_Mutation_p.A133T|MPDZ_uc010mhy.2_Missense_Mutation_p.A1440T|MPDZ_uc010mhz.2_Missense_Mutation_p.A1407T|MPDZ_uc011lmn.1_Missense_Mutation_p.A1407T|MPDZ_uc003zlb.3_Missense_Mutation_p.A1440T	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1440					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		GGACATACGGCCATCTGATTC	0.343000												
MPDZ	8777	broad.mit.edu	37	9	13247747	13247747	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:13247747G>A	uc010mia.1	-	2	127	c.70C>T	c.(70-72)CGT>TGT	p.R24C	MPDZ_uc010mhy.2_Missense_Mutation_p.R24C|MPDZ_uc010mhz.2_Missense_Mutation_p.R24C|MPDZ_uc011lmn.1_Missense_Mutation_p.R24C|MPDZ_uc003zlb.3_Missense_Mutation_p.R24C	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	24	L27.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ACATCCCCACGTTCTCGCAGC	0.483000												
FREM1	158326	broad.mit.edu	37	9	14737553	14737553	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:14737553G>A	uc003zlm.2	-	37	6971	c.6381C>T	c.(6379-6381)ATC>ATT	p.I2127I	FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Silent_p.I663I	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	2127	C-type lectin.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)		GTTCACCACCGATCCACTCCC	0.453000												
MLLT3	4300	broad.mit.edu	37	9	20413989	20413989	+	Silent	SNP	C	C	T	rs146067491	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:20413989C>T	uc003zoe.2	-	5	1114	c.855G>A	c.(853-855)CCG>CCA	p.P285P	MLLT3_uc011lne.1_Silent_p.P253P|MLLT3_uc011lnf.1_Silent_p.P282P|MLLT3_uc003zof.2_Silent_p.P86P	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTGAAATGGGCGGCCTTTTAC	0.418000			T	MLL	ALL							
PTPLAD2	401494	broad.mit.edu	37	9	21029383	21029383	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:21029383G>A	uc010miq.1	-	2	99	c.53C>T	c.(52-54)GCG>GTG	p.A18V	PTPLAD2_uc003zoj.1_5'UTR|PTPLAD2_uc010mir.1_Missense_Mutation_p.A18V	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain	18	Cytoplasmic (Potential).				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			skin(1)	1				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GAAAAGATACGCATTCTTCCT	0.338000												
IFNW1	3467	broad.mit.edu	37	9	21141445	21141445	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:21141445T>C	uc003zol.1	-	1	700	c.125A>G	c.(124-126)CAC>CGC	p.H42R		NM_002177	NP_002168	P05000	IFNW1_HUMAN	interferon, omega 1 precursor	42				H -> M (in Ref. 8; AA sequence).	cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding				0				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCTCATTTGGTGCAGAAGCAC	0.527000												
KLHL9	55958	broad.mit.edu	37	9	21333640	21333640	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:21333640G>A	uc003zoy.2	-	1	1790	c.1219C>T	c.(1219-1221)CGC>TGC	p.R407C	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	407	Kelch 3.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.R407C(1)		ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCTGCACTGCGCCCACCAACT	0.448000												
DNAJB5	25822	broad.mit.edu	37	9	34996747	34996747	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:34996747G>A	uc003zvt.2	+	3	835	c.697G>A	c.(697-699)GCC>ACC	p.A233T	DNAJB5_uc003zvs.2_Missense_Mutation_p.A267T|DNAJB5_uc011los.1_Missense_Mutation_p.A305T	NM_012266	NP_036398	O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	233					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding				0			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAAGGCGACGCCACACCTGA	0.562000												
VCP	7415	broad.mit.edu	37	9	35062112	35062112	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35062112G>A	uc003zvy.2	-	9	1358	c.969C>T	c.(967-969)CGC>CGT	p.R323R	VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Silent_p.R278R	NM_007126	NP_009057	P55072	TERA_HUMAN	valosin-containing protein	323					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			upper_aerodigestive_tract(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGATACAATGCGCCGCTCCA	0.537000												
TLN1	7094	broad.mit.edu	37	9	35706862	35706862	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35706862G>A	uc003zxt.2	-	38	5345	c.4991C>T	c.(4990-4992)GCC>GTC	p.A1664V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1664	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGCAATGGCCGTTTCACA	0.582000												
GBA2	57704	broad.mit.edu	37	9	35737837	35737837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35737837G>A	uc003zxw.2	-	16	2937	c.2413C>T	c.(2413-2415)CAG>TAG	p.Q805*	GBA2_uc003zxx.1_Nonsense_Mutation_p.Q100*|GBA2_uc011lpb.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpc.1_Nonsense_Mutation_p.Q805*|GBA2_uc011lpd.1_Nonsense_Mutation_p.Q811*	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	805	Cytoplasmic (Potential).				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCATGGGGCTGCATCCCATTC	0.552000												
OR13J1	392309	broad.mit.edu	37	9	35869823	35869823	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:35869823C>T	uc011lph.1	-	1	576	c.576G>A	c.(574-576)ACG>ACA	p.T192T		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CGCTGACCGACGTGTTGCCGC	0.597000												
PGM5	5239	broad.mit.edu	37	9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:70993121C>T	uc004agr.2	+	2	497	c.268C>T	c.(268-270)CGA>TGA	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						TTAGATTGGACGACTGATTAT	0.443000												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478000												
TRPM6	140803	broad.mit.edu	37	9	77377698	77377698	+	Silent	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:77377698T>G	uc004ajl.1	-	26	4127	c.3889A>C	c.(3889-3891)AGG>CGG	p.R1297R	TRPM6_uc004ajk.1_Silent_p.R1292R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.R253R	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1297	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AGTGCCCCCCTCTGCACTCTT	0.478000												
PSAT1	29968	broad.mit.edu	37	9	80919716	80919716	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:80919716T>A	uc004ala.2	+	4	325	c.257T>A	c.(256-258)GTC>GAC	p.V86D	PSAT1_uc004alb.2_Missense_Mutation_p.V86D	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1 isoform 1	86					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTCAGTGCTGTCCCCTTAAAC	0.493000												
NTRK2	4915	broad.mit.edu	37	9	87342632	87342632	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:87342632C>T	uc004aoa.1	+	11	1855	c.917C>T	c.(916-918)ACT>ATT	p.T306I	NTRK2_uc004anv.1_Missense_Mutation_p.T293I|NTRK2_uc004any.1_Missense_Mutation_p.T306I|NTRK2_uc004anz.1_Missense_Mutation_p.T306I|NTRK2_uc011lsz.1_Missense_Mutation_p.T306I|NTRK2_uc011lta.1_Missense_Mutation_p.T306I|NTRK2_uc004aob.1_Missense_Mutation_p.T306I|NTRK2_uc011ltb.1_Missense_Mutation_p.T150I	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	306	Extracellular (Potential).|Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						ATTCCATTCACTGTGAAAGGC	0.408000										TSP Lung(25;0.17)		
S1PR3	1903	broad.mit.edu	37	9	91616825	91616825	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:91616825G>A	uc004aqe.2	+	2	1106	c.710G>A	c.(709-711)CGG>CAG	p.R237Q		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	237	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						AACTCGGAGCGGTCCATGGCA	0.582000												
DIRAS2	54769	broad.mit.edu	37	9	93376078	93376078	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:93376078G>A	uc004aqx.1	-	2	143	c.32C>T	c.(31-33)GCC>GTC	p.A11V		NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Di-Ras2	11					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity				0						CCCAAACACGGCCACCCGGTA	0.542000												
ROR2	4920	broad.mit.edu	37	9	94538101	94538101	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:94538101C>A	uc004arj.1	-	2	297	c.98_splice	c.e2-1	p.G33_splice	ROR2_uc004ari.1_Splice_Site|ROR2_uc004ark.2_Splice_Site_p.G33_splice	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						TCCACTTCACCTGGGAAAAAG	0.478000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OGN	4969	broad.mit.edu	37	9	95152157	95152157	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:95152157T>C	uc004asa.2	-	5	844	c.609A>G	c.(607-609)GGA>GGG	p.G203G	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Silent_p.G203G|OGN_uc011ltx.1_Silent_p.G221G	NM_014057	NP_054776	P20774	MIME_HUMAN	osteoglycin preproprotein	203	LRR 5.					extracellular space|proteinaceous extracellular matrix	growth factor activity				0						TTGCTTTGATTCCCCTACTCT	0.308000												
ECM2	1842	broad.mit.edu	37	9	95267870	95267870	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:95267870C>T	uc004ash.2	-	7	1474	c.1409G>A	c.(1408-1410)CGT>CAT	p.R470H	CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.R448H|ECM2_uc011lty.1_Missense_Mutation_p.R470H|ECM2_uc004asg.2_Missense_Mutation_p.R448H|ECM2_uc010mqz.1_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	extracellular matrix protein 2 precursor	470	LRR 5.				cell-matrix adhesion		integrin binding			ovary(1)|skin(1)	2						TTTTCCCAGACGCAAGTAGGC	0.333000												
HIATL1	84641	broad.mit.edu	37	9	97216241	97216241	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:97216241C>T	uc004aur.2	+	9	1186	c.917C>T	c.(916-918)ACG>ATG	p.T306M	HIATL1_uc011luh.1_Missense_Mutation_p.T241M	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	306	Extracellular (Potential).				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				ACTTTGCAGACGGCCTTTCTT	0.443000												
SLC35D2	11046	broad.mit.edu	37	9	99084346	99084346	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:99084346T>C	uc004awc.2	-	11	924	c.848A>G	c.(847-849)TAC>TGC	p.Y283C	SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Missense_Mutation_p.Y236C|SLC35D2_uc010msf.2_Missense_Mutation_p.Y195C|SLC35D2_uc004awd.2_Silent_p.L125L	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	solute carrier family 35, member D2	283	Helical; (Potential).					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity				0		Acute lymphoblastic leukemia(62;0.0167)				TATCCCAATGTAGGCAACGGA	0.343000												
KIAA1529	57653	broad.mit.edu	37	9	100070292	100070292	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:100070292G>A	uc011lut.1	+	14	1269	c.496G>A	c.(496-498)GAC>AAC	p.D166N	KIAA1529_uc004axe.1_Missense_Mutation_p.D166N|KIAA1529_uc004axg.1_Missense_Mutation_p.D27N|KIAA1529_uc011lus.1_Missense_Mutation_p.D27N|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.D27N|KIAA1529_uc011luv.1_Missense_Mutation_p.D27N	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				CCAAAGCCTAGACGCGTTTCC	0.612000												
TMOD1	7111	broad.mit.edu	37	9	100328170	100328170	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:100328170T>C	uc004axk.1	+	7	872	c.659T>C	c.(658-660)CTG>CCG	p.L220P	TMOD1_uc004axl.1_Missense_Mutation_p.L220P	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	220					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GCAGAAGCCCTGAAAGAAAAC	0.507000												
XPA	7507	broad.mit.edu	37	9	100456024	100456024	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:100456024C>T	uc004axr.3	-	2	307	c.190G>A	c.(190-192)GCA>ACA	p.A64T	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	64	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				TTTGGGGCTGCTTTTACATTA	0.358000			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum			
BAAT	570	broad.mit.edu	37	9	104130442	104130442	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:104130442T>C	uc010mtd.2	-	3	738	c.629A>G	c.(628-630)TAT>TGT	p.Y210C	BAAT_uc004bbd.3_Missense_Mutation_p.Y210C	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	210					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CTCCTCAAAATATTCCAAATC	0.448000												
ZNF189	7743	broad.mit.edu	37	9	104171448	104171448	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:104171448T>C	uc004bbh.1	+	3	1674	c.1398T>C	c.(1396-1398)AGT>AGC	p.S466S	ZNF189_uc004bbg.1_Silent_p.S424S|ZNF189_uc004bbi.1_Silent_p.S452S|ZNF189_uc011lvk.1_Silent_p.S451S	NM_003452	NP_003443	O75820	ZN189_HUMAN	zinc finger protein 189 isoform 1	466	C2H2-type 11.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6		Acute lymphoblastic leukemia(62;0.0559)				AAACTTTTAGTGTTAGTGCTC	0.388000												
ALDOB	229	broad.mit.edu	37	9	104187902	104187902	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:104187902G>A	uc004bbk.2	-	7	714	c.632C>T	c.(631-633)GCT>GTT	p.A211V		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	211					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				GTAGACAGCAGCCAGGACCTG	0.522000												
ACTL7A	10881	broad.mit.edu	37	9	111625023	111625023	+	Missense_Mutation	SNP	G	G	A	rs139001396		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:111625023G>A	uc004bdj.1	+	1	421	c.421G>A	c.(421-423)GTG>ATG	p.V141M		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	actin-like 7A	141						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton				0						TGGCATCATCGTGGACTGGGA	0.522000												
SVEP1	79987	broad.mit.edu	37	9	113192681	113192681	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:113192681T>C	uc010mtz.2	-	33	5740	c.5403A>G	c.(5401-5403)TCA>TCG	p.S1801S	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1801	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						AAATCTCACCTGAGGAGTGGC	0.423000												
MUSK	4593	broad.mit.edu	37	9	113562722	113562722	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:113562722G>T	uc004bey.2	+	14	2162	c.2064G>T	c.(2062-2064)CAG>CAT	p.Q688H	MUSK_uc004bez.1_Missense_Mutation_p.Q268H	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	688	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TGAGGGCTCAGGTCTCCAGCC	0.572000												
C9orf80	58493	broad.mit.edu	37	9	115478759	115478759	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:115478759C>T	uc004bgg.2	-	2	184	c.7G>A	c.(7-9)GCA>ACA	p.A3T	C9orf80_uc010muk.2_RNA	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	SOSSC protein	3					DNA repair|response to ionizing radiation	SOSS complex	protein binding				0						GAAGAGTTTGCTGCCATTTTC	0.343000												
AMBP	259	broad.mit.edu	37	9	116840388	116840388	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:116840388G>A	uc004bie.3	-	1	365	c.102C>T	c.(100-102)AAC>AAT	p.N34N	AMBP_uc011lxk.1_5'Flank|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	34					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGATATTGAAGTTTTCCTGCA	0.642000												
ASTN2	23245	broad.mit.edu	37	9	119625888	119625888	+	Missense_Mutation	SNP	G	G	A	rs144963407		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:119625888G>A	uc004bjs.1	-	11	2115	c.2014C>T	c.(2014-2016)CGG>TGG	p.R672W	ASTN2_uc004bjr.1_Missense_Mutation_p.R668W|ASTN2_uc004bjt.1_Missense_Mutation_p.R621W	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	672	Extracellular (Potential).|EGF-like 2.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TCCACCTGCCGGTCAGACACA	0.592000												
OR1N1	138883	broad.mit.edu	37	9	125288841	125288841	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:125288841G>A	uc004bmn.1	-	1	732	c.732C>T	c.(730-732)TGC>TGT	p.C244C		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)|breast(1)|skin(1)	3						CACAAACAACGCAGAGGTGGG	0.552000												
RC3H2	54542	broad.mit.edu	37	9	125627905	125627905	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:125627905T>C	uc010mwc.1	-	10	1598	c.1357A>G	c.(1357-1359)ACT>GCT	p.T453A	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Missense_Mutation_p.T453A|RC3H2_uc004bne.3_Missense_Mutation_p.T453A	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	453						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GTTCTTACAGTGGCATTGATC	0.348000												
RABGAP1	23637	broad.mit.edu	37	9	125782719	125782719	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:125782719A>G	uc011lzh.1	+	13	1909	c.1775A>G	c.(1774-1776)TAC>TGC	p.Y592C	RABGAP1_uc004bnl.3_RNA	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	592	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			ovary(3)|kidney(2)	5						GTAGAGAAATACCGCATTCTT	0.403000												
WDR38	401551	broad.mit.edu	37	9	127617935	127617935	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:127617935C>A	uc004box.2	+	3	269	c.213C>A	c.(211-213)TTC>TTA	p.F71L	WDR38_uc011lzn.1_Missense_Mutation_p.F60L|WDR38_uc011lzo.1_Missense_Mutation_p.F71L|WDR38_uc011lzp.1_Intron	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	71	WD 2.										0						TCTGCCGCTTCTCCCCTGATG	0.627000												
RPL35	11224	broad.mit.edu	37	9	127620344	127620344	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:127620344G>A	uc004boy.1	-	4	274	c.225C>T	c.(223-225)GGC>GGT	p.G75G		NM_007209	NP_009140	P42766	RL35_HUMAN	ribosomal protein L35	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			ovary(1)	1				GBM - Glioblastoma multiforme(294;0.182)		TGTACTTCTTGCCCTGGGAGA	0.622000												
ZBTB34	403341	broad.mit.edu	37	9	129642108	129642108	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:129642108G>A	uc004bqm.3	+	2	515	c.418G>A	c.(418-420)GGT>AGT	p.G140S		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGTTACCGTCGGTGCTGAAGA	0.502000												
GARNL3	84253	broad.mit.edu	37	9	130152962	130152962	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:130152962A>C	uc011mae.1	+	27	3187	c.2786A>C	c.(2785-2787)AAG>ACG	p.K929T	GARNL3_uc011mad.1_Missense_Mutation_p.K907T|GARNL3_uc010mxi.2_Missense_Mutation_p.K159T	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	929					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GGAGCGCCAAAGGCCAAATCA	0.557000												
ZNF79	7633	broad.mit.edu	37	9	130197367	130197367	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:130197367A>G	uc004bqw.3	+	3	520	c.106_splice	c.e3-2	p.G36_splice	ZNF79_uc011maf.1_Splice_Site_p.G12_splice|ZNF79_uc011mag.1_Splice_Site_p.G12_splice	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						TTGTTTTTTCAGGGATCCACA	0.502000												
CIZ1	25792	broad.mit.edu	37	9	130941408	130941408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:130941408G>A	uc004btt.2	-	8	1241	c.1078C>T	c.(1078-1080)CAG>TAG	p.Q360*	CIZ1_uc004btr.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q331*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q355*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q336*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q259*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q390*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btx.2_Nonsense_Mutation_p.Q336*	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	360	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						ggctgcacctgcttctgttgc	0.249000												
ODF2	4957	broad.mit.edu	37	9	131223325	131223325	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:131223325G>T	uc011mbd.1	+	4	539	c.228G>T	c.(226-228)CGG>CGT	p.R76R	ODF2_uc011maz.1_Silent_p.R76R|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_Intron|ODF2_uc011mbb.1_Intron|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Silent_p.R29R|ODF2_uc004bvb.2_Intron|ODF2_uc011mbe.1_Silent_p.R71R|ODF2_uc004bvc.2_Intron|ODF2_uc010myc.2_Silent_p.R76R|ODF2_uc011mbf.1_Intron|ODF2_uc004bvd.3_Silent_p.R76R|ODF2_uc004bve.2_Intron	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	76					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CATCTGCCCGGCCTGTGGGAT	0.572000												
TBC1D13	54662	broad.mit.edu	37	9	131565555	131565555	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:131565555G>A	uc010myj.2	+	8	693	c.570G>A	c.(568-570)GTG>GTA	p.V190V	TBC1D13_uc010myk.2_Intron|TBC1D13_uc010myl.2_Silent_p.V9V	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	190	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						AGAACTCTGTGCCATCATCCC	0.483000												
ASB6	140459	broad.mit.edu	37	9	132400101	132400101	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:132400101C>T	uc004byf.1	-	6	1400	c.1234G>A	c.(1234-1236)GAG>AAG	p.E412K	ASB6_uc004bye.1_Missense_Mutation_p.E337K|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_Missense_Mutation_p.E333K|ASB6_uc010myx.1_Missense_Mutation_p.E383K	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box-containing 6 isoform	412	SOCS box.				intracellular signal transduction	cytoplasm					0		Ovarian(14;0.00556)				CCACTGTGCTCGCTAAGGAGG	0.602000												
C9orf78	51759	broad.mit.edu	37	9	132590511	132590511	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:132590511G>A	uc004byp.2	-	9	871	c.799C>T	c.(799-801)CGT>TGT	p.R267C	C9orf78_uc004byo.2_Silent_p.S181S	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	267											0		Ovarian(14;0.00556)				TTAGCAGGACGCTTGCGGTTA	0.383000												
LAMC3	10319	broad.mit.edu	37	9	133936465	133936465	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:133936465A>G	uc004caa.1	+	13	2300	c.2202A>G	c.(2200-2202)GAA>GAG	p.E734E		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	734	Laminin EGF-like 6.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CATCCTGTGAACGCTGTTTGC	0.617000												
RAPGEF1	2889	broad.mit.edu	37	9	134497351	134497351	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:134497351C>T	uc004cbc.2	-	11	1816	c.1686G>A	c.(1684-1686)TCG>TCA	p.S562S	RAPGEF1_uc004cbb.2_Silent_p.S580S|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.S567S|RAPGEF1_uc004cbd.2_Silent_p.S567S|RAPGEF1_uc010mzs.1_Silent_p.S8S|RAPGEF1_uc010mzl.1_Silent_p.S8S|RAPGEF1_uc010mzo.1_Silent_p.S8S|RAPGEF1_uc010mzp.1_Silent_p.S8S|RAPGEF1_uc010mzq.1_Silent_p.S8S|RAPGEF1_uc010mzr.1_Silent_p.S8S	NM_005312	NP_005303	Q13905	RPGF1_HUMAN	guanine nucleotide-releasing factor 2 isoform a	562					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCGGCTCCGAGTAGTCCT	0.587000												
TSC1	7248	broad.mit.edu	37	9	135781295	135781295	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:135781295A>G	uc004cca.2	-	15	1904	c.1670T>C	c.(1669-1671)CTG>CCG	p.L557P	TSC1_uc004ccb.3_Missense_Mutation_p.L556P|TSC1_uc011mcq.1_Missense_Mutation_p.L506P|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	557					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.L557fs*72(1)|p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCCGCAGGGCAGGTCTATGGG	0.552000			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
CEL	1056	broad.mit.edu	37	9	135947128	135947128	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:135947128A>G	uc010naa.1	+	11	2264	c.2248A>G	c.(2248-2250)ATG>GTG	p.M750V		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	747					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGAAGCTCAGATGCCTGCAGT	0.642000												
ADAMTS13	11093	broad.mit.edu	37	9	136321249	136321249	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:136321249G>A	uc004cdv.3	+	26	4071	c.3627G>A	c.(3625-3627)GGG>GGA	p.G1209G	ADAMTS13_uc004cdp.3_Silent_p.G380G|ADAMTS13_uc004cdt.1_Silent_p.G1153G|ADAMTS13_uc004cdu.1_Silent_p.G1122G|ADAMTS13_uc004cdw.3_Silent_p.G1153G|ADAMTS13_uc004cdx.3_Silent_p.G1122G|ADAMTS13_uc004cdz.3_Silent_p.G879G|ADAMTS13_uc004cea.1_Silent_p.G5G|ADAMTS13_uc004ceb.3_Silent_p.G5G	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1209	CUB 1.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAGGCCCAGGGCAGGCAGACT	0.617000												
RXRA	6256	broad.mit.edu	37	9	137300061	137300061	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:137300061G>A	uc004cfb.2	+	3	508	c.346G>A	c.(346-348)GTC>ATC	p.V116I	RXRA_uc004cfc.1_Missense_Mutation_p.V19I	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	116	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTCAATGGCGTCCTCAAGGT	0.652000												
OLFM1	10439	broad.mit.edu	37	9	137982144	137982144	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:137982144G>A	uc010nar.2	+	2	570	c.254G>A	c.(253-255)TGT>TAT	p.C85Y	OLFM1_uc004cfl.3_Missense_Mutation_p.C67Y|OLFM1_uc004cfk.3_Missense_Mutation_p.C67Y|OLFM1_uc004cfm.3_Missense_Mutation_p.C85Y	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	85					nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CAGACCATGTGTTCACGGGAT	0.488000												
KCNT1	57582	broad.mit.edu	37	9	138677161	138677161	+	Silent	SNP	C	C	T	rs146272510	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:138677161C>T	uc011mdq.1	+	28	3236	c.3162C>T	c.(3160-3162)CAC>CAT	p.H1054H	KCNT1_uc011mdr.1_Silent_p.H881H|KCNT1_uc010nbf.2_Silent_p.H1009H|KCNT1_uc004cgo.1_Silent_p.H803H	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1054						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCAGCCCCACGACCTCAGAG	0.637000												
C9orf69	90120	broad.mit.edu	37	9	139008452	139008452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139008452G>T	uc004cgx.3	-	2	820	c.369C>A	c.(367-369)TGC>TGA	p.C123*	C9orf69_uc004cgy.2_RNA	NM_152833	NP_690046			hypothetical protein LOC90120												0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		CCCAGCAGCAGCAGCAGCACC	0.692000												
CARD9	64170	broad.mit.edu	37	9	139265834	139265834	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139265834C>T	uc004chg.3	-	3	430	c.264G>A	c.(262-264)CCG>CCA	p.P88P	CARD9_uc011mdw.1_Silent_p.P88P|CARD9_uc011mdx.1_5'UTR|CARD9_uc010nbj.2_Silent_p.P88P	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	88	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGTACAGCTGCGGGTAGTAGA	0.662000												
NOTCH1	4851	broad.mit.edu	37	9	139405214	139405214	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139405214C>T	uc004chz.2	-	17	2631	c.2631G>A	c.(2629-2631)CCG>CCA	p.P877P	NOTCH1_uc004cia.1_Silent_p.P107P	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	877	Extracellular (Potential).|EGF-like 23; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGCCGGCACGGGCTCAGAA	0.692000			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
C9orf86	55684	broad.mit.edu	37	9	139731890	139731890	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139731890T>C	uc004cji.1	+	9	1170	c.902T>C	c.(901-903)GTG>GCG	p.V301A	C9orf86_uc004cjj.1_Missense_Mutation_p.V302A|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.V301A|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.V186A|C9orf86_uc004cjn.1_Missense_Mutation_p.V95A	NM_024718	NP_078994	Q3YEC7	PARF_HUMAN	Rab-like GTP-binding protein 1 isoform 1	301	Pro-rich.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding				0	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CAGTCACCAGTGGTGCCTGCA	0.706000												
TRAF2	7186	broad.mit.edu	37	9	139815649	139815649	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:139815649C>T	uc010nbu.2	+	10	1293	c.1120C>T	c.(1120-1122)CCC>TCC	p.P374S	TRAF2_uc004cjv.2_Missense_Mutation_p.P374S|TRAF2_uc011mek.1_Missense_Mutation_p.P363S|TRAF2_uc010nbw.2_Missense_Mutation_p.P349S	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	374	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGGCCGCATACCCGCCATCTT	0.587000												
GRIN1	2902	broad.mit.edu	37	9	140055596	140055596	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140055596A>G	uc004clk.2	+	9	1616	c.1286A>G	c.(1285-1287)GAC>GGC	p.D429G	GRIN1_uc004cli.1_Missense_Mutation_p.D104G|GRIN1_uc004clj.1_Missense_Mutation_p.D426G|GRIN1_uc004cll.2_Missense_Mutation_p.D429G|GRIN1_uc004clm.2_Missense_Mutation_p.D429G|GRIN1_uc004cln.2_Missense_Mutation_p.D447G|GRIN1_uc004clo.2_Missense_Mutation_p.D447G	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	429	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTCAACGGCGACCCAGTCAAG	0.498000												
EHMT1	79813	broad.mit.edu	37	9	140672443	140672443	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140672443G>A	uc011mfc.1	+	13	2165	c.2128G>A	c.(2128-2130)GGC>AGC	p.G710S	EHMT1_uc004coa.2_Missense_Mutation_p.G710S|EHMT1_uc004cob.1_Missense_Mutation_p.G679S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	710					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCCAACTCCCGGCCTTTCCCA	0.602000												
CACNA1B	774	broad.mit.edu	37	9	140946568	140946568	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140946568T>C	uc004cog.2	+	25	3880	c.3735T>C	c.(3733-3735)AAT>AAC	p.N1245N	CACNA1B_uc011mfd.1_Silent_p.N775N|CACNA1B_uc004coi.2_Silent_p.N459N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1245	Extracellular (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGACATCAATACCATCAAGT	0.587000												
CACNA1B	774	broad.mit.edu	37	9	140948361	140948361	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:140948361C>A	uc004cog.2	+	26	4016	c.3871C>A	c.(3871-3873)CTC>ATC	p.L1291I	CACNA1B_uc011mfd.1_Missense_Mutation_p.L821I|CACNA1B_uc004coi.2_Missense_Mutation_p.L505I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1291	Helical; Name=S5 of repeat III; (Potential).|III.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTCTACATGCTCTTCATGTT	0.502000												
PPP2R3B	28227	broad.mit.edu	37	X	301654	301654	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:301654G>A	uc004cpg.2	-	10	1398	c.1197C>T	c.(1195-1197)TGC>TGT	p.C399C	PPP2R3B_uc004cpf.2_5'UTR	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'',	399	EF-hand.				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCAGGTCCATGCAGCGGAACC	0.682000												
ASMTL	8623	broad.mit.edu	37	X	1551188	1551188	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:1551188C>A	uc004cpx.1	-	6	594	c.483G>T	c.(481-483)TGG>TGT	p.W161C	ASMTL_uc011mhe.1_Missense_Mutation_p.W85C|ASMTL_uc004cpy.1_Missense_Mutation_p.W145C|ASMTL_uc011mhf.1_Missense_Mutation_p.W103C	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	161	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACGTATTCCCAGAGCAGCT	0.632000												
ZBED1	9189	broad.mit.edu	37	X	2408419	2408419	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:2408419G>A	uc004cqg.2	-	2	543	c.342C>T	c.(340-342)GCC>GCT	p.A114A	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Silent_p.A114A	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	114						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCCGTGGCCGGCCTTGACGG	0.682000												
WWC3	55841	broad.mit.edu	37	X	10107541	10107541	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:10107541G>T	uc004csx.3	+	22	3371	c.3173G>T	c.(3172-3174)GGG>GTG	p.G1058V	WWC3_uc010nds.2_Missense_Mutation_p.G722V|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	1058										ovary(4)	4						CAGCTGCGTGGGCAGAGCCAC	0.582000												
CLCN4	1183	broad.mit.edu	37	X	10181805	10181805	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:10181805C>T	uc004csy.3	+	11	2091	c.1661C>T	c.(1660-1662)GCG>GTG	p.A554V	CLCN4_uc011mid.1_Missense_Mutation_p.A460V	NM_001830	NP_001821	P51793	CLCN4_HUMAN	chloride channel 4	554	Helical; (By similarity).					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CCCCTGATGGCGGCGGCTGTG	0.537000												
HCCS	3052	broad.mit.edu	37	X	11133048	11133048	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:11133048A>C	uc004cuk.2	+	3	460	c.194A>C	c.(193-195)GAG>GCG	p.E65A	HCCS_uc004cuj.2_Missense_Mutation_p.E65A|HCCS_uc004cul.1_Missense_Mutation_p.E65A	NM_005333	NP_005324	P53701	CCHL_HUMAN	holocytochrome c synthase	65					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding				0						GAGTACGTGGAGTGTCCCATT	0.488000												
FRMPD4	9758	broad.mit.edu	37	X	12736157	12736157	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:12736157G>A	uc004cuz.1	+	16	3718	c.3212G>A	c.(3211-3213)CGA>CAA	p.R1071Q	FRMPD4_uc011mij.1_Missense_Mutation_p.R1063Q	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1071					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						GTGTCTTCACGAGACAGTCAA	0.493000												
PRPS2	5634	broad.mit.edu	37	X	12840909	12840909	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:12840909G>A	uc004cvb.2	+	7	1075	c.951G>A	c.(949-951)CCG>CCA	p.P317P	PRPS2_uc004cva.2_Silent_p.P320P|PRPS2_uc010nec.2_Silent_p.P195P	NM_002765	NP_002756	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	317					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity				0						GCCATGTCCCGCTATAAATCC	0.443000												
TXLNG	55787	broad.mit.edu	37	X	16836951	16836951	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:16836951T>C	uc004cxq.1	+	2	408	c.357T>C	c.(355-357)CCT>CCC	p.P119P	TXLNG_uc010ney.1_Intron	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	gamma-taxilin	119					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				lung(1)	1						CAGATCCCCCTGATGGTCAGC	0.438000												
CDKL5	6792	broad.mit.edu	37	X	18622406	18622406	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:18622406A>G	uc004cym.2	+	12	1615	c.1362A>G	c.(1360-1362)AAA>AAG	p.K454K	CDKL5_uc004cyn.2_Silent_p.K454K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	454					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					CTCAAAGCAAAGCTGGGACAC	0.502000												
ARX	170302	broad.mit.edu	37	X	25033714	25033714	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:25033714C>T	uc004dbp.3	-	1	352	c.141G>A	c.(139-141)GCG>GCA	p.A47A		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	aristaless related homeobox	47						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCAAGCTCTGCGCGGCTCCCA	0.612000												
MAGEB4	4115	broad.mit.edu	37	X	30260375	30260375	+	Silent	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:30260375T>A	uc004dcb.2	+	1	207	c.123T>A	c.(121-123)TCT>TCA	p.S41S	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	41				S -> P (in Ref. 6; AAH32852).						ovary(1)	1						CTCCTTCCTCTTCCTCATCTG	0.577000												
NR0B1	190	broad.mit.edu	37	X	30327190	30327190	+	Silent	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:30327190G>T	uc004dcf.3	-	1	306	c.291C>A	c.(289-291)CCC>CCA	p.P97P		NM_000475	NP_000466	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	97	4 X 67 AA tandem repeats.|2.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			ovary(1)|lung(1)	2					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCGTCGCCTCGGGCGCCTTCG	0.682000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DMD	1756	broad.mit.edu	37	X	32867885	32867885	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:32867885C>T	uc004dda.1	-	3	390	c.146G>A	c.(145-147)CGC>CAC	p.R49H	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.R45H|DMD_uc004ddb.1_Missense_Mutation_p.R41H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.R41H|DMD_uc010ngq.1_RNA|DMD_uc010ngr.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	49	CH 1.|Actin-binding.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393000												
CXorf22	170063	broad.mit.edu	37	X	35993834	35993834	+	Silent	SNP	A	A	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:35993834A>C	uc004ddj.2	+	15	2576	c.2517A>C	c.(2515-2517)CTA>CTC	p.L839L	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	839										large_intestine(1)|lung(1)|ovary(1)	3						GACACATCCTAGTGGTGGCAG	0.408000												
BCOR	54880	broad.mit.edu	37	X	39933920	39933920	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:39933920A>G	uc004den.3	-	4	971	c.679T>C	c.(679-681)TAC>CAC	p.Y227H	BCOR_uc004dep.3_Missense_Mutation_p.Y227H|BCOR_uc004deo.3_Missense_Mutation_p.Y227H|BCOR_uc004dem.3_Missense_Mutation_p.Y227H|BCOR_uc004deq.3_Missense_Mutation_p.Y227H	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	227					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						GCCAAGCTGTAGGACTGCTGA	0.562000												
USP9X	8239	broad.mit.edu	37	X	41077761	41077761	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:41077761T>C	uc004dfb.2	+	37	6979	c.6346T>C	c.(6346-6348)TTT>CTT	p.F2116L	USP9X_uc004dfc.2_Missense_Mutation_p.F2116L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2116					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GAGGGGTGCGTTTGCAAAACT	0.433000												
CASK	8573	broad.mit.edu	37	X	41390261	41390261	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:41390261T>C	uc004dfl.3	-	25	2550	c.2504A>G	c.(2503-2505)CAG>CGG	p.Q835R	CASK_uc004dfj.3_Missense_Mutation_p.Q380R|CASK_uc004dfk.3_Missense_Mutation_p.Q655R|CASK_uc004dfm.3_Missense_Mutation_p.Q812R|CASK_uc004dfn.3_Missense_Mutation_p.Q811R	NM_003688	NP_003679	O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein	840	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			ovary(3)|lung(2)|stomach(1)	6						GGGCATTACCTGAGGCTCCAC	0.517000												
NDUFB11	54539	broad.mit.edu	37	X	47003964	47003964	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47003964C>T	uc004dhd.2	-	1	646	c.115G>A	c.(115-117)GCC>ACC	p.A39T	NDUFB11_uc004dhc.2_Missense_Mutation_p.A39T|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank	NM_001135998	NP_001129470	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	39					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I					0						GCGGACGGGGCGACCACAGTC	0.657000											OREG0019755	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RBM10	8241	broad.mit.edu	37	X	47030579	47030579	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47030579G>T	uc004dhf.2	+	4	733	c.354G>T	c.(352-354)GAG>GAT	p.E118D	RBM10_uc004dhe.1_Missense_Mutation_p.E108D|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_Missense_Mutation_p.E118D|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_Missense_Mutation_p.E183D	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	118	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						aggaggaggaggaggatgagg	0.522000												
CDK16	5127	broad.mit.edu	37	X	47088020	47088020	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47088020G>T	uc004dho.2	+	15	1826	c.1430G>T	c.(1429-1431)CGG>CTG	p.R477L	CDK16_uc011mli.1_Missense_Mutation_p.R483L|CDK16_uc011mlk.1_Missense_Mutation_p.R484L|CDK16_uc011mll.1_Missense_Mutation_p.R551L	NM_006201	NP_006192	Q00536	CDK16_HUMAN	PCTAIRE protein kinase 1 isoform 1	477							ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)	1						GCCAGCCTTCGGTCTTCGTCG	0.532000												
ZNF41	7592	broad.mit.edu	37	X	47307846	47307846	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47307846G>A	uc004dhs.3	-	4	1516	c.1449C>T	c.(1447-1449)TGC>TGT	p.C483C	ZNF41_uc004dhu.3_Silent_p.C475C|ZNF41_uc004dht.3_Silent_p.C355C|ZNF41_uc004dhv.3_Silent_p.C451C|ZNF41_uc004dhw.3_Silent_p.C443C|ZNF41_uc004dhy.3_Silent_p.C441C|ZNF41_uc004dhx.3_Silent_p.C441C|ZNF41_uc011mlm.1_Silent_p.C355C	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	483	C2H2-type 7.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)				CACAGTCAGCGCATACATAAG	0.433000												
SYN1	6853	broad.mit.edu	37	X	47434574	47434574	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:47434574G>A	uc004die.2	-	10	1387	c.1258C>T	c.(1258-1260)CGG>TGG	p.R420W	SYN1_uc004did.2_Missense_Mutation_p.R420W	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	420	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1						TGTCGCTGCCGGGGCAGGGCC	0.652000												
RBM3	5935	broad.mit.edu	37	X	48434786	48434786	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:48434786C>T	uc004dkf.1	+	4	434	c.295C>T	c.(295-297)CGT>TGT	p.R99C	RBM3_uc004dkd.1_RNA|RBM3_uc004dkg.2_Missense_Mutation_p.R99C	NM_006743	NP_006734	P98179	RBM3_HUMAN	RNA binding motif protein 3	99	Gly-rich.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1						GGCCCATGGGCGTGGTCGCAG	0.527000												
DGKK	139189	broad.mit.edu	37	X	50111965	50111965	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:50111965G>T	uc010njr.1	-	29	3850	c.3790C>A	c.(3790-3792)CTA>ATA	p.L1264I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1264	Required for localization to the plasma membrane.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GATGGTGTTAGAGGATCATCA	0.403000												
GPR173	54328	broad.mit.edu	37	X	53106174	53106174	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:53106174C>T	uc004dru.2	+	2	629	c.371C>T	c.(370-372)GCC>GTC	p.A124V		NM_018969	NP_061842	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	124	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1						CGCTACATGGCCATCGCCCAC	0.587000												
PHF8	23133	broad.mit.edu	37	X	54011391	54011391	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:54011391T>C	uc004dsu.2	-	18	2580	c.2507A>G	c.(2506-2508)GAT>GGT	p.D836G	PHF8_uc004dst.2_Missense_Mutation_p.D800G|PHF8_uc004dsv.2_Missense_Mutation_p.D666G|PHF8_uc004dsw.2_Missense_Mutation_p.D699G|PHF8_uc004dsx.2_Missense_Mutation_p.D564G|PHF8_uc004dsy.2_Missense_Mutation_p.D783G	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	836					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3						GTCCTGTTCATCCAGACTGGC	0.592000												
ITIH5L	347365	broad.mit.edu	37	X	54780118	54780118	+	Silent	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:54780118C>A	uc004dtj.2	-	11	3348	c.3318G>T	c.(3316-3318)GGG>GGT	p.G1106G		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1106					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						GCAGCAAGTCCCCAGGGTGCC	0.512000												
TRO	7216	broad.mit.edu	37	X	54949009	54949009	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:54949009A>G	uc004dtq.2	+	3	153	c.46_splice	c.e3-2	p.G16_splice	TRO_uc011moj.1_Splice_Site|TRO_uc004dts.2_Splice_Site_p.G16_splice|TRO_uc004dtr.2_Splice_Site_p.G16_splice|TRO_uc004dtt.2_Splice_Site|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5						embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1						CTAAGTGTGTAGGGCCCTCTG	0.547000												
ALAS2	212	broad.mit.edu	37	X	55035639	55035639	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:55035639G>A	uc004dua.3	-	11	1876	c.1738C>T	c.(1738-1740)CCC>TCC	p.P580S	ALAS2_uc004dub.3_Missense_Mutation_p.P567S|ALAS2_uc004dud.3_Missense_Mutation_p.P543S	NM_000032	NP_000023	P22557	HEM0_HUMAN	5-aminolevulinate synthase 2 isoform a	580					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(1)	1					Glycine(DB00145)	ACATACTGGGGCCCCATGTTC	0.562000												
FOXR2	139628	broad.mit.edu	37	X	55650415	55650415	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:55650415G>T	uc004duo.2	+	1	583	c.271G>T	c.(271-273)GGC>TGC	p.G91C		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	91					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(2)|central_nervous_system(1)	3						GTGCCCCCTTGGCAGCCAGGA	0.542000												
DLG3	1741	broad.mit.edu	37	X	69669273	69669273	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:69669273C>A	uc004dyi.1	+	3	801	c.473C>A	c.(472-474)CCT>CAT	p.P158H	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	158	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					CCTGATGACCCTGGCATCTTT	0.572000												
NLGN3	54413	broad.mit.edu	37	X	70386936	70386936	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:70386936A>G	uc004dzd.1	+	6	1189	c.989A>G	c.(988-990)TAC>TGC	p.Y330C	NLGN3_uc010nlb.1_Missense_Mutation_p.Y290C|NLGN3_uc004dzb.2_Missense_Mutation_p.Y310C|NLGN3_uc004dzc.2_Missense_Mutation_p.Y193C|NLGN3_uc011mps.1_Missense_Mutation_p.Y290C|NLGN3_uc004dze.2_Missense_Mutation_p.Y128C	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	330	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					CCAGTGAAGTACACCAGCCTG	0.537000												
TAF1	6872	broad.mit.edu	37	X	70613283	70613283	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:70613283C>T	uc004dzu.3	+	21	3232	c.3181C>T	c.(3181-3183)CGT>TGT	p.R1061C	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R1082C|TAF1_uc004dzv.3_Missense_Mutation_p.R235C	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1061					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)				GCATCAAGAGCGTTACAAAGA	0.507000												
RPS4X	6191	broad.mit.edu	37	X	71495454	71495454	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:71495454G>A	uc004ear.2	-	3	298	c.202C>T	c.(202-204)CGG>TGG	p.R68W	RPS4X_uc011mqb.1_Missense_Mutation_p.R68W	NM_001007	NP_000998	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked X isoform	68	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0	Renal(35;0.156)					TTAATGAACCGCTGCATGCAA	0.443000												
KIAA2022	340533	broad.mit.edu	37	X	73963421	73963421	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:73963421T>C	uc004eby.2	-	3	1588	c.971A>G	c.(970-972)AAG>AGG	p.K324R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	324					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						AAGAGTAGTCTTGTCTCGAAC	0.448000												
UPRT	139596	broad.mit.edu	37	X	74513339	74513339	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:74513339C>T	uc004ecb.1	+	2	548	c.419C>T	c.(418-420)GCG>GTG	p.A140V	UPRT_uc010nlu.1_Missense_Mutation_p.A140V|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.A140V|UPRT_uc004ece.1_Missense_Mutation_p.A4V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog	140					nucleoside metabolic process	cytoplasm|nucleus					0						ATGTTTTCTGCGGATCGTTTG	0.348000												
ATRX	546	broad.mit.edu	37	X	76763847	76763847	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:76763847G>A	uc004ecp.3	-	35	7693	c.7461C>T	c.(7459-7461)TCC>TCT	p.S2487S	ATRX_uc004ecq.3_Silent_p.S2449S|ATRX_uc004eco.3_Silent_p.S2272S	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2487					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	ATTTCCCTTGGGAAGGTCCTG	0.398000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome					
ATP7A	538	broad.mit.edu	37	X	77258620	77258620	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:77258620T>C	uc004ecx.3	+	6	1754	c.1594T>C	c.(1594-1596)TAT>CAT	p.Y532H	ATP7A_uc004ecw.2_Missense_Mutation_p.Y532H	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	532	HMA 5.|Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AGAAGTAAGGTATAATCCTGC	0.388000												
ZCCHC5	203430	broad.mit.edu	37	X	77913465	77913465	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:77913465T>C	uc004edc.1	-	2	749	c.453A>G	c.(451-453)CAA>CAG	p.Q151Q		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	151	Pro-rich.						nucleic acid binding|zinc ion binding			ovary(1)	1						TCTTGGGCTCTTGGGCTATTG	0.562000												
POU3F4	5456	broad.mit.edu	37	X	82763572	82763572	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:82763572C>T	uc004eeg.2	+	1	304	c.240C>T	c.(238-240)GAC>GAT	p.D80D		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	80					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACCAGCAGGACGTGAAGCCCG	0.662000												
POU3F4	5456	broad.mit.edu	37	X	82764266	82764266	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:82764266G>A	uc004eeg.2	+	1	998	c.934G>A	c.(934-936)GCA>ACA	p.A312T		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	312	Homeobox.		A -> V (in DFNX2).		sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCCTCGCTGGCAGACAGCCT	0.567000												
NAP1L3	4675	broad.mit.edu	37	X	92928199	92928199	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:92928199G>A	uc004efq.2	-	1	410	c.105C>T	c.(103-105)AGC>AGT	p.S35S	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	35	Ser-rich.				nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						tagagctactgctgTCAGATT	0.244000												
DIAPH2	1730	broad.mit.edu	37	X	96354737	96354737	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:96354737A>G	uc004efu.3	+	20	2688	c.2292A>G	c.(2290-2292)TTA>TTG	p.L764L	DIAPH2_uc004eft.3_Silent_p.L764L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	764	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						TCAACGAATTAGCAGAGCTTA	0.353000												
GLA	2717	broad.mit.edu	37	X	100656740	100656740	+	Missense_Mutation	SNP	C	C	T	rs104894845	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:100656740C>T	uc004ehl.1	-	3	537	c.427G>A	c.(427-429)GCA>ACA	p.A143T	GLA_uc011mrj.1_Missense_Mutation_p.A143T	NM_000169	NP_000160	P06280	AGAL_HUMAN	alpha-galactosidase A precursor	143			A -> P (in FD).|A -> T (in FD).		glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding				0					Agalsidase beta(DB00103)	GGGAAGCCTGCGCAGGTTTTA	0.453000												
BEX5	340542	broad.mit.edu	37	X	101409129	101409129	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:101409129C>T	uc010nnz.2	-	3	411	c.109G>A	c.(109-111)GGG>AGG	p.G37R	BEX5_uc004eir.2_Missense_Mutation_p.G37R	NM_001159560	NP_001153032	Q5H9J7	BEX5_HUMAN	brain expressed, X-linked 5	37						cytoplasm				upper_aerodigestive_tract(1)	1						GCCCAAACCCCTTTAACATTT	0.507000												
GPRASP1	9737	broad.mit.edu	37	X	101912464	101912464	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:101912464C>T	uc004ejj.3	+	5	4424	c.3623C>T	c.(3622-3624)CCG>CTG	p.P1208L	GPRASP1_uc004eji.3_Missense_Mutation_p.P1208L|GPRASP1_uc010nod.2_Missense_Mutation_p.P1208L	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1208	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CTTAATTATCCGTCCTCCCGA	0.378000												
NRK	203447	broad.mit.edu	37	X	105168921	105168921	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:105168921A>G	uc004emd.2	+	19	3513	c.3210A>G	c.(3208-3210)GAA>GAG	p.E1070E	NRK_uc010npc.1_Silent_p.E738E	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1070							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						GAACCAGTGAAGAGAGTGGAG	0.488000										HNSCC(51;0.14)		
IRS4	8471	broad.mit.edu	37	X	107977919	107977919	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:107977919G>A	uc004eoc.2	-	1	1689	c.1656C>T	c.(1654-1656)ACC>ACT	p.T552T		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	552						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						GCCCACCTGCGGTGCCCTGGC	0.642000												
ACSL4	2182	broad.mit.edu	37	X	108926679	108926679	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:108926679G>A	uc004eoi.2	-	4	542	c.37C>T	c.(37-39)CTG>TTG	p.L13L	ACSL4_uc004eoj.2_Intron|ACSL4_uc004eok.2_Intron|ACSL4_uc010npp.1_Silent_p.L13L	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	13	Helical; Signal-anchor for type III membrane protein; (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)	TGGACAGGCAGCAAAATAATG	0.343000												
AGTR2	186	broad.mit.edu	37	X	115304470	115304470	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:115304470G>A	uc004eqh.3	+	3	1144	c.937G>A	c.(937-939)GTT>ATT	p.V313I		NM_000686	NP_000677	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	313	Helical; Name=7; (Potential).				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			ovary(2)|lung(1)	3						CAACAGCTGCGTTAATCCGTT	0.473000												
C1GALT1C1	29071	broad.mit.edu	37	X	119760807	119760807	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:119760807A>G	uc004esy.2	-	3	562	c.215T>C	c.(214-216)ATT>ACT	p.I72T	C1GALT1C1_uc004esz.2_Missense_Mutation_p.I72T	NM_152692	NP_689905	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	72	Lumenal (Potential).					integral to membrane					0						TACAAGGATAATACAGTATAC	0.408000												
THOC2	57187	broad.mit.edu	37	X	122767863	122767863	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:122767863C>G	uc004etu.2	-	20	2109	c.2077G>C	c.(2077-2079)GAG>CAG	p.E693Q	THOC2_uc011muh.1_Missense_Mutation_p.E618Q	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	693					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GTCATTTCCTCTGTAATTTCT	0.333000												
DCAF12L2	340578	broad.mit.edu	37	X	125299809	125299809	+	Silent	SNP	T	T	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:125299809T>G	uc004euk.1	-	1	126	c.99A>C	c.(97-99)GGA>GGC	p.G33G		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	33										lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						GAGGCCCCTCTCCGTCCGCCG	0.701000												
FAM127A	8933	broad.mit.edu	37	X	134166474	134166474	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:134166474C>T	uc004eyd.2	+	1	142	c.61C>T	c.(61-63)CGT>TGT	p.R21C	uc004eye.1_RNA	NM_001078171	NP_001071639	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	21											0	Acute lymphoblastic leukemia(192;0.000127)					GCCTGCGACGCGTCGCTGGAG	0.637000												
SAGE1	55511	broad.mit.edu	37	X	134989589	134989589	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:134989589C>T	uc004ezh.2	+	9	1162	c.995C>T	c.(994-996)CCG>CTG	p.P332L	SAGE1_uc010nry.1_Missense_Mutation_p.P301L|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	332										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTATTCCGGGCATGAAT	0.393000												
SLC9A6	10479	broad.mit.edu	37	X	135126867	135126867	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:135126867G>A	uc004ezj.2	+	16	2070	c.1994G>A	c.(1993-1995)AGA>AAA	p.R665K	SLC9A6_uc004ezk.2_Missense_Mutation_p.R697K	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	665					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					GATAATACGAGACATGGTCCA	0.413000												
GPR112	139378	broad.mit.edu	37	X	135494468	135494468	+	Missense_Mutation	SNP	C	C	T	rs144761853		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:135494468C>T	uc004ezu.1	+	24	9271	c.8980C>T	c.(8980-8982)CGG>TGG	p.R2994W	GPR112_uc010nsb.1_Missense_Mutation_p.R2789W	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2994	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					GGAGAGTGTGCGGGAGCAGTG	0.423000												
F9	2158	broad.mit.edu	37	X	138643970	138643970	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:138643970C>T	uc004fas.1	+	8	1155	c.1126C>T	c.(1126-1128)CTT>TTT	p.L376F	F9_uc004fat.1_Missense_Mutation_p.L338F	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	376	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TAGAGTTCCACTTGTTGACCG	0.443000												
SOX3	6658	broad.mit.edu	37	X	139586054	139586054	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:139586054C>T	uc004fbd.1	-	1	1172	c.1172G>A	c.(1171-1173)CGC>CAC	p.R391H		NM_005634	NP_005625	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	391					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			pancreas(1)	1	Acute lymphoblastic leukemia(192;7.65e-05)					GAGGCACGCGCGCTGAGAGTG	0.652000												
SPANXE	171489	broad.mit.edu	37	X	140785702	140785702	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:140785702C>T	uc004fbq.2	-	2	307	c.214G>A	c.(214-216)GCC>ACC	p.A72T		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	SPANX family, member E	72						cytoplasm|nucleus					0	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTTTCGGGCGTGGTCATTC	0.433000												
FMR1	2332	broad.mit.edu	37	X	147010206	147010206	+	Silent	SNP	T	T	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:147010206T>C	uc010nst.2	+	5	489	c.300T>C	c.(298-300)GAT>GAC	p.D100D	FMR1_uc011mwz.1_Silent_p.D100D|FMR1_uc004fcj.2_Silent_p.D100D|FMR1_uc004fck.3_Silent_p.D100D|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	100					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCATGTGATGCAACTTACA	0.328000									Fragile_X_syndrome			
AFF2	2334	broad.mit.edu	37	X	148048440	148048440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:148048440G>A	uc004fcp.2	+	14	3513	c.3034G>A	c.(3034-3036)GCC>ACC	p.A1012T	AFF2_uc004fcq.2_Missense_Mutation_p.A1002T|AFF2_uc004fcr.2_Missense_Mutation_p.A973T|AFF2_uc011mxb.1_Missense_Mutation_p.A977T|AFF2_uc004fcs.2_Missense_Mutation_p.A977T|AFF2_uc011mxc.1_Missense_Mutation_p.A653T	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1012					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					tactgccaccgccacggccac	0.199000												
IDS	3423	broad.mit.edu	37	X	148564565	148564565	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:148564565A>G	uc011mxe.1	-	9	1563	c.1365T>C	c.(1363-1365)GGT>GGC	p.G455G	IDS_uc011mxd.1_Silent_p.G58G|IDS_uc011mxf.1_Silent_p.G365G|IDS_uc011mxg.1_Silent_p.G244G|IDS_uc010nsu.1_Silent_p.G65G|IDS_uc004fcw.3_Silent_p.G244G	NM_000202	NP_000193	P22304	IDS_HUMAN	iduronate-2-sulfatase isoform a precursor	455						lysosome	iduronate-2-sulfatase activity|metal ion binding				0	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CACGGGGATTACCAGGGAGGT	0.488000												
MTM1	4534	broad.mit.edu	37	X	149818248	149818248	+	Silent	SNP	A	A	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:149818248A>G	uc004fef.3	+	10	1003	c.927A>G	c.(925-927)TTA>TTG	p.L309L	MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Silent_p.L272L|MTM1_uc011mxz.1_Silent_p.L194L|MTM1_uc010nte.2_Silent_p.L177L	NM_000252	NP_000243	Q13496	MTM1_HUMAN	myotubularin	309	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCTTCTTAGACATTCATA	0.343000												
GPR50	9248	broad.mit.edu	37	X	150348483	150348483	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:150348483G>A	uc010ntg.1	+	2	563	c.428G>A	c.(427-429)CGC>CAC	p.R143H	uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.R143H	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	143	Cytoplasmic (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGTGTGCGCAATACCTGC	0.537000												
GABRA3	2556	broad.mit.edu	37	X	151366135	151366135	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:151366135T>A	uc010ntk.1	-	8	1141	c.901A>T	c.(901-903)AGA>TGA	p.R301*		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	301					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACAGACTCTCTGTTGAGCCAG	0.463000												
ZNF275	10838	broad.mit.edu	37	X	152612854	152612854	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:152612854C>T	uc004fhg.1	+	4	888	c.711C>T	c.(709-711)TTC>TTT	p.F237F	ZNF275_uc011mym.1_Silent_p.F237F|ZNF275_uc011myn.1_Silent_p.F174F			A6NFS0	A6NFS0_HUMAN	SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;	237						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGCCTTTCGCCTGCAAGG	0.577000												
ABCD1	215	broad.mit.edu	37	X	152994806	152994806	+	Silent	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:152994806C>T	uc004fif.2	+	2	1419	c.1020C>T	c.(1018-1020)AGC>AGT	p.S340S		NM_000033	NP_000024	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member	340	ABC transmembrane type-1.|Helical; (Potential).				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGTGTGGAGCGCCTCGGGCC	0.597000												
PLXNB3	5365	broad.mit.edu	37	X	153040502	153040502	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153040502C>T	uc004fii.2	+	24	4273	c.4099C>T	c.(4099-4101)CGC>TGC	p.R1367C	PLXNB3_uc010nuk.2_Missense_Mutation_p.R1390C|PLXNB3_uc011mzd.1_Missense_Mutation_p.R1006C|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN	plexin B3 isoform 1	1367	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			lung(1)	1	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCACTGTGCGCCAGGGCCT	0.697000												
DNASE1L1	1774	broad.mit.edu	37	X	153631131	153631131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153631131G>A	uc004fks.1	-	8	1017	c.826C>T	c.(826-828)CAG>TAG	p.Q276*	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Nonsense_Mutation_p.Q276*|DNASE1L1_uc004fku.1_Nonsense_Mutation_p.Q276*|DNASE1L1_uc004fkv.1_Nonsense_Mutation_p.Q276*|DNASE1L1_uc004fkw.1_Nonsense_Mutation_p.Q276*	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	276					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTGCGCCTGGCTCAGCTTC	0.657000												
PLXNA3	55558	broad.mit.edu	37	X	153691740	153691740	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153691740G>A	uc004flm.2	+	5	1497	c.1324G>A	c.(1324-1326)GTC>ATC	p.V442I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	442	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGGTGCGGGTCGATGGCTT	0.617000												
G6PD	2539	broad.mit.edu	37	X	153761218	153761218	+	Silent	SNP	G	G	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:153761218G>A	uc004fly.1	-	9	1103	c.990C>T	c.(988-990)CGC>CGT	p.R330R	G6PD_uc004flx.1_Silent_p.R360R	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	330					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGACCCGCGGGGCACCG	0.637000												
FERMT3	83706	broad.mit.edu	37	11	63987799	63987802	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63987799_63987802delGTGA	uc001nyl.2	+	11	1472	c.1323_splice	c.e11+1	p.D441_splice	FERMT3_uc001nym.2_Splice_Site_p.D437_splice	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form						integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						GTGCCAGGATGTGAGTGAgggctg	0.412												
ADAMTS17	170691	broad.mit.edu	37	15	100801843	100801844	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:100801843_100801844insA	uc002bvv.1	-	6	953	c.874_splice	c.e6-1	p.A292_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.A49_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAACTTAGCCTAAAAAAAGTCA	0.510												
PREPL	9581	broad.mit.edu	37	2	44550553	44550553	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:44550552_44550552TA>T	uc002ruf.3	-	11	2706	c.1747_splice	c.e11-1	p.A583_splice	PREPL_uc002rug.3_Splice_Site_p.A517_splice|PREPL_uc002ruh.3_Splice_Site_p.A521_splice|PREPL_uc010fax.3_Splice_Site_p.A583_splice|PREPL_uc002rui.4_Splice_Site_p.A494_splice|PREPL_uc002ruj.2_Splice_Site_p.A494_splice|PREPL_uc002ruk.2_Splice_Site_p.A583_splice	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	583					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAGGTGCCTAAAAAAAAGG	0.333												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
MTIF2	4528	broad.mit.edu	37	2	55491004	55491004	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:55491003_55491003TG>T	uc002ryn.3	-	5	731	c.-6_splice	c.e5-1		MTIF2_uc010yox.2_Splice_Site|MTIF2_uc002ryo.3_Splice_Site|MTIF2_uc002ryp.1_Intron	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ATGTTTCTCCTGGGGAAAAAA	0.343												
POU4F2	5458	broad.mit.edu	37	4	147560292	147560294	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:147560291_147560293AGAT>A	uc003ikv.3	+	0						NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.						MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCGGGCGGGAAGATGATGATGAT	0.685												
DTNBP1	84062	broad.mit.edu	37	6	15638038	15638038	+	Splice_Site	DEL	A	A	-	rs140124163		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome			
PRSS16	10279	broad.mit.edu	37	6	27218823	27218823	+	Splice_Site	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:27218822_27218822TC>T	uc003nja.3	+	6	607	c.592_splice	c.e6-1	p.F198_splice	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Splice_Site_p.F88_splice|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	198					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCCCTTAGTTCCCCCATCTC	0.597												
PDE10A	10846	broad.mit.edu	37	6	165844963	165844963	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACA	0.328												
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:151836878_151836878TA>T	uc003wla.3	-	56	14563	c.14344_splice	c.e56-1	p.G4782_splice	MLL3_uc003wkz.3_Splice_Site_p.G3896_splice|MLL3_uc003wkx.3_Splice_Site_p.G940_splice|MLL3_uc003wky.3_Splice_Site_p.G2342_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4782	SET.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCCAGCCCCTAAAAAAAAGT	0.413			N		medulloblastoma							
RASEF	158158	broad.mit.edu	37	9	85615234	85615234	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:85615233_85615233TG>T	uc004amo.1	-	12	1837	c.1576_splice	c.e12-1	p.T526_splice		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	526					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGGTCTGTCTGGGGGGAAAA	0.443												
RAB14	51552	broad.mit.edu	37	9	123954450	123954450	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:123954449_123954449AT>A	uc004blc.3	-	3	562	c.106_splice	c.e3+1	p.F36_splice		NM_016322	NP_057406	P61106	RAB14_HUMAN	Homo sapiens RAB14, member RAS oncogene family (RAB14), mRNA.	36					Golgi to endosome transport|embryo development|fibroblast growth factor receptor signaling pathway|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	Golgi membrane|Golgi stack|cytosol|early endosome membrane|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGAACTTACATTTTTTTTCT	0.294												
ABL1	25	broad.mit.edu	37	9	133748246	133748246	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:133748245_133748245AG>A	uc004bzw.3	+	6	911	c.908_splice	c.e6-2	p.G303_splice	ABL1_uc004bzv.3_Splice_Site_p.G322_splice	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	303	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCTTGTTGGCAGGGGTCTGCA	0.537			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
HERC4	26091	broad.mit.edu	37	10	69750775	69750776	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:69750774_69750775T>TA	uc001jng.4	-	13	1643	c.1332_splice	c.e13-1	p.S444_splice	HERC4_uc009xpq.3_Splice_Site|HERC4_uc001jnf.4_Splice_Site|HERC4_uc001jnh.4_Splice_Site_p.S444_splice|HERC4_uc009xpr.3_Splice_Site_p.S444_splice|HERC4_uc001jni.4_Splice_Site_p.S188_splice|HERC4_uc021prr.1_5'Flank	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	444					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCATCATTGCTaaaaaacagaa	0.262												
NALCN	259232	broad.mit.edu	37	13	101755524	101755525	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:101755523_101755524C>CA	uc001vox.1	-	26	3246	c.3057_splice	c.e26+1	p.L1019_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1019						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCACATACCAAAAAAATTTC	0.431												
SPPL2A	84888	broad.mit.edu	37	15	51028402	51028402	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:51028401_51028401TA>T	uc001zyv.3	-	8	1011	c.831_splice	c.e8-1	p.T277_splice		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	277						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CATGCAATCCTAAAAAACAGA	0.358												
SCAMP2	10066	broad.mit.edu	37	15	75146364	75146364	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:75146363_75146363TG>T	uc002azb.1	-	3	299	c.225_splice	c.e3+1	p.Q75_splice	SCAMP2_uc002aza.1_Splice_Site	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	75					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAGCACTACCTGGGGGGTCGG	0.572												
ADAMTS17	170691	broad.mit.edu	37	15	100801844	100801845	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:100801843_100801844T>TA	uc002bvv.1	-	6	953	c.874_splice	c.e6-1	p.A292_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.A49_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	292	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAACTTAGCCTAAAAAAAGTCA	0.510												
JUP	3728	broad.mit.edu	37	17	39923835	39923835	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:39923834_39923834TG>T	uc002hxq.2	-	5	985	c.708_splice	c.e5-1	p.S236_splice	JUP_uc010wfs.2_Splice_Site_p.S236_splice|JUP_uc002hxr.2_Splice_Site_p.S236_splice|JUP_uc002hxs.2_Splice_Site_p.S236_splice	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	236					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ACAGGGGAGCTGGGGGGGTGG	0.662												
MYOM1	8736	broad.mit.edu	37	18	3116516	3116517	+	Splice_Site	DEL	GA	GA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:3116515_3116516TGA>T	uc002klp.3	-	21	3453	c.3119_splice	c.e21-1	p.G1040_splice	MYOM1_uc002klq.3_Splice_Site_p.G944_splice	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1040	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGGTGGTCCTGAGAGAGAGAG	0.495												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
MAPK12	6300	broad.mit.edu	37	22	50696733	50696734	+	Splice_Site	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50696732_50696733T>TG	uc003bkm.1	-	3	407	c.256_splice	c.e3-1	p.V86_splice	MAPK12_uc003bko.2_Splice_Site_p.V6_splice|MAPK12_uc003bkl.1_Splice_Site_p.V86_splice|MAPK12_uc003bkq.2_Splice_Site|MAPK12_uc010haw.3_Splice_Site_p.V86_splice	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	86	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding	p.?(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGATCACCTGGGGGGGCCAC	0.639												
SMPX	23676	broad.mit.edu	37	X	21772423	21772423	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:21772422_21772422TA>T	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAA	0.408												
CAMTA1	23261	broad.mit.edu	37	1	7724522	7724522	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:7724522delG	uc001aoi.2	+	9	2122	c.1915delG	c.(1915-1917)GGGfs	p.G639fs		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAGTGACTCTGGGGGCACCTT	0.647												
EPHA2	1969	broad.mit.edu	37	1	16475133	16475133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:16475133delC	uc001aya.1	-	3	700	c.563delG	c.(562-564)TGTfs	p.C188fs	EPHA2_uc010oca.1_Frame_Shift_Del_p.C188fs	NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	188	Extracellular (Potential).|Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAGCGCCACACAGGCACCGAT	0.642												
MACF1	23499	broad.mit.edu	37	1	39797891	39797892	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:39797891_39797892insA	uc010oiu.1	+	1	1082_1083	c.951_952insA	c.(949-954)CATAAAfs	p.H317fs	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	1882_1883	Plectin 5.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACTAGCACATAAAATCCTTAG	0.446												
INADL	10207	broad.mit.edu	37	1	62267407	62267407	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:62267407delA	uc001dab.2	+	12	1629	c.1515delA	c.(1513-1515)TTAfs	p.L505fs	INADL_uc009waf.1_Frame_Shift_Del_p.L505fs|INADL_uc001daa.2_Frame_Shift_Del_p.L505fs|INADL_uc001dad.3_Frame_Shift_Del_p.L202fs	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	505					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TTGATACTTTAAAAAATGACA	0.353												
PDE4B	5142	broad.mit.edu	37	1	66831383	66831384	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:66831383_66831384insT	uc001dcn.2	+	13	1509_1510	c.1318_1319insT	c.(1318-1320)ATTfs	p.I440fs	PDE4B_uc009war.2_Frame_Shift_Ins_p.I348fs|PDE4B_uc001dco.2_Frame_Shift_Ins_p.I440fs|PDE4B_uc001dcp.2_Frame_Shift_Ins_p.I425fs|PDE4B_uc001dcq.2_Frame_Shift_Ins_p.I268fs|PDE4B_uc009was.2_Frame_Shift_Ins_p.I207fs	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	440					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCTGGCTGCCATTTTTGCAGCT	0.431												
WNT2B	7482	broad.mit.edu	37	1	113057511	113057511	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:113057511delG	uc001ecb.2	+	2	713	c.198delG	c.(196-198)CTGfs	p.L66fs	WNT2B_uc001eca.2_Frame_Shift_Del_p.L47fs|WNT2B_uc009wgg.2_5'UTR	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family,	66					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			ovary(2)|breast(2)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGGGCACTGGGGGCACGAG	0.567												
ADAM30	11085	broad.mit.edu	37	1	120437823	120437823	+	Frame_Shift_Del	DEL	A	A	-	rs139123456		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:120437823delA	uc001eij.2	-	1	1291	c.1137delT	c.(1135-1137)TTTfs	p.F379fs		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	379	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGATATGTTTAAAAAAAGAGA	0.398												
ADAMTSL4	54507	broad.mit.edu	37	1	150531044	150531044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:150531044delC	uc001eux.2	+	15	2714	c.2478delC	c.(2476-2478)GGCfs	p.G826fs	ADAMTSL4_uc001euw.2_Frame_Shift_Del_p.G826fs|ADAMTSL4_uc009wlw.2_Frame_Shift_Del_p.G849fs|ADAMTSL4_uc010pcg.1_Frame_Shift_Del_p.G787fs|ADAMTSL4_uc009wlx.2_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	826	TSP type-1 3.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTGCGTCAGGCCCCCCGCAGC	0.662												
ASH1L	55870	broad.mit.edu	37	1	155449752	155449753	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155449752_155449753insT	uc009wqq.2	-	3	3388_3389	c.2908_2909insA	c.(2908-2910)ATTfs	p.I970fs	ASH1L_uc001fkt.2_Frame_Shift_Ins_p.I970fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.I970fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	970					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTCTTGGTAATTTTTTTATCT	0.351												
IPO9	55705	broad.mit.edu	37	1	201817522	201817523	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:201817522_201817523insA	uc001gwz.2	+	4	364_365	c.314_315insA	c.(313-315)GCAfs	p.A105fs		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	105	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CCCTTACAGGCAAAAATTGTTA	0.460												
PLEKHA6	22874	broad.mit.edu	37	1	204210879	204210880	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204210879_204210880insG	uc001hau.2	-	16	2552_2553	c.2235_2236insC	c.(2233-2238)CCCAGAfs	p.P745fs	PLEKHA6_uc009xau.1_RNA	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	phosphoinositol 3-phosphate-binding protein-3	745_746										ovary(3)|pancreas(1)	4	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGATGTCTCTGGGGGTGTCCA	0.520												
KMO	8564	broad.mit.edu	37	1	241753345	241753345	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:241753345delT	uc009xgp.2	+	13	1195	c.1130delT	c.(1129-1131)ATTfs	p.I377fs	KMO_uc001hyy.2_Intron|KMO_uc009xgo.1_Frame_Shift_Del_p.I377fs	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	377					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AGCTGGTTCATTTTTCAGAAG	0.393												
CEP170	9859	broad.mit.edu	37	1	243388559	243388560	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:243388559_243388560insA	uc001hzs.2	-	2	431_432	c.23_24insT	c.(22-24)TTGfs	p.L8fs	CEP170_uc001hzt.2_Frame_Shift_Ins_p.L8fs|CEP170_uc001hzu.2_Frame_Shift_Ins_p.L8fs	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	8						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)			CACTGCTCACCAAAAACCAGGA	0.426												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:890939delT	uc001ifs.1	-	5	528	c.487delA	c.(487-489)ACAfs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			ovary(2)|central_nervous_system(1)	3						AATTCCAATGTTTTTTTAAGT	0.353												
GPR158	57512	broad.mit.edu	37	10	25861746	25861746	+	Frame_Shift_Del	DEL	G	G	-	rs138208272		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:25861746delG	uc001isj.2	+	7	1743	c.1683delG	c.(1681-1683)CAGfs	p.Q561fs		NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	561	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						TTATTGGCCAGGGGAAAACAT	0.453												
APBB1IP	54518	broad.mit.edu	37	10	26856274	26856274	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:26856274delC	uc001iss.2	+	15	2179	c.1858delC	c.(1858-1860)CCCfs	p.P620fs		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	620	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						cgccAGGCCGCCCCCCGCGGT	0.498												
ERCC6	2074	broad.mit.edu	37	10	50669423	50669424	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:50669423_50669424insC	uc001jhs.3	-	19	4111_4112	c.3957_3958insG	c.(3955-3960)GGGATTfs	p.G1319fs	ERCC6_uc009xod.2_Frame_Shift_Ins_p.G479fs|ERCC6_uc010qgr.1_Frame_Shift_Ins_p.G689fs|ERCC6_uc001jhr.3_Frame_Shift_Ins_p.G687fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	1319_1320					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						GCACCAGAAATCCCCCTGTGGC	0.540								Direct_reversal_of_damage|NER				
PTEN	5728	broad.mit.edu	37	10	89717770	89717770	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:89717770delA	uc001kfb.2	+	8	1826	c.795delA	c.(793-795)CTAfs	p.L265fs		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	265	C2 tensin-type.			KMLKKDK->AAGAADA: Reduces the growth suppression activity and cells show anchorage-independent growth. Reduces binding to phospholipid membranes in vitro. Phosphatase activity towards PtdIns(3,4,5)P3 is not affected.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K267fs*9(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.D268fs*30(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGATGCTAAAAAAGGTTT	0.348		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
FGFBP3	143282	broad.mit.edu	37	10	93668204	93668205	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:93668204_93668205insC	uc001khq.3	-	2	704_705	c.522_523insG	c.(520-525)GGGCGGfs	p.G174fs		NM_152429	NP_689642	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	174_175					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding				0		Colorectal(252;0.162)				TCCCGGGTCCGCCCCCGGTTCC	0.752												
ZNF518A	9849	broad.mit.edu	37	10	97919840	97919840	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:97919840delT	uc001klp.2	+	6	4618	c.3761delT	c.(3760-3762)ATTfs	p.I1254fs	ZNF518A_uc001klo.1_Frame_Shift_Del_p.I724fs|ZNF518A_uc001klq.2_Frame_Shift_Del_p.I1254fs|ZNF518A_uc001klr.2_Frame_Shift_Del_p.I1254fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TCCAAAAAAATTTTTTCAAAA	0.333												
SMPD1	6609	broad.mit.edu	37	11	6412854	6412854	+	Frame_Shift_Del	DEL	C	C	-	rs74053349	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6412854delC	uc001mcw.2	+	2	733	c.559delC	c.(559-561)CCCfs	p.P187fs	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Frame_Shift_Del_p.P187fs|SMPD1_uc009yew.2_Frame_Shift_Del_p.P186fs	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	185					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GCCGAAGCCGCCCCCCAAACC	0.627												
DCHS1	8642	broad.mit.edu	37	11	6645397	6645397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:6645397delG	uc001mem.1	-	21	7920	c.7510delC	c.(7510-7512)CTGfs	p.L2504fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2504	Cadherin 24.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGCCTCCAGGGTGAGCAGA	0.612												
PAX6	5080	broad.mit.edu	37	11	31812317	31812317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:31812317delG	uc001mtd.3	-	11	2014	c.1124delC	c.(1123-1125)CCAfs	p.P375fs	PAX6_uc001mte.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mtg.3_Frame_Shift_Del_p.P389fs|PAX6_uc001mtf.3_Frame_Shift_Del_p.P375fs|PAX6_uc001mth.3_Frame_Shift_Del_p.P375fs|PAX6_uc009yjr.2_Frame_Shift_Del_p.P375fs	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CTGCATATGTGGGGGGGTGTA	0.587									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
RAG1	5896	broad.mit.edu	37	11	36597722	36597723	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:36597722_36597723insG	uc001mwu.3	+	2	2992_2993	c.2868_2869insG	c.(2866-2871)ATTGGGfs	p.I956fs	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	956_957					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGGCTCCATTGGGGCATGGGC	0.436									Familial_Hemophagocytic_Lymphohistiocytosis			
MARK2	2011	broad.mit.edu	37	11	63672263	63672263	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63672263delC	uc001nxw.2	+	16	2261	c.1682delC	c.(1681-1683)GCCfs	p.A561fs	MARK2_uc001nxx.2_Frame_Shift_Del_p.A507fs|MARK2_uc001nxy.2_Frame_Shift_Del_p.A506fs|MARK2_uc001nxv.3_Frame_Shift_Del_p.A506fs|MARK2_uc001nxz.3_Frame_Shift_Del_p.A527fs|MARK2_uc009yoy.2_Frame_Shift_Del_p.A481fs	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	561					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CACAGCACAGCCCCCCAGCGT	0.642												
FERMT3	83706	broad.mit.edu	37	11	63987799	63987802	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:63987799_63987802delGTGA	uc001nyl.2	+	11	1472	c.1323_splice	c.e11+1	p.D441_splice	FERMT3_uc001nym.2_Splice_Site_p.D437_splice	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form						integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						GTGCCAGGATGTGAGTGAgggctg	0.412												
RELT	84957	broad.mit.edu	37	11	73106249	73106249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:73106249delC	uc001otv.2	+	10	1329	c.1164delC	c.(1162-1164)CTCfs	p.L388fs	RELT_uc001otw.2_Frame_Shift_Del_p.L388fs|RELT_uc001otx.2_RNA	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor precursor	388	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			upper_aerodigestive_tract(1)	1						AGCCTGGCCTCCCCCCTGAGC	0.612												
SLC36A4	120103	broad.mit.edu	37	11	92899120	92899120	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:92899120delA	uc001pdn.2	-	8	928	c.831delT	c.(829-831)TTTfs	p.F277fs	SLC36A4_uc001pdm.2_Frame_Shift_Del_p.F142fs	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	277	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCAGTACCAAAAAAGAGTG	0.343												
CWF19L2	143884	broad.mit.edu	37	11	107299981	107299981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:107299981delT	uc010rvp.1	-	8	1007	c.977delA	c.(976-978)AATfs	p.N326fs	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	326							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)		ATTATTGCTATTTTTTGCAGT	0.323												
ATM	472	broad.mit.edu	37	11	108114817	108114817	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:108114817delT	uc001pkb.1	+	6	1019	c.634delT	c.(634-636)TTTfs	p.F212fs	ATM_uc009yxr.1_Frame_Shift_Del_p.F212fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	212					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATTTTTGGACTTTTTTTCCAA	0.338			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
PHLDB1	23187	broad.mit.edu	37	11	118498911	118498911	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:118498911delC	uc001ptr.1	+	7	1725	c.1372delC	c.(1372-1374)CCCfs	p.P458fs	PHLDB1_uc001pts.2_Frame_Shift_Del_p.P458fs|PHLDB1_uc001ptt.2_Frame_Shift_Del_p.P458fs|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Frame_Shift_Del_p.P258fs|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	458											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCGAGAACTACCCCCCTTAAG	0.642												
TECTA	7007	broad.mit.edu	37	11	121036077	121036077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:121036077delC	uc010rzo.1	+	16	5368	c.5368delC	c.(5368-5370)CCCfs	p.P1790fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1790					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)		CATCGAGCCACCCCCCTATGG	0.592												
A2ML1	144568	broad.mit.edu	37	12	8998751	8998751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:8998751delT	uc001quz.3	+	14	1714	c.1616delT	c.(1615-1617)ATTfs	p.I539fs	A2ML1_uc001qva.1_Frame_Shift_Del_p.I119fs|A2ML1_uc010sgm.1_Frame_Shift_Del_p.I39fs	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	383						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3						ATCTATGCCATTTTTCCCAGT	0.453												
BICD1	636	broad.mit.edu	37	12	32480462	32480463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:32480462_32480463insG	uc001rku.2	+	5	1154_1155	c.1073_1074insG	c.(1072-1074)AAGfs	p.K358fs	BICD1_uc001rkv.2_Frame_Shift_Ins_p.K358fs|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	358	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GAACACACCAAGGGGGCACTGA	0.559												
MGAT4C	25834	broad.mit.edu	37	12	86373330	86373330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:86373330delT	uc001tai.3	-	8	2424	c.1174delA	c.(1174-1176)ATTfs	p.I392fs	MGAT4C_uc001tal.3_Frame_Shift_Del_p.I392fs|MGAT4C_uc001taj.3_Frame_Shift_Del_p.I392fs|MGAT4C_uc001tak.3_Frame_Shift_Del_p.I392fs|MGAT4C_uc010sum.1_Frame_Shift_Del_p.I416fs|MGAT4C_uc001tah.3_Frame_Shift_Del_p.I392fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	392	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						TTTACtttaattttttttatt	0.358												
CEP290	80184	broad.mit.edu	37	12	88453675	88453675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:88453675delT	uc001tar.2	-	48	6989	c.6645delA	c.(6643-6645)AAAfs	p.K2215fs	CEP290_uc001taq.2_Frame_Shift_Del_p.K1275fs	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	2215	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7						AAAGTCATACTTTTTTAAGTT	0.333												
HSPB8	26353	broad.mit.edu	37	12	119617377	119617377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:119617377delC	uc001txb.2	+	1	783	c.260delC	c.(259-261)ACCfs	p.T87fs	HSPB8_uc001txc.2_Frame_Shift_Del_p.T87fs	NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	87					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|skin(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGGCAGGACCCCCCCACCC	0.647												
POLE	5426	broad.mit.edu	37	12	133249248	133249248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:133249248delC	uc001uks.1	-	15	1695	c.1651delG	c.(1651-1653)GTTfs	p.V551fs	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Del_p.V524fs	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	551					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGCGGAAAACCCCAGACTCG	0.572								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
NBEA	26960	broad.mit.edu	37	13	36125103	36125104	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36125103_36125104insA	uc001uvb.2	+	43	6946_6947	c.6740_6741insA	c.(6739-6741)GTAfs	p.V2247fs	NBEA_uc010abi.2_Frame_Shift_Ins_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Ins_p.V40fs|NBEA_uc010tef.1_Frame_Shift_Ins_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Ins_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAAGCAACAGTAAAAAAAGTTG	0.381												
NALCN	259232	broad.mit.edu	37	13	101755523	101755524	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:101755523_101755524insA	uc001vox.1	-	26	3245_3246	c.3056_3057insT	c.(3055-3057)TTGfs	p.L1019fs		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1019	Helical; Name=S5 of repeat III; (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)					TCTCACATACCAAAAAAATTTC	0.431												
SIX4	51804	broad.mit.edu	37	14	61190792	61190792	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:61190792delT	uc001xfc.2	-	1	1	c.1delA	c.(1-3)ATGfs	p.M1fs	SIX4_uc010app.1_Intron	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	sine oculis homeobox homolog 4	1						nucleus				breast(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAAGAGGACATTTTTTGTTGT	0.323												
C14orf43	91748	broad.mit.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:74205773delG	uc001xot.2	-	2	1722	c.939delC	c.(937-939)CCCfs	p.P313fs	C14orf43_uc001xou.2_Frame_Shift_Del_p.P313fs|C14orf43_uc010tud.1_Frame_Shift_Del_p.P313fs|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TATCTGGGTTGGGGGGGAAGG	0.662												
ENTPD5	957	broad.mit.edu	37	14	74438596	74438596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:74438596delC	uc010tuo.1	-	14	1354	c.1043delG	c.(1042-1044)GGTfs	p.G348fs	ENTPD5_uc001xpi.2_Frame_Shift_Del_p.G348fs	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	348					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TTTTAAAATACCCCCCTTTTC	0.378												
FOXN3	1112	broad.mit.edu	37	14	89878534	89878534	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:89878534delG	uc001xxo.3	-	2	424	c.287delC	c.(286-288)CCAfs	p.P96fs	FOXN3_uc001xxn.3_Frame_Shift_Del_p.P96fs|FOXN3_uc010atk.2_Frame_Shift_Del_p.P96fs|FOXN3_uc001xxp.2_Frame_Shift_Del_p.P96fs	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	96					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3						GGCAGGGGATGGGGGGGTGTC	0.592												
CDC42BPB	9578	broad.mit.edu	37	14	103447224	103447224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:103447224delA	uc001ymi.1	-	8	1258	c.1026delT	c.(1024-1026)TTTfs	p.F342fs		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	342	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTAGACCTTCAAAAAACGCAT	0.458												
PLA2G4E	123745	broad.mit.edu	37	15	42276068	42276069	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42276068_42276069insAA	uc001zow.1	-	19	2403_2404	c.2403_2404insTT	c.(2401-2406)TTTGACfs	p.F801fs	PLA2G4E_uc010udc.1_Frame_Shift_Ins_p.F273fs|PLA2G4E_uc001zov.1_Frame_Shift_Ins_p.F454fs	NM_001080490	NP_001073959	Q3MJ16	PA24E_HUMAN	phospholipase A2, group 4E	818_819	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity				0		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACCAGCTTGTCAAAGGTGGCCT	0.535												
EIF3J	8669	broad.mit.edu	37	15	44849810	44849811	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:44849810_44849811insT	uc001ztv.2	+	6	660_661	c.533_534insT	c.(532-534)AGTfs	p.S178fs	EIF3J_uc010ueg.1_Intron|EIF3J_uc001ztw.2_Frame_Shift_Ins_p.S129fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3,	178						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity				0		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TATTATGCCAGTTTTTTGGAAG	0.337												
TMC3	342125	broad.mit.edu	37	15	81641861	81641861	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:81641861delA	uc002bgo.1	-	11	1131	c.1131delT	c.(1129-1131)TTTfs	p.F377fs	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Frame_Shift_Del_p.F377fs	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	377	Helical; (Potential).					integral to membrane				ovary(1)|liver(1)	2						CAATGAGGTCAAAGGCTGATG	0.582												
ADAMTS17	170691	broad.mit.edu	37	15	100801843	100801844	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:100801843_100801844insA	uc002bvv.1	-	6	953	c.874_splice	c.e6-1	p.A292_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.A49_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAACTTAGCCTAAAAAAAGTCA	0.510												
DCUN1D3	123879	broad.mit.edu	37	16	20871266	20871267	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:20871266_20871267insC	uc002dhz.2	-	3	997_998	c.856_857insG	c.(856-858)GAAfs	p.E286fs	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain	286					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				ovary(2)	2				GBM - Glioblastoma multiforme(48;0.249)		ACCTCTCCCTTCCCCTTCTCTT	0.574												
MAZ	4150	broad.mit.edu	37	16	29818087	29818087	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:29818087delG	uc002dty.2	+	1	233	c.65delG	c.(64-66)CGGfs	p.R22fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAZ_uc002dtv.1_Intron|MAZ_uc010vdx.1_Intron|MAZ_uc002dtw.2_Frame_Shift_Del_p.R22fs|MAZ_uc002dtx.2_Frame_Shift_Del_p.R22fs|MAZ_uc010bzg.2_Frame_Shift_Del_p.R22fs|MAZ_uc002dtz.1_5'Flank|MAZ_uc002dua.2_5'Flank|MAZ_uc010vdy.1_5'Flank	NM_002383	NP_002374	P56270	MAZ_HUMAN	MYC-associated zinc finger protein isoform 1	22					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1						CTGGACTCCCGGGGGGTGGGC	0.726												
ITGAL	3683	broad.mit.edu	37	16	30518138	30518138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:30518138delC	uc002dyi.3	+	21	2645	c.2469delC	c.(2467-2469)TTCfs	p.F823fs	ITGAL_uc002dyj.3_Frame_Shift_Del_p.F739fs|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	823	Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	ACCTGCACTTCCCCCCGGGAC	0.597												
CTCF	10664	broad.mit.edu	37	16	67645338	67645339	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67645338_67645339insAA	uc002etl.2	+	3	893_894	c.603_604insAA	c.(601-606)GCCAAAfs	p.A201fs	CTCF_uc010cek.2_Intron	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	201_202					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475												
ANKRD11	29123	broad.mit.edu	37	16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:89349914_89349916delCTT	uc002fmx.1	-	9	3495_3497	c.3034_3036delAAG	c.(3034-3036)AAGdel	p.K1012del	ANKRD11_uc002fmy.1_In_Frame_Del_p.K1012del|ANKRD11_uc002fnc.1_In_Frame_Del_p.K1012del|ANKRD11_uc002fnb.1_In_Frame_Del_p.K969del	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1012	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGCCATCCTTCTTCTCCTTC	0.512												
RABEP1	9135	broad.mit.edu	37	17	5281517	5281517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:5281517delA	uc002gbm.3	+	15	2485	c.2261delA	c.(2260-2262)GAAfs	p.E754fs	RABEP1_uc010cld.1_Frame_Shift_Del_p.E711fs|RABEP1_uc010vsw.1_Frame_Shift_Del_p.E711fs|RABEP1_uc002gbl.3_Frame_Shift_Del_p.E754fs|NUP88_uc002gbn.2_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	754	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						ATAAAAGTGGAAAAAGGACAG	0.249												
CHRNB1	1140	broad.mit.edu	37	17	7359206	7359208	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7359206_7359208delCTC	uc002ghb.2	+	10	1352_1354	c.1311_1313delCTC	c.(1309-1314)GTCTCC>GTC	p.S439del	CHRNB1_uc010vty.1_In_Frame_Del_p.S367del	NM_000747	NP_000738	P11230	ACHB_HUMAN	nicotinic acetylcholine receptor beta 1 subunit	439	Cytoplasmic (Potential).				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			ovary(2)	2		Prostate(122;0.157)				GGGAGGTCGTCTCCTCTATCAGC	0.606												
MYO18A	399687	broad.mit.edu	37	17	27493332	27493332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:27493332delG	uc002hdt.1	-	2	785	c.627delC	c.(625-627)CCCfs	p.P209fs	MYO18A_uc010csa.1_Frame_Shift_Del_p.P209fs|MYO18A_uc002hdu.1_Frame_Shift_Del_p.P209fs	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	209					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGGGCACCACGGGGGGCAGGC	0.662												
NF1	4763	broad.mit.edu	37	17	29677285	29677285	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:29677285delA	uc002hgg.2	+	50	7739	c.7406delA	c.(7405-7407)GAAfs	p.E2469fs	NF1_uc002hgh.2_Frame_Shift_Del_p.E2448fs|NF1_uc010cso.2_Frame_Shift_Del_p.E657fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2469					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTCAATGGAAAATGTTCCT	0.353			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
MAPT	4137	broad.mit.edu	37	17	44039781	44039781	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:44039781delG	uc002ijr.3	+	2	398	c.78delG	c.(76-78)CAGfs	p.Q26fs	MAPT_uc010dau.2_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijs.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijx.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijt.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002iju.3_Frame_Shift_Del_p.Q26fs|MAPT_uc002ijv.3_Frame_Shift_Del_p.Q26fs	NM_016835	NP_058519	P10636	TAU_HUMAN	microtubule-associated protein tau isoform 1	26					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			pancreas(1)	1		Melanoma(429;0.216)				GGAAAGATCAGGGGGGCTACA	0.592												
HELZ	9931	broad.mit.edu	37	17	65105424	65105425	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65105424_65105425insA	uc010wqk.1	-	29	4486_4487	c.4299_4300insT	c.(4297-4302)TTTAATfs	p.F1433fs	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Frame_Shift_Ins_p.F1432fs|HELZ_uc010der.2_5'UTR	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACTGCACTATTAAAAAAAGCAT	0.540												
ABCA5	23461	broad.mit.edu	37	17	67256528	67256528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:67256528delT	uc002jif.2	-	26	4808	c.3590delA	c.(3589-3591)AATfs	p.N1197fs	ABCA5_uc002jib.2_Frame_Shift_Del_p.N163fs|ABCA5_uc002jic.2_Frame_Shift_Del_p.N420fs|ABCA5_uc002jid.2_Frame_Shift_Del_p.N114fs|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Frame_Shift_Del_p.N1197fs	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1197					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GGTGTCCACATTTTTTCGTAC	0.294												
CDH2	1000	broad.mit.edu	37	18	25570159	25570160	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:25570159_25570160insT	uc002kwg.2	-	10	1958_1959	c.1499_1500insA	c.(1498-1500)AATfs	p.N500fs	CDH2_uc010xbn.1_Frame_Shift_Ins_p.N469fs	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	500	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						TGATCTTAGGATTGGGGGCAAA	0.455												
FZR1	51343	broad.mit.edu	37	19	3532075	3532075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3532075delG	uc010dtk.2	+	9	1024	c.990delG	c.(988-990)TCGfs	p.S330fs	FZR1_uc002lxt.2_Frame_Shift_Del_p.S330fs|FZR1_uc002lxv.2_Frame_Shift_Del_p.S241fs	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Fzr1 protein isoform 1	330	WD 4.				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			lung(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCGCCTCGGGGGGCAACG	0.682												
OR7E24	26648	broad.mit.edu	37	19	9362157	9362157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:9362157delC	uc002mlb.1	+	1	438	c.438delC	c.(436-438)CACfs	p.H146fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E,	146	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CCATCTGTCACCCCCTGCACT	0.453												
RAVER1	125950	broad.mit.edu	37	19	10433828	10433828	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10433828delC	uc002moa.2	-	5	1202	c.1122delG	c.(1120-1122)GGGfs	p.G374fs		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	357	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACCCTGCTTCCCCCCCGCAC	0.667												
AP1M2	10053	broad.mit.edu	37	19	10685628	10685628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:10685628delG	uc002mpc.2	-	10	1209	c.1125delC	c.(1123-1125)CCCfs	p.P375fs	AP1M2_uc002mpd.2_Frame_Shift_Del_p.P377fs	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	375	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(2)	2			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			TGACCCCGATGGGGGGCCGGC	0.612												
ZNF490	57474	broad.mit.edu	37	19	12691724	12691725	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12691724_12691725insT	uc002mtz.2	-	5	1293_1294	c.1164_1165insA	c.(1162-1167)AAACCCfs	p.K388fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	388_389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CATTCATAGGGTTTTTCTCCAA	0.406												
KLC3	147700	broad.mit.edu	37	19	45848996	45848996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:45848996delA	uc002pbf.1	+	2	312	c.197delA	c.(196-198)GAAfs	p.E66fs	KLC3_uc002pbe.2_Frame_Shift_Del_p.E66fs|KLC3_uc010ejy.1_Frame_Shift_Del_p.E66fs|KLC3_uc002pbg.1_Frame_Shift_Del_p.E80fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	kinesin light chain 3	66						cytoplasm|kinesin complex|microtubule	microtubule motor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGCTGGAGGAAAAGCAGCAG	0.721												
LENG1	79165	broad.mit.edu	37	19	54660653	54660654	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54660653_54660654insG	uc002qdm.2	-	3	435_436	c.422_423insC	c.(421-423)CCGfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	141										ovary(1)	1	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCCC	0.639												
ZNF329	79673	broad.mit.edu	37	19	58640438	58640439	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:58640438_58640439delTC	uc002qrn.2	-	4	669_670	c.432_433delGA	c.(430-435)GAGAAGfs	p.E144fs	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	144_145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTGTAGGGCTTCTCTCTCACTG	0.376												
ZFP36L2	678	broad.mit.edu	37	2	43452622	43452623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:43452622_43452623insC	uc002rsv.3	-	2	611_612	c.320_321insG	c.(319-321)GGCfs	p.G107fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	107	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGTGCCGCCGCCCCCCGACGG	0.693												
CREG2	200407	broad.mit.edu	37	2	102003685	102003685	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:102003685delG	uc002tba.2	-	1	281	c.235delC	c.(235-237)CACfs	p.H79fs		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	79						extracellular region	FMN binding			ovary(1)	1						TCCTCCTTGTGGGCAGAGGCG	0.522												
KBTBD10	10324	broad.mit.edu	37	2	170371384	170371385	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:170371384_170371385insA	uc002ueu.1	+	3	1366_1367	c.1289_1290insA	c.(1288-1290)GTAfs	p.V430fs	KBTBD10_uc010zdh.1_Frame_Shift_Ins_p.V368fs	NM_006063	NP_006054	O60662	KBTBA_HUMAN	kelch repeat and BTB (POZ) domain containing 10	430	Kelch 2.				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle					0						TGGAACGAAGTAAAAAAACTCC	0.351												
NRP2	8828	broad.mit.edu	37	2	206628531	206628532	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:206628531_206628532insG	uc002vaw.2	+	13	2969_2970	c.2178_2179insG	c.(2176-2181)CGCGGGfs	p.R726fs	NRP2_uc002vau.2_Frame_Shift_Ins_p.R726fs|NRP2_uc002vav.2_Frame_Shift_Ins_p.R726fs|NRP2_uc002vax.2_Frame_Shift_Ins_p.R726fs|NRP2_uc002vay.2_Frame_Shift_Ins_p.R726fs	NM_201266	NP_957718	O60462	NRP2_HUMAN	neuropilin 2 isoform 1 precursor	726_727	Extracellular (Potential).|MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4						CGGGCGGCCGCGGGGTGGCGCT	0.688											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF337	26152	broad.mit.edu	37	20	25657323	25657324	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25657323_25657324insT	uc002wva.2	-	4	1122_1123	c.600_601insA	c.(598-603)AAAGCAfs	p.K200fs	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Ins_p.K168fs|ZNF337_uc002wvb.2_Frame_Shift_Ins_p.K200fs|ZNF337_uc002wvc.2_Frame_Shift_Ins_p.K200fs	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	200_201	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGGAATGTGCTTTTTTGTGTA	0.446												
MMP9	4318	broad.mit.edu	37	20	44641953	44641953	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44641953delC	uc002xqz.2	+	9	1409	c.1390delC	c.(1390-1392)CCCfs	p.P464fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	464					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCCCACGGCTCCCCCGACGGT	0.483											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CD40	958	broad.mit.edu	37	20	44755294	44755294	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:44755294delC	uc002xrg.1	+	6	590	c.513delC	c.(511-513)GACfs	p.D171fs	CD40_uc002xrh.1_Intron|CD40_uc002xri.1_Frame_Shift_Del_p.D171fs|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_Intron|CD40_uc002xrl.1_5'Flank	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	171	TNFR-Cys 4.|Extracellular (Potential).				B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			lung(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	AGACCAAAGACCTGGTTGTGC	0.478									Immune_Deficiency_with_Hyper-IgM			
ZGPAT	84619	broad.mit.edu	37	20	62366642	62366642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:62366642delC	uc002ygk.2	+	6	1361	c.1183delC	c.(1183-1185)CCCfs	p.P395fs	ZGPAT_uc002ygi.2_Frame_Shift_Del_p.P375fs|ZGPAT_uc002ygj.2_Frame_Shift_Del_p.P375fs|ZGPAT_uc010gkk.1_5'UTR|ZGPAT_uc010gkl.1_Frame_Shift_Del_p.P375fs|ZGPAT_uc002ygm.2_Frame_Shift_Del_p.P366fs|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	395					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CACCAACAAGCCCCCCAGGTG	0.632												
PCNT	5116	broad.mit.edu	37	21	47831672	47831673	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47831672_47831673insT	uc002zji.3	+	28	5792_5793	c.5685_5686insT	c.(5683-5688)CTGTTGfs	p.L1895fs	PCNT_uc002zjj.2_Frame_Shift_Ins_p.L1777fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1895_1896	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGGCCGTCCTGTTGGCCTTGGC	0.678												
BCR	613	broad.mit.edu	37	22	23523816	23523816	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:23523816delG	uc002zww.2	+	1	1265	c.669delG	c.(667-669)GTGfs	p.V223fs	BCR_uc002zwx.2_Frame_Shift_Del_p.V223fs	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	223	Kinase.|Binding to ABL SH2-domain.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						GCTCGAGCGTGGGGGATGCAT	0.667			T	ABL1| FGFR1|JAK2 	CML|ALL|AML							
CYTSA	23384	broad.mit.edu	37	22	24726351	24726351	+	Frame_Shift_Del	DEL	A	A	-	rs71689792		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24726351delA	uc002zzw.2	+	8	2655	c.2348delA	c.(2347-2349)GAAfs	p.E783fs	CYTSA_uc002zzv.3_Frame_Shift_Del_p.E783fs|CYTSA_uc011ajq.1_Frame_Shift_Del_p.E783fs	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	783	Potential.				cell cycle|cell division						0						GAGGCTCAAGAAAAAAATGAG	0.398												
PLXNB2	23654	broad.mit.edu	37	22	50721829	50721830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50721829_50721830insC	uc003bkv.3	-	16	2721_2722	c.2615_2616insG	c.(2614-2616)GGTfs	p.G872fs	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	872	Extracellular (Potential).|IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTCGACACCCCCCGTGAA	0.663												
CELSR3	1951	broad.mit.edu	37	3	48699377	48699377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:48699377delG	uc003cul.2	-	1	972	c.691delC	c.(691-693)CGGfs	p.R231fs	CELSR3_uc003cuf.1_Frame_Shift_Del_p.R301fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	231	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTTCCGCCGGGGGGCTGTC	0.657												
CAMKV	79012	broad.mit.edu	37	3	49896836	49896836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49896836delC	uc003cxt.1	-	11	1614	c.1421delG	c.(1420-1422)GGCfs	p.G474fs	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.1_5'Flank|CAMKV_uc011bcy.1_Frame_Shift_Del_p.G399fs|CAMKV_uc003cxv.1_Frame_Shift_Del_p.G446fs|CAMKV_uc003cxw.1_Frame_Shift_Del_p.G306fs|CAMKV_uc003cxx.1_Frame_Shift_Del_p.G306fs|CAMKV_uc003cxu.2_Frame_Shift_Del_p.G443fs|CAMKV_uc011bcz.1_Frame_Shift_Del_p.G406fs|CAMKV_uc011bda.1_Frame_Shift_Del_p.G400fs	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	474	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCTGTGGCGCCCTCTGGGGC	0.652												
DNAH1	25981	broad.mit.edu	37	3	52402772	52402774	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:52402772_52402774delCTC	uc011bef.1	+	37	6042_6044	c.5781_5783delCTC	c.(5779-5784)TTCTCC>TTC	p.S1929del		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1929	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGGGATATTCTCCTCGTTCATC	0.616												
FAM116A	201627	broad.mit.edu	37	3	57614576	57614578	+	In_Frame_Del	DEL	CTA	CTA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:57614576_57614578delCTA	uc003dja.2	-	19	1726_1728	c.1655_1657delTAG	c.(1654-1659)GTAGAA>GAA	p.V552del		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	hypothetical protein LOC201627	552										pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TCTACTGTTTCTACTTCTGTGTG	0.340												
PTPRG	5793	broad.mit.edu	37	3	62253484	62253484	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:62253484delA	uc003dlb.2	+	19	3583	c.2864delA	c.(2863-2865)GAAfs	p.E955fs	PTPRG_uc003dlc.2_Frame_Shift_Del_p.E926fs|PTPRG_uc011bfi.1_Frame_Shift_Del_p.E201fs|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	955	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(5)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AACCTTGTGGAAAAAGGAAGA	0.393												
SLC41A3	54946	broad.mit.edu	37	3	125725966	125725966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:125725966delC	uc003eij.2	-	11	1583	c.1357delG	c.(1357-1359)GACfs	p.D453fs	SLC41A3_uc003eii.2_Frame_Shift_Del_p.D427fs|SLC41A3_uc003eil.2_Frame_Shift_Del_p.D453fs|SLC41A3_uc003eik.2_Frame_Shift_Del_p.D417fs|SLC41A3_uc011bkh.1_Frame_Shift_Del_p.D336fs	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3 isoform 1	453						integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(114;0.167)		CCGAGCAGGTCCCCCAGCCCT	0.582												
PPP2R3A	5523	broad.mit.edu	37	3	135720729	135720729	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:135720729delA	uc003eqv.1	+	2	954	c.389delA	c.(388-390)GAAfs	p.E130fs	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	130					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						TTTTCCTTTGAAAAACTCAAA	0.373												
RASA2	5922	broad.mit.edu	37	3	141327450	141327450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:141327450delT	uc003etz.1	+	21	2136	c.2136delT	c.(2134-2136)AGTfs	p.S712fs	RASA2_uc010huq.1_Frame_Shift_Del_p.S716fs|RASA2_uc003eua.1_Frame_Shift_Del_p.S713fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	712	Btk-type.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			ovary(2)|lung(2)|breast(1)|skin(1)	6						ACAGGCTCAGTTTTTATCATC	0.463												
HRASLS	57110	broad.mit.edu	37	3	192980889	192980889	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:192980889delC	uc003fta.2	+	3	675	c.270delC	c.(268-270)TACfs	p.Y90fs		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	90											0	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ATGAAACGTACCCCCCTCTCC	0.418												
KIAA0226	9711	broad.mit.edu	37	3	197427915	197427915	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:197427915delG	uc003fyc.2	-	7	1013	c.830delC	c.(829-831)CCAfs	p.P277fs	KIAA0226_uc003fyd.3_Frame_Shift_Del_p.P217fs|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Frame_Shift_Del_p.P110fs|KIAA0226_uc003fyg.2_Frame_Shift_Del_p.P270fs	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	277	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GACTGAAACTGGGGGGGCTTG	0.552												
MTTP	4547	broad.mit.edu	37	4	100496086	100496086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:100496086delT	uc003hvc.3	+	2	276	c.20delT	c.(19-21)CTTfs	p.L7fs	MTTP_uc011cej.1_Intron|MTTP_uc003hvb.2_Frame_Shift_Del_p.L7fs	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	7					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTTGCTGTGCTTTTTCTCTGC	0.428												
LRIT3	345193	broad.mit.edu	37	4	110791079	110791080	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110791079_110791080insC	uc003hzx.3	+	3	1232_1233	c.1039_1040insC	c.(1039-1041)TCCfs	p.S347fs	LRIT3_uc003hzw.3_Frame_Shift_Ins_p.S209fs	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and	347	Ser-rich.					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ctcttccttctcccccacatct	0.223												
C4orf49	84709	broad.mit.edu	37	4	140201256	140201256	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:140201256delG	uc003ihr.1	-	1	237	c.57delC	c.(55-57)CCCfs	p.P19fs		NM_032623	NP_116012	Q8TDB4	CD049_HUMAN	ovary-specific acidic protein	19						integral to membrane				central_nervous_system(1)|skin(1)	2						GCGCGGGGTTGGGGGGCGCCC	0.721												
NAA15	80155	broad.mit.edu	37	4	140264085	140264086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:140264085_140264086insT	uc003ihu.1	+	5	764_765	c.508_509insT	c.(508-510)ATTfs	p.I170fs		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	170	TPR 3.				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						GGCAGCAAAGATTTTAGAAGAA	0.351												
TRIO	7204	broad.mit.edu	37	5	14488155	14488156	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:14488155_14488156insCC	uc003jff.2	+	48	7424_7425	c.7418_7419insCC	c.(7417-7419)TTCfs	p.F2473fs	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Frame_Shift_Ins_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2473					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AAGGAGCCCTTCCCCCCCAGCA	0.743												
ACTBL2	345651	broad.mit.edu	37	5	56778406	56778407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:56778406_56778407insC	uc003jrm.2	-	1	230_231	c.128_129insG	c.(127-129)GGCfs	p.G43fs		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	43						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CTACCATAACGCCCTGGTGTCG	0.589												
MCTP1	79772	broad.mit.edu	37	5	94620067	94620067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:94620067delC	uc003kkx.2	-	1	213	c.213delG	c.(211-213)GGGfs	p.G71fs		NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	71					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTGCACCACTCCCCCTGGCCG	0.647												
FER	2241	broad.mit.edu	37	5	108290522	108290522	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:108290522delA	uc003kop.1	+	12	1806	c.1422delA	c.(1420-1422)TTAfs	p.L474fs	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Frame_Shift_Del_p.L299fs	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	474	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAGAACTGTTAAAAAAACAAG	0.408												
PSD2	84249	broad.mit.edu	37	5	139193288	139193288	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:139193288delG	uc003leu.1	+	3	971	c.766delG	c.(766-768)GGGfs	p.G256fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	256					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGGCCCAGGGGGGGATGA	0.587												
C5orf41	153222	broad.mit.edu	37	5	172517887	172517887	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:172517887delA	uc003mch.2	+	4	1009	c.705delA	c.(703-705)GTAfs	p.V235fs	C5orf41_uc003mcg.2_Frame_Shift_Del_p.V235fs|C5orf41_uc003mcf.2_Frame_Shift_Del_p.V235fs|C5orf41_uc011dfd.1_Frame_Shift_Del_p.V235fs	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	235							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGACTATGTAAAAAAGGCAA	0.418												
TUBB2B	347733	broad.mit.edu	37	6	3225739	3225739	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:3225739delT	uc003mvg.2	-	4	775	c.584delA	c.(583-585)AACfs	p.N195fs	TUBB2B_uc010jnj.2_Frame_Shift_Del_p.N158fs|TUBB2B_uc010jnk.2_Frame_Shift_Del_p.N123fs|TUBB2B_uc003mvh.2_Frame_Shift_Del_p.N168fs|uc011dhu.1_RNA	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B	195					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			large_intestine(1)	1	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTCATCTGTGTTTTCCACCAG	0.582												
HIVEP1	3096	broad.mit.edu	37	6	12164369	12164370	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:12164369_12164370insA	uc003nac.2	+	9	8011_8012	c.7832_7833insA	c.(7831-7833)GCAfs	p.A2611fs	HIVEP1_uc011diq.1_RNA	NM_002114	NP_002105	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer	2611					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGGGAAAATGCAAAAAAAGTTC	0.540												
BTN3A1	11119	broad.mit.edu	37	6	26413605	26413605	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:26413605delA	uc003nhv.2	+	10	1595	c.1227delA	c.(1225-1227)ATAfs	p.I409fs	BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Frame_Shift_Del_p.I357fs|BTN3A1_uc010jqj.2_3'UTR	NM_007048	NP_008979	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1 isoform a	409	Cytoplasmic (Potential).|B30.2/SPRY.				lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2						AGTGGCATATAGGGGTGTGCA	0.468												
STK38	11329	broad.mit.edu	37	6	36465582	36465583	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36465582_36465583insA	uc003omg.2	-	11	1734_1735	c.1146_1147insT	c.(1144-1149)TTTGAAfs	p.F382fs	STK38_uc003omh.2_Frame_Shift_Ins_p.F382fs|STK38_uc003omi.2_Frame_Shift_Ins_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	382_383	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						TCAACGCCTTCAAAAAAAGAGT	0.366												
BAI3	577	broad.mit.edu	37	6	69349020	69349020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:69349020delT	uc003pev.3	+	3	901	c.453delT	c.(451-453)TCTfs	p.S151fs	BAI3_uc010kak.2_Frame_Shift_Del_p.S151fs	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	151	CUB.|Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				ATCAGAAATCTTTTTTTGAGT	0.348												
FAM135A	57579	broad.mit.edu	37	6	71269576	71269577	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:71269576_71269577insT	uc003pfj.2	+	20	4633_4634	c.4500_4501insT	c.(4498-4503)ATATTTfs	p.I1500fs	FAM135A_uc003pfi.2_Frame_Shift_Ins_p.I1304fs|FAM135A_uc003pfh.2_Frame_Shift_Ins_p.I1287fs|FAM135A_uc003pfl.2_Frame_Shift_Ins_p.I1167fs|FAM135A_uc003pfn.2_Frame_Shift_Ins_p.I706fs|FAM135A_uc010kan.1_Frame_Shift_Ins_p.I242fs|FAM135A_uc003pfp.2_Frame_Shift_Ins_p.I64fs	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	hypothetical protein LOC57579 isoform c	1500_1501										central_nervous_system(1)	1						ATTCGGAAATATTTTTAGAGAA	0.361												
SENP6	26054	broad.mit.edu	37	6	76369099	76369099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:76369099delA	uc003pid.3	+	8	1291	c.672delA	c.(670-672)TCAfs	p.S224fs	SENP6_uc003pie.3_Frame_Shift_Del_p.S217fs|SENP6_uc003pic.2_Frame_Shift_Del_p.S217fs|SENP6_uc003pif.1_Frame_Shift_Del_p.S115fs	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6 isoform 1	224					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)				CTCCTGCTTCAAAAAAATGTT	0.343												
KIAA1009	22832	broad.mit.edu	37	6	84862599	84862600	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:84862599_84862600insT	uc010kbp.2	-	23	3390_3391	c.3293_3294insA	c.(3292-3294)AAGfs	p.K1098fs	KIAA1009_uc003pkj.3_Frame_Shift_Ins_p.K1022fs|KIAA1009_uc003pki.3_Frame_Shift_Ins_p.K484fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	1098	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTATTTCTCTCTTTTTTGCAGC	0.386												
C6orf167	253714	broad.mit.edu	37	6	97620979	97620979	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:97620979delT	uc003ppb.2	-	19	3065	c.2799delA	c.(2797-2799)AAAfs	p.K933fs	C6orf167_uc011eaf.1_Frame_Shift_Del_p.K893fs	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	933					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		CACTGAAAACTTTTTTTCCCA	0.383												
KIAA1919	91749	broad.mit.edu	37	6	111587480	111587480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:111587480delT	uc003puv.3	+	4	1137	c.715delT	c.(715-717)TTTfs	p.F239fs		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	239	Helical; (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TCTGTTCTTCTTTTTTTATGT	0.403												
REV3L	5980	broad.mit.edu	37	6	111726819	111726819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:111726819delA	uc003puy.3	-	4	742	c.419delT	c.(418-420)TTGfs	p.L140fs	REV3L_uc003pux.3_Frame_Shift_Del_p.L62fs|REV3L_uc003puz.3_Frame_Shift_Del_p.L62fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	140					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCCGCTTTGCAAAAGTTCACA	0.303								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
SAMD3	154075	broad.mit.edu	37	6	130467187	130467188	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:130467187_130467188insT	uc003qbv.2	-	11	1488_1489	c.1162_1163insA	c.(1162-1164)ATGfs	p.M388fs	SAMD3_uc003qbx.2_Frame_Shift_Ins_p.M388fs|SAMD3_uc003qbw.2_Frame_Shift_Ins_p.M388fs	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	388										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTAATGTTTCATTTTTTCTTGC	0.302												
ACTB	60	broad.mit.edu	37	7	5568907	5568915	+	In_Frame_Del	DEL	TCCATGTCG	TCCATGTCG	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:5568907_5568915delTCCATGTCG	uc003sos.3	-	2	276_284	c.240_248delCGACATGGA	c.(238-249)GACGACATGGAG>GAG	p.DDM80del	ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_In_Frame_Del_p.DDM80del|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron	NM_001101	NP_001092	P60709	ACTB_HUMAN	beta actin	80_82					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton				0		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CCAGATTTTCTCCATGTCGTCCCAGTTGG	0.612												
DNAH11	8701	broad.mit.edu	37	7	21805081	21805082	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:21805081_21805082delGA	uc003svc.2	+	56	9028_9029	c.8997_8998delGA	c.(8995-9000)CTGAGAfs	p.L2999fs		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2999_3000	AAA 4 (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						GTCGCACGCTGAGAGTTAGAGC	0.525									Kartagener_syndrome			
INHBA	3624	broad.mit.edu	37	7	41729727	41729727	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:41729727delC	uc003thq.2	-	2	1037	c.802delG	c.(802-804)GAAfs	p.E268fs	INHBA_uc003thr.2_Frame_Shift_Del_p.E268fs	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	268					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						tttttcccttccccctcctct	0.353										TSP Lung(11;0.080)		
GPR85	54329	broad.mit.edu	37	7	112723847	112723847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:112723847delA	uc010ljv.2	-	2	1447	c.930delT	c.(928-930)TTTfs	p.F310fs	GPR85_uc003vgp.1_Frame_Shift_Del_p.F310fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.F310fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.F310fs	NM_001146266	NP_001139738	P60893	GPR85_HUMAN	G protein-coupled receptor 85	310	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)	2						GCCCTCTTGCAAAAACTCTCC	0.433												
TNPO3	23534	broad.mit.edu	37	7	128658127	128658127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:128658127delT	uc003vol.1	-	2	579	c.205delA	c.(205-207)ATGfs	p.M69fs	TNPO3_uc003vom.1_Frame_Shift_Del_p.M3fs|TNPO3_uc010lly.1_Frame_Shift_Del_p.M69fs|TNPO3_uc010llz.1_Frame_Shift_Del_p.M69fs	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	transportin 3	69					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			ovary(2)|skin(2)|lung(1)	5						TGAATCTTCATTTTCATGGTC	0.453												
EPHA1	2041	broad.mit.edu	37	7	143096420	143096420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:143096420delC	uc003wcz.2	-	5	1009	c.922delG	c.(922-924)GCCfs	p.A308fs		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	308	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGATGGTGGCCCCCTCAGAC	0.652												
TPK1	27010	broad.mit.edu	37	7	144463016	144463018	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:144463016_144463018delAAG	uc003weq.2	-	3	173_175	c.70_72delCTT	c.(70-72)CTTdel	p.L24del	TPK1_uc003wer.2_In_Frame_Del_p.L24del|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	24					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	AAGGCTGATTAAGAATTACAAGG	0.315												
ZNF786	136051	broad.mit.edu	37	7	148767912	148767912	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:148767912delC	uc003wfh.2	-	4	2089	c.1952delG	c.(1951-1953)TGTfs	p.C651fs	ZNF786_uc011kuk.1_Frame_Shift_Del_p.C614fs|ZNF786_uc003wfi.2_Frame_Shift_Del_p.C565fs	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	651	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCCGCACTCACAGGAGAAAGG	0.572												
ZNF746	155061	broad.mit.edu	37	7	149172551	149172551	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:149172551delT	uc003wfw.2	-	7	1130	c.859delA	c.(859-861)ACAfs	p.T287fs	ZNF746_uc010lpi.2_Frame_Shift_Del_p.T288fs	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	287					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGGACTTCTGTTTTTATTACA	0.512												
CHPF2	54480	broad.mit.edu	37	7	150935382	150935383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150935382_150935383insC	uc003wjr.1	+	4	3447_3448	c.1934_1935insC	c.(1933-1935)GACfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.D637fs|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	645	Gly/Pro-rich.|Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1						GCTGGCCCTGACCCCCCCTCCC	0.649												
DEFB135	613209	broad.mit.edu	37	8	11842012	11842012	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:11842012delA	uc003wuw.1	+	2	147	c.147delA	c.(145-147)CTAfs	p.L49fs		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	beta-defensin 135 precursor	49					defense response to bacterium	extracellular region					0						CAAAATGTCTAAAAAACGAAC	0.383												
CSGALNACT1	55790	broad.mit.edu	37	8	19363162	19363163	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:19363162_19363163insA	uc011kyn.1	-	4	1247_1248	c.183_184insT	c.(181-186)CTTCAGfs	p.L61fs	CSGALNACT1_uc011kyo.1_Frame_Shift_Ins_p.L61fs|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Frame_Shift_Ins_p.L60fs|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	61_62	Lumenal (Potential).|Potential.				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		TCCCACTCCTGAAGGACGGCCT	0.629												
NOL6	65083	broad.mit.edu	37	9	33464082	33464082	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:33464082delG	uc003zsz.2	-	22	2958	c.2857delC	c.(2857-2859)CAAfs	p.Q953fs	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Frame_Shift_Del_p.Q7fs|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Frame_Shift_Del_p.Q950fs|NOL6_uc011lob.1_Frame_Shift_Del_p.Q901fs|NOL6_uc003ztb.1_Frame_Shift_Del_p.Q953fs	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	953					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTGCGGTCTTGGGGGGTAACA	0.567												
DCAF12	25853	broad.mit.edu	37	9	34125105	34125106	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:34125105_34125106delCT	uc003ztt.2	-	2	590_591	c.248_249delAG	c.(247-249)GAGfs	p.E83fs		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	83						centrosome|CUL4 RING ubiquitin ligase complex					0						CAAGGTGAAACTCTCTCTCCTT	0.490												
PRKACG	5568	broad.mit.edu	37	9	71628079	71628081	+	In_Frame_Del	DEL	CTT	CTT	-	rs41296338	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:71628079_71628081delCTT	uc004agy.2	-	1	959_961	c.928_930delAAG	c.(928-930)AAGdel	p.K310del		NM_002732	NP_002723	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic,	310	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			ovary(1)|pancreas(1)|skin(1)	3						GAGCTTCCACCTTCTTCTCATAG	0.547												
SMC5	23137	broad.mit.edu	37	9	72962552	72962554	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:72962552_72962554delAGA	uc004ahr.2	+	21	2805_2807	c.2688_2690delAGA	c.(2686-2691)AGAGAA>AGA	p.E899del	SMC5_uc011lry.1_In_Frame_Del_p.E44del	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	SMC5 protein	899	Potential.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			ovary(2)|central_nervous_system(1)	3						ATACAAAAAGAGAAGAAGAAATA	0.286												
C9orf84	158401	broad.mit.edu	37	9	114484808	114484808	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:114484808delT	uc004bfr.2	-	13	1955	c.1820delA	c.(1819-1821)AACfs	p.N607fs	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Frame_Shift_Del_p.N568fs|C9orf84_uc010mug.2_Frame_Shift_Del_p.N553fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	607										ovary(2)	2						GGATACAAGGTTTTTTAAGAT	0.373												
FAM78A	286336	broad.mit.edu	37	9	134151346	134151347	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:134151346_134151347insG	uc004cak.2	-	1	560_561	c.220_221insC	c.(220-222)CAGfs	p.Q74fs		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	hypothetical protein LOC286336	74										ovary(1)	1	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CATGACCACCTGGGCCGAGGCC	0.624												
RGAG4	340526	broad.mit.edu	37	X	71349748	71349748	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:71349748delG	uc010nlh.1	-	1	2004	c.1643delC	c.(1642-1644)CCTfs	p.P548fs	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	548										ovary(2)|skin(1)	3	Renal(35;0.156)					GAAAAGCACAGGGGGGCGTCT	0.607												
CYLC1	1538	broad.mit.edu	37	X	83128981	83128981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:83128981delA	uc004eei.1	+	4	1286	c.1265delA	c.(1264-1266)GAAfs	p.E422fs	CYLC1_uc004eeh.1_Frame_Shift_Del_p.E421fs	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	422	5.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CAGAAAGATGAAAAAAAGGAT	0.338												
DIAPH2	1730	broad.mit.edu	37	X	95993621	95993621	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:95993621delA	uc004efu.3	+	3	598	c.202delA	c.(202-204)AAAfs	p.K68fs	DIAPH2_uc004eft.3_Frame_Shift_Del_p.K68fs|DIAPH2_uc004efs.2_Frame_Shift_Del_p.K68fs	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	68					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4						ATCTACTGTCAAAAAAGAAAA	0.333												
SLC25A43	203427	broad.mit.edu	37	X	118587011	118587011	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:118587011delA	uc004erd.2	+	5	1353	c.1009delA	c.(1009-1011)AAAfs	p.K337fs	SLC25A43_uc011mtt.1_3'UTR	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	mitochondrial solute carrier protein	337					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			skin(1)	1						ACCGAAGCCTAAAAAACCAAC	0.418												
SMARCA1	6594	broad.mit.edu	37	X	128621084	128621084	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:128621084delT	uc004eun.3	-	17	2241	c.2128delA	c.(2128-2130)ATGfs	p.M710fs	SMARCA1_uc004eup.3_Frame_Shift_Del_p.M698fs|SMARCA1_uc011muk.1_Frame_Shift_Del_p.M710fs|SMARCA1_uc011mul.1_Frame_Shift_Del_p.M698fs	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	710					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						GACTCTCCCATTTTTTGCAGG	0.323												
AGRN	375790	broad.mit.edu	37	1	979279	979279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:979278_979278AC>A	uc001ack.2	+	9	1924	c.1874_1874AC>A	c.(1873-1875)cacfs	p.H625fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	625	Kazal-like 7.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CGGTGTGAGCACCCCCCGCCC	0.672												
C1QA	712	broad.mit.edu	37	1	22965826	22965826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:22965825_22965825CA>C	uc001bfy.3	+	2	748	c.663_663CA>C	c.(661-663)cccfs	p.P221fs		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	221	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAAAAGACCCCAAAAAGGGTC	0.597												
MACF1	23499	broad.mit.edu	37	1	39797892	39797893	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:39797891_39797892T>TA	uc021olw.1	+	0	951_952	c.951_952T>TA	c.(949-954)cataaafs	p.H317fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1882					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACTAGCACATAAAATCCTTAG	0.446												
PDE4B	5142	broad.mit.edu	37	1	66831384	66831385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:66831383_66831384A>AT	uc001dcn.3	+	12	1509_1510	c.1318_1319A>AT	c.(1318-1320)attfs	p.I440fs	PDE4B_uc009war.3_Frame_Shift_Ins_p.I348fs|PDE4B_uc001dco.3_Frame_Shift_Ins_p.I440fs|PDE4B_uc001dcp.3_Frame_Shift_Ins_p.I425fs|PDE4B_uc001dcq.3_Frame_Shift_Ins_p.I268fs|PDE4B_uc009was.3_Frame_Shift_Ins_p.I207fs	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	440					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCTGGCTGCCATTTTTGCAGCT	0.431												
GNG12	55970	broad.mit.edu	37	1	68171151	68171151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:68171150_68171150GT>G	uc001dea.2	-	3	408	c.203_203AC>C	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATC	0.433												
RPL5	6125	broad.mit.edu	37	1	93306110	93306112	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:93306109_93306111TGGA>T	uc001doz.3	+	6	785_787	c.707_709TGGA>T	c.(706-711)atggag>aTag	p.236_237ME>I	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_In_Frame_Del_p.186_187ME>I|RPL5_uc001dpd.3_In_Frame_Del_p.37_38ME>I|RPL5_uc009wdi.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	236					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTGTTTCAGATGGAGGAGATGTA	0.369												
WDR47	22911	broad.mit.edu	37	1	109556515	109556516	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:109556514_109556515T>TA	uc001dwl.3	-	3	651_652	c.275_276A>TA	c.(274-276)ttafs	p.L92fs	WDR47_uc001dwi.3_Frame_Shift_Ins_p.L92fs|WDR47_uc001dwj.3_Frame_Shift_Ins_p.L92fs|WDR47_uc001dwk.2_Frame_Shift_Ins_p.L64fs|WDR47_uc010ovf.2_Frame_Shift_Ins_p.L19fs	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	92	CTLH.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATAAAGCTTCTAAAAACTTCTG	0.361												
AMIGO1	57463	broad.mit.edu	37	1	110050474	110050477	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:110050473_110050476CACAG>C	uc021org.1	-	0	1059_1062	c.1059_1062CTGTG>G	c.(1057-1062)tctgtgfs	p.S353fs	AMIGO1_uc001dxx.4_Frame_Shift_Del_p.S353fs	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	353	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTTTCAATTCCACAGACAGTGTCT	0.510												
SV2A	9900	broad.mit.edu	37	1	149884981	149884981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:149884980_149884980TC>T	uc001etg.3	-	1	904	c.413_413GA>A	c.(412-414)gagfs	p.E138fs	SV2A_uc001eth.2_Frame_Shift_Del_p.E138fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	138					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.G137W(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCGTTGTGCCTCCCCCCGGCC	0.637												
LINGO4	339398	broad.mit.edu	37	1	151774033	151774033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:151774032_151774032AG>A	uc001ezf.1	-	1	1339	c.1149_1149CT>T	c.(1147-1149)cctfs	p.P383fs	LINGO4_uc021oyu.1_Frame_Shift_Del_p.P383fs	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	383	LRRCT.					integral to membrane		p.P383T(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACAGGCAGGGGGGGACA	0.627												
TRIM46	80128	broad.mit.edu	37	1	155152179	155152179	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155152178_155152178GC>G	uc001fhs.1	+	7	1439	c.1356_1356GC>G	c.(1354-1356)ctgfs	p.L452fs	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Frame_Shift_Del_p.L452fs|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Frame_Shift_Del_p.L326fs|TRIM46_uc001fhu.1_Frame_Shift_Del_p.L429fs|TRIM46_uc009wpg.1_Frame_Shift_Del_p.L439fs|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	452	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGCTGCCCCCCCATT	0.647												
ASH1L	55870	broad.mit.edu	37	1	155449753	155449754	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:155449752_155449753A>AT	uc009wqq.3	-	2	3388_3389	c.2908_2909T>AT	c.(2908-2910)attfs	p.I970fs	ASH1L_uc001fkt.3_Frame_Shift_Ins_p.I970fs|ASH1L_uc009wqr.1_Frame_Shift_Ins_p.I970fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	970					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTCTTGGTAATTTTTTTATCT	0.351												
COPA	1314	broad.mit.edu	37	1	160261218	160261219	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:160261217_160261218T>TGA	uc001fvv.4	-	30	3748_3749	c.3354_3355A>TCA	c.(3352-3357)ctcaatfs	p.L1118fs	COPA_uc009wti.3_Frame_Shift_Ins_p.L1109fs	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1109					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	p.N1119D(1)|p.N1110D(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGAACAGATTGAGGGCTGTAC	0.545											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IPO9	55705	broad.mit.edu	37	1	201817523	201817524	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:201817522_201817523C>CA	uc001gwz.3	+	3	364_365	c.314_315C>CA	c.(313-315)gcafs	p.A105fs		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	105	Importin N-terminal.				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.R104M(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCCTTACAGGCAAAAATTGTTA	0.460												
PLEKHA6	22874	broad.mit.edu	37	1	204210880	204210881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204210879_204210880T>TG	uc001hau.3	-	15	2552_2553	c.2235_2236A>CA	c.(2233-2238)cccagafs	p.P745fs	PLEKHA6_uc009xau.1_Non-coding_Transcript	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	745										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTGATGTCTCTGGGGGTGTCCA	0.520												
PLEKHA6	22874	broad.mit.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:204228410_204228410AC>A	uc001hau.3	-	7	1300	c.983_983GT>T	c.(982-984)gtafs	p.V328fs	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	328	Pro-rich.							p.V328fs*172(3)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCGGGGGTACCCCCCGGCG	0.627												
CR2	1380	broad.mit.edu	37	1	207642044	207642045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:207642043_207642044T>TC	uc001hfw.3	+	2	736_737	c.617_618T>TC	c.(616-618)gtcfs	p.V206fs	CR2_uc001hfv.3_Frame_Shift_Ins_p.V206fs|CR2_uc009xch.3_Frame_Shift_Ins_p.V206fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396												
ARID4B	51742	broad.mit.edu	37	1	235357477	235357478	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr1:235357476_235357477G>GT	uc021pks.1	-	18	2353_2354	c.1976_1977C>AC	c.(1975-1977)aacfs	p.N659fs	ARID4B_uc001hwq.3_Frame_Shift_Ins_p.N659fs|ARID4B_uc001hwr.3_Frame_Shift_Ins_p.N573fs|ARID4B_uc001hws.4_Frame_Shift_Ins_p.N573fs|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Frame_Shift_Ins_p.N340fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GAAGTTTACAGTTTTTTGGAGA	0.342												
RAD51AP2	729475	broad.mit.edu	37	2	17698737	17698737	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:17698736_17698736GT>G	uc002rcl.1	-	0	971	c.947_947AC>C	c.(946-948)actfs	p.T316fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATC	0.328												
ZFP36L2	678	broad.mit.edu	37	2	43452623	43452624	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:43452622_43452623G>GC	uc002rsv.4	-	1	611_612	c.320_321C>GC	c.(319-321)ggcfs	p.G107fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	107	Poly-Gly.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G107G(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGTGCCGCCGCCCCCCGACGG	0.693												
MTIF2	4528	broad.mit.edu	37	2	55491004	55491004	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:55491003_55491003TG>T	uc002ryn.3	-	5	731	c.-6_splice	c.e5-1		MTIF2_uc010yox.2_Splice_Site|MTIF2_uc002ryo.3_Splice_Site|MTIF2_uc002ryp.1_Intron	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						ATGTTTCTCCTGGGGAAAAAA	0.343												
WBP1	23559	broad.mit.edu	37	2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584												
ANKRD23	200539	broad.mit.edu	37	2	97507821	97507822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:97507820_97507821T>TG	uc002sxa.3	-	2	305_306	c.276_277A>CA	c.(274-279)cccaggfs	p.P92fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Ins_p.P92fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	92						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.530												
EIF5B	9669	broad.mit.edu	37	2	99977674	99977675	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:99977673_99977674C>CA	uc002tab.3	+	3	493_494	c.309_310C>CA	c.(307-312)ggcaaafs	p.G103fs		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	103					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GACAGAAGGGCAAAAAACAGAG	0.312												
MBD5	55777	broad.mit.edu	37	2	149240905	149240905	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:149240904_149240904AC>A	uc002twm.4	+	9	3741	c.2744_2744AC>A	c.(2743-2745)aacfs	p.N915fs	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	915						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACCCCTTGAACCCCAGCCTC	0.468												
RIF1	55183	broad.mit.edu	37	2	152319553	152319553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:152319552_152319552GA>G	uc002txm.3	+	29	3679	c.3518_3518GA>G	c.(3517-3519)agafs	p.R1173fs	RIF1_uc002txn.3_Frame_Shift_Del_p.R1173fs|RIF1_uc002txl.3_Frame_Shift_Del_p.R1173fs|RIF1_uc002txo.3_Frame_Shift_Del_p.R1173fs|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1173					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATGATGAAAGAAAAAAAGCT	0.353												
GALNT5	11227	broad.mit.edu	37	2	158115793	158115793	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:158115792_158115792GC>G	uc002tzg.3	+	0	1453	c.1198_1198GC>G	c.(1198-1200)gccfs	p.A400fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	400					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AACTGCCAAAGCCCCCTCTAC	0.453												
KBTBD10	10324	broad.mit.edu	37	2	170371385	170371386	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:170371384_170371385T>TA	uc002ueu.1	+	2	1366_1367	c.1289_1290T>TA	c.(1288-1290)gtafs	p.V430fs	KBTBD10_uc010zdh.1_Frame_Shift_Ins_p.V368fs	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	430					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TGGAACGAAGTAAAAAAACTCC	0.351												
NRP2	8828	broad.mit.edu	37	2	206628532	206628533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:206628531_206628532C>CG	uc002vaw.3	+	12	2969_2970	c.2178_2179C>CG	c.(2176-2181)cgcgggfs	p.R726fs	NRP2_uc002vau.3_Frame_Shift_Ins_p.R726fs|NRP2_uc002vav.3_Frame_Shift_Ins_p.R726fs|NRP2_uc002vax.3_Frame_Shift_Ins_p.R726fs|NRP2_uc002vay.3_Frame_Shift_Ins_p.R726fs	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	726	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGGGCGGCCGCGGGGTGGCGCT	0.688											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IRS1	3667	broad.mit.edu	37	2	227661672	227661673	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:227661671_227661672C>CA	uc021vxn.1	-	0	1783_1784	c.1783_1784G>TG	c.(1783-1785)cggfs	p.R595fs	IRS1_uc002voh.4_Frame_Shift_Ins_p.R595fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	595					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCCCCCCCCGACGCTCCAAG	0.688											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AGAP1	116987	broad.mit.edu	37	2	236649677	236649678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:236649676_236649677G>GC	uc002vvs.3	+	3	978_979	c.380_381G>GC	c.(379-381)ggcfs	p.G127fs	AGAP1_uc002vvt.3_Frame_Shift_Ins_p.G127fs|AGAP1_uc021vyp.1_Frame_Shift_Ins_p.G127fs	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	127	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.G127A(2)|p.G127G(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GATGAAGGGGGCCCCCCGGAGG	0.490												
HDLBP	3069	broad.mit.edu	37	2	242179467	242179467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr2:242179466_242179466GC>G	uc002waz.3	-	17	2414	c.2241_2241GC>C	c.(2239-2241)ggcfs	p.G747fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.G747fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.G714fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GAATTTTGCCGCCCCCCTTGC	0.547												
TTLL3	26140	broad.mit.edu	37	3	9859428	9859429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:9859427_9859428C>CA	uc003btg.3	+	4	890_891	c.414_415C>CA	c.(412-417)gacaaafs	p.D138fs	TTLL3_uc003btd.4_Frame_Shift_Ins_p.D232fs|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_5'UTR|TTLL3_uc010hco.1_Frame_Shift_Ins_p.D74fs|TTLL3_uc003bth.4_5'UTR|TTLL3_uc011atj.2_Frame_Shift_Ins_p.D74fs|TTLL3_uc003btj.4_5'UTR|TTLL3_uc003bti.4_5'UTR	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	138					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CTGAGGATGACAAAAAAGCCTT	0.540												
NUP210	23225	broad.mit.edu	37	3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:13438889_13438889AG>A	uc003bxv.1	-	2	487	c.404_404CT>T	c.(403-405)ctgfs	p.L135fs		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	135					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.P134L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTCAGCTCCAGGGGGGAGTC	0.607												
KCNH8	131096	broad.mit.edu	37	3	19554728	19554728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:19554727_19554727AC>A	uc003cbk.1	+	12	2540	c.2345_2345AC>A	c.(2344-2346)gacfs	p.D782fs	KCNH8_uc010hex.1_Frame_Shift_Del_p.D243fs	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAAC	0.473												
BSN	8927	broad.mit.edu	37	3	49698680	49698680	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:49698679_49698679TC>T	uc003cxe.4	+	5	9515	c.9401_9401TC>T	c.(9400-9402)gtcfs	p.V3134fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3134					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTTTTCCAGTCCCCGCTGAT	0.622												
SEMA3B	7869	broad.mit.edu	37	3	50311902	50311902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:50311901_50311901TG>T	uc003cyu.3	+	12	1484	c.1242_1242TG>T	c.(1240-1242)actfs	p.T414fs	SEMA3B_uc003cyt.3_Frame_Shift_Del_p.T413fs|SEMA3B_uc003cyv.3_Frame_Shift_Del_p.T302fs|SEMA3B_uc003cyw.3_Frame_Shift_Del_p.T138fs|SEMA3B_uc010hli.3_Frame_Shift_Del_p.T307fs|SEMA3B_uc003cyx.3_Frame_Shift_Del_p.T301fs|SEMA3B_uc003cyy.3_Frame_Shift_Del_p.T72fs|SEMA3B_uc011bdo.2_Frame_Shift_Del_p.T72fs	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	415	Sema.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCCTGCCCACTGGGGGGCGCC	0.567											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL17RB	55540	broad.mit.edu	37	3	53898814	53898815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:53898813_53898814G>GC	uc003dha.3	+	10	1026_1027	c.987_988G>GC	c.(985-990)ctgcccfs	p.L329fs		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406												
PLXNA1	5361	broad.mit.edu	37	3	126735391	126735391	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:126735390_126735390AC>A	uc003ejg.3	+	14	3045	c.3045_3045AC>A	c.(3043-3045)acafs	p.T1015fs		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1015	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GGTGCCTGACACCCCCCGGGC	0.622												
GATA2	2624	broad.mit.edu	37	3	128199894	128199894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:128199893_128199893TG>T	uc003ekm.3	-	6	1847	c.1412_1412CA>A	c.(1411-1413)cacfs	p.H471fs	GATA2_uc003ekn.3_Frame_Shift_Del_p.H457fs|GATA2_uc003eko.2_Frame_Shift_Del_p.H471fs	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	471					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GCTGGACGGGTGGGGGTGGCC	0.672			Mis		AML(CML blast transformation)							
WDR49	151790	broad.mit.edu	37	3	167223102	167223102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:167223101_167223101AT>A	uc003fev.1	-	12	2126	c.1822_1822AT>T	c.(1822-1824)tcafs	p.S608fs	WDR49_uc003feu.1_Frame_Shift_Del_p.S433fs|WDR49_uc011bpd.1_Frame_Shift_Del_p.S573fs|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	608										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTACTGAATGATTTTTTTATA	0.274												
DNAJB11	51726	broad.mit.edu	37	3	186293717	186293717	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr3:186293716_186293716AT>A	uc003fqi.3	+	2	1048	c.313_313AT>A	c.(313-315)attfs	p.I105fs		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	105					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CCATGGAGACATTTTTTCACA	0.398												
LRIT3	345193	broad.mit.edu	37	4	110791080	110791081	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:110791079_110791080T>TC	uc003hzx.4	+	2	1232_1233	c.1039_1040T>TC	c.(1039-1041)tccfs	p.S347fs	LRIT3_uc003hzw.4_Frame_Shift_Ins_p.S209fs	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	347	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ctcttccttctcccccacatct	0.460												
BBS7	55212	broad.mit.edu	37	4	122754483	122754483	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:122754482_122754482CA>C	uc003ied.3	-	14	1764	c.1580_1580TG>G	c.(1579-1581)tgtfs	p.C527fs	BBS7_uc003iee.2_Frame_Shift_Del_p.C527fs	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	527					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCAGGCAGACAAAAAACCAC	0.413									Bardet-Biedl syndrome			
NAA15	80155	broad.mit.edu	37	4	140264086	140264087	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:140264085_140264086A>AT	uc003ihu.1	+	4	764_765	c.508_509A>AT	c.(508-510)attfs	p.I170fs		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	170					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GGCAGCAAAGATTTTAGAAGAA	0.351												
TBC1D9	23158	broad.mit.edu	37	4	141600843	141600843	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:141600842_141600842CT>C	uc010ioj.3	-	3	788	c.516_516AG>G	c.(514-516)aagfs	p.K172fs		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	172	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACGGGGGACCTTCCCCTTCC	0.423												
ZNF827	152485	broad.mit.edu	37	4	146686853	146686854	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:146686852_146686853A>AG	uc003ikn.3	-	11	2946_2947	c.2898_2899T>CT	c.(2896-2901)ccctctfs	p.P966fs	ZNF827_uc003ikm.3_Frame_Shift_Ins_p.P966fs|ZNF827_uc010iox.3_Frame_Shift_Ins_p.P616fs|ZNF827_uc003ikl.3_Frame_Shift_Ins_p.P51fs	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	966	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GAGGATGAAGAGGGGCTATTTG	0.455												
POU4F2	5458	broad.mit.edu	37	4	147560292	147560294	+	Translation_Start_Site	DEL	GAT	GAT	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr4:147560291_147560293AGAT>A	uc003ikv.3	+	0						NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.						MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCGGGCGGGAAGATGATGATGAT	0.685												
TRIO	7204	broad.mit.edu	37	5	14488156	14488157	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:14488155_14488156T>TCC	uc003jff.3	+	47	7424_7425	c.7418_7419T>TCC	c.(7417-7419)ttcfs	p.F2473fs	TRIO_uc003jfg.3_Intron|TRIO_uc003jfh.1_Frame_Shift_Ins_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2473					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGGAGCCCTTCCCCCCCAGCA	0.743												
CDH6	1004	broad.mit.edu	37	5	31322962	31322962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:31322961_31322961GA>G	uc003jhe.2	+	11	2279	c.1919_1919GA>G	c.(1918-1920)cgafs	p.R640fs		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	640					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R640Q(2)|p.R640*(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGCGGCAGCGAAAAAAAGAG	0.453												
C6	729	broad.mit.edu	37	5	41181560	41181560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:41181559_41181559TC>T	uc003jmk.2	-	6	1039	c.829_829GA>A	c.(829-831)agcfs	p.S277fs	C6_uc003jml.1_Frame_Shift_Del_p.S277fs	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGA	0.378												
FBXO4	26272	broad.mit.edu	37	5	41929871	41929871	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:41929870_41929870CT>C	uc003jmq.3	+	2	553	c.497_497CT>C	c.(496-498)tctfs	p.S166fs	FBXO4_uc003jmp.3_Frame_Shift_Del_p.S166fs	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	166					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GCTGTCACTTCTTTTTTACAC	0.388												
ACTBL2	345651	broad.mit.edu	37	5	56778407	56778408	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:56778406_56778407G>GC	uc003jrm.3	-	0	230_231	c.128_129C>GC	c.(127-129)ggcfs	p.G43fs		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	43						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CTACCATAACGCCCTGGTGTCG	0.589												
GCNT4	51301	broad.mit.edu	37	5	74324983	74324984	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:74324982_74324983T>TG	uc003kdn.3	-	0	1742_1743	c.880_881A>CA	c.(880-882)catfs	p.H294fs		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366												
EDIL3	10085	broad.mit.edu	37	5	83360607	83360608	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:83360606_83360607T>TG	uc003kio.1	-	7	1283_1284	c.864_865A>CA	c.(862-867)cccatafs	p.P288fs	EDIL3_uc003kip.1_Frame_Shift_Ins_p.P278fs|EDIL3_uc011ctt.1_Frame_Shift_Ins_p.P65fs	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	288	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAGCTTTTATGGGGGGTGTGA	0.391												
CETN3	1070	broad.mit.edu	37	5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:89701580_89701580CT>C	uc003kjo.3	-	2	315	c.190_190AG>G	c.(190-192)gctfs	p.A64fs		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	64	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		AGTACATCAGCTTTTTTTACA	0.313												
CAST	831	broad.mit.edu	37	5	96065370	96065370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:96065369_96065369TA>T	uc011cuo.1	+	6	462	c.378_378TA>T	c.(376-378)aatfs	p.N126fs	CAST_uc003klt.3_Frame_Shift_Del_p.N80fs|CAST_uc021ybr.1_Frame_Shift_Del_p.N141fs|CAST_uc003klx.3_Frame_Shift_Del_p.N122fs|CAST_uc003klz.1_Frame_Shift_Del_p.N80fs|CAST_uc011cup.2_Frame_Shift_Del_p.N58fs|CAST_uc011cuq.2_Intron|CAST_uc021ybs.1_Frame_Shift_Del_p.N80fs|CAST_uc021ybt.1_Frame_Shift_Del_p.N58fs|CAST_uc011cut.2_Frame_Shift_Del_p.N58fs|CAST_uc011cur.2_Frame_Shift_Del_p.N66fs|CAST_uc011cus.2_Frame_Shift_Del_p.N80fs|CAST_uc003kma.2_Frame_Shift_Del_p.N39fs|CAST_uc003kmd.3_Frame_Shift_Del_p.N58fs	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	80							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ATGCTCACAATAAAAAAGCAG	0.408												
AFF4	27125	broad.mit.edu	37	5	132232258	132232258	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:132232257_132232257GA>G	uc003kyd.3	-	10	2473	c.2065_2065TC>C	c.(2065-2067)cggfs	p.R689fs	AFF4_uc011cxk.2_Frame_Shift_Del_p.R367fs|AFF4_uc003kye.1_Frame_Shift_Del_p.R689fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	689					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCGTTGCCGAAAAAAGCTA	0.468												
EGR1	1958	broad.mit.edu	37	5	137802677	137802682	+	In_Frame_Del	DEL	CCTCCG	CCTCCG	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr5:137802676_137802681TCCTCCG>T	uc003ldb.1	+	1	808_813	c.538_543TCCTCCG>T	c.(538-543)tcctcc>T	p.SS180del		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	180					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCAGCGGCCTCCTCCGCCTCCGCCT	0.650												
MYLK4	340156	broad.mit.edu	37	6	2749454	2749454	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:2749453_2749453GA>G	uc003mty.4	-	1	373	c.76_76TC>C	c.(76-78)cagfs	p.Q26fs		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	26							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCCCTGCACTGAAAAAAGGCC	0.398												
HIVEP1	3096	broad.mit.edu	37	6	12164370	12164371	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:12164369_12164370C>CA	uc003nac.3	+	8	8011_8012	c.7832_7833C>CA	c.(7831-7833)gcafs	p.A2611fs	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2611					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGGGAAAATGCAAAAAAAGTTC	0.540												
SIRT5	23408	broad.mit.edu	37	6	13588583	13588584	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:13588582_13588583G>GT	uc003nay.3	+	3	447_448	c.135_136G>GT	c.(133-138)aagtttfs	p.K45fs	SIRT5_uc003naw.3_Frame_Shift_Ins_p.K45fs|SIRT5_uc003nax.3_Intron|SIRT5_uc011dit.2_Frame_Shift_Ins_p.K45fs	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	45	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding	p.R44Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	ATTTTCGAAAGTTTTTTGCAAA	0.396												
GPLD1	2822	broad.mit.edu	37	6	24436941	24436942	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:24436940_24436941A>AG	uc003ned.1	-	21	2332_2333	c.2221_2222T>CT	c.(2221-2223)ctgfs	p.L741fs		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	741						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TGCTATCCTCAGGGGGGCTGCC	0.460												
PRSS16	10279	broad.mit.edu	37	6	27218823	27218823	+	Splice_Site	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:27218822_27218822TC>T	uc003nja.3	+	6	607	c.592_splice	c.e6-1	p.F198_splice	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Splice_Site_p.F88_splice|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	198					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTCCCTTAGTTCCCCCATCTC	0.597												
HLA-F	3134	broad.mit.edu	37	6	29694803	29694804	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29694802_29694803G>GT	uc003nno.4	+	6	1303_1304	c.1179_1180G>GT	c.(1177-1182)ttgtttfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535												
HLA-A	3105	broad.mit.edu	37	6	29910372	29910373	+	Frame_Shift_Ins	INS	-	-	G	rs2230954	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:29910371_29910372C>CG	uc003nol.3	+	0	125_126	c.41_42C>CG	c.(40-42)tcgfs	p.S14fs	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Frame_Shift_Ins_p.S14fs|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Frame_Shift_Ins_p.S14fs|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.2_5'Flank|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	14					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTGCTACTCTCGGGGGCCCTGG	0.708									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)		
NFKBIL1	4795	broad.mit.edu	37	6	31515485	31515486	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:31515484_31515485T>TC	uc003nub.3	+	0	132_133	c.13_14T>TC	c.(13-15)tccfs	p.S5fs	DDX39B_uc003ntv.3_5'Flank|ATP6V1G2_uc003ntz.3_5'Flank|ATP6V1G2_uc003nua.3_5'Flank|ATP6V1G2_uc021yur.1_5'Flank|NFKBIL1_uc011dnr.2_Intron|NFKBIL1_uc011dns.2_Intron|NFKBIL1_uc011dnt.1_Intron|NFKBIL1_uc003nuc.3_Frame_Shift_Ins_p.S5fs	NM_005007	NP_001138434	Q9UBC1	IKBL1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 (NFKBIL1), transcript variant 1, mRNA.	5					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						GAGTAACCCCTCCCCCCAGGTT	0.540												
STK38	11329	broad.mit.edu	37	6	36465583	36465584	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36465582_36465583C>CA	uc003omg.3	-	10	1734_1735	c.1146_1147G>TG	c.(1144-1149)tttgaafs	p.F382fs	STK38_uc003omh.3_Frame_Shift_Ins_p.F382fs|STK38_uc003omi.3_Frame_Shift_Ins_p.F382fs	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	382	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAACGCCTTCAAAAAAAGAGT	0.366												
C6orf89	221477	broad.mit.edu	37	6	36867371	36867372	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:36867370_36867371A>AC	uc003omw.3	+	1	334_335	c.171_172A>AC	c.(169-174)agacccfs	p.R57fs	C6orf89_uc003omv.3_5'UTR|C6orf89_uc003omx.3_Frame_Shift_Ins_p.R50fs|C6orf89_uc011dtr.2_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	50						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						AACCTCAGAGACCCCCCCCGCA	0.431												
PHF3	23469	broad.mit.edu	37	6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:64415952_64415952CA>C	uc003pep.1	+	10	3426	c.3401_3401CA>C	c.(3400-3402)ccafs	p.P1134fs	PHF3_uc010kah.1_Frame_Shift_Del_p.P948fs|PHF3_uc003pen.2_Frame_Shift_Del_p.P1046fs|PHF3_uc011dxs.1_Frame_Shift_Del_p.P403fs	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1134					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GATCTTTCTCCAAAAAAAGTA	0.358												
FAM135A	57579	broad.mit.edu	37	6	71269577	71269578	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:71269576_71269577A>AT	uc003pfj.3	+	19	4633_4634	c.4500_4501A>AT	c.(4498-4503)atatttfs	p.I1500fs	FAM135A_uc003pfi.3_Frame_Shift_Ins_p.I1304fs|FAM135A_uc003pfh.3_Frame_Shift_Ins_p.I1287fs|FAM135A_uc003pfl.3_Frame_Shift_Ins_p.I1167fs|FAM135A_uc003pfn.3_Frame_Shift_Ins_p.I706fs|FAM135A_uc010kan.2_Frame_Shift_Ins_p.I242fs|FAM135A_uc003pfp.3_Frame_Shift_Ins_p.I64fs	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1500										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTCGGAAATATTTTTAGAGAA	0.361												
KIAA1009	22832	broad.mit.edu	37	6	84862600	84862601	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:84862599_84862600C>CT	uc010kbp.3	-	22	3390_3391	c.3293_3294G>AG	c.(3292-3294)aagfs	p.K1098fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.K1022fs|KIAA1009_uc003pki.4_Frame_Shift_Ins_p.K484fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	1098					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTATTTCTCTCTTTTTTGCAGC	0.386												
BEND3	57673	broad.mit.edu	37	6	107391602	107391603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:107391601_107391602T>TC	uc003prs.2	-	4	1443_1444	c.793_794A>GA	c.(793-795)gacfs	p.D265fs		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	265	BEN 1.							p.D265fs*54(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCAGGCCAGGTCCCCCCCTGAC	0.653												
SAMD3	154075	broad.mit.edu	37	6	130467188	130467189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:130467187_130467188A>AT	uc003qbw.3	-	9	1490_1491	c.1162_1163T>AT	c.(1162-1164)atgfs	p.M388fs	SAMD3_uc003qbx.3_Frame_Shift_Ins_p.M388fs	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	388										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTAATGTTTCATTTTTTCTTGC	0.302												
SHPRH	257218	broad.mit.edu	37	6	146264834	146264835	+	In_Frame_Ins	INS	-	-	ATC			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:146264833_146264834G>GATC	uc003qlf.3	-	8	2082_2083	c.1683_1684C>GATC	c.(1681-1686)gatcct>gaGATCct	p.561_562DP>EI	SHPRH_uc003qle.3_In_Frame_Ins_p.561_562DP>EI|SHPRH_uc003qlg.1_In_Frame_Ins_p.117_118DP>EI|SHPRH_uc003qlj.1_In_Frame_Ins_p.450_451DP>EI	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	561					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAATAGTAAGGATCATCATCAT	0.361												
PDE10A	10846	broad.mit.edu	37	6	165844963	165844963	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr6:165844962_165844962TA>T	uc003qun.3	-	9	909	c.664_splice	c.e9-1	p.V222_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.V152_splice|PDE10A_uc003quo.3_Splice_Site_p.V232_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	222	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGTTGCAACCTAAAAAAAACA	0.328												
TRIP6	7205	broad.mit.edu	37	7	100465746	100465746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:100465745_100465745AG>A	uc003uww.3	+	2	423	c.253_253AG>A	c.(253-255)aggfs	p.R85fs	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Frame_Shift_Del_p.R64fs|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	85					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTGCAGACAGGGGGGGCCT	0.642												
WNT16	51384	broad.mit.edu	37	7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:120971878_120971878TG>T	uc003vjw.3	+	2	750	c.493_493TG>T	c.(493-495)tggfs	p.W165fs	WNT16_uc003vjv.3_Frame_Shift_Del_p.W155fs|WNT16_uc010lkl.3_Intron	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	165					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	p.C168fs*4(2)|p.H164P(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					AGGCTGGCACTGGGGGGGCTG	0.537												
CHPF2	54480	broad.mit.edu	37	7	150935383	150935384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:150935382_150935383A>AC	uc003wjr.1	+	3	3447_3448	c.1934_1935A>AC	c.(1933-1935)gacfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.D637fs|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	645	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTGGCCCTGACCCCCCCTCCC	0.649												
XRCC2	7516	broad.mit.edu	37	7	152346220	152346221	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr7:152346219_152346220C>CA	uc003wld.3	-	2	436_437	c.350_351G>TG	c.(349-351)ttgfs	p.L117fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TGCAGTACACCAAAAAAAATCT	0.396								Homologous recombination				
CSGALNACT1	55790	broad.mit.edu	37	8	19363163	19363164	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:19363162_19363163G>GA	uc011kyn.2	-	3	1247_1248	c.183_184C>TC	c.(181-186)cttcagfs	p.L61fs	CSGALNACT1_uc011kyo.2_Frame_Shift_Ins_p.L61fs|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Frame_Shift_Ins_p.L61fs|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	61					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCCCACTCCTGAAGGACGGCCT	0.629												
KIAA1967	57805	broad.mit.edu	37	8	22472975	22472975	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:22472974_22472974AC>A	uc003xch.3	+	11	1491	c.1242_1242AC>A	c.(1240-1242)ggafs	p.G414fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	414					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	p.P413P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGCAGCCGGGACCCCCCCGGC	0.582												
MYBL1	4603	broad.mit.edu	37	8	67488453	67488454	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:67488452_67488453G>GT	uc003xwj.3	-	9	1666_1667	c.1259_1260C>AC	c.(1258-1260)aacfs	p.N420fs	MYBL1_uc003xwl.3_Frame_Shift_Ins_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Ins_p.N419fs	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406												
ARFGEF1	10565	broad.mit.edu	37	8	68128856	68128857	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:68128855_68128856T>TG	uc003xxo.2	-	32	5045_5046	c.4655_4656A>CA	c.(4654-4656)ccafs	p.P1552fs	ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.2_Frame_Shift_Ins_p.P535fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421												
ZFHX4	79776	broad.mit.edu	37	8	77767554	77767554	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:77767553_77767553AT>A	uc003yau.2	+	9	8783	c.8396_8396AT>A	c.(8395-8397)gatfs	p.D2799fs	ZFHX4_uc003yaw.1_Frame_Shift_Del_p.D2754fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2754						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATAAAACCGATTTTGATGAG	0.438										HNSCC(33;0.089)		
VPS13B	157680	broad.mit.edu	37	8	100050671	100050671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100050670_100050670CT>C	uc003yiv.3	+	2	278	c.167_167CT>C	c.(166-168)actfs	p.T56fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yit.3_Frame_Shift_Del_p.T56fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.T56fs|VPS13B_uc003yis.3_Frame_Shift_Del_p.T56fs|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	56					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACCATTCACTTTTTTAAGT	0.269												
RGS22	26166	broad.mit.edu	37	8	100990176	100990176	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:100990175_100990175CA>C	uc003yjb.1	-	22	3684	c.3489_3489TG>G	c.(3487-3489)ttgfs	p.L1163fs	RGS22_uc003yja.1_Frame_Shift_Del_p.L982fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.L1151fs|RGS22_uc022azf.1_Frame_Shift_Del_p.L552fs	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1163					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTAGGACTGCCAATTTTTTTT	0.313												
EPPK1	83481	broad.mit.edu	37	8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:144941377_144941377AC>A	uc003zaa.1	-	0	6058	c.6045_6045GT>T	c.(6043-6045)ggtfs	p.G2015fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2015						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCGATGACACCCCCCGTGG	0.622												
ADCK5	203054	broad.mit.edu	37	8	145616391	145616391	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145616390_145616390GT>G	uc003zch.3	+	5	654	c.600_600GT>G	c.(598-600)gagfs	p.E200fs	ADCK5_uc003zci.3_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	200	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCTTCCAGGAGTTTGACTACC	0.617												
ARHGAP39	80728	broad.mit.edu	37	8	145773476	145773476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:145773475_145773475AC>A	uc003zds.1	-	5	1550	c.995_995GT>T	c.(994-996)gtgfs	p.V332fs	ARHGAP39_uc011llk.1_Frame_Shift_Del_p.V332fs|ARHGAP39_uc003zdt.1_Frame_Shift_Del_p.V332fs	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	332	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	p.V332M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTCGAATTGCACGTCCATGGG	0.706												
ZNF517	340385	broad.mit.edu	37	8	146029087	146029087	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr8:146029086_146029086GC>G	uc003zed.1	+	2	201	c.94_94GC>G	c.(94-96)gccfs	p.A32fs	ZNF517_uc010mgd.1_5'UTR|ZNF517_uc003zee.1_Non-coding_Transcript|ZNF517_uc011llm.1_Intron|ZNF517_uc003zef.1_Frame_Shift_Del_p.A32fs	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Homo sapiens zinc finger protein 517 (ZNF517), mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GAGTTGCCTGGCCCCCGACCA	0.587												
CDC37L1	55664	broad.mit.edu	37	9	4688589	4688589	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:4688588_4688588CA>C	uc003zio.3	+	2	692	c.490_490CA>C	c.(490-492)caafs	p.Q164fs		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	164	Self-association and interaction with Hsp90.|Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AAAATATGAGCAAAAAATCAG	0.249												
RASEF	158158	broad.mit.edu	37	9	85615234	85615234	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:85615233_85615233TG>T	uc004amo.1	-	12	1837	c.1576_splice	c.e12-1	p.T526_splice		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	526					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGGTCTGTCTGGGGGGAAAA	0.443												
ABL1	25	broad.mit.edu	37	9	133748246	133748246	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:133748245_133748245AG>A	uc004bzw.3	+	6	911	c.908_splice	c.e6-2	p.G303_splice	ABL1_uc004bzv.3_Splice_Site_p.G322_splice	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	303	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCTTGTTGGCAGGGGTCTGCA	0.537			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
FAM78A	286336	broad.mit.edu	37	9	134151347	134151348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:134151346_134151347T>TG	uc004cak.3	-	0	560_561	c.220_221A>CA	c.(220-222)cagfs	p.Q74fs		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA.	74										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CATGACCACCTGGGCCGAGGCC	0.624												
RALGDS	5900	broad.mit.edu	37	9	135984104	135984106	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr9:135984103_135984105CAGG>C	uc004cco.3	-	4	753_755	c.733_735CCTG>G	c.(733-735)ctg>G	p.L245del	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_In_Frame_Del_p.L233del|RALGDS_uc004ccr.3_In_Frame_Del_p.L244del|RALGDS_uc011mcv.2_In_Frame_Del_p.L216del|RALGDS_uc004ccs.3_In_Frame_Del_p.L190del|RALGDS_uc011mcw.2_In_Frame_Del_p.L316del|RALGDS_uc004ccv.1_In_Frame_Del_p.L14del|RALGDS_uc004ccu.1_In_Frame_Del_p.L14del	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	245	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCAGCTGGGCCAGGAGAAGGTGG	0.640			T	CIITA	"""PMBL, Hodgkin Lymphona, """							
ERCC6	2074	broad.mit.edu	37	10	50669424	50669425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:50669423_50669424T>TC	uc001jhs.4	-	18	4111_4112	c.3957_3958A>GA	c.(3955-3960)gggattfs	p.G1319fs	ERCC6_uc009xod.3_Frame_Shift_Ins_p.G479fs|ERCC6_uc010qgr.2_Frame_Shift_Ins_p.G689fs|ERCC6_uc001jhr.4_Frame_Shift_Ins_p.G687fs	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1319					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding	p.R1318S(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCACCAGAAATCCCCCTGTGGC	0.540								Direct reversal of damage;Nucleotide excision repair (NER)				
HERC4	26091	broad.mit.edu	37	10	69750775	69750776	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:69750774_69750775T>TA	uc001jng.4	-	13	1643	c.1332_splice	c.e13-1	p.S444_splice	HERC4_uc009xpq.3_Splice_Site|HERC4_uc001jnf.4_Splice_Site|HERC4_uc001jnh.4_Splice_Site_p.S444_splice|HERC4_uc009xpr.3_Splice_Site_p.S444_splice|HERC4_uc001jni.4_Splice_Site_p.S188_splice|HERC4_uc021prr.1_5'Flank	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	444					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCATCATTGCTaaaaaacagaa	0.262												
IDE	3416	broad.mit.edu	37	10	94234611	94234613	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:94234610_94234612CTTT>C	uc001kia.3	-	16	2178_2180	c.2102_2104AAAG>G	c.(2101-2106)aaagaa>aGaa	p.701_702KE>R	IDE_uc010qnp.2_In_Frame_Del_p.146_147KE>R|IDE_uc001khz.3_In_Frame_Del_p.146_147KE>R	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	701					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAGAGCTTCTTTTAACTCATC	0.389												
CYP17A1	1586	broad.mit.edu	37	10	104596942	104596943	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:104596941_104596942A>AT	uc001kwg.3	-	0	349_350	c.177_178T>AT	c.(175-180)aaatatfs	p.K59fs		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	59					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.K59fs*16(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	ATGGGGCCATATTTTTTCTGCA	0.540												
KIAA1598	57698	broad.mit.edu	37	10	118713624	118713626	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:118713623_118713625TTCA>T	uc021pzk.1	-	4	862_864	c.364_366TGAA>A	c.(364-366)gaa>A	p.E122del	KIAA1598_uc009xyw.3_In_Frame_Del_p.E122del|KIAA1598_uc001lcz.4_In_Frame_Del_p.E122del|KIAA1598_uc010qso.2_In_Frame_Del_p.E62del|KIAA1598_uc010qsp.1_In_Frame_Del_p.E122del|KIAA1598_uc010qsq.1_In_Frame_Del_p.E62del|KIAA1598_uc001lcy.4_In_Frame_Del_p.E92del	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	122					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TAGTCGAATCTTCATCATCAATG	0.379												
RAB11FIP2	22841	broad.mit.edu	37	10	119798647	119798647	+	Frame_Shift_Del	DEL	T	T	-	rs35192242		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:119798646_119798646CT>C	uc001ldj.2	-	2	1542	c.1102_1102AG>G	c.(1102-1104)gatfs	p.D368fs	RAB11FIP2_uc009xyz.2_Frame_Shift_Del_p.D368fs	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	368					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		CTTCTGCTATCTTTTTTTCCA	0.338												
EBF3	253738	broad.mit.edu	37	10	131666125	131666125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr10:131666124_131666124AC>A	uc021qav.1	-	8	866	c.765_765GT>T	c.(763-765)ggtfs	p.G255fs	EBF3_uc001lki.2_Frame_Shift_Del_p.G269fs	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	278					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGACGGTGGCACCCCCCGTGG	0.577												
NLRP14	338323	broad.mit.edu	37	11	7092507	7092509	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:7092506_7092508TGAA>T	uc001mfb.1	+	11	3572_3574	c.3249_3251TGAA>T	c.(3247-3252)aatgaa>aaTa	p.E1085del		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1085					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E1084V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ACTATCATAATGAAGAAGATGTG	0.365												
PAMR1	25891	broad.mit.edu	37	11	35513670	35513670	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:35513669_35513669AC>A	uc001mwf.3	-	2	346	c.303_303GT>T	c.(301-303)ggtfs	p.G101fs	PAMR1_uc001mwg.3_Frame_Shift_Del_p.G101fs|PAMR1_uc010rew.2_Frame_Shift_Del_p.G101fs|PAMR1_uc010rex.2_Frame_Shift_Del_p.G61fs	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	101					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATG	0.522												
RAG1	5896	broad.mit.edu	37	11	36597723	36597724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:36597722_36597723T>TG	uc021qgb.1	+	0	2868_2869	c.2868_2869T>TG	c.(2866-2871)attgggfs	p.I956fs	RAG1_uc001mwt.3_Intron|RAG1_uc001mwu.4_Frame_Shift_Ins_p.I956fs	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	956					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGGCTCCATTGGGGCATGGGC	0.436									Familial Hemophagocytic Lymphohistiocytosis			
OR5M3	219482	broad.mit.edu	37	11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:56237708_56237708GT>G	uc010rjk.2	-	0	307	c.266_266AC>C	c.(265-267)acafs	p.T89fs	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					ATAAGTAATTGTTTTTTTATC	0.363												
OR5AK2	390181	broad.mit.edu	37	11	56757091	56757091	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:56757090_56757090GA>G	uc010rjp.2	+	0	702	c.702_702GA>G	c.(700-702)aggfs	p.R234fs		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTGCAGGAAGGAAAAAATCCT	0.423												
C11orf9	745	broad.mit.edu	37	11	61539013	61539014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:61539012_61539013T>TC	uc001nsc.1	+	5	877_878	c.781_782T>TC	c.(781-783)tccfs	p.S261fs	C11orf9_uc001nse.1_Frame_Shift_Ins_p.S252fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	261	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S255fs*74(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						GCACTCTGAATCCCCCCCCAGC	0.634												
EML3	256364	broad.mit.edu	37	11	62378802	62378803	+	Frame_Shift_Ins	INS	-	-	G	rs11553576	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:62378801_62378802T>TG	uc010rly.1	-	2	517_518	c.209_210A>CA	c.(208-210)ccafs	p.P70fs	EML3_uc001ntr.1_Frame_Shift_Ins_p.P42fs|EML3_uc001nts.1_Frame_Shift_Ins_p.P42fs|EML3_uc001ntt.1_5'UTR|EML3_uc001ntu.1_Frame_Shift_Ins_p.P70fs|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	70						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTGGCAGTCCTGGGGGGGCTGC	0.604												
CDC42BPG	55561	broad.mit.edu	37	11	64591974	64591974	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:64591973_64591973AG>A	uc001obs.4	-	36	4628	c.4628_4628CT>T	c.(4627-4629)ctafs	p.L1543fs		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1543					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TTCAGGGGATAGGGGGAGGCT	0.562												
C11orf80	79703	broad.mit.edu	37	11	66605851	66605851	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:66605850_66605850GA>G	uc021qmd.1	+	14	1688	c.1681_1681GA>G	c.(1681-1683)gaafs	p.E561fs	C11orf80_uc010rpl.2_Frame_Shift_Del_p.E195fs|C11orf80_uc001ojj.3_Frame_Shift_Del_p.E159fs	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	406										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GCTAACCCTAGAAAAAAAGGA	0.478												
CLPB	81570	broad.mit.edu	37	11	72145303	72145303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:72145302_72145302GC>G	uc001osj.3	-	0	267	c.217_217GC>C	c.(217-219)cgcfs	p.R73fs	CLPB_uc010rqx.2_5'UTR|CLPB_uc010rqy.2_Frame_Shift_Del_p.R73fs|CLPB_uc001osk.3_Frame_Shift_Del_p.R73fs|CLPB_uc010rqz.2_5'UTR	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	73					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCTCCCTGGCGCCCCCCGGTG	0.687											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EED	8726	broad.mit.edu	37	11	85961426	85961427	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:85961425_85961426T>TG	uc001pbp.3	+	1	668_669	c.202_203T>TG	c.(202-204)tggfs	p.W68fs	EED_uc010rtm.2_Frame_Shift_Ins_p.W68fs|EED_uc001pbq.3_Frame_Shift_Ins_p.W68fs|EED_uc001pbr.3_Frame_Shift_Ins_p.W68fs	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	68					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AAGGAAAAGTTGGGGAAAGGGA	0.401												
ADAMTS8	11095	broad.mit.edu	37	11	130278728	130278728	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr11:130278727_130278727CG>C	uc001qgg.4	-	6	2217	c.1859_1859CG>G	c.(1858-1860)cggfs	p.R620fs	ADAMTS8_uc001qgf.3_Frame_Shift_Del_p.R101fs	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	620	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCAGCGGTCCCGGGGGGACAC	0.572												
CD4	920	broad.mit.edu	37	12	6924043	6924043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:6924042_6924042AG>A	uc001qqv.2	+	4	749	c.491_491AG>A	c.(490-492)cagfs	p.Q164fs	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Frame_Shift_Del_p.Q109fs|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	164	Ig-like C2-type 1.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAG	0.562												
KLRG1	10219	broad.mit.edu	37	12	9142308	9142309	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:9142307_9142308C>CA	uc001qvh.3	+	0	87_88	c.76_77C>CA	c.(76-78)caafs	p.Q26fs	KLRG1_uc001qvg.3_Frame_Shift_Ins_p.Q26fs	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	26					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TGGACCACAGCAAAAATGTGAG	0.431												
BICD1	636	broad.mit.edu	37	12	32480463	32480464	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:32480462_32480463A>AG	uc001rku.3	+	4	1154_1155	c.1073_1074A>AG	c.(1072-1074)aagfs	p.K358fs	BICD1_uc001rkv.3_Frame_Shift_Ins_p.K358fs|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	358					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GAACACACCAAGGGGGCACTGA	0.559												
SLC38A1	81539	broad.mit.edu	37	12	46598325	46598325	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:46598324_46598324GA>G	uc009zkj.1	-	9	1381	c.696_696TC>C	c.(694-696)ttcfs	p.F232fs	SLC38A1_uc001rpb.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc001rpc.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc001rpd.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc001rpe.3_Frame_Shift_Del_p.F232fs|SLC38A1_uc010slh.2_Frame_Shift_Del_p.F205fs|SLC38A1_uc001rpa.3_Frame_Shift_Del_p.F232fs	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	232					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCACAATTAGGAAAAAAACCA	0.289												
ITGA7	3679	broad.mit.edu	37	12	56092301	56092301	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:56092300_56092300AC>A	uc001shh.3	-	6	1291	c.1071_1071GT>T	c.(1069-1071)ggtfs	p.G357fs	ITGA7_uc001shg.3_Frame_Shift_Del_p.G353fs|ITGA7_uc010sps.2_Frame_Shift_Del_p.G260fs|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Frame_Shift_Del_p.G240fs	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	397					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CATACACAGCACCCCCCAGCT	0.607												
LRP1	4035	broad.mit.edu	37	12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-	rs139915490		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:57572241_57572241CG>C	uc001snd.3	+	26	4927	c.4461_4461CG>C	c.(4459-4461)tacfs	p.Y1487fs		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGG	0.592												
METTL1	4234	broad.mit.edu	37	12	58163383	58163384	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:58163382_58163383A>AG	uc010ssd.2	-	3	586_587	c.538_539T>CT	c.(538-540)ctgfs	p.L180fs	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_Frame_Shift_Ins_p.P118fs|METTL21B_uc001sqf.3_5'Flank|METTL21B_uc001sqg.3_5'Flank|METTL21B_uc009zqd.3_5'Flank	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	180						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			TTCTGCTAGCAGGGTGGGACTG	0.525												
MON2	23041	broad.mit.edu	37	12	62954330	62954331	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:62954329_62954330C>CA	uc001sre.3	+	25	3859_3860	c.3468_3469C>CA	c.(3466-3471)agcaaafs	p.S1156fs	MON2_uc010ssn.2_Frame_Shift_Ins_p.S1156fs|MON2_uc009zqj.3_Frame_Shift_Ins_p.S1156fs|MON2_uc010ssl.2_Frame_Shift_Ins_p.S1084fs|MON2_uc010ssm.2_Frame_Shift_Ins_p.S1133fs|MON2_uc001srf.3_Frame_Shift_Ins_p.S919fs|MON2_uc001srg.3_Frame_Shift_Ins_p.S31fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1157					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CAGCACTCAGCAAAAACAATGA	0.396												
ALX1	8092	broad.mit.edu	37	12	85695103	85695105	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:85695102_85695104TCAA>T	uc001tae.4	+	3	834_836	c.830_832TCAA>T	c.(829-834)ctcaac>cTac	p.N279del		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	279					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CACGTGCCCCTCAACAATTTTTT	0.473												
TPCN1	53373	broad.mit.edu	37	12	113704017	113704017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr12:113704016_113704016AC>A	uc001tux.3	+	4	659	c.485_485AC>A	c.(484-486)cacfs	p.H162fs	TPCN1_uc001tuw.3_Frame_Shift_Del_p.H90fs|TPCN1_uc010syt.1_Frame_Shift_Del_p.H22fs	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	90						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCTTCACCCACCCCAAGGAT	0.587												
NBEA	26960	broad.mit.edu	37	13	36125104	36125105	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:36125103_36125104T>TA	uc021rid.1	+	42	7274_7275	c.6740_6741T>TA	c.(6739-6741)gtafs	p.V2247fs	NBEA_uc021ric.1_Frame_Shift_Ins_p.V2244fs|NBEA_uc010abi.3_Frame_Shift_Ins_p.V903fs|NBEA_uc010tee.1_Frame_Shift_Ins_p.V40fs|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Frame_Shift_Ins_p.V40fs|NBEA_uc010teg.1_Frame_Shift_Ins_p.V40fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2247						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAAGCAACAGTAAAAAAAGTTG	0.381												
AKAP11	11215	broad.mit.edu	37	13	42874358	42874358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:42874357_42874357CA>C	uc001uys.2	+	7	1650	c.1475_1475CA>C	c.(1474-1476)gcafs	p.A492fs		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	492					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GAAGACTATGCAAAAAGCATT	0.353												
ZC3H13	23091	broad.mit.edu	37	13	46543661	46543662	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:46543660_46543661G>GT	uc010tfw.1	-	12	3024_3025	c.3018_3019C>AC	c.(3016-3021)aaacgtfs	p.K1006fs	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Frame_Shift_Ins_p.K1006fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.K1006fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1006	Lys-rich.						nucleic acid binding|zinc ion binding	p.R1007fs*2(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GATTTTTTACGTTTTTTTTCAA	0.371												
RCBTB1	55213	broad.mit.edu	37	13	50140831	50140831	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:50140830_50140830CT>C	uc001vde.1	-	3	462	c.201_201AG>G	c.(199-201)aagfs	p.K67fs		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	67					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AGCCTTCTAGCTTTTTGGGTA	0.403												
TDRD3	81550	broad.mit.edu	37	13	61102848	61102849	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:61102847_61102848T>TA	uc001vhz.4	+	10	1997_1998	c.1209_1210T>TA	c.(1207-1212)tttaaafs	p.F403fs	TDRD3_uc010aef.2_Frame_Shift_Ins_p.F228fs|TDRD3_uc001via.3_Frame_Shift_Ins_p.F403fs|TDRD3_uc010aeg.3_Frame_Shift_Ins_p.F496fs|TDRD3_uc001vib.4_Frame_Shift_Ins_p.F402fs	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	403					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ATGGTGCTTTTAAAAAAAGAGA	0.371												
MYCBP2	23077	broad.mit.edu	37	13	77725048	77725049	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:77725047_77725048A>AT	uc021rks.1	-	46	7219_7220	c.6952_6953T>AT	c.(6952-6954)atgfs	p.M2318fs	MYCBP2_uc010aev.3_Frame_Shift_Ins_p.M1684fs	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGTAAAGACATTTTTTTCTGA	0.371												
NALCN	259232	broad.mit.edu	37	13	101755524	101755525	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:101755523_101755524C>CA	uc001vox.1	-	26	3246	c.3057_splice	c.e26+1	p.L1019_splice		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1019						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTCACATACCAAAAAAATTTC	0.431												
ITGBL1	9358	broad.mit.edu	37	13	102105191	102105191	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr13:102105190_102105190TC>T	uc001vpb.3	+	0	225	c.6_6TC>T	c.(4-6)cgtfs	p.R2fs	ITGBL1_uc010agb.3_Frame_Shift_Del_p.R2fs|ITGBL1_uc001vpc.4_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	2					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.R2H(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCAGCATGCGTCCCCCAGGCT	0.607												
CPNE6	9362	broad.mit.edu	37	14	24545608	24545608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:24545607_24545607TC>T	uc010tnv.2	+	12	1408	c.1262_1262TC>T	c.(1261-1263)atcfs	p.I421fs	CPNE6_uc001wlm.3_Frame_Shift_Del_p.I191fs|CPNE6_uc001wll.3_Frame_Shift_Del_p.I366fs|CPNE6_uc001wln.3_5'UTR	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	366	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GGGGCTCGAATCCCCCCCAAC	0.602												
GZMH	2999	broad.mit.edu	37	14	25075938	25075939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:25075937_25075938G>GC	uc001wpr.1	-	4	657_658	c.612_613C>GC	c.(610-615)gggcccfs	p.G204fs	GZMH_uc010aly.1_Frame_Shift_Ins_p.G118fs|GZMH_uc010alz.1_Frame_Shift_Ins_p.G73fs	NM_033423	NP_219491	P20718	GRAH_HUMAN	Homo sapiens granzyme H (cathepsin G-like 2, protein h-CCPX) (GZMH), mRNA.	204	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CACACGAGGGGCCCCCCGGAGT	0.535												
DACT1	51339	broad.mit.edu	37	14	59112122	59112123	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr14:59112121_59112122T>TA	uc001xdw.3	+	3	944_945	c.780_781T>TA	c.(778-783)tctaaafs	p.S260fs	DACT1_uc010trv.2_5'UTR|DACT1_uc001xdx.3_Frame_Shift_Ins_p.S223fs|DACT1_uc010trw.2_5'UTR	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	260					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ATCTGGTGTCTAAAAACGGGAA	0.500												
PLA2G4E	123745	broad.mit.edu	37	15	42276069	42276070	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:42276068_42276069C>CAA	uc021sjp.1	-	19	2490_2491	c.2490_2491G>TTG	c.(2488-2493)tttgacfs	p.F830fs	PLA2G4E_uc010udc.2_Frame_Shift_Ins_p.F273fs|PLA2G4E_uc001zov.2_Frame_Shift_Ins_p.F454fs	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	818	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		ACCAGCTTGTCAAAGGTGGCCT	0.535												
EIF3J	8669	broad.mit.edu	37	15	44849811	44849812	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:44849810_44849811G>GT	uc001ztv.3	+	5	660_661	c.533_534G>GT	c.(532-534)agtfs	p.S178fs	EIF3J_uc010ueg.2_Intron	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	178						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TATTATGCCAGTTTTTTGGAAG	0.337												
SPPL2A	84888	broad.mit.edu	37	15	51028402	51028402	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:51028401_51028401TA>T	uc001zyv.3	-	8	1011	c.831_splice	c.e8-1	p.T277_splice		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	277						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CATGCAATCCTAAAAAACAGA	0.358												
CA12	771	broad.mit.edu	37	15	63618547	63618547	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:63618546_63618546CT>C	uc002amc.3	-	10	1159	c.1003_1003AG>G	c.(1003-1005)ggtfs	p.G335fs	CA12_uc002amd.3_Frame_Shift_Del_p.G324fs|CA12_uc002ame.3_Frame_Shift_Del_p.G264fs	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	335					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TTGTTATCACCTTTTTTGATA	0.517												
ZNF609	23060	broad.mit.edu	37	15	64970559	64970560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:64970558_64970559T>TC	uc002ann.3	+	4	3646_3647	c.3646_3647T>TC	c.(3646-3648)tccfs	p.S1216fs		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1216						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTGTCCTCCCCACTTACC	0.594												
IGDCC4	57722	broad.mit.edu	37	15	65703598	65703598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:65703597_65703597GC>G	uc002aou.1	-	1	392	c.182_182GC>C	c.(181-183)gctfs	p.A61fs		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	61	Ig-like C2-type 1.|Poly-Ala.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGCGGCAGCAGCCCCCAGGCT	0.642												
DPP8	54878	broad.mit.edu	37	15	65771350	65771351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:65771349_65771350T>TG	uc002aov.3	-	10	2950_2951	c.1372_1373A>CA	c.(1372-1374)caafs	p.Q458fs	DPP8_uc002aow.3_Frame_Shift_Ins_p.Q458fs|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Frame_Shift_Ins_p.Q442fs|DPP8_uc002aox.3_Frame_Shift_Ins_p.Q442fs|DPP8_uc002aoy.3_Frame_Shift_Ins_p.Q458fs|DPP8_uc002aoz.3_Frame_Shift_Ins_p.Q442fs|DPP8_uc010bhj.3_Frame_Shift_Ins_p.Q458fs|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	458					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCGTGACTTTGGGGAAAAACA	0.287												
SCAMP2	10066	broad.mit.edu	37	15	75146364	75146364	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:75146363_75146363TG>T	uc002azb.1	-	3	299	c.225_splice	c.e3+1	p.Q75_splice	SCAMP2_uc002aza.1_Splice_Site	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	75					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAGCACTACCTGGGGGGTCGG	0.572												
IDH2	3418	broad.mit.edu	37	15	90631918	90631919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:90631917_90631918T>TC	uc002box.3	-	3	521_522	c.435_436A>GA	c.(433-438)gggactfs	p.G145fs	IDH2_uc010uqb.2_Frame_Shift_Ins_p.G93fs|IDH2_uc010uqc.2_Frame_Shift_Ins_p.G15fs	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	145					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CGGAAGACAGTCCCCCCCAGGA	0.564			M		GBM							
ADAMTS17	170691	broad.mit.edu	37	15	100801844	100801845	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr15:100801843_100801844T>TA	uc002bvv.1	-	6	953	c.874_splice	c.e6-1	p.A292_splice	ADAMTS17_uc002bvx.1_Splice_Site_p.A49_splice	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	292	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CAACTTAGCCTAAAAAAAGTCA	0.510												
SPSB3	90864	broad.mit.edu	37	16	1828187	1828187	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:1828186_1828186GC>G	uc002cmu.3	-	3	532	c.441_441GC>C	c.(439-441)ggcfs	p.G147fs	SPSB3_uc002cmt.3_Frame_Shift_Del_p.G19fs|SPSB3_uc010uvm.2_3'UTR	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	147	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGAAGTGCTGGCCCTCCCCCA	0.632												
ABCC1	4363	broad.mit.edu	37	16	16142120	16142121	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:16142119_16142120G>GC	uc010bvi.3	+	9	1514_1515	c.1339_1340G>GC	c.(1339-1341)gccfs	p.A447fs	ABCC1_uc010bvj.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvk.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvl.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc010bvm.3_Frame_Shift_Ins_p.A447fs|ABCC1_uc002del.4_Frame_Shift_Ins_p.A331fs|ABCC1_uc010bvn.3_Frame_Shift_Ins_p.A310fs	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	447	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATCTGGTCAGCCCCCCTGCAA	0.545												
DCUN1D3	123879	broad.mit.edu	37	16	20871267	20871268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:20871266_20871267T>TC	uc002dhz.3	-	2	997_998	c.856_857A>GA	c.(856-858)gaafs	p.E286fs	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	286					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ACCTCTCCCTTCCCCTTCTCTT	0.574												
ATXN2L	11273	broad.mit.edu	37	16	28847356	28847357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:28847355_28847356G>GC	uc002dqy.3	+	21	3164_3165	c.2997_2998G>GC	c.(2995-3000)gggcccfs	p.G999fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002dra.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002drb.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002drc.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc010vdb.2_Frame_Shift_Ins_p.G1005fs|ATXN2L_uc002dre.3_Frame_Shift_Ins_p.G999fs|ATXN2L_uc002drf.3_Frame_Shift_Ins_p.G408fs|ATXN2L_uc002drg.3_Frame_Shift_Ins_p.G282fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	999						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTCATGGGGGGCCCCCCCAAGG	0.688												
CTCF	10664	broad.mit.edu	37	16	67645339	67645340	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:67645338_67645339C>CAA	uc002etl.3	+	2	1047_1048	c.603_604C>CAA	c.(601-606)gccaaafs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAAA	0.475												
PRMT7	54496	broad.mit.edu	37	16	68380061	68380062	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:68380060_68380061TGA>T	uc002evy.2	+	10	1412_1413	c.1068_1069TGA>T	c.(1066-1071)aatgagfs	p.N356fs	PRMT7_uc010vlg.2_Frame_Shift_Del_p.N306fs|PRMT7_uc002evz.2_Frame_Shift_Del_p.N202fs	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	356					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CTGAAAAGAATGAGAGAGTCCG	0.574												
ZFHX3	463	broad.mit.edu	37	16	72822586	72822587	+	Frame_Shift_Ins	INS	-	-	G	rs66799632		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:72822585_72822586T>TG	uc002fck.3	-	9	10262_10263	c.9589_9590A>CA	c.(9589-9591)cagfs	p.Q3197fs	ZFHX3_uc002fcl.3_Frame_Shift_Ins_p.Q2283fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3197	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ctgctgctgctgGGGGGGTTGC	0.658												
ZFHX3	463	broad.mit.edu	37	16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:72991757_72991757TC>T	uc002fck.3	-	1	2961	c.2288_2288GA>A	c.(2287-2289)gagfs	p.E763fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGACCTGCTCCCCCCCTCC	0.622												
ZC3H18	124245	broad.mit.edu	37	16	88691141	88691142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr16:88691140_88691141A>AC	uc010voz.2	+	12	2301_2302	c.2101_2102A>AC	c.(2101-2103)accfs	p.T701fs	ZC3H18_uc002fky.3_Frame_Shift_Ins_p.T677fs|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	677	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R680fs*5(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GCCAGCCAGGACCCCCCCCAGG	0.663												
DNAH2	146754	broad.mit.edu	37	17	7734796	7734796	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7734795_7734795TC>T	uc002giu.1	+	79	12561	c.12547_12547TC>T	c.(12547-12549)tccfs	p.S4183fs	DNAH2_uc010cnm.1_Frame_Shift_Del_p.S1121fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4183					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTCGACCCCTCCCCCCTCAA	0.552												
CNTROB	116840	broad.mit.edu	37	17	7851880	7851880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7851879_7851879TG>T	uc002gjp.3	+	17	3405	c.2455_2455TG>T	c.(2455-2457)tggfs	p.W819fs	CNTROB_uc002gjq.3_Frame_Shift_Del_p.W819fs|CNTROB_uc002gjr.3_Frame_Shift_Del_p.W721fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	819	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGCTCGGGGCTGGGGGGCTCT	0.577												
CNTROB	116840	broad.mit.edu	37	17	7852809	7852810	+	Frame_Shift_Ins	INS	-	-	G	rs35508310		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:7852808_7852809C>CG	uc002gjp.3	+	19	3708_3709	c.2758_2759C>CG	c.(2758-2760)cggfs	p.R920fs	CNTROB_uc002gjq.3_Frame_Shift_Ins_p.R898fs|CNTROB_uc002gjr.3_Frame_Shift_Ins_p.R801fs	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	898					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATGAGGAGCCGGGGGGGAGTC	0.550												
TMEM100	55273	broad.mit.edu	37	17	53798136	53798136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:53798135_53798135TA>T	uc002iuj.4	-	1	608	c.297_297TA>A	c.(295-297)ttafs	p.L99fs	TMEM100_uc002iuk.4_Frame_Shift_Del_p.L99fs|TMEM100_uc021uai.1_Frame_Shift_Del_p.L99fs	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	99						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TGGAGGCTAGTAAAAAAAGTC	0.502												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
CA4	762	broad.mit.edu	37	17	58234015	58234017	+	In_Frame_Del	DEL	CTT	CTT	-	rs121434552		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:58234014_58234016GCTT>G	uc002iym.4	+	2	300_302	c.206_208GCTT>G	c.(205-210)cgcttc>cGtc	p.F72del	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	72					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	AAACTGGGACGCTTCTTCTTCTC	0.571												
HELZ	9931	broad.mit.edu	37	17	65105425	65105426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:65105424_65105425T>TA	uc010wqk.2	-	28	4486_4487	c.4299_4300A>TA	c.(4297-4302)tttaatfs	p.F1433fs	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Frame_Shift_Ins_p.F1432fs|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ACTGCACTATTAAAAAAAGCAT	0.540												
UNK	85451	broad.mit.edu	37	17	73780920	73780922	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:73780919_73780921GAAT>G	uc002jpm.3	+	1	186_188	c.186_188GAAT>G	c.(184-189)ctgaat>ctGt	p.N64del	UNK_uc021udd.1_5'UTR|MIR4738_uc021udc.1_5'Flank|UNK_uc002jpn.3_Non-coding_Transcript|UNK_uc002jpo.3_Non-coding_Transcript	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCGCAGACTGAATAATAAAAGG	0.690												
ENGASE	64772	broad.mit.edu	37	17	77076399	77076400	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:77076398_77076399G>GT	uc002jwv.3	+	4	683_684	c.675_676G>GT	c.(673-678)cagtttfs	p.Q225fs	ENGASE_uc002jwu.1_Frame_Shift_Ins_p.Q225fs|ENGASE_uc010wtz.1_Frame_Shift_Ins_p.Q39fs|ENGASE_uc002jww.3_5'UTR	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	225						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGATCACTCAGTTTTTTCGTTT	0.604												
CBX4	8535	broad.mit.edu	37	17	77808751	77808752	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:77808750_77808751T>TG	uc002jxe.3	-	4	853_854	c.690_691A>CA	c.(688-693)cccaacfs	p.P230fs		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	230	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATCATTCCGTTGGGGGGGCCCT	0.639											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CD7	924	broad.mit.edu	37	17	80274823	80274823	+	Frame_Shift_Del	DEL	G	G	-	rs137963164	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr17:80274822_80274822CG>C	uc002kel.1	-	1	227	c.118_118CG>G	c.(118-120)gtgfs	p.V40fs	CD7_uc010din.3_Frame_Shift_Del_p.V40fs|CD7_uc010wvk.1_Frame_Shift_Del_p.V40fs	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	40	Ig-like.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GAGGCTCCCACGGGGACAGTC	0.627												
ANKRD12	23253	broad.mit.edu	37	18	9221975	9221976	+	In_Frame_Ins	INS	-	-	TGA			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:9221974_9221975C>CTGA	uc002knv.3	+	7	1184_1185	c.920_921C>CTGA	c.(919-921)tct>tCTGA	p.S307S	ANKRD12_uc010wzn.2_In_Frame_Ins_p.S307S|ANKRD12_uc002knw.3_In_Frame_Ins_p.S284S|ANKRD12_uc002knx.3_In_Frame_Ins_p.S284S|ANKRD12_uc010dkx.1_5'UTR	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	307						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTGCCTTTATCTGATGATGATG	0.371												
CDH2	1000	broad.mit.edu	37	18	25570160	25570161	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:25570159_25570160A>AT	uc002kwg.2	-	9	1958_1959	c.1499_1500T>AT	c.(1498-1500)aatfs	p.N500fs	CDH2_uc010xbn.1_Frame_Shift_Ins_p.N469fs	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	500	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGATCTTAGGATTGGGGGCAAA	0.455												
MRO	83876	broad.mit.edu	37	18	48331584	48331585	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:48331583_48331584T>TC	uc010dpa.3	-	3	560_561	c.411_412A>GA	c.(409-414)gggaaafs	p.G137fs	MRO_uc010xdn.2_Frame_Shift_Ins_p.G123fs|MRO_uc002lew.4_Frame_Shift_Ins_p.G123fs|MRO_uc010dpb.3_Frame_Shift_Ins_p.G137fs|MRO_uc010dpc.3_Frame_Shift_Ins_p.G123fs|MRO_uc002lex.4_Frame_Shift_Ins_p.G123fs	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	123						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCCAAACCTTTCCCCTGGATCT	0.426												
ZNF407	55628	broad.mit.edu	37	18	72775214	72775216	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72775213_72775215AAGG>A	uc002llw.2	+	7	5589_5591	c.5536_5538AAGG>A	c.(5536-5538)aag>A	p.K1846del		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V1845I(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCCCCTCGTCAAGGAGAAGCCCC	0.635												
ZADH2	284273	broad.mit.edu	37	18	72913756	72913756	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr18:72913755_72913755TC>T	uc002llx.3	-	1	1018	c.750_750GA>A	c.(748-750)ggafs	p.G250fs	ZADH2_uc010dqv.3_Frame_Shift_Del_p.G127fs	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	250						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CAAACATGGCTCCCCCAACAG	0.502												
NFIC	4782	broad.mit.edu	37	19	3449069	3449069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:3449068_3449068TC>T	uc010xhi.2	+	6	1085	c.1015_1015TC>T	c.(1015-1017)tccfs	p.S339fs	NFIC_uc002lxo.3_Frame_Shift_Del_p.S330fs|NFIC_uc010xhh.2_Frame_Shift_Del_p.S330fs|NFIC_uc010xhj.2_Frame_Shift_Del_p.S339fs|NFIC_uc002lxp.3_Frame_Shift_Del_p.S339fs	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	339					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAACAGCCCGTCCCCCCAGGA	0.667												
FUT6	2528	broad.mit.edu	37	19	5832344	5832345	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:5832343_5832344C>CG	uc002mdf.1	-	3	761_762	c.235_236G>CG	c.(235-237)cgcfs	p.R79fs	FUT6_uc021unl.1_Frame_Shift_Ins_p.R79fs|FUT6_uc002mdg.1_Frame_Shift_Ins_p.R79fs|FUT6_uc002mdh.1_Frame_Shift_Ins_p.R79fs|FUT6_uc021unm.1_Frame_Shift_Ins_p.R79fs	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	79					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CTCTGAGCAGCGGGGCAGAGCT	0.619												
DENND1C	79958	broad.mit.edu	37	19	6468936	6468937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:6468935_6468936G>GC	uc002mfe.3	-	19	1528_1529	c.1436_1437C>GC	c.(1435-1437)ggcfs	p.G479fs	DENND1C_uc002mfb.3_Frame_Shift_Ins_p.G29fs|DENND1C_uc002mfc.3_Frame_Shift_Ins_p.G29fs|DENND1C_uc002mfd.3_Frame_Shift_Ins_p.G29fs|DENND1C_uc010xje.2_Frame_Shift_Ins_p.G435fs	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	479						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCCTCAGAGAGCCCCCCCTCTG	0.624												
TRIP10	9322	broad.mit.edu	37	19	6750380	6750381	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:6750379_6750380A>AC	uc002mfs.3	+	12	1538_1539	c.1472_1473A>AC	c.(1471-1473)gacfs	p.D491fs	TRIP10_uc010dux.2_Frame_Shift_Ins_p.D435fs|TRIP10_uc002mfr.3_Frame_Shift_Ins_p.D435fs|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	491	Interaction with CDC42.|Interaction with DNM2 and WASL (By similarity).|Interaction with PDE6G (By similarity).|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729).	actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CGGCCTCCCGACCCCCCCGCTA	0.658												
ZNF490	57474	broad.mit.edu	37	19	12691725	12691726	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:12691724_12691725G>GT	uc002mtz.2	-	4	1293_1294	c.1164_1165C>AC	c.(1162-1167)aaacccfs	p.K388fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P389P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATTCATAGGGTTTTTCTCCAA	0.406												
TSHZ3	57616	broad.mit.edu	37	19	31769062	31769063	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:31769061_31769062G>GC	uc002nsy.4	-	1	1702_1703	c.1637_1638C>GC	c.(1636-1638)ggcfs	p.G546fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559												
KIRREL2	84063	broad.mit.edu	37	19	36357214	36357214	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:36357213_36357213TC>T	uc002ocb.4	+	14	2158	c.1946_1946TC>T	c.(1945-1947)gtcfs	p.V649fs	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Frame_Shift_Del_p.V611fs|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	649	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGGCATGGTCCCCCCCTGC	0.627												
ZNF790	388536	broad.mit.edu	37	19	37310238	37310238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:37310237_37310237GT>G	uc021utk.1	-	4	1438	c.1009_1009AC>C	c.(1009-1011)cctfs	p.P337fs	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Frame_Shift_Del_p.P337fs|ZNF790_uc021utl.1_Frame_Shift_Del_p.P337fs|ZNF790_uc021utm.1_Frame_Shift_Del_p.P337fs	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P337L(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTCATAAGGTTTTTCACCA	0.383												
ZNF829	374899	broad.mit.edu	37	19	37382841	37382841	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:37382840_37382840GA>G	uc021utr.1	-	5	1163	c.1096_1096TC>C	c.(1096-1098)ctafs	p.L366fs	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Frame_Shift_Del_p.L285fs	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E366K(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCAGATGTAGAAAAAGTTGT	0.363												
CIC	23152	broad.mit.edu	37	19	42796883	42796884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:42796882_42796883G>GC	uc002otf.1	+	13	3380_3381	c.3340_3341G>GC	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"""Mis, F, S"""		oligodendroglioma							
DMPK	1760	broad.mit.edu	37	19	46274622	46274628	+	Frame_Shift_Del	DEL	CCGTGGC	CCGTGGC	-	rs146680240	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:46274621_46274627TCCGTGGC>T	uc002pdi.1	-	13	1892_1898	c.1706_1712GCCACGGA>A	c.(1705-1713)gccacggatfs	p.A569fs	SIX5_uc002pdb.3_5'Flank|DMPK_uc021uwb.1_Intron|DMPK_uc010xxs.1_Frame_Shift_Del_p.A454fs|DMPK_uc002pdd.1_Frame_Shift_Del_p.A553fs|DMPK_uc002pde.1_Frame_Shift_Del_p.A548fs|DMPK_uc002pdg.1_Frame_Shift_Del_p.A538fs|DMPK_uc002pdf.1_Frame_Shift_Del_p.A543fs|DMPK_uc002pdh.1_Frame_Shift_Del_p.A538fs|DMPK_uc010xxt.1_Intron	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	553					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T544M(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GGAAGGTGGATCCGTGGCCCGGGGACT	0.657												
MED25	81857	broad.mit.edu	37	19	50333995	50333996	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50333994_50333995T>TC	uc002ppw.2	+	8	1014_1015	c.951_952T>TC	c.(949-954)ggtcccfs	p.G317fs	MED25_uc010ybe.2_Frame_Shift_Ins_p.G104fs|MED25_uc002ppx.1_Frame_Shift_Ins_p.G98fs	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	317	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CCGGAGTGGGTCCCCCCTTCAG	0.658												
PTOV1	53635	broad.mit.edu	37	19	50363527	50363528	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:50363526_50363527T>TG	uc002pqf.1	+	11	1411_1412	c.1241_1242T>TG	c.(1240-1242)atgfs	p.M414fs	PTOV1_uc002pqb.4_Frame_Shift_Ins_p.W359fs|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCGCCGTAGATGGGGGGGTAGT	0.658												
LIM2	3982	broad.mit.edu	37	19	51890512	51890512	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:51890511_51890511CG>C	uc002pwl.2	-	1	231	c.187_187CG>G	c.(187-189)ggcfs	p.G63fs	LIM2_uc002pwm.2_Intron	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.P62H(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGACCCTGGCCGGGGGGCTCA	0.652												
LENG1	79165	broad.mit.edu	37	19	54660654	54660655	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:54660653_54660654C>CG	uc002qdm.3	-	2	435_436	c.422_423G>CG	c.(421-423)ccgfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	141										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCCC	0.639												
PEG3	5178	broad.mit.edu	37	19	57328919	57328919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57328918_57328918AT>A	uc002qnu.2	-	6	1243	c.892_892AT>T	c.(892-894)tcafs	p.S298fs	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Frame_Shift_Del_p.S269fs|PEG3_uc002qnv.2_Frame_Shift_Del_p.S298fs|PEG3_uc002qnw.2_Frame_Shift_Del_p.S174fs|PEG3_uc002qnx.2_Frame_Shift_Del_p.S172fs|PEG3_uc010etr.2_Frame_Shift_Del_p.S298fs	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	298					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGGTGGGTTGATTTTTTGGCT	0.468												
USP29	57663	broad.mit.edu	37	19	57640239	57640240	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr19:57640238_57640239T>TA	uc002qny.3	+	3	551_552	c.195_196T>TA	c.(193-198)tgtaaafs	p.C65fs	USP29_uc021vci.1_Frame_Shift_Ins_p.C65fs	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	65					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.R68fs*7(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGACATTGTAAAAAAAGACA	0.327												
FASTKD5	60493	broad.mit.edu	37	20	3127717	3127718	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:3127716_3127717G>GC	uc021vzx.1	-	0	2000_2001	c.2000_2001C>GC	c.(1999-2001)ggcfs	p.G667fs	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Frame_Shift_Ins_p.G667fs	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	667					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TGCAAAGGAAGCCCCCCAGAGG	0.550												
ZNF337	26152	broad.mit.edu	37	20	25657324	25657325	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:25657323_25657324C>CT	uc002wva.3	-	3	1122_1123	c.600_601G>AG	c.(598-603)aaagcafs	p.K200fs	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Ins_p.K168fs|ZNF337_uc002wvc.3_Frame_Shift_Ins_p.K200fs	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGAATGTGCTTTTTTGTGTA	0.446												
ASIP	434	broad.mit.edu	37	20	32856834	32856834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:32856833_32856833AC>A	uc002xah.1	+	2	269	c.259_259AC>A	c.(259-261)accfs	p.T87fs		NM_001672	NP_001663	P42127	ASIP_HUMAN	Homo sapiens agouti signaling protein (ASIP), mRNA.	87					cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						GCGGCCCCGGACCCCCCTATC	0.701												
RALGAPB	57148	broad.mit.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACA	0.443												
PMEPA1	56937	broad.mit.edu	37	20	56227349	56227349	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr20:56227348_56227348TG>T	uc002xyq.3	-	3	1018	c.625_625CA>A	c.(625-627)agcfs	p.S209fs	PMEPA1_uc002xyr.3_Frame_Shift_Del_p.S159fs|PMEPA1_uc002xys.3_Frame_Shift_Del_p.S174fs|PMEPA1_uc002xyt.3_Frame_Shift_Del_p.S159fs	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	209					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAG	0.687												
SYNJ1	8867	broad.mit.edu	37	21	34029062	34029062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:34029061_34029061CA>C	uc002yqh.2	-	20	2848	c.2848_2848TG>G	c.(2848-2850)gatfs	p.D950fs	SYNJ1_uc011ads.1_Frame_Shift_Del_p.D906fs|SYNJ1_uc002yqf.2_Frame_Shift_Del_p.D911fs|SYNJ1_uc002yqg.2_Frame_Shift_Del_p.D906fs|SYNJ1_uc002yqi.2_Frame_Shift_Del_p.D950fs	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	911	Pro-rich.|RRM.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGGCATCATCAAAAAAATTA	0.343												
TFF3	7033	broad.mit.edu	37	21	43733677	43733678	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:43733676_43733677T>TG	uc002zav.3	-	1	369_370	c.189_190A>CA	c.(187-192)cccaagfs	p.P63fs		NM_003226	NP_003217	Q07654	TFF3_HUMAN	Homo sapiens trefoil factor 3 (intestinal) (TFF3), mRNA.	49	P-type.				defense response|digestion	apical lamina of hyaline layer		p.L63L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTGCACTCCTTGGGGGTGACAT	0.624												
MCM3AP	8888	broad.mit.edu	37	21	47663397	47663398	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47663396_47663397C>CG	uc002zir.1	-	23	5314_5315	c.5278_5279G>CG	c.(5278-5280)cggfs	p.R1760fs	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Frame_Shift_Ins_p.R255fs|MCM3AP_uc002zip.1_Frame_Shift_Ins_p.R501fs|MCM3AP_uc002ziq.1_Frame_Shift_Ins_p.R687fs|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.P1759P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525												
PCNT	5116	broad.mit.edu	37	21	47831673	47831674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr21:47831672_47831673G>GT	uc002zji.4	+	27	5792_5793	c.5685_5686G>GT	c.(5683-5688)ctgttgfs	p.L1895fs	PCNT_uc002zjj.3_Frame_Shift_Ins_p.L1777fs	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1895					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGCCGTCCTGTTGGCCTTGGC	0.678												
DDT	1652	broad.mit.edu	37	22	24313795	24313795	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:24313794_24313794GA>G	uc002zyz.4	-	2	380	c.303_303TC>C	c.(301-303)ttcfs	p.F101fs	DDT_uc011ajf.2_Intron|DDTL_uc002zyy.4_3'UTR|DDT_uc002zza.4_Frame_Shift_Del_p.F101fs	NM_001084392	NP_001346	P30046	DOPD_HUMAN	Homo sapiens D-dopachrome tautomerase (DDT), transcript variant 2, mRNA.	101					melanin biosynthetic process	cytoplasm	D-dopachrome decarboxylase activity|dopachrome isomerase activity|protein binding										ACTCCAAGGGGAAAAAGCGGA	0.498												
TIMP3	7078	broad.mit.edu	37	22	33255324	33255325	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:33255323_33255324G>GC	uc003anb.3	+	4	1781_1782	c.595_596G>GC	c.(595-597)gccfs	p.A199fs	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	199					negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604												
HMGXB4	10042	broad.mit.edu	37	22	35659156	35659156	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:35659155_35659155AT>A	uc003anl.3	+	2	290	c.116_116AT>A	c.(115-117)gatfs	p.D39fs	HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.3_5'UTR	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	39					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTACAAAGATTTTTTAAGG	0.388												
TCF20	6942	broad.mit.edu	37	22	42606575	42606576	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:42606574_42606575G>GT	uc003bcj.1	-	0	4871_4872	c.4737_4738C>AC	c.(4735-4740)aaacagfs	p.K1579fs	TCF20_uc003bck.1_Frame_Shift_Ins_p.K1579fs	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.Q1580fs*32(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTGCCTCTGTTTTTTTGGCT	0.535												
MAPK12	6300	broad.mit.edu	37	22	50696733	50696734	+	Splice_Site	INS	-	-	G			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50696732_50696733T>TG	uc003bkm.1	-	3	407	c.256_splice	c.e3-1	p.V86_splice	MAPK12_uc003bko.2_Splice_Site_p.V6_splice|MAPK12_uc003bkl.1_Splice_Site_p.V86_splice|MAPK12_uc003bkq.2_Splice_Site|MAPK12_uc010haw.3_Splice_Site_p.V86_splice	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	86	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding	p.?(4)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGATCACCTGGGGGGGCCAC	0.639												
PLXNB2	23654	broad.mit.edu	37	22	50721830	50721831	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50721829_50721830A>AC	uc003bkv.4	-	15	2708_2709	c.2615_2616T>GT	c.(2614-2616)ggtfs	p.G872fs	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	872	IPT/TIG 1.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTCGACACCCCCCGTGAA	0.663												
SBF1	6305	broad.mit.edu	37	22	50898756	50898756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chr22:50898755_50898755TG>T	uc003blh.3	-	24	3424	c.3229_3229CA>A	c.(3229-3231)agcfs	p.S1077fs	SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1077					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCCCAGCTGGGGGGGTTG	0.647												
SMPX	23676	broad.mit.edu	37	X	21772423	21772423	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:21772422_21772422TA>T	uc004daa.3	-	2	220	c.-11_splice	c.e2-1		SMPX_uc022btv.1_Splice_Site	NM_014332	NP_055147	Q9UHP9	SMPX_HUMAN	Homo sapiens small muscle protein, X-linked (SMPX), transcript variant 1, mRNA.						striated muscle contraction					breast(1)|endometrium(1)	2						GTCTTATCCCTAAAAAAACAA	0.408												
FAM47A	158724	broad.mit.edu	37	X	34150246	34150246	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:34150245_34150245CA>C	uc004ddg.3	-	0	203	c.151_151TG>G	c.(151-153)gtgfs	p.V51fs		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	51										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCTCCTTCACAAATACCCAG	0.547												
BCOR	54880	broad.mit.edu	37	X	39933400	39933400	+	Frame_Shift_Del	DEL	C	C	-	rs139834626		TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:39933399_39933399GC>G	uc004den.4	-	3	1492	c.1200_1200GC>C	c.(1198-1200)ggcfs	p.G400fs	BCOR_uc004dep.4_Frame_Shift_Del_p.G400fs|BCOR_uc004deo.4_Frame_Shift_Del_p.G400fs|BCOR_uc004dem.4_Frame_Shift_Del_p.G400fs|BCOR_uc004deq.4_Frame_Shift_Del_p.G400fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	400					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.G400fs*42(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGCACCTTCGCCCCCTTCCG	0.592			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
HUWE1	10075	broad.mit.edu	37	X	53576031	53576032	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:53576030_53576031G>GC	uc004dsp.3	-	66	10326_10327	c.9924_9925C>GC	c.(9922-9927)gggcgtfs	p.G3308fs	HUWE1_uc004dsn.3_Frame_Shift_Ins_p.G2116fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3308					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.R3309C(1)|p.R3199C(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTATGTTTACGCCCCCCTGAAC	0.525												
KLF8	11279	broad.mit.edu	37	X	56292162	56292162	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:56292161_56292161TA>T	uc004dur.3	+	2	1576	c.630_630TA>T	c.(628-630)ggtfs	p.G210fs	KLF8_uc010nkg.2_Frame_Shift_Del_p.G205fs|KLF8_uc011mop.2_Frame_Shift_Del_p.G210fs|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GAGGAGATGGTAAAAATGCTG	0.478												
ATRX	546	broad.mit.edu	37	X	76829816	76829817	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:76829815_76829816T>TC	uc004ecp.4	-	27	6457_6458	c.6225_6226A>GA	c.(6223-6228)gggaagfs	p.G2075fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.G2037fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.G1860fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2075	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CGAAGCCACTTCCCCTCACCTG	0.376			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
PASD1	139135	broad.mit.edu	37	X	150841027	150841028	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:150841026_150841027A>AT	uc004fev.4	+	13	2141_2142	c.1809_1810A>AT	c.(1807-1812)agatttfs	p.R603fs		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	603						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTGTTAGATTTTTACAGGC	0.500												
F8	2157	broad.mit.edu	37	X	154158195	154158196	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GT-01A-21D-A25D-08	TCGA-HU-A4GT-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	445875af-7a67-4041-bc25-07e0b5dfb66d	50fad79c-0ab5-41b5-b176-923b06f78c47	g.chrX:154158194_154158195C>CT	uc004fmt.3	-	13	4041_4042	c.3870_3871G>AG	c.(3868-3873)aaagggfs	p.K1290fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1290	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTCCTCCCCTTTTTTTGAGA	0.381												
