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
ATAD3A	55210	broad.mit.edu	37	1	1454368	1454368	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:1454368G>A	uc001afz.1	+	5	750	c.656G>A	c.(655-657)CGA>CAA	p.R219Q	ATAD3A_uc001aga.1_Missense_Mutation_p.R171Q|ATAD3A_uc001agb.1_Missense_Mutation_p.R92Q	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	219	Potential.						ATP binding|nucleoside-triphosphatase activity|protein binding			skin(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GCCATGCGGCGAGGTAGGCTG	0.607000												
NADK	65220	broad.mit.edu	37	1	1688041	1688041	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:1688041T>C	uc009vkw.2	-	5	521	c.400A>G	c.(400-402)ATG>GTG	p.M134V	NADK_uc001aic.2_Missense_Mutation_p.M134V|NADK_uc001aid.3_Missense_Mutation_p.M134V|NADK_uc001aie.2_Missense_Mutation_p.M279V|NADK_uc010nyv.1_Missense_Mutation_p.M102V|NADK_uc009vkx.1_Missense_Mutation_p.M12V	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	134					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TACACGATCATGTTCTCCTGG	0.542000												
CHD5	26038	broad.mit.edu	37	1	6181285	6181285	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:6181285C>T	uc001amb.1	-	33	4892	c.4792G>A	c.(4792-4794)GCC>ACC	p.A1598T	CHD5_uc001alz.1_Missense_Mutation_p.A455T|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1598					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTATCCAAGGCGGCTGGAAGG	0.657000												
CHD5	26038	broad.mit.edu	37	1	6206467	6206467	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:6206467G>A	uc001amb.1	-	11	1707	c.1607C>T	c.(1606-1608)ACG>ATG	p.T536M	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	536	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATACATCACCGTGTGGTACAG	0.577000												
SLC2A5	6518	broad.mit.edu	37	1	9098963	9098963	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:9098963C>T	uc001apo.2	-	9	1314	c.1022G>A	c.(1021-1023)CGG>CAG	p.R341Q	SLC2A5_uc010nzy.1_Missense_Mutation_p.R282Q|SLC2A5_uc010nzz.1_Missense_Mutation_p.R226Q|SLC2A5_uc010oaa.1_Missense_Mutation_p.R297Q|SLC2A5_uc010oab.1_Missense_Mutation_p.R341Q	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	341	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGCCTCCGACCCAGGAG	0.667000												
CASZ1	54897	broad.mit.edu	37	1	10699614	10699614	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:10699614G>A	uc001aro.2	-	21	4985	c.4665C>T	c.(4663-4665)GCC>GCT	p.A1555A		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGCGCAGTCGGCGCTGGAGC	0.657000												
CASZ1	54897	broad.mit.edu	37	1	10725588	10725588	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:10725588G>A	uc001aro.2	-	5	377	c.57C>T	c.(55-57)CCC>CCT	p.P19P	CASZ1_uc001arp.1_Silent_p.P19P|CASZ1_uc009vmx.2_Silent_p.P43P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCGCCATGGCGGGCTTGCCTG	0.672000												
EPHA2	1969	broad.mit.edu	37	1	16458317	16458317	+	Missense_Mutation	SNP	G	G	A	rs55869078	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:16458317G>A	uc001aya.1	-	14	2511	c.2374C>T	c.(2374-2376)CGG>TGG	p.R792W		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	792	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTGAACTTCCGGTAGGAAATG	0.637000												
KLHDC7A	127707	broad.mit.edu	37	1	18809240	18809240	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:18809240G>A	uc001bax.2	+	1	1817	c.1765G>A	c.(1765-1767)GGG>AGG	p.G589R	KLHDC7A_uc009vpg.2_Missense_Mutation_p.G371R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	589	Kelch 3.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCCTGGACGGGCACCTGTA	0.692000												
HSPG2	3339	broad.mit.edu	37	1	22174580	22174580	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:22174580C>T	uc001bfj.2	-	60	7784	c.7744G>A	c.(7744-7746)GGC>AGC	p.G2582S	HSPG2_uc009vqd.2_Missense_Mutation_p.G2583S	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2582	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGCCGGGAGCCCACGATCTGC	0.652000												
EPHB2	2048	broad.mit.edu	37	1	23111249	23111249	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:23111249G>A	uc009vqj.1	+	3	636	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	EPHB2_uc001bge.2_Missense_Mutation_p.R164Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R164Q|EPHB2_uc010odu.1_Missense_Mutation_p.R164Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	164	Extracellular (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCGAGGTGCGGAGCTTCGGA	0.602000									Hereditary_Prostate_Cancer			
ARID1A	8289	broad.mit.edu	37	1	27100207	27100207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:27100207C>T	uc001bmv.1	+	16	4376	c.4003C>T	c.(4003-4005)CGA>TGA	p.R1335*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R1334*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1335*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R952*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R181*|ARID1A_uc009vsm.1_Translation_Start_Site|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1335	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1334_R1335insQ(1)		ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcaACGGTGAGTAAA	0.498000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SYTL1	84958	broad.mit.edu	37	1	27677388	27677388	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:27677388C>T	uc001bnw.1	+	11	1276	c.1109C>T	c.(1108-1110)CCC>CTC	p.P370L	SYTL1_uc001bnv.1_Missense_Mutation_p.P358L|SYTL1_uc009vsu.1_Intron|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.1_Missense_Mutation_p.P370L	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	370					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			ovary(1)	1		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTTGAAGTGCCCCTGGACACG	0.701000												
MAP3K6	9064	broad.mit.edu	37	1	27691373	27691373	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:27691373A>G	uc001bny.1	-	2	620	c.371T>C	c.(370-372)CTG>CCG	p.L124P	MAP3K6_uc009vsw.1_Missense_Mutation_p.L124P	NM_004672	NP_004663	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase	124					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCTGTACCAGCGAGCTGCT	0.627000												
PTPRU	10076	broad.mit.edu	37	1	29641884	29641884	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:29641884C>T	uc001bru.2	+	24	3368	c.3258C>T	c.(3256-3258)AGC>AGT	p.S1086S	PTPRU_uc001brv.2_Silent_p.S1082S|PTPRU_uc001brw.2_Silent_p.S1076S|PTPRU_uc009vtq.2_Silent_p.S1082S|PTPRU_uc009vtr.2_Silent_p.S1073S	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1086	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTCTCTCCAGCGCGGGCACCG	0.582000												
COL16A1	1307	broad.mit.edu	37	1	32127954	32127954	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:32127954T>C	uc001btk.1	-	58	4027	c.3662A>G	c.(3661-3663)GAC>GGC	p.D1221G	COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Missense_Mutation_p.D1019G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1221	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGCTTGCCGTCCTTCCCATC	0.617000												
TMEM39B	55116	broad.mit.edu	37	1	32557559	32557559	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:32557559A>G	uc010ogv.1	+	6	1020	c.874A>G	c.(874-876)AGC>GGC	p.S292G	TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Missense_Mutation_p.S165G|TMEM39B_uc001bue.3_Missense_Mutation_p.S293G|TMEM39B_uc001buf.3_Missense_Mutation_p.S93G|TMEM39B_uc010ogw.1_Missense_Mutation_p.S93G	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	292	Helical; (Potential).					integral to membrane					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGTGCTCGTCAGCTCCATGCT	0.577000												
LCK	3932	broad.mit.edu	37	1	32740365	32740365	+	Missense_Mutation	SNP	C	C	T	rs139649211		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:32740365C>T	uc001bux.2	+	3	271	c.133C>T	c.(133-135)CGG>TGG	p.R45W	LCK_uc001buy.2_Missense_Mutation_p.R45W|LCK_uc001buz.2_Missense_Mutation_p.R45W|LCK_uc010ohc.1_Missense_Mutation_p.R89W|LCK_uc001bva.2_Missense_Mutation_p.R45W	NM_005356	NP_005347	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	45	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			lung(3)|central_nervous_system(2)|ovary(1)	6		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTCTGAGGTGCGGGACCCACT	0.632000			T	TRB@	T-ALL							
RBBP4	5928	broad.mit.edu	37	1	33134370	33134370	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:33134370G>A	uc001bvr.2	+	5	674	c.515G>A	c.(514-516)CGT>CAT	p.R172H	RBBP4_uc001bvs.2_Missense_Mutation_p.R171H|RBBP4_uc010ohj.1_5'UTR|RBBP4_uc010ohk.1_Missense_Mutation_p.R137H	NM_005610	NP_005601	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4 isoform a	172					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCAGACTTGCGTCTCCGTGGA	0.502000												
ZSCAN20	7579	broad.mit.edu	37	1	33959045	33959045	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:33959045T>C	uc001bxj.3	+	7	1870	c.1703T>C	c.(1702-1704)CTG>CCG	p.L568P	ZSCAN20_uc009vui.2_Missense_Mutation_p.L567P	NM_145238	NP_660281	P17040	ZSC20_HUMAN	zinc finger protein 31	568					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)				CTGGACTCGCTGATGAGGGCT	0.587000												
TRIT1	54802	broad.mit.edu	37	1	40309782	40309782	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:40309782C>T	uc010oiz.1	-	10	1239	c.1225G>A	c.(1225-1227)GAA>AAA	p.E409K	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.E105K|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.E163K|TRIT1_uc001ceh.3_Missense_Mutation_p.E163K|TRIT1_uc009vvv.2_Missense_Mutation_p.E242K|TRIT1_uc001cei.3_Missense_Mutation_p.E163K|TRIT1_uc001ceq.2_Missense_Mutation_p.E105K|TRIT1_uc001cek.2_Missense_Mutation_p.E105K|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.E327K|TRIT1_uc001cen.2_Missense_Mutation_p.E163K|TRIT1_uc001ceo.2_Missense_Mutation_p.E163K|TRIT1_uc001cep.2_Missense_Mutation_p.E163K	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	409	Matrin-type.				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCTGCCCATTCGCGATCCCCA	0.453000												
KDM4A	9682	broad.mit.edu	37	1	44131409	44131409	+	Silent	SNP	C	C	T	rs139088184		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:44131409C>T	uc001cjx.2	+	6	832	c.666C>T	c.(664-666)CTC>CTT	p.L222L	KDM4A_uc010oki.1_Silent_p.L222L	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	222	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						TGGAACGCCTCGCCAAAGGTA	0.527000												
RNF220	55182	broad.mit.edu	37	1	44877843	44877843	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:44877843T>G	uc001clv.1	+	2	434	c.74T>G	c.(73-75)CTG>CGG	p.L25R	RNF220_uc001clw.1_Missense_Mutation_p.L25R	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	25					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2						TCCCCAGCACTGATGGTCCTG	0.577000												
CYP4B1	1580	broad.mit.edu	37	1	47280920	47280920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:47280920C>T	uc001cqm.3	+	8	1138	c.1054C>T	c.(1054-1056)CAG>TAG	p.Q352*	CYP4B1_uc009vyl.1_Nonsense_Mutation_p.Q189*|CYP4B1_uc001cqn.3_Nonsense_Mutation_p.Q353*|CYP4B1_uc009vym.2_Nonsense_Mutation_p.Q338*|CYP4B1_uc010omk.1_Nonsense_Mutation_p.Q189*	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	352					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)					CCTAGGGGACCAGGACTTCTT	0.582000												
CYP4X1	260293	broad.mit.edu	37	1	47512174	47512174	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:47512174G>A	uc001cqt.2	+	9	1359	c.1109G>A	c.(1108-1110)TGC>TAC	p.C370Y	CYP4X1_uc001cqr.2_Missense_Mutation_p.C369Y|CYP4X1_uc001cqs.2_Missense_Mutation_p.C305Y	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X,	370						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2						ACCACAATGTGCATCAAGGAG	0.498000												
C1orf163	65260	broad.mit.edu	37	1	53153414	53153414	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:53153414A>G	uc001cui.1	-	3	714	c.674T>C	c.(673-675)GTC>GCC	p.V225A		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	hypothetical protein LOC65260	225							binding				0						TAAGGGTTGGACACCTTTCTG	0.527000												
IL12RB2	3595	broad.mit.edu	37	1	67833651	67833651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:67833651C>T	uc001ddu.2	+	10	2042	c.1402C>T	c.(1402-1404)CAG>TAG	p.Q468*	IL12RB2_uc010oqi.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqj.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqm.1_Nonsense_Mutation_p.Q468*|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	468	Fibronectin type-III 4.|Extracellular (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3						GGGTGACACACAGGTCCCTCT	0.512000												
DEPDC1	55635	broad.mit.edu	37	1	68948473	68948473	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:68948473T>C	uc001dem.3	-	8	1135	c.1018A>G	c.(1018-1020)AAA>GAA	p.K340E	DEPDC1_uc001dej.3_5'Flank|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	340					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCAGTTGATTTGAAGGAATTC	0.358000												
MSH4	4438	broad.mit.edu	37	1	76344799	76344799	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:76344799T>C	uc001dhd.1	+	12	1704	c.1663T>C	c.(1663-1665)TCA>CCA	p.S555P		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	555					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						TCAACTTCCTTCAGAATTTAT	0.328000								MMR				
PRKACB	5567	broad.mit.edu	37	1	84649798	84649798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:84649798C>T	uc001djj.2	+	4	580	c.316C>T	c.(316-318)CGA>TGA	p.R106*	PRKACB_uc001djl.2_Nonsense_Mutation_p.R153*|PRKACB_uc010ort.1_Nonsense_Mutation_p.R113*|PRKACB_uc001djn.2_Nonsense_Mutation_p.R110*|PRKACB_uc010oru.1_Nonsense_Mutation_p.R94*|PRKACB_uc001djp.2_Nonsense_Mutation_p.R112*|PRKACB_uc001djq.2_Intron|PRKACB_uc010orv.1_Nonsense_Mutation_p.R93*|PRKACB_uc001dji.2_Nonsense_Mutation_p.R106*|PRKACB_uc001djk.2_Nonsense_Mutation_p.R153*|PRKACB_uc009wcf.1_Nonsense_Mutation_p.R112*	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	106	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TTTCCTTGTTCGACTGGAGTA	0.274000												
CCDC18	343099	broad.mit.edu	37	1	93667456	93667456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:93667456C>T	uc001dpq.2	+	7	1228	c.1060C>T	c.(1060-1062)CGA>TGA	p.R354*		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	236	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TAGAGCTGAACGACAAAGGAA	0.308000												
PTBP2	58155	broad.mit.edu	37	1	97272007	97272007	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:97272007C>T	uc001drq.2	+	10	1323	c.1077C>T	c.(1075-1077)TTC>TTT	p.F359F	PTBP2_uc001drn.2_Silent_p.F364F|PTBP2_uc001dro.2_Silent_p.F359F|PTBP2_uc010otz.1_Silent_p.F375F|PTBP2_uc001drp.2_Intron|PTBP2_uc009wdw.2_Silent_p.F307F|PTBP2_uc001drr.2_Silent_p.F364F|PTBP2_uc010oua.1_Silent_p.F367F|PTBP2_uc001dru.2_Intron|PTBP2_uc001drs.1_Intron|PTBP2_uc001drt.2_Intron	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	359	RRM 3.						nucleotide binding				0		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TTACCCTCTTCGGTATGTTAT	0.378000												
DBT	1629	broad.mit.edu	37	1	100672100	100672100	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:100672100G>A	uc001dta.2	-	9	1143	c.1110C>T	c.(1108-1110)ATC>ATT	p.I370I	DBT_uc010oug.1_Silent_p.I189I	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	370					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		GTTCAGTGGCGATGTCAAATA	0.428000												
VCAM1	7412	broad.mit.edu	37	1	101197054	101197054	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:101197054C>T	uc001dti.2	+	6	1625	c.1505C>T	c.(1504-1506)ACG>ATG	p.T502M	VCAM1_uc001dtj.2_Missense_Mutation_p.T410M|VCAM1_uc010ouj.1_Missense_Mutation_p.T440M	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	502	Ig-like C2-type 5.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGGCAGAGTACGCAAACACTT	0.378000												
COL11A1	1301	broad.mit.edu	37	1	103354303	103354303	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:103354303G>A	uc001dul.2	-	61	4848	c.4530C>T	c.(4528-4530)GGC>GGT	p.G1510G	COL11A1_uc001duk.2_Silent_p.G706G|COL11A1_uc001dum.2_Silent_p.G1522G|COL11A1_uc001dun.2_Silent_p.G1471G|COL11A1_uc009weh.2_Silent_p.G1394G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1510	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCCTTTGGGCCTTGAGGAC	0.348000												
SARS	6301	broad.mit.edu	37	1	109756660	109756660	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:109756660C>A	uc001dwu.1	+	1	121	c.46C>A	c.(46-48)CCA>ACA	p.P16T	SARS_uc001dwt.1_Missense_Mutation_p.P16T|SARS_uc001dwv.1_Missense_Mutation_p.P16T|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.P16T|SARS_uc009wfa.1_Missense_Mutation_p.P16T|SARS_uc001dwy.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	16					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)	AGGAGGGGACCCAGCCCTCAT	0.597000												
FAM40A	85369	broad.mit.edu	37	1	110582098	110582098	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:110582098C>T	uc001dza.1	+	5	561	c.542C>T	c.(541-543)ACG>ATG	p.T181M	FAM40A_uc001dyz.1_Missense_Mutation_p.T86M|FAM40A_uc009wfp.1_Translation_Start_Site	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	hypothetical protein LOC85369	181						nucleus	protein binding			ovary(3)|large_intestine(1)	4		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GAGGTGGGCACGTTCAATGCT	0.557000												
WDR3	10885	broad.mit.edu	37	1	118488721	118488721	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:118488721G>C	uc010oxe.1	+	12	1407	c.1341G>C	c.(1339-1341)CAG>CAC	p.Q447H	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	447	WD 7.					nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CTACACTGCAGTGTATTCGCA	0.383000												
HSD3B2	3284	broad.mit.edu	37	1	119962129	119962129	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:119962129C>T	uc001ehs.2	+	2	1004	c.231C>T	c.(229-231)GTC>GTT	p.V77V	HSD3B2_uc001eht.2_Silent_p.V77V|HSD3B2_uc001ehu.2_Silent_p.V77V	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	77					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACGTCTCGGTCGTCATCCACA	0.498000												
ZNF697	90874	broad.mit.edu	37	1	120165559	120165559	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:120165559C>T	uc001ehy.1	-	3	1521	c.1407G>A	c.(1405-1407)CAG>CAA	p.Q469Q		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	469	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GCTTCTCGCACTGGCCACAGC	0.652000												
PDE4DIP	9659	broad.mit.edu	37	1	144857705	144857705	+	Missense_Mutation	SNP	G	G	A	rs146619065	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:144857705G>A	uc001elw.3	-	39	6640	c.6349C>T	c.(6349-6351)CGG>TGG	p.R2117W	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R2011W|PDE4DIP_uc001elv.3_Missense_Mutation_p.R1124W	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2117					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCAACATCCCGGACTGGAGGG	0.517000			T	PDGFRB	MPD							
PDE4DIP	9659	broad.mit.edu	37	1	144859846	144859846	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:144859846C>T	uc001elw.3	-	38	6529	c.6238G>A	c.(6238-6240)GCT>ACT	p.A2080T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A1974T|PDE4DIP_uc001elv.3_Missense_Mutation_p.A1087T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	2080					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTTGCCAGCACCGCTCTCC	0.582000			T	PDGFRB	MPD							
PDE4DIP	9659	broad.mit.edu	37	1	144879338	144879338	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:144879338A>G	uc001elw.3	-	27	4403	c.4112T>C	c.(4111-4113)GTC>GCC	p.V1371A	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.V1327A|PDE4DIP_uc001elv.3_Missense_Mutation_p.V378A	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1371	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTTGAATGACCTTGTTGGC	0.488000			T	PDGFRB	MPD							
PDE4DIP	9659	broad.mit.edu	37	1	145075648	145075648	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:145075648G>A	uc001emh.2	-	1	432	c.215C>T	c.(214-216)GCG>GTG	p.A72V	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.A72V|PDE4DIP_uc001emk.2_Missense_Mutation_p.A72V	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGGTGTGGCCGCCGCAGCTGC	0.721000			T	PDGFRB	MPD							
CHD1L	9557	broad.mit.edu	37	1	146751709	146751709	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:146751709T>C	uc001epm.3	+	15	1613	c.1550T>C	c.(1549-1551)ATA>ACA	p.I517T	uc001epp.2_Intron|CHD1L_uc001epn.3_Missense_Mutation_p.I404T|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Missense_Mutation_p.I423T|CHD1L_uc010ozp.1_Missense_Mutation_p.I236T|CHD1L_uc001epo.3_Missense_Mutation_p.I313T|CHD1L_uc010ozq.1_Missense_Mutation_p.I90T|CHD1L_uc009wji.2_Missense_Mutation_p.I236T	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein	517					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.0487)					TTGAGTGAGATACTCAAATTT	0.418000												
ZNF687	57592	broad.mit.edu	37	1	151262928	151262928	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:151262928G>A	uc001exq.2	+	8	3196	c.3098G>A	c.(3097-3099)CGC>CAC	p.R1033H	ZNF687_uc009wmo.2_Missense_Mutation_p.R1033H|ZNF687_uc009wmp.2_Silent_p.T1053T	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGGGAAAACGCACCTTCAGC	0.647000												
RFX5	5993	broad.mit.edu	37	1	151318748	151318748	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:151318748C>G	uc001exv.1	-	3	263	c.49G>C	c.(49-51)GCC>CCC	p.A17P	RFX5_uc001exw.1_Missense_Mutation_p.A17P|RFX5_uc009wmr.1_Missense_Mutation_p.A17P|RFX5_uc010pcx.1_Missense_Mutation_p.A17P	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	regulatory factor X, 5	17						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)			CCTGGGGGGGCCCTTCCCCCA	0.552000												
CGN	57530	broad.mit.edu	37	1	151491681	151491681	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:151491681G>A	uc009wmw.2	+	2	830	c.686G>A	c.(685-687)CGC>CAC	p.R229H		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	223	Interacts with ZO-2.|Head.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAACGGGAGCGCCAGTCCACC	0.612000												
LCE1D	353134	broad.mit.edu	37	1	152770577	152770577	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:152770577G>A	uc009wnp.2	+	2	350	c.307G>A	c.(307-309)GGT>AGT	p.G103S		NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	103	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm					0	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCTGCGGTGGGGGCAG	0.632000												
GBA	2629	broad.mit.edu	37	1	155205593	155205593	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:155205593C>A	uc001fjh.2	-	9	1417	c.1267G>T	c.(1267-1269)GCC>TCC	p.A423S	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.A310S|GBA_uc010pfx.1_Missense_Mutation_p.A374S|GBA_uc001fji.2_Missense_Mutation_p.A423S|GBA_uc001fjj.2_Missense_Mutation_p.A423S|GBA_uc001fjk.2_Missense_Mutation_p.A423S|GBA_uc001fjl.2_Missense_Mutation_p.A423S|GBA_uc010pfy.1_Missense_Mutation_p.A336S	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	423					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GGGTTCAGGGCAAGGTTCCAG	0.532000									Gaucher_disease_type_I			
LMNA	4000	broad.mit.edu	37	1	156108328	156108328	+	Missense_Mutation	SNP	C	C	T	rs59601651		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:156108328C>T	uc001fni.2	+	11	1997	c.1748C>T	c.(1747-1749)TCG>TTG	p.S583L	LMNA_uc001fnf.1_3'UTR|LMNA_uc001fnh.2_Missense_Mutation_p.S553L|LMNA_uc009wro.1_Missense_Mutation_p.S583L|LMNA_uc001fnj.2_3'UTR|LMNA_uc001fnk.2_Missense_Mutation_p.S484L|LMNA_uc010pha.1_3'UTR|LMNA_uc010phb.1_RNA	NM_170707	NP_733821	P02545	LMNA_HUMAN	lamin A/C isoform 1 precursor	583	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity			ovary(2)	2	Hepatocellular(266;0.158)					AACCTGCGCTCGCGCACCGTG	0.692000									Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome			
SEMA4A	64218	broad.mit.edu	37	1	156146501	156146501	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:156146501A>G	uc001fnl.2	+	15	2103	c.1999A>G	c.(1999-2001)AGG>GGG	p.R667G	SEMA4A_uc009wrq.2_Missense_Mutation_p.R667G|SEMA4A_uc001fnm.2_Missense_Mutation_p.R667G|SEMA4A_uc001fnn.2_Missense_Mutation_p.R535G|SEMA4A_uc001fno.2_Missense_Mutation_p.R667G	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	667	Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CCCGTTGACCAGGGTCAGTGG	0.622000												
CD1D	912	broad.mit.edu	37	1	158152725	158152725	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:158152725T>G	uc001frr.2	+	5	1164	c.665T>G	c.(664-666)CTG>CGG	p.L222R	CD1D_uc009wss.2_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	222	Ig-like.|Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)					CGTCTGCTGCTGGTGTGCCAT	0.602000												
KCNJ9	3765	broad.mit.edu	37	1	160054211	160054211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:160054211C>T	uc001fuy.1	+	2	633	c.391C>T	c.(391-393)CAG>TAG	p.Q131*		NM_004983	NP_004974	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel subfamily	131	Extracellular (By similarity).				synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			ovary(1)|skin(1)	2	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCGACCAGTGCCCCGA	0.637000												
HSPA6	3310	broad.mit.edu	37	1	161495291	161495291	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:161495291G>T	uc001gap.2	+	2	1503	c.843G>T	c.(841-843)CAG>CAT	p.Q281H	HSPA6_uc001gaq.2_Missense_Mutation_p.Q281H	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	281					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCAGCACCCAGGCCACCCTGG	0.642000												
ATF6	22926	broad.mit.edu	37	1	161816299	161816299	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:161816299G>A	uc001gbr.2	+	10	1315	c.1248G>A	c.(1246-1248)AGG>AGA	p.R416R	ATF6_uc001gbq.1_Silent_p.R416R	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	416	Lumenal (Potential).			RR->AA: Reduces proteolytic cleavage.	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ATCAAAGGAGGCACCTTCTAG	0.403000												
LRRC52	440699	broad.mit.edu	37	1	165513572	165513572	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:165513572C>T	uc001gde.2	+	1	95	c.39C>T	c.(37-39)CTC>CTT	p.L13L	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52 precursor	13						integral to membrane				ovary(1)	1	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GGTGGTTACTCTTTTCCTTTG	0.512000												
DUSP27	92235	broad.mit.edu	37	1	167096928	167096928	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:167096928T>C	uc001geb.1	+	5	2560	c.2560T>C	c.(2560-2562)TAC>CAC	p.Y854H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27	854					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			ovary(3)	3						GATGTCTGAGTACAAAATGGA	0.493000												
CEP350	9857	broad.mit.edu	37	1	180063357	180063357	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:180063357A>G	uc001gnt.2	+	34	8500	c.8117A>G	c.(8116-8118)AAC>AGC	p.N2706S	CEP350_uc009wxl.2_Missense_Mutation_p.N2705S|CEP350_uc001gnv.2_Missense_Mutation_p.N841S|CEP350_uc001gnw.1_Missense_Mutation_p.N463S|CEP350_uc001gnx.1_Missense_Mutation_p.N463S	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	2706						centrosome|nucleus|spindle				ovary(4)	4						GAGGAAGACAACCTATATGCT	0.408000												
CFH	3075	broad.mit.edu	37	1	196695710	196695710	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:196695710A>G	uc001gtj.3	+	13	2224	c.1984A>G	c.(1984-1986)AGA>GGA	p.R662G		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	662	Sushi 11.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TTGCAATCCTAGATTTCTAAT	0.343000												
IGFN1	91156	broad.mit.edu	37	1	201184907	201184907	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:201184907G>A	uc001gwc.2	+	4	1488	c.716G>A	c.(715-717)AGC>AAC	p.S239N	IGFN1_uc001gwb.2_Intron	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GGCCAGTACAGCGTGACACTG	0.642000												
PKP1	5317	broad.mit.edu	37	1	201253030	201253030	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:201253030G>A	uc001gwd.2	+	1	451	c.200G>A	c.(199-201)CGA>CAA	p.R67Q	PKP1_uc001gwe.2_Missense_Mutation_p.R67Q|PKP1_uc009wzm.2_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	plakophilin 1 isoform 1b	67					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			ovary(2)	2						CACTCCAATCGAGGTAAAGGC	0.667000												
ATP2B4	493	broad.mit.edu	37	1	203677055	203677055	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:203677055C>T	uc001gzw.2	+	10	2264	c.1380C>T	c.(1378-1380)ACC>ACT	p.T460T	ATP2B4_uc001gzv.2_Silent_p.T460T|ATP2B4_uc009xaq.2_Silent_p.T460T	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	460	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAACGCCACCGCCATCTGCT	0.488000												
PIK3C2B	5287	broad.mit.edu	37	1	204399062	204399062	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:204399062G>A	uc001haw.2	-	30	4864	c.4385C>T	c.(4384-4386)CCT>CTT	p.P1462L	PIK3C2B_uc010pqv.1_Missense_Mutation_p.P1434L	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1462	PX.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCCACCTCAGGGGGTGCGTG	0.667000												
CR1L	1379	broad.mit.edu	37	1	207818619	207818619	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:207818619G>A	uc001hga.3	+	1	162	c.41G>A	c.(40-42)CGG>CAG	p.R14Q	CR1L_uc001hfz.2_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	14						cytoplasm|extracellular region|membrane					0						TTTCCTTCCCGGCGCTTTCCT	0.667000												
PLXNA2	5362	broad.mit.edu	37	1	208390360	208390360	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:208390360G>C	uc001hgz.2	-	2	1666	c.908C>G	c.(907-909)GCC>GGC	p.A303G	PLXNA2_uc001hha.3_Missense_Mutation_p.A357G	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	303	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCCACCCCGGCCCGGGTGCA	0.612000												
DTL	51514	broad.mit.edu	37	1	212273987	212273987	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:212273987A>G	uc009xdc.2	+	14	1969	c.1655A>G	c.(1654-1656)AAG>AGG	p.K552R	DTL_uc010ptb.1_Missense_Mutation_p.K510R|DTL_uc001hiz.3_Missense_Mutation_p.K281R	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	552					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AATAGAGTAAAGAGGAGGCTA	0.458000												
ATF3	467	broad.mit.edu	37	1	212788387	212788387	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:212788387G>T	uc001hjf.2	+	2	157	c.24G>T	c.(22-24)CAG>CAT	p.Q8H	ATF3_uc001hjj.2_Missense_Mutation_p.Q8H|ATF3_uc009xdg.1_RNA|ATF3_uc001hjh.2_Missense_Mutation_p.Q8H|ATF3_uc001hji.2_Missense_Mutation_p.Q8H|ATF3_uc010ptg.1_RNA	NM_001030287	NP_001025458	P18847	ATF3_HUMAN	activating transcription factor 3 isoform 1	8						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		ACCCAGGCCAGGTCTCTGCCT	0.557000												
USH2A	7399	broad.mit.edu	37	1	216497693	216497693	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:216497693A>C	uc001hku.1	-	7	1532	c.1145T>G	c.(1144-1146)GTG>GGG	p.V382G	USH2A_uc001hkv.2_Missense_Mutation_p.V382G	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	382	Laminin N-terminal.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATATAAAACACCTGAAAATG	0.289000										HNSCC(13;0.011)		
OBSCN	84033	broad.mit.edu	37	1	228558394	228558394	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:228558394G>A	uc009xez.1	+	93	20225	c.20181G>A	c.(20179-20181)GCG>GCA	p.A6727A	OBSCN_uc001hsr.1_Silent_p.A1356A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6727					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)				CCATGCCTGCGGAGGAGGCCC	0.622000												
OBSCN	84033	broad.mit.edu	37	1	228566322	228566322	+	Silent	SNP	C	C	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:228566322C>G	uc009xez.1	+	105	23777	c.23733C>G	c.(23731-23733)GGC>GGG	p.G7911G	OBSCN_uc001hsr.1_Silent_p.G2540G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7911	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	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)				GTCCCAGGGGCCGGCCCTGCG	0.617000												
NUP133	55746	broad.mit.edu	37	1	229643960	229643960	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:229643960T>A	uc001htn.2	-	1	129	c.37A>T	c.(37-39)ACC>TCC	p.T13S		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	13					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CGGGACCCGGTACCCGGGGTC	0.721000												
PCNXL2	80003	broad.mit.edu	37	1	233134088	233134088	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:233134088C>T	uc001hvl.2	-	32	5935	c.5700G>A	c.(5698-5700)CCG>CCA	p.P1900P	PCNXL2_uc001hvk.1_Silent_p.P552P|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1900						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGCCACCACTCGGGGCATTGT	0.622000												
PLD5	200150	broad.mit.edu	37	1	242428713	242428713	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:242428713G>A	uc001hzn.1	-	4	660	c.533C>T	c.(532-534)TCG>TTG	p.S178L	PLD5_uc001hzl.3_Missense_Mutation_p.S116L|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.S86L			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;	178						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AATATTTTGCGAAGTCAGCTG	0.358000												
KIF26B	55083	broad.mit.edu	37	1	245849742	245849742	+	Missense_Mutation	SNP	G	G	A	rs73127009	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:245849742G>A	uc001ibf.1	+	12	3897	c.3457G>A	c.(3457-3459)GAT>AAT	p.D1153N	KIF26B_uc001ibg.1_Missense_Mutation_p.D771N|KIF26B_uc001ibh.1_Missense_Mutation_p.D395N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1153					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AACTCCTGTCGATGATGAGCA	0.587000												
NLRP3	114548	broad.mit.edu	37	1	247588307	247588307	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:247588307T>A	uc001icr.2	+	5	1700	c.1562T>A	c.(1561-1563)ATC>AAC	p.I521N	NLRP3_uc001ics.2_Missense_Mutation_p.I521N|NLRP3_uc001icu.2_Missense_Mutation_p.I521N|NLRP3_uc001icw.2_Missense_Mutation_p.I521N|NLRP3_uc001icv.2_Missense_Mutation_p.I521N|NLRP3_uc010pyw.1_Missense_Mutation_p.I519N|NLRP3_uc001ict.1_Missense_Mutation_p.I519N	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	521	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)			TACAGCTTCATCCACATGACT	0.507000												
OR2M5	127059	broad.mit.edu	37	1	248309098	248309098	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:248309098T>C	uc010pze.1	+	1	649	c.649T>C	c.(649-651)TCC>CCC	p.S217P		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|kidney(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CATCATCGCTTCCTATGCTCG	0.423000												
OR2M4	26245	broad.mit.edu	37	1	248402974	248402974	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:248402974C>T	uc010pzh.1	+	1	744	c.744C>T	c.(742-744)GTC>GTT	p.V248V		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTCTGTGGTCGGACTCTACT	0.522000												
IDI1	3422	broad.mit.edu	37	10	1088622	1088622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:1088622G>A	uc001iga.2	-	4	605	c.487C>T	c.(487-489)CGA>TGA	p.R163*	C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Nonsense_Mutation_p.R107*|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Nonsense_Mutation_p.R107*	NM_004508	NP_004499	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase	106	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding				0		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TGTGCTGCTCGCCTCACTCCA	0.463000												
WDR37	22884	broad.mit.edu	37	10	1118155	1118155	+	Silent	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:1118155C>A	uc001igf.1	+	2	233	c.60C>A	c.(58-60)TCC>TCA	p.S20S	WDR37_uc001ige.2_Silent_p.S20S|WDR37_uc009xhm.1_Silent_p.S20S|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_5'Flank	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	20											0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		AGCGCAAATCCCATAGCCTTT	0.488000												
FAM171A1	221061	broad.mit.edu	37	10	15290656	15290656	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:15290656G>A	uc001iob.2	-	5	743	c.736C>T	c.(736-738)CGG>TGG	p.R246W		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	246	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						TGGTCAAACCGCCACGCCGCG	0.552000												
SPAG6	9576	broad.mit.edu	37	10	22634743	22634743	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:22634743C>T	uc001iri.2	+	2	259	c.117C>T	c.(115-117)AAC>AAT	p.N39N	SPAG6_uc001irj.2_Silent_p.N39N|SPAG6_uc010qct.1_Translation_Start_Site|SPAG6_uc009xkh.2_Silent_p.N17N	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	39	ARM 1.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						CGCTGCAGAACGCGGGTGAGC	0.692000												
SVIL	6840	broad.mit.edu	37	10	29775128	29775128	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:29775128A>G	uc001iut.1	-	26	5418	c.4665T>C	c.(4663-4665)TAT>TAC	p.Y1555Y	LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.Y469Y|SVIL_uc001iuu.1_Silent_p.Y1129Y|SVIL_uc009xlc.2_Silent_p.Y347Y	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1555	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				TGGCTGCTTCATAGAGTTCAT	0.423000												
FZD8	8325	broad.mit.edu	37	10	35928502	35928502	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:35928502C>T	uc001iyz.1	-	1	1861	c.1856G>A	c.(1855-1857)CGC>CAC	p.R619H		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	frizzled 8 precursor	619	Cytoplasmic (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding				0						CCAGCAGCAGCGGGTGCACAG	0.408000												
RASGEF1A	221002	broad.mit.edu	37	10	43693537	43693537	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:43693537G>T	uc001jap.1	-	10	1220	c.1139C>A	c.(1138-1140)CCT>CAT	p.P380H	RASGEF1A_uc001jao.1_Missense_Mutation_p.P388H	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	380	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity				0						GTTGAACACAGGGATGACGAT	0.537000											OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF239	8187	broad.mit.edu	37	10	44052231	44052231	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:44052231A>G	uc001jaw.3	-	2	1950	c.1297T>C	c.(1297-1299)TGC>CGC	p.C433R	ZNF239_uc001jax.3_Missense_Mutation_p.C433R|ZNF239_uc009xmj.2_Missense_Mutation_p.C433R|ZNF239_uc009xmk.2_Missense_Mutation_p.C433R	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	433	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						CACTTGCTGCACTCATAGGGC	0.517000												
GDF10	2662	broad.mit.edu	37	10	48438579	48438579	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:48438579G>A	uc001jfb.2	-	1	588	c.132C>T	c.(130-132)CCC>CCT	p.P44P	GDF10_uc009xnp.2_Silent_p.P44P|GDF10_uc009xnq.1_Silent_p.P44P	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	44					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2						CGGCGGCCGCGGGCAGTGCGG	0.632000												
FRMPD2	143162	broad.mit.edu	37	10	49459733	49459733	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:49459733G>A	uc001jgi.2	-	2	134	c.27C>T	c.(25-27)GGC>GGT	p.G9G	FRMPD2_uc001jgh.2_5'UTR|FRMPD2_uc001jgj.2_Silent_p.G9G	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	9					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		ACAGGCTCATGCCTACAATAA	0.602000												
SLC18A3	6572	broad.mit.edu	37	10	50819345	50819345	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:50819345C>A	uc001jhw.2	+	1	999	c.559C>A	c.(559-561)CTG>ATG	p.L187M	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	187	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2						CCTGCAGGGCCTGGGCTCAGC	0.677000												
OGDHL	55753	broad.mit.edu	37	10	50946253	50946253	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:50946253T>G	uc001jie.2	-	18	2517	c.2375A>C	c.(2374-2376)GAC>GCC	p.D792A	OGDHL_uc009xog.2_Missense_Mutation_p.D819A|OGDHL_uc010qgt.1_Missense_Mutation_p.D735A|OGDHL_uc010qgu.1_Missense_Mutation_p.D583A	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like isoform a	792					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			pancreas(1)	1						GGCATCCGAGTCATCATTGCT	0.622000												
ANK3	288	broad.mit.edu	37	10	61833851	61833851	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:61833851G>A	uc001jky.2	-	37	6980	c.6788C>T	c.(6787-6789)GCA>GTA	p.A2263V	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	2263					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TCTTTCAGATGCACCTTCACC	0.463000												
EGR2	1959	broad.mit.edu	37	10	64573489	64573489	+	Silent	SNP	T	T	G	rs112474655		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:64573489T>G	uc010qim.1	-	3	1063	c.909A>C	c.(907-909)GCA>GCC	p.A303A	EGR2_uc010qin.1_Silent_p.A253A|EGR2_uc001jmi.2_Silent_p.A303A|EGR2_uc010qio.1_Silent_p.A316A|EGR2_uc009xph.2_Silent_p.A303A	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	303	Poly-Ala.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGCGGCGGCTGCTGCTGCTG	0.697000												
JMJD1C	221037	broad.mit.edu	37	10	64943307	64943307	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:64943307A>G	uc001jmn.2	-	22	7284	c.6984T>C	c.(6982-6984)CAT>CAC	p.H2328H	JMJD1C_uc001jml.2_Silent_p.H2091H|JMJD1C_uc001jmm.2_Silent_p.H2040H|JMJD1C_uc010qiq.1_Silent_p.H2146H|JMJD1C_uc009xpi.2_Silent_p.H2146H|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.H235H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	2328	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCCTATATCATGATCTTTAG	0.294000												
JMJD1C	221037	broad.mit.edu	37	10	64967739	64967739	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:64967739T>C	uc001jmn.2	-	10	3990	c.3690A>G	c.(3688-3690)CCA>CCG	p.P1230P	JMJD1C_uc001jml.2_Silent_p.P1011P|JMJD1C_uc001jmm.2_Silent_p.P942P|JMJD1C_uc010qiq.1_Silent_p.P1048P|JMJD1C_uc009xpi.2_Silent_p.P1048P|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Silent_p.P267P	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1230					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)					GAGTTAAAGTTGGAGGGGAAA	0.463000												
H2AFY2	55506	broad.mit.edu	37	10	71871427	71871427	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:71871427C>T	uc001jqm.2	+	9	1566	c.1107C>T	c.(1105-1107)CTC>CTT	p.L369L	H2AFY2_uc001jqn.2_RNA|AIFM2_uc010qjg.1_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	369	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			skin(1)	1						TGGCCAAGCTCGACGCCAAGT	0.577000												
PRF1	5551	broad.mit.edu	37	10	72358855	72358855	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:72358855T>C	uc009xqg.2	-	3	783	c.622A>G	c.(622-624)ACC>GCC	p.T208A	PRF1_uc001jrf.3_Missense_Mutation_p.T208A	NM_001083116	NP_001076585	P14222	PERF_HUMAN	perforin 1 precursor	208	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GCGGGCTGGGTGGAGGCGTTG	0.637000			M			various leukaemia|lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial_Hemophagocytic_Lymphohistiocytosis			
MYST4	23522	broad.mit.edu	37	10	76790451	76790451	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:76790451C>T	uc001jwn.1	+	18	6362	c.5869C>T	c.(5869-5871)CGG>TGG	p.R1957W	MYST4_uc001jwo.1_Missense_Mutation_p.R1665W|MYST4_uc001jwp.1_Missense_Mutation_p.R1774W	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1957	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)					GGGTCCTGCACGGACTTTAAC	0.522000			T	CREBBP	AML							
DUPD1	338599	broad.mit.edu	37	10	76797703	76797703	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:76797703G>A	uc001jwq.1	-	3	554	c.554C>T	c.(553-555)CCG>CTG	p.P185L		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	185	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCCCGGTTCGGGAGGACGCA	0.647000												
ZNF503	84858	broad.mit.edu	37	10	77158990	77158990	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:77158990C>T	uc001jxg.2	-	2	1794	c.1458G>A	c.(1456-1458)GCG>GCA	p.A486A	C10orf41_uc010qlf.1_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	zinc finger protein 503	486	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CGCCAGCAGCCGCGGCGGCCG	0.687000												
C10orf116	10974	broad.mit.edu	37	10	88728342	88728342	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:88728342A>T	uc001ked.2	+	1	155	c.41A>T	c.(40-42)GAG>GTG	p.E14V	AGAP11_uc001kee.2_5'Flank|uc001kec.1_3'UTR	NM_006829	NP_006820	Q15847	APM2_HUMAN	adipose specific 2	14											0						CAACAGGTGGAGGGGACCGCC	0.662000												
HTR7	3363	broad.mit.edu	37	10	92509261	92509261	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:92509261G>A	uc001kha.2	-	2	873	c.630C>T	c.(628-630)TCC>TCT	p.S210S	HTR7_uc001kgz.2_Silent_p.S210S|HTR7_uc001khb.2_Silent_p.S210S	NM_019859	NP_062873	P34969	5HT7R_HUMAN	5-hydroxytryptamine receptor 7 isoform d	210	Helical; Name=4; (By similarity).				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			ovary(1)	1					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGATGGAGGCGGAGAGAAGCC	0.493000												
TNKS2	80351	broad.mit.edu	37	10	93600433	93600433	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:93600433A>G	uc001khp.2	+	14	1940	c.1643A>G	c.(1642-1644)CAT>CGT	p.H548R		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	548	ANK 10.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				CTGCTACAGCATGGAGCTGAT	0.428000												
TNKS2	80351	broad.mit.edu	37	10	93617285	93617285	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:93617285A>G	uc001khp.2	+	24	3389	c.3092A>G	c.(3091-3093)CAT>CGT	p.H1031R		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	1031	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				ATGCTATTTCATGGTAAGATT	0.363000												
PLCE1	51196	broad.mit.edu	37	10	95931103	95931103	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:95931103C>T	uc001kjk.2	+	4	2293	c.1659C>T	c.(1657-1659)GTC>GTT	p.V553V	PLCE1_uc010qnx.1_Silent_p.V553V|PLCE1_uc001kjm.2_Silent_p.V245V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	553	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TCTTGCCAGTCGACTACCTTT	0.542000												
BLNK	29760	broad.mit.edu	37	10	97964352	97964352	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:97964352G>A	uc001kls.3	-	12	1016	c.838C>T	c.(838-840)CGC>TGC	p.R280C	BLNK_uc001kme.3_Missense_Mutation_p.R175C|BLNK_uc001klt.3_Missense_Mutation_p.R171C|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Missense_Mutation_p.R198C|BLNK_uc001klv.3_Missense_Mutation_p.R175C|BLNK_uc001klw.3_RNA|BLNK_uc001klx.3_Missense_Mutation_p.R257C|BLNK_uc001kly.3_Missense_Mutation_p.R280C|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Missense_Mutation_p.R257C|BLNK_uc001kmb.3_Missense_Mutation_p.R76C|BLNK_uc001kmc.3_RNA|BLNK_uc001kmd.3_Missense_Mutation_p.R198C|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	280					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCTCGGTGGCGTTCAGCAGGT	0.438000												
LBX1	10660	broad.mit.edu	37	10	102987446	102987446	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:102987446G>A	uc001ksx.2	-	2	572	c.427C>T	c.(427-429)CGC>TGC	p.R143C	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	143	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TATAGAAAGCGCTTTTCCAAT	0.582000												
PSD	5662	broad.mit.edu	37	10	104174786	104174786	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:104174786T>C	uc001kvg.1	-	4	1485	c.958A>G	c.(958-960)AGC>GGC	p.S320G	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S320G	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	320					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|urinary_tract(1)	3				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCTCAGAGCTGGGCTGACTT	0.672000												
NT5C2	22978	broad.mit.edu	37	10	104934693	104934693	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:104934693C>T	uc001kwo.2	-	3	209	c.23G>A	c.(22-24)CGG>CAG	p.R8Q	NT5C2_uc001kwq.2_Missense_Mutation_p.R8Q|NT5C2_uc001kwp.2_Intron	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	8					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATTCTGTAACCGATCACTCCA	0.338000												
VWA2	340706	broad.mit.edu	37	10	116020979	116020979	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:116020979C>A	uc001lbl.1	+	5	617	c.296C>A	c.(295-297)CCT>CAT	p.P99H	VWA2_uc001lbk.1_Missense_Mutation_p.P99H|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	99	VWFA 1.					extracellular region				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTTCCACTCCTCATCTGGAA	0.478000												
AFAP1L2	84632	broad.mit.edu	37	10	116057157	116057157	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:116057157G>A	uc001lbn.2	-	17	2430	c.2129C>T	c.(2128-2130)GCG>GTG	p.A710V	AFAP1L2_uc001lbo.2_Missense_Mutation_p.A710V|AFAP1L2_uc010qse.1_Missense_Mutation_p.A763V|AFAP1L2_uc001lbp.2_Missense_Mutation_p.A738V|AFAP1L2_uc001lbm.2_Missense_Mutation_p.A149V|AFAP1L2_uc010qsd.1_Missense_Mutation_p.A276V|AFAP1L2_uc001lbq.1_Missense_Mutation_p.A232V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	710	Potential.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTCCAGGCTCGCCAGGACTTC	0.592000												
FAM53B	9679	broad.mit.edu	37	10	126311936	126311936	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:126311936C>T	uc001lhv.1	-	5	1667	c.1144G>A	c.(1144-1146)GCC>ACC	p.A382T	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	382										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCGTCCAGGGCGCAGCTGTCT	0.701000												
CTBP2	1488	broad.mit.edu	37	10	126691652	126691652	+	Missense_Mutation	SNP	C	C	T	rs140067472		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:126691652C>T	uc009yak.2	-	5	522	c.235G>A	c.(235-237)GCC>ACC	p.A79T	CTBP2_uc009yal.2_Missense_Mutation_p.A79T|CTBP2_uc001lif.3_Missense_Mutation_p.A79T|CTBP2_uc001lih.3_Missense_Mutation_p.A79T|CTBP2_uc001lid.3_Missense_Mutation_p.A147T|CTBP2_uc001lie.3_Missense_Mutation_p.A619T	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	79					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TACATCATGGCGCCCACGGCT	0.632000												
DHX32	55760	broad.mit.edu	37	10	127530326	127530326	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:127530326G>A	uc001ljf.1	-	7	2020	c.1529C>T	c.(1528-1530)GCA>GTA	p.A510V	BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.A134V|DHX32_uc001ljg.1_Missense_Mutation_p.A510V|BCCIP_uc001ljc.3_3'UTR|BCCIP_uc010quj.1_3'UTR	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32	510						mitochondrion|nucleus	ATP binding|helicase activity			breast(2)|ovary(1)|lung(1)	4		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TACCATGGCTGCGATTGTTAG	0.368000												
EBF3	253738	broad.mit.edu	37	10	131640510	131640510	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:131640510G>A	uc001lki.1	-	13	1274	c.1215C>T	c.(1213-1215)AGC>AGT	p.S405S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	414					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGCGGGGAACGCTGTACAGCG	0.647000												
CD81	975	broad.mit.edu	37	11	2418088	2418088	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:2418088G>A	uc001lwf.1	+	8	936	c.703G>A	c.(703-705)GTG>ATG	p.V235M	CD81_uc001lwg.1_Missense_Mutation_p.V228M|CD81_uc001lwh.1_RNA	NM_004356	NP_004347	P60033	CD81_HUMAN	CD81 antigen	235	Cytoplasmic (Potential).				activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding				0		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAACAGCTCCGTGTACTGAGG	0.637000												
OR56A4	120793	broad.mit.edu	37	11	6023815	6023815	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6023815C>T	uc010qzv.1	-	1	564	c.564G>A	c.(562-564)CCG>CCA	p.P188P		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGATAGACGGGTATCTCA	0.488000												
OR56B4	196335	broad.mit.edu	37	11	6129814	6129814	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6129814C>T	uc010qzx.1	+	1	806	c.806C>T	c.(805-807)GCA>GTA	p.A269V		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	269	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A269T(1)		central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACACCTTGCAGAGAAAAAG	0.507000												
DNHD1	144132	broad.mit.edu	37	11	6592451	6592451	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6592451C>T	uc001mdw.3	+	42	14273	c.13709C>T	c.(13708-13710)GCG>GTG	p.A4570V	DNHD1_uc001mea.3_Missense_Mutation_p.A839V|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.A838V|DNHD1_uc010rao.1_Missense_Mutation_p.A828V|DNHD1_uc009yfg.2_Missense_Mutation_p.A195V	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4570					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)		GGCGTGGGCGCGGACGCGAGC	0.687000												
DNHD1	144132	broad.mit.edu	37	11	6592454	6592454	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6592454A>G	uc001mdw.3	+	42	14276	c.13712A>G	c.(13711-13713)GAC>GGC	p.D4571G	DNHD1_uc001mea.3_Missense_Mutation_p.D840G|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.D839G|DNHD1_uc010rao.1_Missense_Mutation_p.D829G|DNHD1_uc009yfg.2_Missense_Mutation_p.D196G	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4571					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)		GTGGGCGCGGACGCGAGCAGT	0.687000												
DCHS1	8642	broad.mit.edu	37	11	6662364	6662364	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:6662364G>A	uc001mem.1	-	2	891	c.481C>T	c.(481-483)CGC>TGC	p.R161C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	161	Cadherin 2.|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)		AGTGGGTAGCGGGTGCCAAAA	0.607000												
DKK3	27122	broad.mit.edu	37	11	12029972	12029972	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:12029972T>C	uc001mju.2	-	1	215	c.158A>G	c.(157-159)GAG>GGG	p.E53G	DKK3_uc010rcf.1_Missense_Mutation_p.E53G|DKK3_uc001mjv.2_Missense_Mutation_p.E53G|DKK3_uc001mjw.2_Missense_Mutation_p.E53G|DKK3_uc010rcg.1_Missense_Mutation_p.E53G|DKK3_uc001mjx.2_Missense_Mutation_p.E53G	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN	dickkopf homolog 3 precursor	53	Potential.				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space				breast(1)	1				Epithelial(150;0.000502)		TTCCTCAACCTCGCGGAACAT	0.692000												
MYOD1	4654	broad.mit.edu	37	11	17741442	17741442	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:17741442C>T	uc001mni.2	+	1	333	c.113C>T	c.(112-114)CCG>CTG	p.P38L		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	38					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	p.P38P(1)		breast(2)|ovary(1)	3						TTCGACTCCCCGGACCTGCGC	0.667000												
CD44	960	broad.mit.edu	37	11	35229751	35229751	+	Missense_Mutation	SNP	C	C	T	rs147167567		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:35229751C>T	uc001mvu.2	+	12	1948	c.1514C>T	c.(1513-1515)ACG>ATG	p.T505M	CD44_uc001mvv.2_Missense_Mutation_p.T462M|CD44_uc001mvw.2_Missense_Mutation_p.T256M|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.T69M|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Missense_Mutation_p.T33M	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	505	Extracellular (Potential).|Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TCAATGACAACGCGTAAGAAT	0.448000												
C11orf94	143678	broad.mit.edu	37	11	45928442	45928442	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:45928442C>T	uc001nbs.3	-	2	190	c.153G>A	c.(151-153)CAG>CAA	p.Q51Q		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	hypothetical protein LOC143678	51						extracellular region					0						CGGAAAGTGGCTGCGAGAGTT	0.627000												
PTPRJ	5795	broad.mit.edu	37	11	48177606	48177606	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:48177606C>T	uc001ngp.3	+	21	3728	c.3373C>T	c.(3373-3375)CGT>TGT	p.R1125C		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1125	Tyrosine-protein phosphatase.|Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						AGATTTTTGGCGTATGGTTTG	0.333000												
OR4B1	119765	broad.mit.edu	37	11	48239219	48239219	+	Silent	SNP	A	A	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:48239219A>T	uc010rhs.1	+	1	858	c.858A>T	c.(856-858)ACA>ACT	p.T286T		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4						TCATTTACACACTCAGGAATG	0.443000												
OR5L2	26338	broad.mit.edu	37	11	55595253	55595253	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:55595253C>T	uc001nhy.1	+	1	559	c.559C>T	c.(559-561)CTT>TTT	p.L187F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)				TCTCCTAAGTCTTGCTTGCTC	0.458000										HNSCC(27;0.073)		
OR1S2	219958	broad.mit.edu	37	11	57971241	57971241	+	Missense_Mutation	SNP	G	G	A	rs149153142		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:57971241G>A	uc010rkb.1	-	1	413	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				GTGGCAGATCGCCACAAAGTG	0.458000												
OR5B21	219968	broad.mit.edu	37	11	58275210	58275210	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:58275210C>T	uc010rki.1	-	1	369	c.369G>A	c.(367-369)GCG>GCA	p.A123A		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	123	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTACATACCGCTGCATGGC	0.532000												
CCDC86	79080	broad.mit.edu	37	11	60617781	60617781	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:60617781C>T	uc001nqa.2	+	4	1235	c.1066C>T	c.(1066-1068)CCG>TCG	p.P356S	CCDC86_uc001nqb.2_Missense_Mutation_p.P100S	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	356					interspecies interaction between organisms	nucleus					0						GCCCCAGCAGCCGGCAGCCAA	0.642000												
DAGLA	747	broad.mit.edu	37	11	61511877	61511877	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:61511877G>A	uc001nsa.2	+	20	3156	c.3045G>A	c.(3043-3045)GCG>GCA	p.A1015A		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	1015	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)		AATGCCTGGCGGCTGACAAGA	0.652000												
AHNAK	79026	broad.mit.edu	37	11	62289568	62289568	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:62289568A>G	uc001ntl.2	-	5	12621	c.12321T>C	c.(12319-12321)GGT>GGC	p.G4107G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4107					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TCCCTTCTGGACCATGAATAT	0.468000												
EML3	256364	broad.mit.edu	37	11	62377121	62377121	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:62377121C>A	uc001ntu.1	-	5	922	c.614G>T	c.(613-615)CGG>CTG	p.R205L	EML3_uc001ntr.1_Missense_Mutation_p.R177L|EML3_uc001nts.1_Missense_Mutation_p.R177L|EML3_uc001ntt.1_Missense_Mutation_p.R89L|EML3_uc010rly.1_Missense_Mutation_p.R205L|EML3_uc009yny.1_5'UTR	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	205						cytoplasm|microtubule	protein binding			ovary(1)	1						ATTGCTCCTCCGAGATCCAGG	0.547000												
FERMT3	83706	broad.mit.edu	37	11	63987213	63987213	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:63987213A>T	uc001nyl.2	+	9	1180	c.1031A>T	c.(1030-1032)GAC>GTC	p.D344V	FERMT3_uc001nym.2_Missense_Mutation_p.D344V	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	344	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CTCCCATAGGACAGCCTCACC	0.627000												
CDC42BPG	55561	broad.mit.edu	37	11	64594015	64594015	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:64594015G>T	uc001obs.3	-	36	4526	c.4526C>A	c.(4525-4527)CCC>CAC	p.P1509H		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1509					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						GGATGTCCAGGGTTTCCTCTT	0.587000												
ATG2A	23130	broad.mit.edu	37	11	64675299	64675299	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:64675299G>A	uc001obx.2	-	17	2543	c.2428C>T	c.(2428-2430)CGC>TGC	p.R810C		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	810							protein binding			ovary(1)|central_nervous_system(1)	2						AGGCTGCAGCGGGACAGTGCC	0.602000												
KAT5	10524	broad.mit.edu	37	11	65482143	65482143	+	Silent	SNP	T	T	C	rs114058675	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:65482143T>C	uc001ofi.2	+	8	1019	c.769T>C	c.(769-771)TTG>CTG	p.L257L	KAT5_uc001ofj.2_Silent_p.L205L|KAT5_uc001ofk.2_Silent_p.L290L|KAT5_uc010roo.1_Silent_p.L238L|KAT5_uc001ofl.2_Silent_p.L46L	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	257				L->A: Does not affect phosphorylation; when associated with A-254.	androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						ACTCACCACATTGCCTGTCCT	0.577000												
NPAS4	266743	broad.mit.edu	37	11	66191381	66191381	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:66191381G>A	uc001ohx.1	+	7	1196	c.1020G>A	c.(1018-1020)CCG>CCA	p.P340P	NPAS4_uc010rpc.1_Silent_p.P130P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	340					transcription, DNA-dependent		DNA binding|signal transducer activity				0						TGGGCACTCCGACCATGCTGC	0.577000												
TBC1D10C	374403	broad.mit.edu	37	11	67171768	67171768	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:67171768G>A	uc001ola.2	+	2	124	c.95G>A	c.(94-96)GGC>GAC	p.G32D	PPP1CA_uc009yro.1_5'Flank|PPP1CA_uc001okt.1_5'Flank|PPP1CA_uc001oku.1_5'Flank|PPP1CA_uc001okv.1_5'Flank|PPP1CA_uc001okw.1_5'Flank|PPP1CA_uc001okx.1_Intron|PPP1CA_uc001oky.2_5'Flank|TBC1D10C_uc001okz.2_Missense_Mutation_p.G32D|TBC1D10C_uc001olb.2_RNA	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	32						intracellular	Rab GTPase activator activity				0			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCGGGCCTGGCCCATATCGC	0.677000												
GPR152	390212	broad.mit.edu	37	11	67218801	67218801	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:67218801C>T	uc001olm.2	-	1	1400	c.1395G>A	c.(1393-1395)CCG>CCA	p.P465P	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	465	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCTGCGCCCGGGGCCGCCT	0.682000												
PITPNM1	9600	broad.mit.edu	37	11	67259711	67259711	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:67259711C>T	uc001olx.2	-	23	3717	c.3528G>A	c.(3526-3528)TCG>TCA	p.S1176S	PITPNM1_uc001olw.2_Silent_p.S458S|PITPNM1_uc001oly.2_Silent_p.S1176S|PITPNM1_uc001olz.2_Silent_p.S1175S	NM_004910	NP_004901	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein,	1176					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			lung(2)|central_nervous_system(1)	3						AGGAGGCATGCGAGTGCGAGC	0.662000												
SAPS3	55291	broad.mit.edu	37	11	68326104	68326104	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:68326104G>A	uc001onw.2	+	8	1069	c.802G>A	c.(802-804)GCA>ACA	p.A268T	SAPS3_uc001onv.2_Missense_Mutation_p.A268T|SAPS3_uc001ony.3_Missense_Mutation_p.A268T|SAPS3_uc001onx.2_Missense_Mutation_p.A268T|SAPS3_uc009ysh.2_Missense_Mutation_p.A268T|SAPS3_uc001onu.2_Missense_Mutation_p.A268T|SAPS3_uc010rqc.1_Intron|SAPS3_uc010rqd.1_5'UTR	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	268					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			CATAGTCAGTGCAATCCAGAT	0.353000												
SHANK2	22941	broad.mit.edu	37	11	70332446	70332446	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:70332446T>C	uc001oqc.2	-	21	4030	c.3952A>G	c.(3952-3954)ACC>GCC	p.T1318A	SHANK2_uc010rqn.1_Missense_Mutation_p.T730A|SHANK2_uc001opz.2_Missense_Mutation_p.T723A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	939					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)			GCGTCCACGGTGTGCACCATC	0.607000												
SHANK2	22941	broad.mit.edu	37	11	70332856	70332856	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:70332856C>A	uc001oqc.2	-	21	3620	c.3542G>T	c.(3541-3543)GGG>GTG	p.G1181V	SHANK2_uc010rqn.1_Missense_Mutation_p.G593V|SHANK2_uc001opz.2_Missense_Mutation_p.G586V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	802					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)			GCTCTCGGGCCCCTGGGCTTT	0.692000												
PDE2A	5138	broad.mit.edu	37	11	72295734	72295734	+	Silent	SNP	C	C	T	rs150054293	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:72295734C>T	uc010rrc.1	-	18	1641	c.1398G>A	c.(1396-1398)GCG>GCA	p.A466A	PDE2A_uc001oso.2_Silent_p.A445A|PDE2A_uc010rra.1_Silent_p.A459A|PDE2A_uc001osn.2_Silent_p.A210A|PDE2A_uc010rrb.1_Silent_p.A457A|PDE2A_uc010rrd.1_Silent_p.A351A	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	466	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCACGTGTCCCGCGATGCCCT	0.632000												
C2CD3	26005	broad.mit.edu	37	11	73811600	73811600	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:73811600A>C	uc001ouu.2	-	15	2929	c.2702T>G	c.(2701-2703)CTT>CGT	p.L901R		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	901						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)					GTGGAGGGGAAGTTTCACCAG	0.418000												
XRRA1	143570	broad.mit.edu	37	11	74563070	74563070	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:74563070C>T	uc009yub.2	-	13	1536	c.1204G>A	c.(1204-1206)GTC>ATC	p.V402I	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.V25I|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Intron|XRRA1_uc001ovp.3_Missense_Mutation_p.V127I|XRRA1_uc001ovr.2_Missense_Mutation_p.V25I|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	402					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1						TTATGAAAGACGAACTCGCAG	0.542000												
MMP12	4321	broad.mit.edu	37	11	102743659	102743659	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:102743659C>T	uc001phk.2	-	2	331	c.286G>A	c.(286-288)GAT>AAT	p.D96N		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	96	Cysteine switch (By similarity).				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGATGGACATCGGGGACTCCA	0.493000												
DDI1	414301	broad.mit.edu	37	11	103908603	103908603	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:103908603C>T	uc001phr.2	+	1	1296	c.1053C>T	c.(1051-1053)ATC>ATT	p.I351I	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	351					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGCTGGTCATCGGCACCACTG	0.463000												
TTC12	54970	broad.mit.edu	37	11	113220807	113220807	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:113220807G>A	uc001pnu.2	+	14	1272	c.1167G>A	c.(1165-1167)GCG>GCA	p.A389A	TTC12_uc001pnv.2_Silent_p.A395A|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.A239A	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	389							binding			pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TATTGGAAGCGCTGGTGTCAT	0.413000												
DRD2	1813	broad.mit.edu	37	11	113287588	113287588	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:113287588C>T	uc001pnz.2	-	3	850	c.529G>A	c.(529-531)GCA>ACA	p.A177T	DRD2_uc010rwv.1_Missense_Mutation_p.A176T|DRD2_uc001poa.3_Missense_Mutation_p.A177T|DRD2_uc001pob.3_Missense_Mutation_p.A177T|DRD2_uc009yyr.1_Missense_Mutation_p.A177T	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	177	Extracellular (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AATGTACCTGCGTTATTGAGT	0.602000												
TECTA	7007	broad.mit.edu	37	11	120998812	120998812	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:120998812G>A	uc010rzo.1	+	8	2126	c.2126G>A	c.(2125-2127)CGG>CAG	p.R709Q		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	709					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)		TTCCCCAAGCGGGAGACCGTG	0.657000												
SORL1	6653	broad.mit.edu	37	11	121475876	121475876	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:121475876G>A	uc001pxx.2	+	34	4786	c.4706G>A	c.(4705-4707)GGG>GAG	p.G1569E	SORL1_uc010rzp.1_Missense_Mutation_p.G415E|SORL1_uc010rzq.1_Missense_Mutation_p.G184E	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1569	Extracellular (Potential).|Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTTCTCTGGGGATGTGACT	0.408000												
FOXRED1	55572	broad.mit.edu	37	11	126147471	126147471	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:126147471C>T	uc001qdi.2	+	11	1395	c.1348C>T	c.(1348-1350)CGA>TGA	p.R450*	FOXRED1_uc010sbn.1_Nonsense_Mutation_p.R280*|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Nonsense_Mutation_p.R263*|FOXRED1_uc010sbq.1_Nonsense_Mutation_p.R317*|FOXRED1_uc001qdj.2_Nonsense_Mutation_p.R239*|FOXRED1_uc010sbr.1_Nonsense_Mutation_p.R436*|FOXRED1_uc001qdk.2_Nonsense_Mutation_p.R239*	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing	450						integral to membrane|mitochondrion	oxidoreductase activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TGGCATTGGGCGAGCTGTAGC	0.572000												
APLP2	334	broad.mit.edu	37	11	129992283	129992283	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:129992283A>G	uc010sby.1	+	6	954	c.797A>G	c.(796-798)GAA>GGA	p.E266G	APLP2_uc001qfp.2_Missense_Mutation_p.E266G|APLP2_uc001qfq.2_Missense_Mutation_p.E266G|APLP2_uc010sbz.1_Missense_Mutation_p.E110G|APLP2_uc001qfr.2_Missense_Mutation_p.E88G|APLP2_uc001qfs.2_Intron|APLP2_uc001qfv.2_Missense_Mutation_p.E213G	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	266	Asp/Glu-rich (highly acidic).|Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		gaaggggaggaagtggtggag	0.358000												
B3GAT1	27087	broad.mit.edu	37	11	134253988	134253988	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:134253988G>A	uc001qhq.2	-	4	468	c.207C>T	c.(205-207)ACC>ACT	p.T69T	B3GAT1_uc001qhr.2_Silent_p.T69T|B3GAT1_uc010scv.1_Silent_p.T82T	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	69	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACACGTACTCGGTGCGCACCA	0.701000												
KDM5A	5927	broad.mit.edu	37	12	427454	427454	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:427454G>A	uc001qif.1	-	19	3078	c.2715C>T	c.(2713-2715)GAC>GAT	p.D905D	KDM5A_uc001qie.1_Silent_p.D905D|KDM5A_uc010sdn.1_Silent_p.D864D	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	905					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3						GTCTTACTTCGTCCAACCACC	0.493000			T 	NUP98	AML							
NCAPD2	9918	broad.mit.edu	37	12	6639960	6639960	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:6639960C>A	uc001qoo.2	+	30	3987	c.3941C>A	c.(3940-3942)CCA>CAA	p.P1314Q	NCAPD2_uc010sfd.1_Missense_Mutation_p.P1269Q	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1314					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5						CAGAGAGCGCCATCAGCCAAG	0.512000												
C3AR1	719	broad.mit.edu	37	12	8212583	8212583	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:8212583C>T	uc001qtv.1	-	2	291	c.199G>A	c.(199-201)GCG>ACG	p.A67T		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	67	Helical; Name=2; (Potential).				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)	1				Kidney(36;0.0893)		AGGAGGTCCGCCAAGGTGAGG	0.587000												
TAS2R14	50840	broad.mit.edu	37	12	11091143	11091143	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:11091143C>T	uc010shi.1	-	1	664	c.664G>A	c.(664-666)GCC>ACC	p.A222T	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_RNA	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	222	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity				0						TTGGTGCTGGCGTCTCCGGAT	0.438000												
ETV6	2120	broad.mit.edu	37	12	11905513	11905513	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:11905513C>T	uc001qzz.2	+	2	437	c.163C>T	c.(163-165)CGC>TGC	p.R55C		NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	55	PNT.	Breakpoint for translocation to form ETV6-MDS2 in MDS.|Breakpoint for translocation to form PAX5-ETV6.				cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TGCGCACCTGCGTGAGTGTTC	0.647000			T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL							
SYT10	341359	broad.mit.edu	37	12	33592643	33592643	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:33592643G>A	uc001rll.1	-	1	112	c.-185C>T	c.(-187--183)TACGC>TATGC		SYT10_uc009zju.1_Translation_Start_Site	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X							cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AGCGGAGGGCGTAGGGGAAGG	0.701000												
ANO6	196527	broad.mit.edu	37	12	45740868	45740868	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:45740868T>C	uc001roo.2	+	4	678	c.343T>C	c.(343-345)TCA>CCA	p.S115P	ANO6_uc010sld.1_Missense_Mutation_p.S115P|ANO6_uc010sle.1_Missense_Mutation_p.S115P|ANO6_uc010slf.1_Missense_Mutation_p.S136P|ANO6_uc010slg.1_Missense_Mutation_p.S97P	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	115	Cytoplasmic (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2						AGCAACAAGATCAGTAAGTAC	0.458000												
FKBP11	51303	broad.mit.edu	37	12	49317602	49317602	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:49317602C>A	uc001rsp.2	-	5	470	c.351G>T	c.(349-351)TTG>TTT	p.L117F	FKBP11_uc010sma.1_Missense_Mutation_p.L15F|FKBP11_uc001rsq.3_3'UTR|FKBP11_uc010smb.1_Missense_Mutation_p.L117F	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11 isoform 1 precursor	117	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0						TTCCATAGGCCAAGTGAGAAG	0.522000												
ESPL1	9700	broad.mit.edu	37	12	53685483	53685483	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:53685483A>G	uc001sck.2	+	26	5621	c.5530A>G	c.(5530-5532)AGT>GGT	p.S1844G	ESPL1_uc001scj.2_Missense_Mutation_p.S1519G	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	1844					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3						GATCATGCTCAGTGGTGCCGG	0.562000												
PCBP2	5094	broad.mit.edu	37	12	53861054	53861054	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:53861054C>T	uc001sdl.3	+	11	1126	c.776C>T	c.(775-777)ACG>ATG	p.T259M	PCBP2_uc001sdc.3_Missense_Mutation_p.T259M|PCBP2_uc001sdb.3_Missense_Mutation_p.T255M|PCBP2_uc001sde.3_Missense_Mutation_p.T255M|PCBP2_uc001sdi.3_Missense_Mutation_p.T228M|PCBP2_uc001sdd.3_Missense_Mutation_p.T224M|PCBP2_uc001sdf.3_Missense_Mutation_p.T224M|PCBP2_uc009zna.2_Missense_Mutation_p.T216M|PCBP2_uc010soi.1_Missense_Mutation_p.T9M|PCBP2_uc001sdj.3_Missense_Mutation_p.T9M|PCBP2_uc010soj.1_Missense_Mutation_p.T9M|PCBP2_uc001sdk.3_Missense_Mutation_p.T44M|PCBP2_uc010soh.1_Missense_Mutation_p.T255M	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d	259					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0						TTTCCCATGACGCATGGCAAC	0.488000												
TARBP2	6895	broad.mit.edu	37	12	53897560	53897560	+	Silent	SNP	T	T	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:53897560T>A	uc001sdo.2	+	4	878	c.390T>A	c.(388-390)GCT>GCA	p.A130A	TARBP2_uc009znb.2_Silent_p.A130A|TARBP2_uc001sdp.2_Silent_p.A109A|TARBP2_uc001sdq.2_5'UTR|TARBP2_uc001sdr.2_5'UTR|TARBP2_uc001sds.2_Silent_p.A130A|TARBP2_uc001sdt.2_Silent_p.A109A|TARBP2_uc001sdu.2_5'UTR|TARBP2_uc001sdv.2_RNA	NM_134323	NP_599150	Q15633	TRBP2_HUMAN	TAR RNA binding protein 2 isoform a	130					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)	1						CTGCAGCAGCTGCTACCCCAG	0.542000												
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:56478854G>A	uc001sjh.2	+	3	503	c.310G>A	c.(310-312)GTG>ATG	p.V104M	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	104	Extracellular (Potential).		V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(1)		lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000												
ESYT1	23344	broad.mit.edu	37	12	56526318	56526318	+	Silent	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:56526318C>A	uc001sjq.2	+	9	1148	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	ESYT1_uc001sjr.2_Silent_p.T366T	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	366	C2 1.					integral to membrane				ovary(4)|skin(1)	5						GTTTGGGTACCCAGACATTCT	0.522000												
BEST3	144453	broad.mit.edu	37	12	70070963	70070963	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:70070963G>A	uc001svg.2	-	6	938	c.711C>T	c.(709-711)ACC>ACT	p.T237T	BEST3_uc001svd.1_Silent_p.T237T|BEST3_uc001sve.1_RNA|BEST3_uc001svf.2_Silent_p.T75T|BEST3_uc010stm.1_Silent_p.T131T|BEST3_uc001svh.2_Silent_p.T75T	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	237						chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCTTACCTGGGTGTAAACCA	0.483000												
CAPS2	84698	broad.mit.edu	37	12	75692669	75692669	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:75692669C>T	uc001sxk.3	-	11	1186	c.989G>A	c.(988-990)CGA>CAA	p.R330Q	CAPS2_uc001sxm.3_Missense_Mutation_p.R98Q|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.R311Q	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	330							calcium ion binding			ovary(2)	2						CCCAAATTGTCGATATTCATA	0.338000												
PPP1R12A	4659	broad.mit.edu	37	12	80190590	80190590	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:80190590G>A	uc001syz.2	-	17	2700	c.2433C>T	c.(2431-2433)TCC>TCT	p.S811S	PPP1R12A_uc010suc.1_Silent_p.S724S|PPP1R12A_uc001sza.2_Silent_p.S755S|PPP1R12A_uc010sud.1_Silent_p.S811S|PPP1R12A_uc001szb.2_Silent_p.S811S	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	811	Interaction with ROCK2.					contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TTATTCCTCTGGAGTAAGCAG	0.353000												
ANKS1B	56899	broad.mit.edu	37	12	99837450	99837450	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:99837450C>A	uc001tge.1	-	11	1992	c.1575_splice	c.e11+1	p.Q525_splice	ANKS1B_uc001tgf.1_Splice_Site_p.Q105_splice|ANKS1B_uc009ztt.1_Splice_Site_p.Q491_splice	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGCACTTACCTGGGGTCGA	0.413000												
SCYL2	55681	broad.mit.edu	37	12	100732521	100732521	+	Silent	SNP	C	C	T	rs149703920		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:100732521C>T	uc001thn.2	+	18	2411	c.2361C>T	c.(2359-2361)CCC>CCT	p.P787P		NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 protein	787	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			lung(3)|ovary(2)|skin(1)	6						TCAACATGCCCGTTAATACAA	0.408000												
NR1H4	9971	broad.mit.edu	37	12	100957258	100957258	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:100957258C>T	uc001tht.1	+	9	1480	c.1452C>T	c.(1450-1452)GAC>GAT	p.D484D	NR1H4_uc001thp.1_Silent_p.D470D|NR1H4_uc001thq.1_Silent_p.D474D|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.D474D|NR1H4_uc010svk.1_Silent_p.D423D|NR1H4_uc001ths.1_Silent_p.D480D	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	484					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						AAATCTGGGACGTGCAGTGAT	0.433000												
ANO4	121601	broad.mit.edu	37	12	101488050	101488050	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:101488050C>T	uc010svm.1	+	18	2290	c.1718C>T	c.(1717-1719)GCC>GTC	p.A573V	ANO4_uc001thw.2_Missense_Mutation_p.A538V|ANO4_uc001thx.2_Missense_Mutation_p.A573V|ANO4_uc001thy.2_Missense_Mutation_p.A93V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	573	Extracellular (Potential).					chloride channel complex	chloride channel activity	p.T573I(1)		ovary(4)|skin(2)	6						GAAAAAGTTGCCCTGCTTCTG	0.338000										HNSCC(74;0.22)		
MYBPC1	4604	broad.mit.edu	37	12	102046519	102046519	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:102046519T>C	uc001tii.2	+	15	1617	c.1515T>C	c.(1513-1515)CCT>CCC	p.P505P	MYBPC1_uc001tig.2_Silent_p.P530P|MYBPC1_uc010svq.1_Silent_p.P492P|MYBPC1_uc001tih.2_Silent_p.P530P|MYBPC1_uc001tij.2_Silent_p.P505P|MYBPC1_uc010svr.1_Silent_p.P505P|MYBPC1_uc010svs.1_Silent_p.P505P|MYBPC1_uc010svt.1_Silent_p.P493P|MYBPC1_uc010svu.1_Silent_p.P486P|MYBPC1_uc001tik.2_Silent_p.P479P	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	505	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						TATTTGCACCTGATGCCTACA	0.363000												
UBE3B	89910	broad.mit.edu	37	12	109935661	109935661	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:109935661G>A	uc001top.2	+	10	1355	c.752G>A	c.(751-753)CGG>CAG	p.R251Q	UBE3B_uc001toq.2_Missense_Mutation_p.R251Q|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.R251Q	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	251					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4						AATCTGATTCGGCCGTTCCTC	0.517000												
ATP2A2	488	broad.mit.edu	37	12	110778544	110778544	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:110778544G>A	uc001tqk.3	+	14	2405	c.1842G>A	c.(1840-1842)CGG>CGA	p.R614R	ATP2A2_uc001tql.3_Silent_p.R614R|ATP2A2_uc010sxy.1_Silent_p.R587R	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	614	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						AGCTGTGCCGGCAAGCAGGCA	0.577000												
C12orf51	283450	broad.mit.edu	37	12	112681729	112681729	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:112681729T>G	uc009zwc.2	-	23	3350	c.3332A>C	c.(3331-3333)GAC>GCC	p.D1111A		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CATTTCCAGGTCAGAAGGAGC	0.428000												
OAS3	4940	broad.mit.edu	37	12	113405292	113405292	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:113405292C>T	uc001tug.2	+	13	2846	c.2759C>T	c.(2758-2760)GCG>GTG	p.A920V		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	920	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1						TACAGCAATGCGGGCGAGTAC	0.577000												
LHX5	64211	broad.mit.edu	37	12	113905192	113905192	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:113905192C>T	uc001tvj.1	-	4	1284	c.710G>A	c.(709-711)CGG>CAG	p.R237Q		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	237	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CTGTTTCATCCGGCGTTCTTT	0.652000												
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:114377796C>T	uc009zwi.2	-	15	2051	c.1907G>A	c.(1906-1908)CGC>CAC	p.R636H	RBM19_uc001tvn.3_Missense_Mutation_p.R636H|RBM19_uc001tvm.2_Missense_Mutation_p.R636H	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622000												
RBM19	9904	broad.mit.edu	37	12	114383685	114383685	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:114383685G>A	uc009zwi.2	-	13	1718	c.1574C>T	c.(1573-1575)GCC>GTC	p.A525V	RBM19_uc001tvn.3_Missense_Mutation_p.A525V|RBM19_uc001tvm.2_Missense_Mutation_p.A525V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	525					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATGGCATCGGCCACGGCATT	0.562000												
FBXO21	23014	broad.mit.edu	37	12	117595815	117595815	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:117595815C>T	uc001twk.2	-	10	1440	c.1401G>A	c.(1399-1401)GCG>GCA	p.A467A	FBXO21_uc001twj.2_Silent_p.A460A|FBXO21_uc009zwq.2_Silent_p.A400A|FBXO21_uc001twl.1_Silent_p.A80A	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	467					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GGTAGCCCACCGCCCCGTGCT	0.532000												
NOS1	4842	broad.mit.edu	37	12	117728108	117728108	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:117728108T>C	uc001twm.1	-	4	1662	c.976A>G	c.(976-978)ACA>GCA	p.T326A		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	326					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTACCAATGTGCTCTTAAGG	0.383000												
GCN1L1	10985	broad.mit.edu	37	12	120575043	120575043	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:120575043G>A	uc001txo.2	-	50	6757	c.6744C>T	c.(6742-6744)GGC>GGT	p.G2248G		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2248					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATGCTCGCCTTTGCTCT	0.577000												
EP400	57634	broad.mit.edu	37	12	132504737	132504737	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:132504737C>T	uc001ujn.2	+	21	4456	c.4421C>T	c.(4420-4422)ACG>ATG	p.T1474M	EP400_uc001ujl.2_Missense_Mutation_p.T1473M|EP400_uc001ujm.2_Missense_Mutation_p.T1474M	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	1510					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)		CCCATCGCCACGTTCTCTGCC	0.617000												
DDX51	317781	broad.mit.edu	37	12	132624721	132624721	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:132624721G>A	uc001ujy.3	-	12	1736	c.1697C>T	c.(1696-1698)GCG>GTG	p.A566V		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	566	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GATGCCTCGCGCGGTGGCGTC	0.711000												
P2RX2	22953	broad.mit.edu	37	12	133197075	133197075	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:133197075C>T	uc001ukj.1	+	7	680	c.680C>T	c.(679-681)ACG>ATG	p.T227M	P2RX2_uc001uki.1_Missense_Mutation_p.T227M|P2RX2_uc001ukk.1_Missense_Mutation_p.T227M|P2RX2_uc001ukl.1_Missense_Mutation_p.T203M|P2RX2_uc001ukm.1_Missense_Mutation_p.T155M|P2RX2_uc001ukn.1_Missense_Mutation_p.T135M|P2RX2_uc009zyt.1_Missense_Mutation_p.T227M|P2RX2_uc001uko.1_Silent_p.H191H	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X2 isoform A	227	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AAGCGCTGCACGTTCCACGAG	0.627000												
GJB6	10804	broad.mit.edu	37	13	20797605	20797605	+	Silent	SNP	C	C	T	rs150075979	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:20797605C>T	uc001umz.3	-	3	568	c.15G>A	c.(13-15)ACG>ACA	p.T5T	GJB6_uc001unc.3_Silent_p.T5T|GJB6_uc001una.3_Silent_p.T5T|GJB6_uc001und.3_Silent_p.T5T|GJB6_uc001unb.3_Silent_p.T5T	NM_006783	NP_006774	O95452	CXB6_HUMAN	gap junction protein, beta 6	5	Cytoplasmic (Potential).		T -> M (in DFNA3B).		cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				ovary(1)	1		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		AAGTGTGCAGCGTCCCCCAAT	0.488000												
CRYL1	51084	broad.mit.edu	37	13	21006292	21006292	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:21006292A>G	uc001une.2	-	5	661	c.582T>C	c.(580-582)GTT>GTC	p.V194V	CRYL1_uc001unf.2_Silent_p.V172V|CRYL1_uc001ung.2_Silent_p.V172V|CRYL1_uc010tcp.1_Silent_p.V68V	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	lambda-crystallin	194					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		GGCGGTTCAGAACGAAGCCGG	0.502000												
XPO4	64328	broad.mit.edu	37	13	21396279	21396279	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:21396279A>G	uc001unq.3	-	8	1026	c.990T>C	c.(988-990)ACT>ACC	p.T330T		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	330					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ACCCATTGATAGTATTCAGTA	0.403000												
SACS	26278	broad.mit.edu	37	13	23905616	23905616	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:23905616A>G	uc001uon.2	-	10	12988	c.12399T>C	c.(12397-12399)GGT>GGC	p.G4133G	SACS_uc001uoo.2_Silent_p.G3986G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	4133					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTTTCTCACCAATCCTGT	0.378000												
SOHLH2	54937	broad.mit.edu	37	13	36776016	36776016	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:36776016C>T	uc001uvj.2	-	2	352	c.263G>A	c.(262-264)AGA>AAA	p.R88K	SOHLH2_uc010tei.1_Missense_Mutation_p.R165K	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	88					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGAAGTTTACCTAATTAACTT	0.348000												
RCBTB2	1102	broad.mit.edu	37	13	49076918	49076918	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:49076918A>G	uc001vch.2	-	11	1430	c.1059T>C	c.(1057-1059)ACT>ACC	p.T353T	RCBTB2_uc010tgg.1_Silent_p.T358T|RCBTB2_uc001vci.2_Silent_p.T329T|RCBTB2_uc010tgh.1_Silent_p.T79T|RCBTB2_uc001vcj.2_Silent_p.T305T|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Nonstop_Mutation_p.*282R	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	353	RCC1 6.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACACGTCGTCAGTGCAGGAGA	0.632000												
TBC1D4	9882	broad.mit.edu	37	13	75936261	75936261	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:75936261G>A	uc001vjl.1	-	2	1328	c.981C>T	c.(979-981)CAC>CAT	p.H327H	TBC1D4_uc010aer.2_Silent_p.H327H|TBC1D4_uc010aes.2_Silent_p.H327H	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	327	PID 2.					cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGCTGCCCTCGTGAACTCTCC	0.602000												
MYCBP2	23077	broad.mit.edu	37	13	77755927	77755927	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:77755927C>T	uc001vkf.2	-	34	4827	c.4736G>A	c.(4735-4737)CGA>CAA	p.R1579Q	MYCBP2_uc010aev.2_Missense_Mutation_p.R983Q	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	1579					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)		AACAATTGATCGTAGTAATAC	0.443000												
SLITRK5	26050	broad.mit.edu	37	13	88329003	88329003	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:88329003G>A	uc001vln.2	+	2	1579	c.1360G>A	c.(1360-1362)GGG>AGG	p.G454R	SLITRK5_uc010tic.1_Missense_Mutation_p.G213R	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	454	Extracellular (Potential).|LRR 8.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGCGCTTTCGGGGATCTCAC	0.597000												
UGGT2	55757	broad.mit.edu	37	13	96513099	96513099	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:96513099T>C	uc001vmt.2	-	32	3853	c.3683A>G	c.(3682-3684)AAA>AGA	p.K1228R		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1228	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3						TAGGACATCTTTTTCCTTTTT	0.254000												
RNF113B	140432	broad.mit.edu	37	13	98829237	98829237	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:98829237G>A	uc001vnk.2	-	1	285	c.254C>T	c.(253-255)GCG>GTG	p.A85V	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	85							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)			CTCAGGCGCCGCCTCCTCGCC	0.726000												
ERCC5	2073	broad.mit.edu	37	13	103514608	103514608	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:103514608G>A	uc001vpw.2	+	8	1552	c.1109G>A	c.(1108-1110)CGT>CAT	p.R370H	ERCC5_uc001vpu.1_Missense_Mutation_p.R824H|ERCC5_uc010tjb.1_Missense_Mutation_p.R370H|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R202H	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	370					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGCAGGCCCGTGGGAGGAAC	0.527000			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
MYO16	23026	broad.mit.edu	37	13	109779875	109779875	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:109779875C>T	uc001vqt.1	+	31	4088	c.3962C>T	c.(3961-3963)GCG>GTG	p.A1321V	MYO16_uc010agk.1_Missense_Mutation_p.A1343V|MYO16_uc010tjh.1_Missense_Mutation_p.A833V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	1321					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCCTCTCCGCGGCCAGGGAA	0.682000												
ING1	3621	broad.mit.edu	37	13	111371946	111371946	+	Silent	SNP	C	C	T	rs142623633		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:111371946C>T	uc001vri.2	+	2	1368	c.936C>T	c.(934-936)GAC>GAT	p.D312D	ING1_uc001vrf.2_Silent_p.D125D|ING1_uc001vrg.2_Silent_p.D100D|ING1_uc001vrh.2_Silent_p.D169D	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	312					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACGACCACGACGACGGCGCCT	0.662000												
GRK1	6011	broad.mit.edu	37	13	114324053	114324053	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:114324053G>A	uc010tkf.1	+	2	859	c.751G>A	c.(751-753)GTG>ATG	p.V251M		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	251	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CAGGTTCATCGTGTCTCTGGC	0.517000												
FAM70B	348013	broad.mit.edu	37	13	114507955	114507955	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:114507955C>T	uc001vuh.2	+	8	794	c.767C>T	c.(766-768)ACG>ATG	p.T256M		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	family with sequence similarity 70, member B	256						integral to membrane					0	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			TTCCGCCTGACGCCCGAGCCC	0.672000												
OR11H4	390442	broad.mit.edu	37	14	20711039	20711039	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:20711039G>A	uc010tld.1	+	1	89	c.89G>A	c.(88-90)TGC>TAC	p.C30Y		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	30	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TTCCCTGGTTGCTGGAAGATT	0.428000												
FLJ10357	55701	broad.mit.edu	37	14	21543173	21543173	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:21543173C>T	uc001vzp.2	+	3	1313	c.1284C>T	c.(1282-1284)TGC>TGT	p.C428C	FLJ10357_uc001vzn.1_Silent_p.C428C|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Intron	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	428					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)		TTCCAGAATGCCACCTGGTTA	0.552000												
PABPN1	8106	broad.mit.edu	37	14	23793419	23793419	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:23793419G>A	uc001wjk.2	+	6	2084	c.802G>A	c.(802-804)GCC>ACC	p.A268T	PABPN1_uc001wjh.3_Missense_Mutation_p.A295T|PABPN1_uc001wjj.2_Missense_Mutation_p.A268T	NM_004643	NP_004634	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	268	Necessary for homooligomerization.				modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle	cytoplasm|nucleoplasm|ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTACCGCGCCCGGACCAC	0.567000												
CPNE6	9362	broad.mit.edu	37	14	24546187	24546187	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24546187C>T	uc001wll.2	+	14	1364	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L	CPNE6_uc010tnv.1_Missense_Mutation_p.P477L|CPNE6_uc001wlm.2_Missense_Mutation_p.P247L|CPNE6_uc001wln.2_Missense_Mutation_p.P90L	NM_006032	NP_006023	O95741	CPNE6_HUMAN	copine 6	422	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0184)		GTGGCTGAGCCGGCCCAGCGG	0.637000												
FAM158A	51016	broad.mit.edu	37	14	24610340	24610340	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24610340G>A	uc001wmi.2	-	2	337	c.174C>T	c.(172-174)GTC>GTT	p.V58V		NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN	hypothetical protein LOC51016	58											0						CCTCCAACATGACGGACAGGG	0.652000											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SDR39U1	56948	broad.mit.edu	37	14	24909989	24909989	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24909989C>A	uc001wpm.2	-	5	504	c.472G>T	c.(472-474)GGG>TGG	p.G158W	KHNYN_uc010tpc.1_3'UTR|KHNYN_uc001wph.3_3'UTR|KHNYN_uc010alw.2_3'UTR|SDR39U1_uc001wpi.2_Missense_Mutation_p.G50W|SDR39U1_uc001wpj.2_Missense_Mutation_p.G76W|SDR39U1_uc001wpk.2_Missense_Mutation_p.G50W|SDR39U1_uc001wpl.2_Missense_Mutation_p.G103W|SDR39U1_uc001wpn.2_5'UTR|uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U,	184							binding			pancreas(1)	1						CGTTTCTCACCTGAGCGCACC	0.532000												
CTSG	1511	broad.mit.edu	37	14	25042923	25042923	+	Silent	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:25042923T>G	uc001wpq.2	-	5	725	c.688A>C	c.(688-690)AGG>CGG	p.R230R		NM_001911	NP_001902	P08311	CATG_HUMAN	cathepsin G preproprotein	230	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			ovary(2)	2				GBM - Glioblastoma multiforme(265;0.0269)		CTTGAGACCCTGGTGAAGACT	0.552000												
HECTD1	25831	broad.mit.edu	37	14	31592235	31592235	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:31592235C>T	uc001wrc.1	-	27	5489	c.5000G>A	c.(4999-5001)CGT>CAT	p.R1667H	HECTD1_uc001wra.1_Translation_Start_Site|HECTD1_uc001wrb.1_Translation_Start_Site|HECTD1_uc001wrd.1_Missense_Mutation_p.R1135H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1667					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTACTGGCACGGCAGCTATC	0.393000												
NKX2-8	26257	broad.mit.edu	37	14	37051560	37051560	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:37051560C>T	uc001wtx.2	-	1	227	c.35G>A	c.(34-36)CGC>CAC	p.R12H		NM_014360	NP_055175	O15522	NKX28_HUMAN	NK2 homeobox 8	12					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TAGAAGGCTGCGCACGGTGAA	0.726000												
FSCB	84075	broad.mit.edu	37	14	44974339	44974339	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:44974339C>G	uc001wvn.2	-	1	2161	c.1852G>C	c.(1852-1854)GCC>CCC	p.A618P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	618	Ala-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		TCAGCGGGGGCCTCCTCAGCT	0.617000												
GPR135	64582	broad.mit.edu	37	14	59930838	59930838	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:59930838G>A	uc010apj.2	-	1	1222	c.1107C>T	c.(1105-1107)AGC>AGT	p.S369S	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	369	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGGCCACCACGCTGAGGAGCG	0.657000												
GPR135	64582	broad.mit.edu	37	14	59930957	59930957	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:59930957C>T	uc010apj.2	-	1	1103	c.988G>A	c.(988-990)GCC>ACC	p.A330T	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	330	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		ACGGTGGTGGCCGTGCGCACC	0.672000												
RTN1	6252	broad.mit.edu	37	14	60074118	60074118	+	Missense_Mutation	SNP	C	C	T	rs143124571		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:60074118C>T	uc001xen.1	-	4	2067	c.1858G>A	c.(1858-1860)GTG>ATG	p.V620M	RTN1_uc001xem.1_Missense_Mutation_p.V200M|RTN1_uc001xek.1_Missense_Mutation_p.V52M|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.V37M	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	620	Reticulon.|Helical; (Potential).				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ACGCTCACCACGCTGAACTGG	0.557000												
SNAPC1	6617	broad.mit.edu	37	14	62234021	62234021	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:62234021G>A	uc001xft.2	+	3	484	c.380G>A	c.(379-381)AGG>AAG	p.R127K		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex,	127	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TATATTTTTAGGAAGCTACGA	0.343000												
SYNE2	23224	broad.mit.edu	37	14	64518335	64518335	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:64518335A>G	uc001xgm.2	+	48	7934	c.7704A>G	c.(7702-7704)GAA>GAG	p.E2568E	SYNE2_uc001xgl.2_Silent_p.E2568E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2568	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATCCATAGAAAAAGAGAAAG	0.323000												
GPHN	10243	broad.mit.edu	37	14	66975270	66975270	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:66975270A>G	uc001xiy.2	+	1	1146	c.25A>G	c.(25-27)ACT>GCT	p.T9A	GPHN_uc001xiw.2_Missense_Mutation_p.T9A|GPHN_uc001xix.2_Missense_Mutation_p.T9A|GPHN_uc010tss.1_Missense_Mutation_p.T9A|GPHN_uc010tst.1_Missense_Mutation_p.T9A|uc010tsr.1_5'Flank	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	gephyrin isoform 2	9					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AATGATCCTTACTAACCACGA	0.622000			T	MLL	AL							
C14orf115	55237	broad.mit.edu	37	14	74823869	74823869	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:74823869T>C	uc001xpw.3	+	2	574	c.383T>C	c.(382-384)GTG>GCG	p.V128A		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	128					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)		GACTCCAAAGTGATGCTGCAG	0.637000												
RPS6KL1	83694	broad.mit.edu	37	14	75376342	75376342	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:75376342A>G	uc010tux.1	-	7	1702	c.1174T>C	c.(1174-1176)TGG>CGG	p.W392R	RPS6KL1_uc001xqx.1_Missense_Mutation_p.W144R|RPS6KL1_uc001xqw.2_Missense_Mutation_p.W361R|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	392	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCTGCCGCCCACTGCTTCACC	0.687000												
EML5	161436	broad.mit.edu	37	14	89123848	89123848	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:89123848T>C	uc001xxg.2	-	28	4064	c.3878_splice	c.e28-1	p.G1293_splice	EML5_uc001xxf.2_Splice_Site_p.G88_splice|EML5_uc001xxh.1_Splice_Site_p.G432_splice	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like							cytoplasm|microtubule				ovary(3)	3						TGTCATAGCCTACAATAAAAA	0.264000												
FBLN5	10516	broad.mit.edu	37	14	92353624	92353624	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:92353624C>T	uc001xzx.3	-	7	1125	c.652G>A	c.(652-654)GTG>ATG	p.V218M	FBLN5_uc010aud.2_Missense_Mutation_p.V223M|FBLN5_uc010aue.2_Missense_Mutation_p.V259M	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	fibulin 5 precursor	218	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)				CAGGTTTGCACGCAGGGGTTC	0.517000												
TNFAIP2	7127	broad.mit.edu	37	14	103598068	103598068	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:103598068C>T	uc001ymm.1	+	7	1522	c.1391C>T	c.(1390-1392)ACC>ATC	p.T464I	TNFAIP2_uc010awo.1_Missense_Mutation_p.T176I|TNFAIP2_uc010txz.1_Missense_Mutation_p.T133I|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	464					angiogenesis|cell differentiation	extracellular space				central_nervous_system(1)	1		Melanoma(154;0.155)	Epithelial(46;0.191)			GGCTTTGACACCCTGCTCCAG	0.642000												
AHNAK2	113146	broad.mit.edu	37	14	105411993	105411993	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:105411993G>A	uc010axc.1	-	7	9915	c.9795C>T	c.(9793-9795)CCC>CCT	p.P3265P	AHNAK2_uc001ypx.2_Silent_p.P3165P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3265						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACGTCGGGGGCCGTCA	0.627000												
ATP10A	57194	broad.mit.edu	37	15	26107859	26107859	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:26107859C>T	uc010ayu.2	-	1	491	c.385G>A	c.(385-387)GAG>AAG	p.E129K	ATP10A_uc001zax.2_RNA	NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	129	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGTAGTCCTCCCACAGGTCC	0.687000												
HERC2	8924	broad.mit.edu	37	15	28493822	28493822	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:28493822A>G	uc001zbj.2	-	21	3217	c.3111T>C	c.(3109-3111)TGT>TGC	p.C1037C		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1037					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAAGTCCAGACATGATGAAA	0.373000												
PPP1R14D	54866	broad.mit.edu	37	15	41120845	41120845	+	Translation_Start_Site	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:41120845T>C	uc001zmy.2	-	1	63	c.-5A>G	c.(-7--3)ATACT>ATGCT		PPP1R14D_uc001zmz.2_Translation_Start_Site	NM_017726	NP_060196	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory subunit 14D						regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCATGGAAGTATTGGTCTGG	0.552000												
ZFP106	64397	broad.mit.edu	37	15	42717190	42717190	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:42717190C>A	uc001zpw.2	-	13	5298	c.4963G>T	c.(4963-4965)GGC>TGC	p.G1655C	ZFP106_uc001zpu.2_Missense_Mutation_p.G753C|ZFP106_uc001zpv.2_Missense_Mutation_p.G840C|ZFP106_uc001zpx.2_Missense_Mutation_p.G883C	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	1655	WD 3.					nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCCCGAGGGCCATGGCATTCA	0.468000												
CDAN1	146059	broad.mit.edu	37	15	43022830	43022830	+	Missense_Mutation	SNP	G	G	A	rs80338696		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:43022830G>A	uc001zql.2	-	14	2257	c.2140C>T	c.(2140-2142)CGG>TGG	p.R714W	CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.T39T	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	714			R -> W (in CDA1).			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)		AAGATGTCCCGGTAATATTCC	0.597000												
PDIA3	2923	broad.mit.edu	37	15	44063406	44063406	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:44063406A>G	uc001zsu.2	+	13	1656	c.1508A>G	c.(1507-1509)GAG>GGG	p.E503G	PDIA3_uc010bdp.2_Missense_Mutation_p.E483G|PDIA3_uc010ued.1_Missense_Mutation_p.E277G	NM_005313	NP_005304	P30101	PDIA3_HUMAN	protein disulfide-isomerase A3 precursor	503	Prevents secretion from ER (By similarity).				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)|skin(1)	2		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AAGGCACAGGAGGATCTCTAA	0.418000												
DUOX1	53905	broad.mit.edu	37	15	45431269	45431269	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:45431269A>G	uc001zus.1	+	12	1465	c.1119A>G	c.(1117-1119)CCA>CCG	p.P373P	DUOX1_uc001zut.1_Silent_p.P373P|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	373	Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TAAAGCACCCAAGCCTACAAA	0.567000												
SEMA6D	80031	broad.mit.edu	37	15	48056471	48056471	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:48056471G>A	uc010bek.2	+	11	1426	c.1066G>A	c.(1066-1068)GCA>ACA	p.A356T	SEMA6D_uc001zvw.2_Missense_Mutation_p.A356T|SEMA6D_uc001zvx.1_Missense_Mutation_p.A356T|SEMA6D_uc001zvy.2_Missense_Mutation_p.A356T|SEMA6D_uc001zvz.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwa.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwb.2_Missense_Mutation_p.A356T|SEMA6D_uc001zwc.2_Missense_Mutation_p.A356T	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor	356	Sema.|Extracellular (Potential).				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTTGGACAGCAGTTCCCGA	0.423000												
FBN1	2200	broad.mit.edu	37	15	48762843	48762843	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:48762843C>T	uc001zwx.1	-	36	4775	c.4447G>A	c.(4447-4449)GGG>AGG	p.G1483R	FBN1_uc010beo.1_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1483	EGF-like 25; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGCAGTTCCCGCCGCTTCTG	0.582000												
AP4E1	23431	broad.mit.edu	37	15	51260544	51260544	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:51260544C>T	uc001zyx.1	+	15	1966	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C		NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1	646					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity				0				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCCCCATCAACGCCAGGAGGA	0.378000												
DMXL2	23312	broad.mit.edu	37	15	51792058	51792058	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:51792058T>C	uc002abf.2	-	18	3588	c.3363A>G	c.(3361-3363)CAA>CAG	p.Q1121Q	DMXL2_uc010ufy.1_Silent_p.Q1121Q|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1121						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		GATGAATTGTTTGTTCTAAAA	0.378000												
WDR72	256764	broad.mit.edu	37	15	54005019	54005019	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:54005019A>G	uc002acj.2	-	7	703	c.661T>C	c.(661-663)TGC>CGC	p.C221R	WDR72_uc010bfi.1_Missense_Mutation_p.C221R	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	221										lung(1)|skin(1)	2				all cancers(107;0.0511)		GTATATGTGCAAAATCGAATT	0.308000												
RAB27A	5873	broad.mit.edu	37	15	55497750	55497750	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:55497750C>T	uc002aco.2	-	7	854	c.621G>A	c.(619-621)ACG>ACA	p.T207T	RAB27A_uc002acr.2_Silent_p.T207T|RAB27A_uc002acp.2_Silent_p.T207T|RAB27A_uc002acq.2_Silent_p.T207T	NM_183234	NP_899057	P51159	RB27A_HUMAN	Ras-related protein Rab-27A	207					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			ovary(1)	1				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TTAACTGATCCGTAGAGGCAT	0.483000												
ANXA2	302	broad.mit.edu	37	15	60674549	60674549	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:60674549T>G	uc002agn.2	-	4	300	c.140A>C	c.(139-141)AAG>ACG	p.K47T	ANXA2_uc002agk.2_Missense_Mutation_p.K47T|ANXA2_uc002agl.2_Missense_Mutation_p.K47T|ANXA2_uc002agm.2_Missense_Mutation_p.K65T|ANXA2_uc010uhd.1_RNA|ANXA2_uc010bgj.2_Missense_Mutation_p.K47T	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN	annexin A2 isoform 2	47	Annexin 1.				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			ovary(1)	1					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ACCTTTGGTCTTGATGGCTGT	0.448000												
DPP8	54878	broad.mit.edu	37	15	65771345	65771345	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:65771345A>G	uc002aov.2	-	11	2955	c.1377T>C	c.(1375-1377)AGT>AGC	p.S459S	DPP8_uc002aow.2_Silent_p.S459S|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Silent_p.S443S|DPP8_uc002aoy.2_Silent_p.S459S|DPP8_uc002aoz.2_Silent_p.S443S|DPP8_uc010bhj.2_Silent_p.S459S|DPP8_uc002apa.2_Silent_p.S356S|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	dipeptidyl peptidase 8 isoform 1	459					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1						CCTCTTCGTGACTTTGGGGAA	0.289000												
PML	5371	broad.mit.edu	37	15	74336586	74336586	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:74336586C>T	uc002awv.2	+	9	2026	c.1886C>T	c.(1885-1887)GCG>GTG	p.A629V	PML_uc002awu.2_Missense_Mutation_p.A581V|PML_uc010ule.1_Missense_Mutation_p.A190V	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	629					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CAGCTGGCTGCGGTGAACCGG	0.627000			T	RARA|PAX5	APL|ALL							
SIN3A	25942	broad.mit.edu	37	15	75687179	75687179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:75687179G>A	uc002bai.2	-	14	2378	c.2119C>T	c.(2119-2121)CGA>TGA	p.R707*	SIN3A_uc002baj.2_Nonsense_Mutation_p.R707*|SIN3A_uc010uml.1_Nonsense_Mutation_p.R707*	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	transcriptional co-repressor Sin3A	707	Interactions with HDAC1 and ARID4B.|Interaction with NCOR1 (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5						TGAGCTTCTCGCCATTCTTCC	0.423000												
ZNF592	9640	broad.mit.edu	37	15	85341639	85341639	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:85341639C>T	uc002bld.2	+	7	3006	c.2670C>T	c.(2668-2670)GGC>GGT	p.G890G	ZNF592_uc010upb.1_RNA	NM_014630	NP_055445	Q92610	ZN592_HUMAN	zinc finger protein 592	890					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(2)	6			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGCAGGTGGGCGTCTTCAAGT	0.532000												
ACAN	176	broad.mit.edu	37	15	89398171	89398171	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:89398171G>T	uc010upo.1	+	12	2729	c.2355G>T	c.(2353-2355)GAG>GAT	p.E785D	ACAN_uc010upp.1_Missense_Mutation_p.E785D|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	785					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)			CTGCCTCAGAGGAACCATCCC	0.582000												
CHD2	1106	broad.mit.edu	37	15	93528850	93528850	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:93528850G>A	uc002bsp.2	+	26	3935	c.3360G>A	c.(3358-3360)CCG>CCA	p.P1120P	CHD2_uc002bso.1_Silent_p.P1120P	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1120					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGGGCGTCCGAGGAGTGTGC	0.532000												
MCTP2	55784	broad.mit.edu	37	15	94983445	94983445	+	Missense_Mutation	SNP	T	T	C	rs34897570		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:94983445T>C	uc002btj.2	+	17	2191	c.2126T>C	c.(2125-2127)ATC>ACC	p.I709T	MCTP2_uc010boj.2_Missense_Mutation_p.I438T|MCTP2_uc010bok.2_Intron|MCTP2_uc002btl.2_Missense_Mutation_p.I297T	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	709	Helical; (Potential).				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTATATATGATCCCCTTGGCA	0.413000												
LINS1	55180	broad.mit.edu	37	15	101110170	101110170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:101110170G>T	uc002bwe.2	-	8	1838	c.1547C>A	c.(1546-1548)TCA>TAA	p.S516*	LINS1_uc002bwd.2_Nonsense_Mutation_p.S103*|LINS1_uc002bwf.2_Nonsense_Mutation_p.S516*|LINS1_uc002bwg.2_Nonsense_Mutation_p.S516*|LINS1_uc002bwh.2_Nonsense_Mutation_p.S516*	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	516											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ACAGGTTTCTGATGAAATCAA	0.299000												
NME3	4832	broad.mit.edu	37	16	1820969	1820969	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:1820969C>T	uc002cmm.2	-	4	480	c.305G>A	c.(304-306)CGC>CAC	p.R102H	NME3_uc010brv.2_RNA|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_002513	NP_002504	Q13232	NDK3_HUMAN	nucleoside diphosphate kinase 3	102					apoptosis|CTP biosynthetic process|GTP biosynthetic process|induction of apoptosis|UTP biosynthetic process		ATP binding|metal ion binding|nucleoside diphosphate kinase activity				0						CCGCGAGGTGCGCACCACGTC	0.726000												
HS3ST6	64711	broad.mit.edu	37	16	1961987	1961987	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:1961987G>A	uc002cnf.2	-	2	540	c.540C>T	c.(538-540)CAC>CAT	p.H180H		NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine)	180											0						GGCCCAGGCCGTGGCGGAAGG	0.716000												
CCNF	899	broad.mit.edu	37	16	2481176	2481176	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:2481176G>A	uc002cqd.1	+	2	150	c.62G>A	c.(61-63)CGA>CAA	p.R21Q	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	21	Nuclear localization signal 1.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				CCTACAAAGCGAAGAATAAGG	0.443000												
CCNF	899	broad.mit.edu	37	16	2489443	2489443	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:2489443C>T	uc002cqd.1	+	7	772	c.684C>T	c.(682-684)AGC>AGT	p.S228S	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	228					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)				TCTGGGAAAGCGACAGGAGGA	0.552000												
MMP25	64386	broad.mit.edu	37	16	3100297	3100297	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3100297C>T	uc002cth.2	+	4	648	c.411C>T	c.(409-411)ACC>ACT	p.T137T	MMP25_uc002cti.1_Silent_p.T73T	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	matrix metalloproteinase 25 preproprotein	137					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0						GCCAGGAGACCGTGCGGGTCC	0.637000												
NLRC3	197358	broad.mit.edu	37	16	3613679	3613679	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3613679A>C	uc010btn.2	-	5	1670	c.1259T>G	c.(1258-1260)ATG>AGG	p.M420R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	420	NACHT.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAACGCCTTCATGTCTTGCTC	0.592000												
BTBD12	84464	broad.mit.edu	37	16	3641292	3641292	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3641292C>T	uc002cvp.2	-	12	2974	c.2347G>A	c.(2347-2349)GTT>ATT	p.V783I		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	783	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						CACAGGTGAACGAGCTCACTC	0.587000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia		OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)
A2BP1	54715	broad.mit.edu	37	16	7680608	7680608	+	Missense_Mutation	SNP	C	C	T	rs145006582		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:7680608C>T	uc002cys.2	+	11	1668	c.680C>T	c.(679-681)ACG>ATG	p.T227M	A2BP1_uc010buf.1_Missense_Mutation_p.T227M|A2BP1_uc002cyr.1_Missense_Mutation_p.T226M|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Missense_Mutation_p.T270M|A2BP1_uc010uya.1_Missense_Mutation_p.T184M|A2BP1_uc002cyv.1_Missense_Mutation_p.T227M|A2BP1_uc010uyb.1_Missense_Mutation_p.T227M|A2BP1_uc002cyw.2_Missense_Mutation_p.T247M|A2BP1_uc002cyy.2_Missense_Mutation_p.T247M|A2BP1_uc002cyx.2_Missense_Mutation_p.T247M|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	227					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.T247M(1)			0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TTCGTAGGCACGGTCCTGTTG	0.498000												
KIAA0430	9665	broad.mit.edu	37	16	15703435	15703435	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:15703435T>C	uc002ddr.2	-	20	4092	c.3899A>G	c.(3898-3900)TAC>TGC	p.Y1300C	KIAA0430_uc002ddq.2_Missense_Mutation_p.Y1134C|KIAA0430_uc010uzv.1_Missense_Mutation_p.Y1296C|KIAA0430_uc010uzw.1_Missense_Mutation_p.Y1299C	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1299						peroxisome	nucleotide binding|RNA binding				0						AAACCCATAGTACGCAAGTTT	0.388000												
SMG1	23049	broad.mit.edu	37	16	18846365	18846365	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:18846365G>A	uc002dfm.2	-	49	8542	c.8179C>T	c.(8179-8181)CGC>TGC	p.R2727C	SMG1_uc010bwb.2_Missense_Mutation_p.R2587C|SMG1_uc010bwa.2_Missense_Mutation_p.R1458C	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2727					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						TGTTTCAAGCGTTCCACTTGT	0.458000												
GDE1	51573	broad.mit.edu	37	16	19514884	19514884	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:19514884T>C	uc002dgh.2	-	6	1068	c.904A>G	c.(904-906)AAT>GAT	p.N302D	GDE1_uc002dgi.2_Missense_Mutation_p.N192D	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	302	Cytoplasmic (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3						TCAAAGGTATTAACAGTCCAA	0.438000											OREG0023659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPRC5B	51704	broad.mit.edu	37	16	19883731	19883731	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:19883731C>T	uc002dgt.2	-	2	545	c.437G>A	c.(436-438)CGC>CAC	p.R146H	GPRC5B_uc010vav.1_Missense_Mutation_p.R172H	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	146	Helical; Name=3; (Potential).									lung(1)|breast(1)|skin(1)	3						CCTCCGCACGCGCCATGCCTG	0.667000												
DNAH3	55567	broad.mit.edu	37	16	20976175	20976175	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:20976175C>T	uc010vbe.1	-	53	9031	c.9031G>A	c.(9031-9033)GCT>ACT	p.A3011T	DNAH3_uc010vbd.1_Missense_Mutation_p.A446T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3011					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		ACTGTAAAAGCGCCCAGGTAA	0.532000												
POLR3E	55718	broad.mit.edu	37	16	22320299	22320299	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:22320299A>G	uc002dkk.2	+	5	375	c.219A>G	c.(217-219)AAA>AAG	p.K73K	POLR3E_uc002dkj.1_Silent_p.K73K|POLR3E_uc002dkm.2_Silent_p.K37K|POLR3E_uc010vbr.1_Silent_p.K73K|POLR3E_uc002dkl.2_Silent_p.K73K|POLR3E_uc010vbs.1_Silent_p.K37K|POLR3E_uc010vbt.1_Silent_p.K17K	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	RNA polymerase III polypeptide E	73					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)		GCCGCAGCAAAGGGGAGCAGA	0.622000												
XPO6	23214	broad.mit.edu	37	16	28112798	28112798	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:28112798C>T	uc002dpa.1	-	23	3758	c.3257G>A	c.(3256-3258)CGG>CAG	p.R1086Q	XPO6_uc002dpb.1_Missense_Mutation_p.R1072Q|XPO6_uc010vcp.1_Missense_Mutation_p.R1085Q	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	1086					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						CTTGAAATTCCGCCCCAGCAC	0.587000												
C16orf92	146378	broad.mit.edu	37	16	30035069	30035069	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:30035069C>T	uc002dvs.2	+	2	173	c.152C>T	c.(151-153)ACG>ATG	p.T51M	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.T29M	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN	hypothetical protein LOC146378 isoform 2	51						integral to membrane					0						AAGCGTGCCACGGCGTCAGCC	0.597000												
PHKG2	5261	broad.mit.edu	37	16	30768156	30768156	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:30768156G>A	uc002dzk.1	+	10	1052	c.959G>A	c.(958-960)CGA>CAA	p.R320Q	PHKG2_uc002dzi.1_Missense_Mutation_p.R324Q|PHKG2_uc002dzj.1_Missense_Mutation_p.R218Q	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	320	Calmodulin-binding (domain-N) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			GCTGCTGGACGAGTGGCCCTA	0.607000												
MYLK3	91807	broad.mit.edu	37	16	46763518	46763518	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:46763518G>A	uc002eei.3	-	6	1766	c.1650C>T	c.(1648-1650)AGC>AGT	p.S550S	MYLK3_uc010vge.1_Silent_p.S209S|MYLK3_uc002eej.1_Silent_p.S209S	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	550	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTCCTTGGCGCTCTTCACTT	0.622000												
RPGRIP1L	23322	broad.mit.edu	37	16	53692344	53692344	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:53692344T>G	uc002ehp.2	-	12	1447	c.1383A>C	c.(1381-1383)GAA>GAC	p.E461D	RPGRIP1L_uc002eho.3_Missense_Mutation_p.E461D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.E461D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.E461D|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.E461D	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	461	Potential.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				GTAGGAGAGCTTCACTCAATT	0.343000												
CDH16	1014	broad.mit.edu	37	16	66946430	66946430	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:66946430C>T	uc002eql.2	-	11	1409	c.1336G>A	c.(1336-1338)GCC>ACC	p.A446T	CDH16_uc010cdy.2_Missense_Mutation_p.A446T|CDH16_uc002eqm.2_Missense_Mutation_p.A349T	NM_004062	NP_004053	O75309	CAD16_HUMAN	cadherin 16 precursor	446	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|upper_aerodigestive_tract(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AACTCAGGGGCGTGATCATTG	0.577000												
ELMO3	79767	broad.mit.edu	37	16	67234150	67234150	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:67234150G>A	uc002esa.2	+	5	501	c.458G>A	c.(457-459)CGC>CAC	p.R153H	ELMO3_uc002esb.2_Missense_Mutation_p.R136H|ELMO3_uc002esc.2_5'UTR	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	100					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)		CCTGAAGGGCGCCGGGAAGCC	0.607000												
DUS2L	54920	broad.mit.edu	37	16	68109393	68109393	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:68109393T>C	uc002evi.2	+	14	1217	c.1068T>C	c.(1066-1068)GCT>GCC	p.A356A	DUS2L_uc002evj.2_Silent_p.A356A|DUS2L_uc010vkk.1_Silent_p.A321A|DUS2L_uc010cez.2_Silent_p.A269A	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2-like, SMM1 homolog	356					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TTAAGATGGCTGTCAAGTTTG	0.597000												
PRMT7	54496	broad.mit.edu	37	16	68373281	68373281	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:68373281C>T	uc002evy.1	+	8	837	c.561C>T	c.(559-561)TCC>TCT	p.S187S	PRMT7_uc002evx.1_Silent_p.S187S|PRMT7_uc010vlg.1_Silent_p.S137S|PRMT7_uc002evz.1_Silent_p.S33S	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	187					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TGGTGGAGTCCGGGAGGATGT	0.522000												
CHST4	10164	broad.mit.edu	37	16	71571181	71571181	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:71571181G>A	uc002fan.2	+	2	782	c.601G>A	c.(601-603)GTG>ATG	p.V201M	CHST4_uc002fao.2_Missense_Mutation_p.V201M	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	201	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						CCTGCATATCGTGCACCTGGT	0.602000												
RFWD3	55159	broad.mit.edu	37	16	74670377	74670377	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:74670377C>T	uc002fda.2	-	8	1391	c.1293G>A	c.(1291-1293)CAG>CAA	p.Q431Q	RFWD3_uc010cgq.2_Silent_p.Q431Q	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	431					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|breast(1)	3						TGTGCTTGTGCTGGCCCTGGC	0.517000												
ADAMTS18	170692	broad.mit.edu	37	16	77353960	77353960	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:77353960C>T	uc002ffc.3	-	16	2737	c.2318G>A	c.(2317-2319)GGC>GAC	p.G773D	ADAMTS18_uc010chc.1_Missense_Mutation_p.G361D|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G469D	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	773	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCTTCGGGCGCCAGCTGGAAT	0.507000												
KIAA1609	57707	broad.mit.edu	37	16	84522882	84522882	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:84522882G>A	uc002fib.2	-	4	636	c.529_splice	c.e4+1	p.D177_splice	KIAA1609_uc010vod.1_Splice_Site_p.D150_splice|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707								protein binding			ovary(2)	2						ACGCACACTTGCCTTGCAGCT	0.408000												
KIAA1609	57707	broad.mit.edu	37	16	84531619	84531619	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:84531619T>C	uc002fib.2	-	2	181	c.74A>G	c.(73-75)GAT>GGT	p.D25G	KIAA1609_uc010vod.1_5'UTR|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	25							protein binding			ovary(2)	2						AAACAATTGATCAATCTCTGC	0.473000												
MTHFSD	64779	broad.mit.edu	37	16	86565765	86565765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:86565765C>T	uc002fjn.2	-	8	1055	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	MTHFSD_uc010voo.1_Missense_Mutation_p.R315Q|MTHFSD_uc002fjo.2_Missense_Mutation_p.R172Q|MTHFSD_uc002fjm.2_Missense_Mutation_p.R334Q|MTHFSD_uc010vop.1_Missense_Mutation_p.R172Q|MTHFSD_uc010voq.1_Missense_Mutation_p.R334Q|MTHFSD_uc010vor.1_Missense_Mutation_p.R335Q	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	335	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						CCAGGTGAGCCGCAGGGGCAC	0.706000												
CBFA2T3	863	broad.mit.edu	37	16	88958765	88958765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:88958765C>T	uc002fmm.1	-	4	694	c.508G>A	c.(508-510)GGG>AGG	p.G170R	CBFA2T3_uc002fml.1_Missense_Mutation_p.G84R|CBFA2T3_uc010cif.1_Missense_Mutation_p.G109R|CBFA2T3_uc002fmn.1_Missense_Mutation_p.G145R	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	170	Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TGCCGGGCCCCGCAGGCTGGG	0.647000			T	RUNX1	AML							
MYO1C	4641	broad.mit.edu	37	17	1381382	1381382	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:1381382G>A	uc002fsp.2	-	12	1620	c.1400C>T	c.(1399-1401)GCG>GTG	p.A467V	MYO1C_uc002fsn.2_Missense_Mutation_p.A448V|MYO1C_uc002fso.2_Missense_Mutation_p.A432V|MYO1C_uc010vqj.1_Missense_Mutation_p.A432V|MYO1C_uc010vqk.1_Missense_Mutation_p.A443V	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	467	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCACACACCGCGATGCCCTC	0.632000												
ANKFY1	51479	broad.mit.edu	37	17	4075887	4075887	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:4075887A>G	uc002fxq.1	-	22	3141	c.3103T>C	c.(3103-3105)TAT>CAT	p.Y1035H	ANKFY1_uc002fxn.2_Missense_Mutation_p.Y1077H|ANKFY1_uc002fxo.2_Missense_Mutation_p.Y1036H|ANKFY1_uc002fxp.2_Missense_Mutation_p.Y1034H|ANKFY1_uc010ckp.2_Missense_Mutation_p.Y977H	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1035	ANK 20.					endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TCCAGAGGATACCCCGGCATG	0.532000												
NLRP1	22861	broad.mit.edu	37	17	5462048	5462048	+	Silent	SNP	C	C	T	rs139136010		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:5462048C>T	uc002gci.2	-	4	2523	c.1968G>A	c.(1966-1968)ACG>ACA	p.T656T	NLRP1_uc002gcg.1_Silent_p.T656T|NLRP1_uc002gck.2_Silent_p.T656T|NLRP1_uc002gcj.2_Silent_p.T656T|NLRP1_uc002gcl.2_Silent_p.T656T|NLRP1_uc002gch.3_Silent_p.T656T|NLRP1_uc010clh.2_Silent_p.T656T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1 isoform 1	656					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9		Colorectal(1115;3.48e-05)				ATGCTTCTAGCGTCTTTTCCA	0.448000												
RCVRN	5957	broad.mit.edu	37	17	9804342	9804342	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:9804342C>T	uc002gme.1	-	2	644	c.457G>A	c.(457-459)GAG>AAG	p.E153K		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	153	EF-hand 4.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0						CAGATCTTCTCGGCTCGCTTT	0.433000												
MYH2	4620	broad.mit.edu	37	17	10428368	10428368	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:10428368A>G	uc010coi.2	-	34	4805	c.4677T>C	c.(4675-4677)CAT>CAC	p.H1559H	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.H1559H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1559	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TTCCCTCTTCATGTTCAAGAG	0.408000												
NCOR1	9611	broad.mit.edu	37	17	15971282	15971282	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:15971282G>A	uc002gpo.2	-	32	4907	c.4667C>T	c.(4666-4668)GCA>GTA	p.A1556V	NCOR1_uc002gpn.2_Missense_Mutation_p.A1572V|NCOR1_uc002gpm.2_Missense_Mutation_p.A77V|NCOR1_uc010vwb.1_Missense_Mutation_p.A140V|NCOR1_uc010coy.2_Missense_Mutation_p.A464V|NCOR1_uc010vwc.1_Missense_Mutation_p.A367V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	1556	Interaction with ETO.|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AACCTCGCCTGCAGTGCTGCC	0.542000												
RAI1	10743	broad.mit.edu	37	17	17698048	17698048	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:17698048C>T	uc002grm.2	+	3	2255	c.1786C>T	c.(1786-1788)CGG>TGG	p.R596W	RAI1_uc002grn.1_Missense_Mutation_p.R596W	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	596						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGACTGTCCGCGGCTGCTGCT	0.637000												
MYO15A	51168	broad.mit.edu	37	17	18022386	18022386	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:18022386G>A	uc010vxh.1	+	2	610	c.272G>A	c.(271-273)CGC>CAC	p.R91H		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	91	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					ACGCAGATGCGCATGGGCAAG	0.662000												
MYO15A	51168	broad.mit.edu	37	17	18054840	18054840	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:18054840A>G	uc010vxh.1	+	39	8124	c.7786A>G	c.(7786-7788)AGG>GGG	p.R2596G	MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2596	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)					TGAGGCCCTCAGGTCAGCACT	0.632000												
SMCR7	125170	broad.mit.edu	37	17	18167652	18167652	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:18167652C>T	uc002gst.2	+	4	1150	c.939C>T	c.(937-939)GAC>GAT	p.D313D	SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Silent_p.D324D	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	313						integral to membrane	protein binding				0	all_neural(463;0.228)					TCGATGCTGACGACCGCCTCC	0.682000												
KSR1	8844	broad.mit.edu	37	17	25909964	25909964	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:25909964G>A	uc010crg.2	+	5	847	c.402G>A	c.(400-402)CCG>CCA	p.P134P	KSR1_uc002gzj.1_RNA	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	269					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCATCACCCCGCCCACCACAC	0.697000												
ERAL1	26284	broad.mit.edu	37	17	27182060	27182060	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:27182060C>T	uc002hcy.1	+	1	18	c.8C>T	c.(7-9)GCC>GTC	p.A3V	ERAL1_uc002hcx.1_Missense_Mutation_p.A3V|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1	3					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			skin(1)	1	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTAATGGCTGCCCCCAGCTGG	0.612000												
ACACA	31	broad.mit.edu	37	17	35641758	35641758	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:35641758C>T	uc002hnm.2	-	4	532	c.341G>A	c.(340-342)GGA>GAA	p.G114E	ACACA_uc002hnk.2_Missense_Mutation_p.G36E|ACACA_uc002hnl.2_Missense_Mutation_p.G56E|ACACA_uc002hnn.2_Missense_Mutation_p.G114E|ACACA_uc002hno.2_Missense_Mutation_p.G151E|ACACA_uc010cuz.2_Missense_Mutation_p.G114E|ACACA_uc002hnq.2_Missense_Mutation_p.G36E|ACACA_uc002hnp.1_RNA	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	114					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CACTTTATTTCCCCCAAAGCG	0.398000												
WIPF2	147179	broad.mit.edu	37	17	38412743	38412743	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:38412743C>T	uc002hug.1	+	2	272	c.32C>T	c.(31-33)CCT>CTT	p.P11L	WIPF2_uc010cwv.1_Missense_Mutation_p.P11L|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_Intron|WIPF2_uc002hui.1_Missense_Mutation_p.P11L|WIPF2_uc010cwx.1_Missense_Mutation_p.P11L|WIPF2_uc010cwy.1_Missense_Mutation_p.P11L	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	11	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						CCACCCCCACCTGGTCCTCCT	0.483000										HNSCC(43;0.11)		
FKBP10	60681	broad.mit.edu	37	17	39977935	39977935	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:39977935C>T	uc002hxv.2	+	9	1754	c.1429C>T	c.(1429-1431)CTG>TTG	p.L477L	FKBP10_uc002hxw.1_Silent_p.L241L	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	477	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGCTGTGCTGCTGTTTGAGGT	0.632000												
NBR1	4077	broad.mit.edu	37	17	41345516	41345516	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:41345516C>T	uc010czd.2	+	12	1525	c.1385C>T	c.(1384-1386)TCT>TTT	p.S462F	NBR1_uc010diz.2_Missense_Mutation_p.S462F|NBR1_uc010whu.1_Missense_Mutation_p.S462F|NBR1_uc010whv.1_Missense_Mutation_p.S462F|NBR1_uc010whw.1_Missense_Mutation_p.S441F|NBR1_uc010whx.1_Missense_Mutation_p.S271F	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	462					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGGCGTCTTTCTCACAAAGGC	0.522000												
ATXN7L3	56970	broad.mit.edu	37	17	42274991	42274991	+	Silent	SNP	C	C	T	rs142032853	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:42274991C>T	uc002iga.2	-	2	250	c.159G>A	c.(157-159)ACG>ACA	p.T53T	ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Silent_p.T53T	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	53					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)		TATCAGGGTCCGTGTCGTCCA	0.532000												
TBX21	30009	broad.mit.edu	37	17	45822626	45822626	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:45822626G>A	uc002ilv.1	+	6	1713	c.1502G>A	c.(1501-1503)CGC>CAC	p.R501H		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	501					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0						AAGAGGAGGCGCGTGTCCCCC	0.572000												
SGCA	6442	broad.mit.edu	37	17	48246578	48246578	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:48246578C>T	uc002iqi.2	+	6	746	c.710C>T	c.(709-711)GCA>GTA	p.A237V	SGCA_uc010wmh.1_Missense_Mutation_p.A135V|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	sarcoglycan, alpha isoform 1 precursor	237	Extracellular (Potential).				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(2)	2						GACACCTTGGCACCCCACTTC	0.642000											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DYNLL2	140735	broad.mit.edu	37	17	56166533	56166533	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:56166533C>T	uc010wnn.1	+	3	437	c.163C>T	c.(163-165)CAT>TAT	p.H55Y		NM_080677	NP_542408	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	55					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity				0						CCCTACCTGGCATTGTATCGT	0.413000												
MAP3K3	4215	broad.mit.edu	37	17	61769160	61769160	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:61769160G>A	uc002jbg.2	+	14	1731	c.1412G>A	c.(1411-1413)CGG>CAG	p.R471Q	MAP3K3_uc002jbe.2_Missense_Mutation_p.R502Q|MAP3K3_uc002jbf.2_Missense_Mutation_p.R502Q|MAP3K3_uc002jbh.2_Missense_Mutation_p.R498Q|MAP3K3_uc010wpo.1_Missense_Mutation_p.R386Q|MAP3K3_uc010wpp.1_Missense_Mutation_p.R467Q	NM_002401	NP_002392	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	471	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)	6						AAGTACACGCGGCAGATCCTG	0.448000												
SCN4A	6329	broad.mit.edu	37	17	62019107	62019107	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:62019107C>T	uc002jds.1	-	24	4612	c.4535G>A	c.(4534-4536)GGC>GAC	p.G1512D		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1512	IV.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	ATCATCGATGCCCGACTCCTT	0.557000												
SCN4A	6329	broad.mit.edu	37	17	62038590	62038590	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:62038590G>A	uc002jds.1	-	11	1885	c.1808C>T	c.(1807-1809)ACG>ATG	p.T603M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	603	II.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	AAAGTGCTCCGTCATGGGGTA	0.592000												
RGS9	8787	broad.mit.edu	37	17	63221121	63221121	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:63221121C>T	uc002jfe.2	+	18	1519	c.1409C>T	c.(1408-1410)CCG>CTG	p.P470L	RGS9_uc010dem.2_Missense_Mutation_p.P467L|RGS9_uc002jfd.2_Missense_Mutation_p.P467L|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P241L	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	470					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						TCTCTACAGCCGGGCCAGCAC	0.647000												
CACNG1	786	broad.mit.edu	37	17	65052208	65052208	+	Missense_Mutation	SNP	C	C	T	rs143055819	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:65052208C>T	uc002jfu.2	+	4	561	c.490C>T	c.(490-492)CGC>TGC	p.R164C		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	164					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)	GTCGGTGAAGCGCATGATTGA	0.617000												
ITGB4	3691	broad.mit.edu	37	17	73728294	73728294	+	Silent	SNP	C	C	T	rs149030156	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:73728294C>T	uc002jpg.2	+	12	1615	c.1428C>T	c.(1426-1428)TGC>TGT	p.C476C	ITGB4_uc002jph.2_Silent_p.C476C|ITGB4_uc010dgo.2_Silent_p.C476C|ITGB4_uc002jpi.3_Silent_p.C476C|ITGB4_uc010dgp.1_Silent_p.C476C|ITGB4_uc002jpj.2_Silent_p.C476C|ITGB4_uc010wsh.1_Silent_p.C31C	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	476	I.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTTCGTGTGCGGACAGTGTG	0.647000												
ITGB4	3691	broad.mit.edu	37	17	73753610	73753610	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:73753610A>G	uc002jpg.2	+	40	5630	c.5443A>G	c.(5443-5445)ATG>GTG	p.M1815V	ITGB4_uc002jph.2_Missense_Mutation_p.M1745V|ITGB4_uc002jpi.3_Missense_Mutation_p.M1745V|ITGB4_uc002jpj.2_Missense_Mutation_p.M1798V|GALK1_uc010wsi.1_Intron	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	1815	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)			TAGCACCCACATGGACCAACA	0.662000												
EXOC7	23265	broad.mit.edu	37	17	74087253	74087253	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:74087253T>C	uc002jqs.2	-	7	967	c.872A>G	c.(871-873)AAG>AGG	p.K291R	EXOC7_uc010dgv.1_Missense_Mutation_p.K238R|EXOC7_uc002jqq.2_Missense_Mutation_p.K291R|EXOC7_uc010wsw.1_Missense_Mutation_p.K291R|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Missense_Mutation_p.K250R	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	291					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			AGAGCCCCCCTTTTTCCCATC	0.542000												
JMJD6	23210	broad.mit.edu	37	17	74714828	74714828	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:74714828G>A	uc002jso.2	-	6	1519	c.1195C>T	c.(1195-1197)CGC>TGC	p.R399C	JMJD6_uc002jsn.1_Missense_Mutation_p.R399C|JMJD6_uc010dgz.2_Silent_p.S352S	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6 isoform 2	399					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			skin(2)|ovary(1)	3						GAGGAGCTGCGCTCTTTGCTG	0.642000												
CBX8	57332	broad.mit.edu	37	17	77769309	77769309	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:77769309C>G	uc002jxd.1	-	5	388	c.295G>C	c.(295-297)GCC>CCC	p.A99P		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	chromobox homolog 8	99					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding				0			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATGCCCCTGGCTGAGTCACTT	0.652000												
CCDC40	55036	broad.mit.edu	37	17	78039288	78039288	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:78039288G>A	uc010dht.2	+	10	1472	c.1445G>A	c.(1444-1446)TGC>TAC	p.C482Y	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.C265Y	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	482					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGCAGGCCTGCACCGAGATC	0.607000												
CARD14	79092	broad.mit.edu	37	17	78182049	78182049	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:78182049G>T	uc002jxw.1	+	21	3115	c.2920G>T	c.(2920-2922)GGC>TGC	p.G974C	CARD14_uc002jxt.1_RNA	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	974	Guanylate kinase-like.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGCTCCTGACGGCTGGAGCGA	0.677000												
AZI1	22994	broad.mit.edu	37	17	79173252	79173252	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:79173252C>T	uc002jzp.1	-	10	1321	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	AZI1_uc002jzm.1_5'Flank|AZI1_uc002jzn.1_Missense_Mutation_p.R374Q|AZI1_uc002jzo.1_Missense_Mutation_p.R374Q|AZI1_uc010wum.1_Missense_Mutation_p.R374Q	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	374					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGCAGGCTGCCGCATTCCTGG	0.657000												
C17orf70	80233	broad.mit.edu	37	17	79511074	79511074	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:79511074C>T	uc002kaq.2	-	7	2438	c.2383G>A	c.(2383-2385)GCC>ACC	p.A795T	C17orf70_uc002kao.1_Missense_Mutation_p.A444T|C17orf70_uc010wuq.1_RNA|C17orf70_uc002kap.2_Missense_Mutation_p.A644T	NM_001109760	NP_001103230	Q0VG06	FP100_HUMAN	Fanconi anemia core complex 100 kDa subunit	795					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			ovary(1)|skin(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CAAATGTCGGCCAGAGAGGAG	0.632000												
PYCR1	5831	broad.mit.edu	37	17	79893246	79893246	+	Silent	SNP	G	G	A	rs113491328	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:79893246G>A	uc002kcr.1	-	3	563	c.285C>T	c.(283-285)TGC>TGT	p.C95C	PYCR1_uc002kcq.1_Silent_p.C95C|PYCR1_uc002kcp.2_Silent_p.C95C|PYCR1_uc002kcs.1_Silent_p.C95C|PYCR1_uc010wvd.1_Silent_p.C122C|PYCR1_uc002kct.1_Silent_p.C95C|PYCR1_uc002kcu.1_Silent_p.C95C|PYCR1_uc010wve.1_Silent_p.C48C	NM_006907	NP_008838	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1 isoform 1	95	NADP.				cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CGCCGGCCGCGCAGGACACCA	0.587000												
FASN	2194	broad.mit.edu	37	17	80048771	80048771	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:80048771A>G	uc002kdu.2	-	10	1784	c.1667T>C	c.(1666-1668)CTG>CCG	p.L556P	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	556	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GATGGCAGTCAGGCTCACAAA	0.607000												
ANKRD12	23253	broad.mit.edu	37	18	9280973	9280973	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:9280973C>T	uc002knv.2	+	13	6295	c.6038C>T	c.(6037-6039)GCG>GTG	p.A2013V	ANKRD12_uc002knw.2_Missense_Mutation_p.A1990V|ANKRD12_uc002knx.2_Missense_Mutation_p.A1990V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	2013						nucleus				ovary(2)|central_nervous_system(1)	3						CATGAAGCTGCGGCTTTAAAT	0.363000												
DSC3	1825	broad.mit.edu	37	18	28586948	28586948	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:28586948C>T	uc002kwj.3	-	12	1968	c.1813G>A	c.(1813-1815)GGA>AGA	p.G605R	DSC3_uc002kwi.3_Missense_Mutation_p.G605R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	605	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AATGGAGCTCCATGGACAGGT	0.348000												
MCART2	147407	broad.mit.edu	37	18	29340010	29340010	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:29340010C>T	uc002kxa.2	-	1	834	c.615G>A	c.(613-615)ACG>ACA	p.T205T		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	mitochondrial carrier triple repeat 2	205					transport	integral to membrane|mitochondrial inner membrane				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.0539)			CACTGTGAGTCGTTGCGGTAG	0.458000												
RNF138	51444	broad.mit.edu	37	18	29693753	29693753	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:29693753T>C	uc002kxg.2	+	4	761	c.322T>C	c.(322-324)TAT>CAT	p.Y108H	RNF138_uc002kxh.2_Intron	NM_016271	NP_057355	Q8WVD3	RN138_HUMAN	ring finger protein 138 isoform 1	108					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding				0						TTGTAAGAAGTATCAGGATGA	0.289000												
ASXL3	80816	broad.mit.edu	37	18	31319791	31319791	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:31319791C>T	uc010dmg.1	+	11	2478	c.2423C>T	c.(2422-2424)CCC>CTC	p.P808L	ASXL3_uc002kxq.2_Missense_Mutation_p.P515L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						TCTAATACTCCCGAACCCATC	0.473000												
TCEB3B	51224	broad.mit.edu	37	18	44560469	44560469	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:44560469G>A	uc002lcr.1	-	1	1520	c.1167C>T	c.(1165-1167)TAC>TAT	p.Y389Y	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	389					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCAACTGATCGTAGGTGAGGT	0.488000												
MYO5B	4645	broad.mit.edu	37	18	47383217	47383217	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:47383217C>T	uc002leb.2	-	30	4276	c.3988G>A	c.(3988-3990)GGC>AGC	p.G1330S	MYO5B_uc002lea.2_Intron	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1330					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		TAGGCCAAGCCGAGTTCTCCA	0.478000												
CDH7	1005	broad.mit.edu	37	18	63530035	63530035	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:63530035G>A	uc002ljz.2	+	11	2071	c.1746G>A	c.(1744-1746)GTG>GTA	p.V582V	CDH7_uc002lka.2_Silent_p.V582V|CDH7_uc002lkb.2_Silent_p.V582V	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	582	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CCATCCGCGTGTGTGACTGTG	0.542000												
ZNF407	55628	broad.mit.edu	37	18	72343856	72343856	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:72343856G>A	uc002llw.2	+	1	938	c.881G>A	c.(880-882)CGT>CAT	p.R294H	ZNF407_uc010xfc.1_Missense_Mutation_p.R294H|ZNF407_uc010dqu.1_Missense_Mutation_p.R294H|ZNF407_uc002llu.2_Missense_Mutation_p.R293H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAATCACGTACAATGGCA	0.373000												
NFATC1	4772	broad.mit.edu	37	18	77208862	77208862	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:77208862C>T	uc010xfg.1	+	4	1920	c.1467C>T	c.(1465-1467)CAC>CAT	p.H489H	NFATC1_uc002lnc.1_Silent_p.H489H|NFATC1_uc010xff.1_Silent_p.H489H|NFATC1_uc002lnd.2_Silent_p.H489H|NFATC1_uc002lne.2_Silent_p.H17H|NFATC1_uc010xfh.1_Silent_p.H489H|NFATC1_uc010xfi.1_Silent_p.H476H|NFATC1_uc010xfj.1_Silent_p.H17H|NFATC1_uc002lnf.2_Silent_p.H476H|NFATC1_uc002lng.2_Silent_p.H476H|NFATC1_uc010xfk.1_Silent_p.H476H	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	489	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGCGCCCGCACGCCTTCTACC	0.607000												
ELANE	1991	broad.mit.edu	37	19	853026	853026	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:853026C>T	uc002lqb.2	+	2	256	c.218C>T	c.(217-219)GCG>GTG	p.A73V		NM_001972	NP_001963	P08246	ELNE_HUMAN	neutrophil elastase preproprotein	73	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			pancreas(1)	1					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CACTGCGTGGCGAATGTGTGA	0.731000									Kostmann_syndrome			
ARID3A	1820	broad.mit.edu	37	19	971946	971946	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:971946G>A	uc002lql.2	+	9	1953	c.1663G>A	c.(1663-1665)GGC>AGC	p.G555S		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT- like)	555	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)		cggcggcggcggcggcagcag	0.547000												
ARID3A	1820	broad.mit.edu	37	19	971952	971952	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	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												
MEX3D	399664	broad.mit.edu	37	19	1556717	1556717	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:1556717C>T	uc010dsn.2	-	2	801	c.801G>A	c.(799-801)CCG>CCA	p.P267P		NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	ring finger and KH domain containing 1	267					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGTTGGGCGGGCCCTGGG	0.711000												
MBD3	53615	broad.mit.edu	37	19	1581217	1581217	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:1581217G>A	uc002ltl.1	-	5	573	c.551C>T	c.(550-552)GCC>GTC	p.A184V	MBD3_uc002ltj.2_Missense_Mutation_p.A184V|MBD3_uc002ltk.2_Missense_Mutation_p.A152V	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	184					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGTGCAGGGCGCTGGCGAT	0.667000												
SLC39A3	29985	broad.mit.edu	37	19	2733205	2733205	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:2733205C>T	uc002lwg.2	-	3	743	c.489G>A	c.(487-489)TCG>TCA	p.S163S	SLC39A3_uc010xgy.1_Silent_p.S163S	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	163	Cytoplasmic (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGCGCGCGAGAGGCCCT	0.731000												
S1PR4	8698	broad.mit.edu	37	19	3179829	3179829	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3179829G>A	uc002lxg.2	+	1	1064	c.1039G>A	c.(1039-1041)GGA>AGA	p.G347R		NM_003775	NP_003766	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4 precursor	347	Cytoplasmic (By similarity).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|skin(1)	2						GGCTCACTCCGGAGCTTCCAC	0.692000												
PIP5K1C	23396	broad.mit.edu	37	19	3633441	3633441	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3633441G>A	uc002lyj.1	-	17	2055	c.1998C>T	c.(1996-1998)AGC>AGT	p.S666S	PIP5K1C_uc010xhq.1_Intron	NM_012398	NP_036530	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	666	Mediates interaction with TLN2.				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)		TTACTGTGTCGCTCTCGCCGT	0.692000												
MPND	84954	broad.mit.edu	37	19	4355005	4355005	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:4355005C>T	uc002mae.2	+	7	973	c.906C>T	c.(904-906)GAC>GAT	p.D302D	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Intron|MPND_uc002maf.2_Silent_p.D302D|MPND_uc002mah.2_Silent_p.D190D|MPND_uc002mai.2_Silent_p.D190D	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	302	MPN.						peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCTGGGACGTCAACAGCC	0.662000												
RFX2	5990	broad.mit.edu	37	19	6040096	6040096	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:6040096G>A	uc002meb.2	-	5	686	c.417C>T	c.(415-417)GTC>GTT	p.V139V	RFX2_uc002mec.2_Silent_p.V139V|RFX2_uc010xiy.1_Silent_p.V94V	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						GGCTCCCCCCGACATCCATGG	0.687000												
FBN3	84467	broad.mit.edu	37	19	8201136	8201136	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8201136C>T	uc002mjf.2	-	11	1424	c.1403G>A	c.(1402-1404)GGC>GAC	p.G468D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	468	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GTGGTAGGTGCCGGGGATGTT	0.642000												
PRAM1	84106	broad.mit.edu	37	19	8563446	8563446	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8563446G>A	uc002mkd.2	-	2	1266	c.1246C>T	c.(1246-1248)CCC>TCC	p.P416S	PRAM1_uc002mkc.2_Missense_Mutation_p.P416S	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	464	Pro-rich.						lipid binding|protein binding				0						CTCCAGCGGGGTGTCCCAGCC	0.721000												
MYO1F	4542	broad.mit.edu	37	19	8601234	8601234	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8601234C>T	uc002mkg.2	-	19	2059	c.1945G>A	c.(1945-1947)GAA>AAA	p.E649K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	649	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CCCTGGCGTTCGTCCCCACGC	0.652000												
MUC16	94025	broad.mit.edu	37	19	9061788	9061788	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:9061788G>T	uc002mkp.2	-	3	25862	c.25658C>A	c.(25657-25659)CCC>CAC	p.P8553H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8555	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TTCCACAGAGGGAAGGCTCGG	0.507000												
ZNF317	57693	broad.mit.edu	37	19	9267982	9267982	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:9267982C>T	uc002mku.2	+	4	476	c.201C>T	c.(199-201)ACC>ACT	p.T67T	ZNF317_uc010xkm.1_Nonsense_Mutation_p.R109*|ZNF317_uc002mkv.2_5'UTR|ZNF317_uc002mkw.2_Silent_p.T67T|ZNF317_uc002mkx.2_5'UTR|ZNF317_uc002mky.2_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGGACTTTACCGAGAAGGAGT	0.493000												
S1PR5	53637	broad.mit.edu	37	19	10624718	10624718	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:10624718C>T	uc002mot.1	-	2	1027	c.970G>A	c.(970-972)GGA>AGA	p.G324R	S1PR5_uc002mou.1_Missense_Mutation_p.G324R	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	324	Cytoplasmic (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						GAGTGGCGTCCGCAGCAGACC	0.701000												
PRKCSH	5589	broad.mit.edu	37	19	11558289	11558289	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:11558289T>C	uc002mrt.2	+	11	1221	c.885T>C	c.(883-885)CCT>CCC	p.P295P	PRKCSH_uc002mru.2_Silent_p.P295P|PRKCSH_uc010xlz.1_Silent_p.P295P|PRKCSH_uc010dya.2_Intron|PRKCSH_uc002mrv.1_Silent_p.P295P|PRKCSH_uc010dyb.2_Silent_p.P295P	NM_002743	NP_002734	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H isoform 1	295					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding				0						CTTCTGCCCCTGACTTGACGG	0.507000												
ZNF709	163051	broad.mit.edu	37	19	12576151	12576151	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:12576151A>G	uc002mtv.3	-	4	746	c.585T>C	c.(583-585)CCT>CCC	p.P195P	ZNF709_uc002mtw.3_Silent_p.P163P|ZNF709_uc002mtx.3_Silent_p.P195P	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TACATTCATAAGGTTTCTCTC	0.403000												
RNASEH2A	10535	broad.mit.edu	37	19	12918303	12918303	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:12918303G>A	uc002mvg.1	+	4	454	c.394G>A	c.(394-396)GGC>AGC	p.G132S	RNASEH2A_uc002mvf.1_Missense_Mutation_p.G50S	NM_006397	NP_006388	O75792	RNH2A_HUMAN	ribonuclease H2, large subunit	132					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(2)|central_nervous_system(1)	3						ATTGGACCAGGGCGTGAACGT	0.418000												
LPHN1	22859	broad.mit.edu	37	19	14281586	14281586	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:14281586T>C	uc010xnn.1	-	4	598	c.302A>G	c.(301-303)CAG>CGG	p.Q101R	LPHN1_uc010xno.1_Missense_Mutation_p.Q101R|uc002myf.2_RNA|uc010dzk.1_5'Flank	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	101	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(2)|lung(2)|central_nervous_system(1)	5						CACCACGCACTGGGTGCGGTT	0.597000												
EPS15L1	58513	broad.mit.edu	37	19	16536014	16536014	+	Silent	SNP	G	G	A	rs141071663		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:16536014G>A	uc002ndz.1	-	9	678	c.672C>T	c.(670-672)CCC>CCT	p.P224P	EPS15L1_uc002ndx.2_Silent_p.P224P|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.P114P|EPS15L1_uc010xpf.1_Silent_p.P127P|EPS15L1_uc002nea.1_Silent_p.P224P|EPS15L1_uc010eah.1_Silent_p.P224P|EPS15L1_uc002neb.1_Silent_p.P70P|EPS15L1_uc002nec.1_Silent_p.P224P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	224					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5						CAGGCAGGACGGGGACGGCGC	0.682000												
MAST3	23031	broad.mit.edu	37	19	18245776	18245776	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:18245776C>T	uc002nhz.3	+	16	1767	c.1767C>T	c.(1765-1767)TTC>TTT	p.F589F		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	589	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						AGGAACTCTTCGGTCAGGTGG	0.627000												
ELL	8178	broad.mit.edu	37	19	18557573	18557573	+	Missense_Mutation	SNP	G	G	A	rs142055049	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:18557573G>A	uc002njh.2	-	9	1589	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	ELL_uc010ebq.2_Missense_Mutation_p.T449M|ELL_uc002njg.2_Missense_Mutation_p.T373M	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	506					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)		GTAGTCAGGCGTCTCCGACGT	0.587000			T	MLL	AL							
ATP13A1	57130	broad.mit.edu	37	19	19758333	19758333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:19758333C>T	uc002nnh.3	-	21	2826	c.2798G>A	c.(2797-2799)CGC>CAC	p.R933H	ATP13A1_uc002nne.2_Missense_Mutation_p.R73H|ATP13A1_uc002nnf.3_Missense_Mutation_p.R301H|ATP13A1_uc002nng.2_Missense_Mutation_p.R815H	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	933	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						CTGGCTCAGGCGGTCCTGCAG	0.642000												
ATP13A1	57130	broad.mit.edu	37	19	19766196	19766196	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:19766196A>G	uc002nnh.3	-	11	1491	c.1463T>C	c.(1462-1464)GTC>GCC	p.V488A	ATP13A1_uc002nnf.3_5'UTR|ATP13A1_uc002nng.2_Missense_Mutation_p.V370A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	488	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						AGGAGGCACGACCGAGGTGAG	0.632000												
ZNF429	353088	broad.mit.edu	37	19	21720332	21720332	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:21720332T>C	uc002nqd.1	+	4	1614	c.1477T>C	c.(1477-1479)TCC>CCC	p.S493P	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	493	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTTTAAGCAGTCCTCAAACCT	0.398000												
ZNF91	7644	broad.mit.edu	37	19	23557561	23557561	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:23557561C>T	uc002nre.2	-	2	149	c.36G>A	c.(34-36)CTG>CTA	p.L12L	ZNF91_uc010xrj.1_Silent_p.L12L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	12						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)				TAAATGTCAACAGTCCCTGAA	0.403000												
ZNF675	171392	broad.mit.edu	37	19	23836865	23836865	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:23836865G>A	uc002nri.2	-	4	1052	c.870C>T	c.(868-870)GGC>GGT	p.G290G		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	zinc finger protein 675	290	C2H2-type 6.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|kidney(1)	2		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAAGGCTTTGCCACATTCTT	0.378000												
TSHZ3	57616	broad.mit.edu	37	19	31769253	31769253	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:31769253G>C	uc002nsy.3	-	2	1511	c.1446C>G	c.(1444-1446)GAC>GAG	p.D482E		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	482					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)					TAGGTTTCTCGTCAGTGACCG	0.478000												
ATP4A	495	broad.mit.edu	37	19	36046611	36046611	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:36046611C>T	uc002oal.1	-	13	2002	c.1973G>A	c.(1972-1974)CGC>CAC	p.R658H	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	hydrogen/potassium-exchanging ATPase 4A	658	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)	CACACGGAGGCGGGCAGCGAT	0.632000												
ZNF568	374900	broad.mit.edu	37	19	37441358	37441358	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:37441358G>A	uc002ofc.2	+	7	1818	c.1303G>A	c.(1303-1305)GTA>ATA	p.V435I	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Missense_Mutation_p.V359I|ZNF568_uc010efe.2_Missense_Mutation_p.V359I|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	435	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCCCTAACCGTACATATGCG	0.383000												
ZNF793	390927	broad.mit.edu	37	19	38027860	38027860	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:38027860C>T	uc010efm.2	+	8	742	c.300C>T	c.(298-300)GGC>GGT	p.G100G	ZNF793_uc010xts.1_Silent_p.G100G|ZNF793_uc010efo.2_Silent_p.G100G	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	zinc finger protein 793	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGCCAGGCGCAGCCATAA	0.403000												
DLL3	10683	broad.mit.edu	37	19	39995901	39995901	+	Silent	SNP	G	G	A	rs148016836	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:39995901G>A	uc002olx.2	+	6	961	c.903G>A	c.(901-903)CCG>CCA	p.P301P	DLL3_uc010egq.2_Silent_p.P301P|DLL3_uc002olw.2_Silent_p.P301P	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	301	EGF-like 2.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCACCTGCCCGCGTGGGTTCT	0.597000												
FCGBP	8857	broad.mit.edu	37	19	40398365	40398365	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:40398365G>A	uc002omp.3	-	14	6610	c.6602C>T	c.(6601-6603)GCG>GTG	p.A2201V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	2201	VWFD 5.					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)			CGCGTACGCCGCCGGCACGCG	0.692000												
LTBP4	8425	broad.mit.edu	37	19	41105349	41105349	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41105349C>T	uc002ooh.1	+	3	228	c.228C>T	c.(226-228)TGC>TGT	p.C76C	LTBP4_uc002oog.1_Silent_p.C39C|LTBP4_uc002ooi.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	76					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGAAGCTGCCAGCCCAAAA	0.607000												
CYP2A6	1548	broad.mit.edu	37	19	41351354	41351354	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41351354C>T	uc002opl.3	-	7	1027	c.1006G>A	c.(1006-1008)GGC>AGC	p.G336S	CYP2A6_uc010ehe.1_Missense_Mutation_p.G132S	NM_000762	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A,	336					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CGGTTCTTGCCGATCACTCTG	0.537000												
CCDC97	90324	broad.mit.edu	37	19	41822685	41822685	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41822685G>A	uc002oqg.2	+	2	565	c.443G>A	c.(442-444)CGC>CAC	p.R148H	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	148											0						GCCCGGCCCCGCACCCTGCGT	0.677000												
PRR19	284338	broad.mit.edu	37	19	42813866	42813866	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:42813866G>A	uc002oti.2	+	2	508	c.130G>A	c.(130-132)GAT>AAT	p.D44N	PRR19_uc002oth.1_Missense_Mutation_p.D44N|PRR19_uc002otj.2_Missense_Mutation_p.D44N	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	proline rich 19	44											0		Prostate(69;0.00682)				AGCCCACCACGATCCTCCTGT	0.632000												
MEGF8	1954	broad.mit.edu	37	19	42856601	42856601	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:42856601A>G	uc002otl.3	+	18	3777	c.3142A>G	c.(3142-3144)AAC>GAC	p.N1048D	MEGF8_uc002otm.3_Missense_Mutation_p.N656D	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1115	Extracellular (Potential).|EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				CTCACACTGCAACCGCACGTG	0.672000												
ZNF221	7638	broad.mit.edu	37	19	44470960	44470960	+	Nonsense_Mutation	SNP	C	C	T	rs148293806		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:44470960C>T	uc002oxx.2	+	6	1634	c.1306C>T	c.(1306-1308)CGA>TGA	p.R436*	ZNF221_uc010ejb.1_Nonsense_Mutation_p.R436*|ZNF221_uc010xws.1_Nonsense_Mutation_p.R436*	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	436	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Prostate(69;0.0352)				TACAAATTCACGACGATCTTC	0.418000												
BCAM	4059	broad.mit.edu	37	19	45317965	45317965	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45317965C>T	uc002ozu.2	+	8	1070	c.1026C>T	c.(1024-1026)TAC>TAT	p.Y342Y	BCAM_uc002ozt.1_Silent_p.Y342Y	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	342	Extracellular (Potential).|Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGGATTACGACGCGGCAG	0.642000												
ZNF296	162979	broad.mit.edu	37	19	45575805	45575805	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45575805C>T	uc002pao.2	-	3	539	c.482G>A	c.(481-483)CGC>CAC	p.R161H		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	161	C2H2-type 1.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTTGCCACAGCGCAGGCAGCT	0.592000												
PPP1R13L	10848	broad.mit.edu	37	19	45895174	45895174	+	Silent	SNP	C	C	T	rs148594569		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45895174C>T	uc002pbn.2	-	8	1856	c.1779G>A	c.(1777-1779)CCG>CCA	p.P593P	PPP1R13L_uc002pbm.2_Silent_p.P172P|PPP1R13L_uc002pbo.2_Silent_p.P593P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	593	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGCTCTGGGACGGGGCCGGGG	0.637000												
CCDC8	83987	broad.mit.edu	37	19	46914615	46914615	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:46914615G>A	uc002pep.2	-	1	2305	c.1453C>T	c.(1453-1455)CGC>TGC	p.R485C		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	485						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CACGAAAAGCGTCCAGGGGTC	0.622000												
SLC8A2	6543	broad.mit.edu	37	19	47951139	47951139	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:47951139C>T	uc002pgx.2	-	4	1968	c.1690G>A	c.(1690-1692)GGC>AGC	p.G564S	SLC8A2_uc010xyq.1_Missense_Mutation_p.G320S|SLC8A2_uc010xyr.1_Missense_Mutation_p.G27S|SLC8A2_uc010ele.2_Missense_Mutation_p.G564S	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	564	Calx-beta 2.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CGCGCCGTGCCGTCCACCGTG	0.736000												
GRIN2D	2906	broad.mit.edu	37	19	48908240	48908240	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:48908240G>A	uc002pjc.3	+	3	803	c.715G>A	c.(715-717)GTC>ATC	p.V239I		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	239	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTCCGCAGTGTCAGCGCGCA	0.701000												
NUCB1	4924	broad.mit.edu	37	19	49404120	49404120	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:49404120G>A	uc002plb.3	+	2	139	c.67G>A	c.(67-69)GCC>ACC	p.A23T	NUCB1_uc002pla.2_Missense_Mutation_p.A23T|NUCB1_uc002plc.2_Missense_Mutation_p.A23T|TULP2_uc002pkz.2_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	23						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		cctgctTCGCGCCGTGCTGGC	0.582000												
PRR12	57479	broad.mit.edu	37	19	50099948	50099948	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50099948G>A	uc002poo.3	+	4	2356	c.2356G>A	c.(2356-2358)GGG>AGG	p.G786R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	481	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)		TCTGGAGGCCGGGGGCCCTGA	0.706000												
PRR12	57479	broad.mit.edu	37	19	50128792	50128792	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50128792G>A	uc002poo.3	+	14	6039	c.6039G>A	c.(6037-6039)CCG>CCA	p.P2013P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	1192							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)		GGAACCAGCCGTGGCTGGAAC	0.687000												
MYH14	79784	broad.mit.edu	37	19	50764826	50764826	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50764826G>A	uc002prr.1	+	19	2443	c.2396G>A	c.(2395-2397)CGA>CAA	p.R799Q	MYH14_uc010enu.1_Missense_Mutation_p.R840Q|MYH14_uc002prq.1_Missense_Mutation_p.R807Q	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN	myosin, heavy chain 14 isoform 2	799	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)	1		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGAGGAGCGAGACCTGAAG	0.642000												
LRRC4B	94030	broad.mit.edu	37	19	51020885	51020885	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:51020885G>A	uc002pss.2	-	3	2222	c.2085C>T	c.(2083-2085)CAC>CAT	p.H695H	ASPDH_uc002psr.3_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	695	Cytoplasmic (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCAGAGGTTCGTGGATGGAGT	0.592000												
KLK5	25818	broad.mit.edu	37	19	51453318	51453318	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:51453318G>T	uc002pue.2	-	4	346	c.128C>A	c.(127-129)CCC>CAC	p.P43H	KLK5_uc002puf.2_Missense_Mutation_p.P43H|KLK5_uc002pug.2_Missense_Mutation_p.P43H	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5 preproprotein	43				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GCTCCCAGAGGGCACGGTGTT	0.617000												
FPR3	2359	broad.mit.edu	37	19	52327577	52327577	+	Silent	SNP	C	C	T	rs147264707		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:52327577C>T	uc002pxt.1	+	2	760	c.576C>T	c.(574-576)AAC>AAT	p.N192N		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	192	Extracellular (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						AGAGGTTGAACGTGTTCATTA	0.443000												
ZNF615	284370	broad.mit.edu	37	19	52497070	52497070	+	Missense_Mutation	SNP	C	C	T	rs142913953	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:52497070C>T	uc002pye.1	-	6	1551	c.1259G>A	c.(1258-1260)CGA>CAA	p.R420Q	ZNF615_uc002pyf.1_Missense_Mutation_p.R431Q|ZNF615_uc002pyg.1_Missense_Mutation_p.R312Q|ZNF615_uc002pyh.1_Missense_Mutation_p.R431Q|ZNF615_uc010epi.1_Missense_Mutation_p.R427Q|ZNF615_uc010ydg.1_Missense_Mutation_p.R425Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	420	C2H2-type 8.				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)		AGTATGAGTTCGTTGATGTAC	0.413000												
ZNF432	9668	broad.mit.edu	37	19	52537843	52537843	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:52537843A>G	uc002pyk.2	-	5	1407	c.1089T>C	c.(1087-1089)CAT>CAC	p.H363H		NM_014650	NP_055465	O94892	ZN432_HUMAN	zinc finger protein 432	363	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|pancreas(1)	3		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GATTTCGTTGATGTATGATGA	0.413000												
ZNF331	55422	broad.mit.edu	37	19	54080407	54080407	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:54080407G>T	uc002qbx.1	+	7	2027	c.593G>T	c.(592-594)TGG>TTG	p.W198L	ZNF331_uc002qby.1_Missense_Mutation_p.W198L|ZNF331_uc002qbz.1_Missense_Mutation_p.W198L|ZNF331_uc002qca.1_Missense_Mutation_p.W198L|ZNF331_uc010eqr.1_Missense_Mutation_p.W198L|ZNF331_uc002qcb.1_Missense_Mutation_p.W198L|ZNF331_uc002qcc.1_Missense_Mutation_p.W198L|ZNF331_uc002qcd.1_Missense_Mutation_p.W198L	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	198	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)		GCTTTTCGATGGGGCTCAAGC	0.458000			T	?	follicular thyroid adenoma							
NLRP9	338321	broad.mit.edu	37	19	56228095	56228095	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:56228095T>C	uc002qly.2	-	5	2357	c.2329A>G	c.(2329-2331)ATG>GTG	p.M777V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	777	LRR 2.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CCAACTTACATCAGCCTCTCC	0.542000												
ZNF835	90485	broad.mit.edu	37	19	57176318	57176318	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:57176318G>A	uc010ygo.1	-	2	315	c.315C>T	c.(313-315)TGC>TGT	p.C105C	ZNF835_uc010ygn.1_Silent_p.C83C	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						CAGGCGCGCTGCACCTCCGGG	0.642000												
PEG3	5178	broad.mit.edu	37	19	57325147	57325147	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:57325147C>T	uc002qnu.2	-	7	5014	c.4663G>A	c.(4663-4665)GGT>AGT	p.G1555S	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1526S|PEG3_uc002qnv.2_Missense_Mutation_p.G1555S|PEG3_uc002qnw.2_Missense_Mutation_p.G1431S|PEG3_uc002qnx.2_Missense_Mutation_p.G1429S|PEG3_uc010etr.2_Missense_Mutation_p.G1555S|PEG3AS_uc010ets.1_RNA	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1555					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATTGGCACCACCTGTGCTG	0.522000												
TPO	7173	broad.mit.edu	37	2	1491735	1491735	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:1491735G>A	uc002qww.2	+	10	1831	c.1740G>A	c.(1738-1740)CTG>CTA	p.L580L	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Silent_p.L580L|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Silent_p.L407L|TPO_uc010yip.1_Silent_p.L580L|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	580	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCATCAACCTGCAGAGGGGCC	0.592000												
TTC15	51112	broad.mit.edu	37	2	3469465	3469465	+	Missense_Mutation	SNP	A	A	G	rs149394434		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:3469465A>G	uc002qxm.1	+	9	1981	c.1775A>G	c.(1774-1776)CAG>CGG	p.Q592R	TTC15_uc002qxn.1_Missense_Mutation_p.Q592R|TTC15_uc010ewm.1_Missense_Mutation_p.Q598R	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	tetratricopeptide repeat domain 15	592	TPR 2.						binding			ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.214)		OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149)		ATTTCCCTGCAGGTACCTGTG	0.488000												
PUM2	23369	broad.mit.edu	37	2	20463159	20463159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:20463159G>A	uc002rds.1	-	13	2043	c.2020C>T	c.(2020-2022)CGA>TGA	p.R674*	PUM2_uc002rdq.1_Nonsense_Mutation_p.R51*|PUM2_uc002rdt.1_Nonsense_Mutation_p.R674*|PUM2_uc002rdr.2_Nonsense_Mutation_p.R534*|PUM2_uc010yjy.1_Nonsense_Mutation_p.R595*|PUM2_uc002rdu.1_Nonsense_Mutation_p.R674*|PUM2_uc010yjz.1_Nonsense_Mutation_p.R613*	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	674	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCACTTCGATATTTTGCT	0.468000												
PUM2	23369	broad.mit.edu	37	2	20494174	20494174	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:20494174T>C	uc002rds.1	-	8	1138	c.1115A>G	c.(1114-1116)CAG>CGG	p.Q372R	PUM2_uc002rdt.1_Missense_Mutation_p.Q372R|PUM2_uc002rdr.2_Missense_Mutation_p.Q311R|PUM2_uc010yjy.1_Missense_Mutation_p.Q372R|PUM2_uc002rdu.1_Missense_Mutation_p.Q372R|PUM2_uc010yjz.1_Missense_Mutation_p.Q311R	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	372	Ala-rich.|Gln-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGCTTGCTGACTGGCTGT	0.478000												
C2orf39	92749	broad.mit.edu	37	2	26667583	26667583	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:26667583G>T	uc002rhg.2	+	10	1238	c.1164_splice	c.e10-1	p.R388_splice	C2orf39_uc010eym.1_Splice_Site	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	hypothetical protein LOC92749												0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTTCACAGGCATTTTGCT	0.488000												
PREB	10113	broad.mit.edu	37	2	27356049	27356049	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:27356049C>T	uc002rix.1	-	3	735	c.482G>A	c.(481-483)TGC>TAC	p.C161Y	PREB_uc002riy.1_Missense_Mutation_p.C89Y|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.C161Y	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	161	WD 1.|Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGTTGAAGCACACAACTTT	0.542000												
WDR43	23160	broad.mit.edu	37	2	29136984	29136984	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:29136984T>C	uc002rmo.2	+	5	688	c.656T>C	c.(655-657)ATC>ACC	p.I219T		NM_015131	NP_055946	Q15061	WDR43_HUMAN	WD repeat domain 43	219	WD 5.					nucleolus				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					TTCACTACCATCAGACCTCCT	0.423000												
EHD3	30845	broad.mit.edu	37	2	31483572	31483572	+	Silent	SNP	C	C	T	rs147844646		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:31483572C>T	uc002rnu.2	+	4	1307	c.699C>T	c.(697-699)TAC>TAT	p.Y233Y	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	233					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					TGCGGGTGTACGGGGCCCTCA	0.577000												
LTBP1	4052	broad.mit.edu	37	2	33589400	33589400	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:33589400G>A	uc002ros.2	+	30	4520	c.4520G>A	c.(4519-4521)TGT>TAT	p.C1507Y	LTBP1_uc002rot.2_Missense_Mutation_p.C1181Y|LTBP1_uc002rou.2_Missense_Mutation_p.C1180Y|LTBP1_uc002rov.2_Missense_Mutation_p.C1127Y|LTBP1_uc010ymz.1_Missense_Mutation_p.C1138Y|LTBP1_uc010yna.1_Missense_Mutation_p.C1085Y|LTBP1_uc010ynb.1_Missense_Mutation_p.C404Y	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)				GAAAAAAGATGTATACGACCG	0.418000												
PRKCE	5581	broad.mit.edu	37	2	46234741	46234741	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:46234741C>T	uc002rut.2	+	9	1401	c.1204C>T	c.(1204-1206)CGC>TGC	p.R402C		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	402					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCAGGCCAAGCGCCTGGGCCT	0.582000												
SPTBN1	6711	broad.mit.edu	37	2	54856759	54856759	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:54856759C>T	uc002rxu.2	+	14	2737	c.2488C>T	c.(2488-2490)CGG>TGG	p.R830W	SPTBN1_uc002rxv.1_Missense_Mutation_p.R830W|SPTBN1_uc002rxx.2_Missense_Mutation_p.R817W	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	830	Spectrin 6.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CATCGAGGAGCGGTATAAGGA	0.642000												
TET3	200424	broad.mit.edu	37	2	74326560	74326560	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:74326560T>C	uc002skb.3	+	8	3020	c.3020T>C	c.(3019-3021)CTC>CCC	p.L1007P		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	1007							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						ATCCAGGTGCTCACCGCCTTC	0.627000												
REG3G	130120	broad.mit.edu	37	2	79255050	79255050	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:79255050A>G	uc002snw.2	+	5	536	c.451A>G	c.(451-453)AGA>GGA	p.R151G	REG3G_uc002snx.2_Missense_Mutation_p.R151G|REG3G_uc010ffu.2_Missense_Mutation_p.R105G	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma precursor	151	C-type lectin.				acute-phase response	extracellular region	sugar binding				0						GAGCCTGTCAAGAAGCACAGG	0.478000												
SLC9A4	389015	broad.mit.edu	37	2	103124628	103124628	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:103124628G>A	uc002tbz.3	+	5	1746	c.1289G>A	c.(1288-1290)CGA>CAA	p.R430Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	430					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						AGTGGTGTTCGAGGAGCTGGA	0.408000												
NCK2	8440	broad.mit.edu	37	2	106498349	106498349	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:106498349G>A	uc002tdg.2	+	4	1234	c.792G>A	c.(790-792)GCG>GCA	p.A264A	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.A264A	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	264					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						TGCACCCTGCGCACGCCCCAC	0.667000												
ST6GAL2	84620	broad.mit.edu	37	2	107423211	107423211	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:107423211G>A	uc002tdq.2	-	6	1632	c.1513C>T	c.(1513-1515)CGC>TGC	p.R505C	ST6GAL2_uc002tdr.2_Missense_Mutation_p.R505C	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	505	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						TTGCCCTTGCGATGCAAATCC	0.577000												
FOXD4L1	200350	broad.mit.edu	37	2	114257147	114257147	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:114257147C>T	uc002tjw.3	+	1	487	c.314C>T	c.(313-315)CCG>CTG	p.P105L		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	105					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						GCCCGGCAGCCGGCAAAGCCC	0.657000												
NCKAP5	344148	broad.mit.edu	37	2	133540153	133540153	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:133540153G>A	uc002ttp.2	-	14	4605	c.4231C>T	c.(4231-4233)CGC>TGC	p.R1411C	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1411							protein binding				0						CAACTGCGGCGGTCACTGCCT	0.597000												
TMEM163	81615	broad.mit.edu	37	2	135215710	135215710	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:135215710G>T	uc002ttx.2	-	7	768	c.702C>A	c.(700-702)TTC>TTA	p.F234L	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	234	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		GAAGAATGGAGAAGCCCATCA	0.542000												
THSD7B	80731	broad.mit.edu	37	2	138000026	138000026	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:138000026G>T	uc002tva.1	+	9	2058	c.2058_splice	c.e9-1	p.R686_splice	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Splice_Site_p.R576_splice	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)		CACATTGACAGATGTCCAGAT	0.368000												
NEB	4703	broad.mit.edu	37	2	152581448	152581448	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:152581448C>A	uc010fnx.2	-	7	621	c.430G>T	c.(430-432)GCT>TCT	p.A144S		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	144					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)		ATAGTCTTAGCAACATCACCA	0.378000												
ACVR1C	130399	broad.mit.edu	37	2	158390496	158390496	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:158390496G>A	uc002tzk.3	-	9	1659	c.1416C>T	c.(1414-1416)CGC>CGT	p.R472R	ACVR1C_uc002tzl.3_Silent_p.R392R|ACVR1C_uc010fof.2_Silent_p.R315R|ACVR1C_uc010foe.2_Silent_p.R422R	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	472	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						GAGCAGTTAGGCGGGCCGCTC	0.388000												
CSRNP3	80034	broad.mit.edu	37	2	166535568	166535568	+	Missense_Mutation	SNP	G	G	A	rs139133187		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:166535568G>A	uc002udf.2	+	7	1439	c.1063G>A	c.(1063-1065)GGA>AGA	p.G355R	CSRNP3_uc002udg.2_Missense_Mutation_p.G355R	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	355	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5						CTTTTGCAGCGGAGTCACAGA	0.433000												
PMS1	5378	broad.mit.edu	37	2	190718672	190718672	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:190718672G>A	uc002urh.3	+	8	1359	c.830G>A	c.(829-831)CGA>CAA	p.R277Q	PMS1_uc010zga.1_Missense_Mutation_p.R238Q|PMS1_uc010zgb.1_Missense_Mutation_p.R216Q|PMS1_uc002urk.3_Missense_Mutation_p.R238Q|PMS1_uc002uri.3_Missense_Mutation_p.R277Q|PMS1_uc010zgc.1_Missense_Mutation_p.R101Q|PMS1_uc010zgd.1_Missense_Mutation_p.R101Q|PMS1_uc002urj.2_RNA|PMS1_uc010fry.1_Missense_Mutation_p.R238Q|PMS1_uc010frz.2_Intron|PMS1_uc002url.2_Missense_Mutation_p.R62Q|PMS1_uc002urm.2_RNA|PMS1_uc002urn.1_5'UTR	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	277					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TAGTTAATCCGACATCATTAC	0.274000			Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR				
ANKRD44	91526	broad.mit.edu	37	2	197986076	197986076	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:197986076C>A	uc002uuc.2	-	8	1053	c.886G>T	c.(886-888)GGG>TGG	p.G296W	ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.G271W|ANKRD44_uc002uub.2_Missense_Mutation_p.G296W|ANKRD44_uc010zgw.1_Missense_Mutation_p.G224W	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	296	ANK 9.						protein binding			ovary(4)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACATCTGCCCCGTTGTTTACT	0.428000												
KCTD18	130535	broad.mit.edu	37	2	201362476	201362476	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:201362476C>A	uc002uvs.2	-	5	1178	c.661G>T	c.(661-663)GGT>TGT	p.G221C	KCTD18_uc002uvt.2_Missense_Mutation_p.G221C|KCTD18_uc002uvu.1_Missense_Mutation_p.G221C	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1						TGCACTGTACCTTTTCCTTCC	0.343000												
CYP20A1	57404	broad.mit.edu	37	2	204150338	204150338	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:204150338G>A	uc002uzv.3	+	9	1476	c.854G>A	c.(853-855)TGT>TAT	p.C285Y	CYP20A1_uc002uzx.3_Missense_Mutation_p.C183Y|CYP20A1_uc010zif.1_Missense_Mutation_p.C293Y|CYP20A1_uc002uzy.3_Missense_Mutation_p.C183Y|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_Missense_Mutation_p.C15Y	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	285						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						GACCTAGTGTGTACCTGGGCA	0.328000												
PARD3B	117583	broad.mit.edu	37	2	205969158	205969158	+	Silent	SNP	G	G	A	rs115490230	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:205969158G>A	uc002var.1	+	5	720	c.513G>A	c.(511-513)ACG>ACA	p.T171T	PARD3B_uc010fub.1_Silent_p.T171T|PARD3B_uc002vao.1_Silent_p.T171T|PARD3B_uc002vap.1_Silent_p.T171T|PARD3B_uc002vaq.1_Silent_p.T171T	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	171					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGGATTCCACGCAGAACTTGG	0.368000												
PARD3B	117583	broad.mit.edu	37	2	206364664	206364664	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:206364664G>A	uc002var.1	+	21	3296	c.3089G>A	c.(3088-3090)CGG>CAG	p.R1030Q	PARD3B_uc002vao.1_Missense_Mutation_p.R929Q|PARD3B_uc002vap.1_Missense_Mutation_p.R968Q|PARD3B_uc002vaq.1_Missense_Mutation_p.R961Q	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1030					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGAAGTTGCGGAAAGAGTAT	0.463000												
FN1	2335	broad.mit.edu	37	2	216232726	216232726	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:216232726G>A	uc002vfa.2	-	42	7144	c.6878C>T	c.(6877-6879)ACG>ATG	p.T2293M	FN1_uc002vfb.2_Missense_Mutation_p.T2081M|FN1_uc002vfc.2_Missense_Mutation_p.T2056M|FN1_uc002vfd.2_Missense_Mutation_p.T2237M|FN1_uc002vfe.2_Missense_Mutation_p.T2171M|FN1_uc002vff.2_Missense_Mutation_p.T2146M|FN1_uc002vfg.2_Missense_Mutation_p.T2112M|FN1_uc002vfh.2_Missense_Mutation_p.T1992M|FN1_uc002vfi.2_Missense_Mutation_p.T2262M|FN1_uc002vfj.2_Missense_Mutation_p.T2083M|FN1_uc002vez.2_Missense_Mutation_p.T456M|FN1_uc010zjp.1_Missense_Mutation_p.T830M|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2202					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGAGTCATCCGTAGGTTGGTT	0.418000												
FN1	2335	broad.mit.edu	37	2	216240005	216240005	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:216240005T>G	uc002vfa.2	-	38	6355	c.6089A>C	c.(6088-6090)AAG>ACG	p.K2030T	FN1_uc002vfb.2_Missense_Mutation_p.K1849T|FN1_uc002vfc.2_Missense_Mutation_p.K1849T|FN1_uc002vfd.2_Missense_Mutation_p.K2030T|FN1_uc002vfe.2_Missense_Mutation_p.K1939T|FN1_uc002vff.2_Missense_Mutation_p.K1939T|FN1_uc002vfg.2_Missense_Mutation_p.K1849T|FN1_uc002vfh.2_Missense_Mutation_p.K1849T|FN1_uc002vfi.2_Missense_Mutation_p.K2030T|FN1_uc002vfj.2_Missense_Mutation_p.K1940T|FN1_uc002vez.2_Missense_Mutation_p.K224T|FN1_uc010zjp.1_Missense_Mutation_p.K567T|FN1_uc002vfk.1_RNA|FN1_uc010fva.1_RNA|FN1_uc010fvb.1_RNA|FN1_uc010fvc.1_Missense_Mutation_p.K392T|FN1_uc010fvd.1_Missense_Mutation_p.K121T	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	1939	Binds to FBLN1.|Heparin-binding 2.|Fibronectin type-III 15.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACCCAGGCTTCTCATACTT	0.557000												
FAM124B	79843	broad.mit.edu	37	2	225266089	225266089	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:225266089A>C	uc002vnx.2	-	1	623	c.397T>G	c.(397-399)TGT>GGT	p.C133G	FAM124B_uc002vnw.2_Missense_Mutation_p.C133G	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	133							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TCGGAGCCACAGTGCACCTGC	0.547000												
NMUR1	10316	broad.mit.edu	37	2	232393149	232393149	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:232393149G>A	uc002vry.3	-	2	693	c.583C>T	c.(583-585)CCC>TCC	p.P195S		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	195	Helical; Name=4; (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			lung(3)|central_nervous_system(1)|pancreas(1)	5		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGGTGTTGGGCAGGGAGCAG	0.697000												
ALPP	250	broad.mit.edu	37	2	233246214	233246214	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:233246214C>T	uc002vsq.2	+	11	1482	c.1317C>T	c.(1315-1317)CCC>CCT	p.P439P	ALPP_uc002vsr.2_RNA	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	439						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGGGAGCCCCGAGTATCGGC	0.672000												
AGAP1	116987	broad.mit.edu	37	2	236877175	236877175	+	Missense_Mutation	SNP	C	C	T	rs35347272		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:236877175C>T	uc002vvs.2	+	13	2148	c.1553C>T	c.(1552-1554)CCG>CTG	p.P518L	AGAP1_uc002vvt.2_Missense_Mutation_p.P465L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	518	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						AAGCTCGACCCGCCCCCCTCC	0.577000												
COL6A3	1293	broad.mit.edu	37	2	238283516	238283516	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:238283516C>T	uc002vwl.2	-	8	3503	c.3218G>A	c.(3217-3219)AGC>AAC	p.S1073N	COL6A3_uc002vwo.2_Missense_Mutation_p.S867N|COL6A3_uc010znj.1_Missense_Mutation_p.S466N|COL6A3_uc002vwq.2_Missense_Mutation_p.S867N|COL6A3_uc002vwr.2_Missense_Mutation_p.S666N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1073	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTCCGGTCGCTGTACTGCAC	0.622000												
COL6A3	1293	broad.mit.edu	37	2	238296516	238296516	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:238296516G>A	uc002vwl.2	-	4	1306	c.1021C>T	c.(1021-1023)CGC>TGC	p.R341C	COL6A3_uc002vwo.2_Missense_Mutation_p.R135C|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.R135C|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.R341C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	341	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCTCCACGCGGCTGCCCCCT	0.617000												
HDAC4	9759	broad.mit.edu	37	2	240002800	240002800	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:240002800G>A	uc002vyk.3	-	22	3518	c.2726C>T	c.(2725-2727)GCG>GTG	p.A909V	HDAC4_uc010fyy.2_Missense_Mutation_p.A866V	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	909	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTGAAGGCCGCCAAGTACTC	0.597000												
TGM3	7053	broad.mit.edu	37	20	2298001	2298001	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:2298001C>T	uc002wfx.3	+	7	950	c.853C>T	c.(853-855)CGG>TGG	p.R285W		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	285					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	TGCAGCGCTGCGGTCTTTGGG	0.572000												
PTPRA	5786	broad.mit.edu	37	20	3007386	3007386	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:3007386A>G	uc010zqd.1	+	17	2018	c.1701A>G	c.(1699-1701)CCA>CCG	p.P567P	PTPRA_uc002whj.2_Silent_p.P556P|PTPRA_uc002whk.2_Silent_p.P547P|PTPRA_uc002whl.2_Silent_p.P547P|PTPRA_uc002whm.2_Silent_p.P323P|PTPRA_uc002whn.2_Silent_p.P547P|PTPRA_uc002who.2_Silent_p.P219P	NM_002836	NP_002827	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	556	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1						GAAACCTTCCAGCCAACATGA	0.473000												
SIGLEC1	6614	broad.mit.edu	37	20	3675129	3675129	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:3675129G>A	uc002wja.2	-	12	2995	c.2995C>T	c.(2995-2997)CGA>TGA	p.R999*	SIGLEC1_uc002wjb.1_5'Flank|SIGLEC1_uc002wiz.3_Nonsense_Mutation_p.R999*	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	999	Ig-like C2-type 10.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						AGGCCCAGTCGTCCAGGGCCT	0.672000												
SPTLC3	55304	broad.mit.edu	37	20	13071817	13071817	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:13071817G>A	uc002wod.1	+	5	983	c.694G>A	c.(694-696)GCA>ACA	p.A232T		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	232					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)	GATGGGATTCGCAACTAACTC	0.413000												
PROCR	10544	broad.mit.edu	37	20	33764529	33764529	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:33764529G>A	uc002xbt.2	+	4	814	c.630G>A	c.(628-630)TCG>TCA	p.S210S	EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Silent_p.S247S	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	endothelial protein C receptor precursor	210	Extracellular (Potential).				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity				0			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CCTACACTTCGCTGGTCCTGG	0.542000												
DLGAP4	22839	broad.mit.edu	37	20	35060934	35060934	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:35060934G>A	uc002xff.2	+	3	1249	c.814G>A	c.(814-816)GCA>ACA	p.A272T	DLGAP4_uc010zvp.1_Missense_Mutation_p.A272T	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	272	Poly-Pro.				cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCCCCGCCCGCACCCCCAGC	0.627000												
SAMHD1	25939	broad.mit.edu	37	20	35521451	35521451	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:35521451G>T	uc002xgh.1	-	16	1895	c.1765C>A	c.(1765-1767)CCA>ACA	p.P589T	C20orf118_uc002xgg.1_3'UTR|SAMHD1_uc010gft.1_RNA	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	SAM domain- and HD domain-containing protein 1	589					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)				GTTATGAGTGGGGCTATAACA	0.423000												
SLC32A1	140679	broad.mit.edu	37	20	37357202	37357202	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:37357202G>A	uc002xjc.2	+	2	1761	c.1498G>A	c.(1498-1500)GGC>AGC	p.G500S		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	solute carrier family 32, member 1	500	Helical; (Potential).				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity				0		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGTCATCGGCGGCATCTG	0.647000												
PLCG1	5335	broad.mit.edu	37	20	39801287	39801287	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:39801287T>C	uc002xjp.1	+	26	3251	c.3130_splice	c.e26+2	p.D1044_splice	PLCG1_uc002xjo.1_Splice_Site_p.D1044_splice|PLCG1_uc010zwe.1_Splice_Site_p.D670_splice	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b						activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				AGACCCCTGGTGAGGAAGTCC	0.567000												
PTPRT	11122	broad.mit.edu	37	20	41419958	41419958	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:41419958G>A	uc002xkg.2	-	3	547	c.363C>T	c.(361-363)AAC>AAT	p.N121N	PTPRT_uc010ggj.2_Silent_p.N121N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	121	Extracellular (Potential).|MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCACGTAGACGTTCAAGGCCC	0.592000												
MYBL2	4605	broad.mit.edu	37	20	42331253	42331253	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:42331253C>T	uc002xlb.1	+	8	1290	c.1075C>T	c.(1075-1077)CGC>TGC	p.R359C	MYBL2_uc010zwj.1_Missense_Mutation_p.R335C|MYBL2_uc002xla.1_Missense_Mutation_p.R359C	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	359						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)			CCTGCCACCCCGCCAGCCTTC	0.607000												
MMP9	4318	broad.mit.edu	37	20	44641175	44641175	+	Silent	SNP	G	G	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:44641175G>C	uc002xqz.2	+	8	1303	c.1284G>C	c.(1282-1284)GGG>GGC	p.G428G		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	428					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)	TCACTGAGGGGCCCCCCTTGC	0.627000												
ZNFX1	57169	broad.mit.edu	37	20	47864574	47864574	+	Missense_Mutation	SNP	G	G	A	rs150988771		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:47864574G>A	uc002xui.2	-	14	5234	c.4987C>T	c.(4987-4989)CGG>TGG	p.R1663W		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1663							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCTTAAGCCGTTCCTGGCTG	0.502000												
B4GALT5	9334	broad.mit.edu	37	20	48252915	48252915	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:48252915G>A	uc002xuu.3	-	9	1295	c.1101C>T	c.(1099-1101)TAC>TAT	p.Y367Y		NM_004776	NP_004767	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	367	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493000												
SALL4	57167	broad.mit.edu	37	20	50408073	50408073	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:50408073G>A	uc002xwh.3	-	2	1050	c.949C>T	c.(949-951)CCG>TCG	p.P317S	SALL4_uc010gii.2_Missense_Mutation_p.P317S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	317					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GTCCCATCCGGCTTCAGAGTG	0.632000												
LAMA5	3911	broad.mit.edu	37	20	60886294	60886294	+	Nonsense_Mutation	SNP	G	G	A	rs150238261	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:60886294G>A	uc002ycq.2	-	73	10079	c.10012C>T	c.(10012-10014)CGA>TGA	p.R3338*		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3338					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGGAGTCTCGGGTGGTCCTG	0.682000												
SON	6651	broad.mit.edu	37	21	34925673	34925673	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:34925673C>T	uc002yse.1	+	3	4185	c.4136C>T	c.(4135-4137)TCG>TTG	p.S1379L	SON_uc002ysb.1_Missense_Mutation_p.S1379L|SON_uc002ysc.2_Missense_Mutation_p.S1379L|SON_uc002ysd.2_Missense_Mutation_p.S370L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S370L	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1379	4 X 8 AA tandem repeats of V-L-E-SS- [AVT]-VT.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6						CTGGAGTCTTCGACTGTAACT	0.577000												
DOPEY2	9980	broad.mit.edu	37	21	37581040	37581040	+	Silent	SNP	G	G	A	rs143348611		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:37581040G>A	uc002yvg.2	+	5	598	c.519G>A	c.(517-519)TCG>TCA	p.S173S	DOPEY2_uc011aeb.1_Silent_p.S173S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	173					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TGAGACTGTCGCTGGTGGTTG	0.612000												
DOPEY2	9980	broad.mit.edu	37	21	37605196	37605196	+	Silent	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:37605196C>A	uc002yvg.2	+	15	2524	c.2445C>A	c.(2443-2445)TCC>TCA	p.S815S	DOPEY2_uc011aeb.1_Silent_p.S815S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	815					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TGGCCATTTCCACTCTGCTGG	0.483000												
HLCS	3141	broad.mit.edu	37	21	38309376	38309376	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:38309376C>T	uc010gnb.2	-	4	1570	c.369G>A	c.(367-369)GCG>GCA	p.A123A	HLCS_uc002yvs.2_Silent_p.A123A|HLCS_uc010gnc.1_Silent_p.A270A	NM_000411	NP_000402	P50747	BPL1_HUMAN	holocarboxylase synthetase	123					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			ovary(2)|breast(1)|kidney(1)|liver(1)	5		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCTCGGCAGACGCAAACTTGA	0.527000												
KRTAP10-10	353333	broad.mit.edu	37	21	46057624	46057624	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:46057624C>A	uc002zfq.2	+	1	352	c.290C>A	c.(289-291)CCT>CAT	p.P97H	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	keratin associated protein 10-10	97	15 X 5 AA repeats of C-C-X(3).|5.					keratin filament					0						tgctgtgtgcctgtctgctgt	0.328000												
SUMO3	6612	broad.mit.edu	37	21	46226885	46226885	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:46226885A>G	uc002zfz.1	-	4	454	c.293T>C	c.(292-294)CTG>CCG	p.L98P	SUMO3_uc011afi.1_Missense_Mutation_p.L136P|SUMO3_uc002zga.1_Missense_Mutation_p.W115R	NM_006936	NP_008867	P55854	SUMO3_HUMAN	small ubiquitin-like modifier protein 3	98					protein sumoylation	cytoplasm|kinetochore	protein binding				0				Colorectal(79;0.058)		GTGCCCTGCCAGGCTGCTCTC	0.617000												
FTCD	10841	broad.mit.edu	37	21	47571482	47571482	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:47571482C>A	uc002zif.2	-	5	670	c.626G>T	c.(625-627)GGG>GTG	p.G209V	FTCD_uc002zig.2_Missense_Mutation_p.G209V|FTCD_uc002zih.2_Missense_Mutation_p.G209V|FTCD_uc010gqf.2_Missense_Mutation_p.G209V|FTCD_uc010gqg.1_Missense_Mutation_p.G78V	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	209	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGGTCCTTCCCGCGGCCCTG	0.652000												
DIP2A	23181	broad.mit.edu	37	21	47952045	47952045	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:47952045G>A	uc002zjo.2	+	10	1383	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A	DIP2A_uc011afy.1_Silent_p.A336A|DIP2A_uc011afz.1_Silent_p.A396A|DIP2A_uc002zjl.2_Silent_p.A400A|DIP2A_uc002zjm.2_Silent_p.A400A|DIP2A_uc010gql.2_Silent_p.A357A|DIP2A_uc002zjn.2_Silent_p.A400A|DIP2A_uc002zjp.1_Silent_p.A145A	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	400					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)		TGTAGGTGGCGCTCGTGTTTC	0.373000												
IL17RA	23765	broad.mit.edu	37	22	17589282	17589282	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:17589282C>T	uc002zly.2	+	13	1306	c.1173C>T	c.(1171-1173)TAC>TAT	p.Y391Y	IL17RA_uc010gqt.2_Silent_p.Y339Y	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	391	Cytoplasmic (Potential).|SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ACCCCCTCTACGTGGACGTGG	0.627000												
CECR1	51816	broad.mit.edu	37	22	17662900	17662900	+	Missense_Mutation	SNP	C	C	G	rs142726959	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:17662900C>G	uc002zmk.1	-	8	1464	c.1252G>C	c.(1252-1254)GTG>CTG	p.V418L	CECR1_uc010gqu.1_Missense_Mutation_p.V418L|CECR1_uc011agi.1_Missense_Mutation_p.V376L|CECR1_uc002zmj.1_Missense_Mutation_p.V177L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	418					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AAGTCAGACACCAGTTTCAGC	0.527000												
CLTCL1	8218	broad.mit.edu	37	22	19175080	19175080	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:19175080T>C	uc002zpb.2	-	30	4670	c.4595A>G	c.(4594-4596)CAT>CGT	p.H1532R	CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.H1511R|CLTCL1_uc011agt.1_Missense_Mutation_p.H323R|CLTCL1_uc011agu.1_Intron	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	1532	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CTTGTAGAGATGATCCTTCTT	0.557000			T	?	ALCL							
ZDHHC8	29801	broad.mit.edu	37	22	20131091	20131091	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:20131091G>A	uc002zrq.2	+	10	2044	c.1938G>A	c.(1936-1938)CTG>CTA	p.L646L	ZDHHC8_uc002zrr.1_Silent_p.L646L|ZDHHC8_uc010gsa.2_Silent_p.L452L	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	646	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CCTCCTCCCTGCAGGCTGATC	0.736000												
GNAZ	2781	broad.mit.edu	37	22	23438292	23438292	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:23438292C>T	uc002zwu.1	+	2	947	c.410C>T	c.(409-411)GCA>GTA	p.A137V	RTDR1_uc002zwt.2_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	guanine nucleotide binding protein, alpha z	137						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			kidney(1)|skin(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GACCCAGGGGCACAGGCCTGC	0.662000												
AP1B1	162	broad.mit.edu	37	22	29747232	29747232	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:29747232G>A	uc003afj.2	-	9	1267	c.1083C>T	c.(1081-1083)TAC>TAT	p.Y361Y	AP1B1_uc003afi.2_Silent_p.Y361Y|AP1B1_uc003afk.2_Silent_p.Y361Y|AP1B1_uc003afl.2_Silent_p.Y361Y|AP1B1_uc011ako.1_5'Flank	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	361					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2						CTTCTGTTGCGTACTCTTTCA	0.562000												
RNF215	200312	broad.mit.edu	37	22	30776328	30776328	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:30776328G>A	uc003ahp.2	-	6	807	c.807C>T	c.(805-807)CTC>CTT	p.L269L	RNF215_uc011akw.1_Silent_p.L174L	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	ring finger protein 215	269	Helical; (Potential).					integral to membrane	zinc ion binding			central_nervous_system(1)	1						CCTGGACCACGAGGCCTGTGC	0.701000												
SEC14L4	284904	broad.mit.edu	37	22	30891933	30891933	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:30891933G>A	uc003aid.2	-	3	256	c.156C>T	c.(154-156)TCC>TCT	p.S52S	SEC14L4_uc011akz.1_Silent_p.S52S|SEC14L4_uc003aie.2_Missense_Mutation_p.P21L|SEC14L4_uc003aif.2_5'UTR	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	52						integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	GCATGTCTTCGGATTTCTGCA	0.498000												
SMTN	6525	broad.mit.edu	37	22	31491333	31491333	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:31491333G>A	uc003ajl.1	+	12	1895	c.1677G>A	c.(1675-1677)GCG>GCA	p.A559A	SMTN_uc003ajk.1_Silent_p.A559A|SMTN_uc003ajm.1_Silent_p.A559A|SMTN_uc011ale.1_Silent_p.A644A|SMTN_uc011alf.1_Silent_p.A615A|SMTN_uc003ajn.1_Silent_p.A582A|SMTN_uc011alg.1_Silent_p.A15A|SMTN_uc003ajo.1_Silent_p.A158A|SMTN_uc011alh.1_RNA|SMTN_uc010gwe.1_Silent_p.A15A	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	559					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						CAGTGGAAGCGGCCAATGGGG	0.582000												
MYH9	4627	broad.mit.edu	37	22	36698705	36698705	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:36698705T>C	uc003apg.2	-	20	2639	c.2408A>G	c.(2407-2409)CAG>CGG	p.Q803R	MYH9_uc003aph.1_Missense_Mutation_p.Q667R	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	803	IQ.				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						AAGCTGCTGCTGCCGCTTGGC	0.597000			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
GGA1	26088	broad.mit.edu	37	22	38021822	38021822	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:38021822T>C	uc003atc.2	+	11	1324	c.959T>C	c.(958-960)CTG>CCG	p.L320P	GGA1_uc003atd.2_Intron|GGA1_uc003ate.2_Missense_Mutation_p.L320P|GGA1_uc003atf.2_Missense_Mutation_p.L247P	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN	golgi associated, gamma adaptin ear containing,	320	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|ovary(1)	3	Melanoma(58;0.0574)					TCGGCCCTGCTGGATCTCTCA	0.667000												
PICK1	9463	broad.mit.edu	37	22	38470380	38470380	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:38470380C>T	uc003auq.2	+	12	1291	c.901C>T	c.(901-903)CGC>TGC	p.R301C	PICK1_uc003aur.2_Missense_Mutation_p.R301C|PICK1_uc003aus.2_Missense_Mutation_p.R301C|PICK1_uc003aut.2_Missense_Mutation_p.R301C	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	301	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					CCTGCGCTGCCGCCAGGAGGC	0.687000											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DNAL4	10126	broad.mit.edu	37	22	39175613	39175613	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:39175613G>A	uc003awj.2	-	4	387	c.159C>T	c.(157-159)GCC>GCT	p.A53A	SUN2_uc010gxr.1_Intron	NM_005740	NP_005731	O96015	DNAL4_HUMAN	dynein light chain 4, axonemal	53					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity				0	Melanoma(58;0.04)					TCATCTTGGCGGCGCTCTGGA	0.587000												
POLDIP3	84271	broad.mit.edu	37	22	43010846	43010846	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:43010846C>T	uc003bcu.2	-	1	117	c.18G>A	c.(16-18)CTG>CTA	p.L6L	POLDIP3_uc003bcv.2_Silent_p.L6L|POLDIP3_uc011apq.1_Silent_p.L6L|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Silent_p.L6L	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	DNA polymerase delta interacting protein 3	6					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding				0						TGAGTTCGTCCAGGGAGATGT	0.657000												
SCUBE1	80274	broad.mit.edu	37	22	43735179	43735179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:43735179G>A	uc003bdt.1	-	2	239	c.151C>T	c.(151-153)CAG>TAG	p.Q51*	SCUBE1_uc003bdu.1_Nonsense_Mutation_p.Q51*	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	51	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GGCGTGTTCTGACAGATGGCA	0.597000												
CELSR1	9620	broad.mit.edu	37	22	46860057	46860057	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:46860057C>T	uc003bhw.1	-	2	3730	c.3730G>A	c.(3730-3732)GTC>ATC	p.V1244I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1244	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGTTGAAGACGAAGACGTCG	0.642000												
TBC1D22A	25771	broad.mit.edu	37	22	47274558	47274558	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:47274558G>A	uc003bib.2	+	5	782	c.647G>A	c.(646-648)CGG>CAG	p.R216Q	TBC1D22A_uc010haf.2_Missense_Mutation_p.R186Q|TBC1D22A_uc003bic.2_Missense_Mutation_p.R157Q|TBC1D22A_uc003bie.2_Missense_Mutation_p.R138Q|TBC1D22A_uc003bid.2_Intron|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.R169Q	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	216						intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAGGAATTACGGAGGTTGAGC	0.488000												
TUBGCP6	85378	broad.mit.edu	37	22	50658779	50658779	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:50658779C>T	uc003bkb.1	-	16	4521	c.4009G>A	c.(4009-4011)GGG>AGG	p.G1337R	TUBGCP6_uc003bka.1_Missense_Mutation_p.G424R|TUBGCP6_uc010har.1_Missense_Mutation_p.G1329R|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1337					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)		CTCCCCTCCCCGCAGCCCGAG	0.652000												
SBF1	6305	broad.mit.edu	37	22	50901738	50901738	+	Missense_Mutation	SNP	C	C	T	rs146850293	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:50901738C>T	uc003blh.2	-	16	2068	c.1873G>A	c.(1873-1875)GTC>ATC	p.V625I	SBF1_uc011arx.1_Missense_Mutation_p.V289I|SBF1_uc003bli.2_Missense_Mutation_p.V626I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	625					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)		ATCATACGGACGACAAAGTCA	0.627000												
CPNE9	151835	broad.mit.edu	37	3	9767682	9767682	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:9767682A>G	uc003bsd.2	+	17	1462	c.1291A>G	c.(1291-1293)ATC>GTC	p.I431V		NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	copine-like protein	431	VWFA.									ovary(2)	2	Medulloblastoma(99;0.227)					TCTGCTCATCATCACTGATGG	0.428000												
NUP210	23225	broad.mit.edu	37	3	13461671	13461671	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:13461671G>A	uc003bxv.1	-	1	139	c.56C>T	c.(55-57)GCG>GTG	p.A19V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	19					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GGAGGGGCCCGCCGCCAACAG	0.473000												
SLC6A6	6533	broad.mit.edu	37	3	14489115	14489115	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:14489115T>C	uc010heg.2	+	12	681	c.390T>C	c.(388-390)ATT>ATC	p.I130I	SLC6A6_uc003byp.2_Silent_p.I130I|SLC6A6_uc010hef.1_RNA|SLC6A6_uc003byq.2_Silent_p.I130I|SLC6A6_uc003byr.2_RNA	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	130	Helical; Name=3; (Potential).				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1						CCGTTGTAATTGTGTCCCTCC	0.542000												
PDCD6IP	10015	broad.mit.edu	37	3	33907950	33907950	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:33907950C>T	uc003cfx.2	+	18	2695	c.2540C>T	c.(2539-2541)CCG>CTG	p.P847L	PDCD6IP_uc003cfy.2_Missense_Mutation_p.P852L|PDCD6IP_uc011axw.1_Missense_Mutation_p.P628L	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	847	Pro-rich.|Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						GCTCCATACCCGGGACCCCAG	0.522000												
DCLK3	85443	broad.mit.edu	37	3	36763063	36763063	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:36763063A>G	uc003cgi.2	-	3	2031	c.1540T>C	c.(1540-1542)TGT>CGT	p.C514R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	514	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						GGGGTCCCACACACAGTAAAT	0.418000												
TRANK1	9881	broad.mit.edu	37	3	36872969	36872969	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:36872969C>T	uc003cgj.2	-	12	6625	c.6323G>A	c.(6322-6324)CGA>CAA	p.R2108Q		NM_014831	NP_055646	O15050	TRNK1_HUMAN	lupus brain antigen 1	2658					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|central_nervous_system(1)	2						GACGTGGTCTCGGTCTTCTAA	0.532000												
HHATL	57467	broad.mit.edu	37	3	42735292	42735292	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:42735292A>G	uc003clw.2	-	11	1212	c.1065T>C	c.(1063-1065)ATT>ATC	p.I355I	HHATL_uc003clx.2_Silent_p.I355I	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	355					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				ovary(3)	3				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCTCCCCACCAATGTGGTTAT	0.557000												
PTH1R	5745	broad.mit.edu	37	3	46943283	46943283	+	Missense_Mutation	SNP	G	G	A	rs148778122		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:46943283G>A	uc003cqm.2	+	13	1347	c.1144G>A	c.(1144-1146)GTC>ATC	p.V382I	PTH1R_uc003cqn.2_Missense_Mutation_p.V382I	NM_000316	NP_000307	Q03431	PTH1R_HUMAN	parathyroid hormone receptor 1 precursor	382	Helical; Name=5; (Potential).					cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)	1						CATCAATATCGTCCGGGTGCT	0.667000									Ollier_disease_/_Maffuci_syndrome			
ARIH2	10425	broad.mit.edu	37	3	49004695	49004695	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49004695C>T	uc003cvb.2	+	6	837	c.525C>T	c.(523-525)GAC>GAT	p.D175D	ARIH2_uc003cvc.2_Silent_p.D175D|ARIH2_uc003cvf.2_Silent_p.D93D|ARIH2_uc010hkl.2_Silent_p.D175D	NM_006321	NP_006312	O95376	ARI2_HUMAN	ariadne homolog 2	175	RING-type 1; atypical.				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)		TCGTCAAGGACGGCGTGGGCG	0.488000												
DAG1	1605	broad.mit.edu	37	3	49548245	49548245	+	Missense_Mutation	SNP	T	T	G	rs149218670	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49548245T>G	uc003cxc.3	+	2	696	c.278T>G	c.(277-279)ATC>AGC	p.I93S		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	93	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGTGGAGATATCATCAAGGTG	0.448000												
CDHR4	389118	broad.mit.edu	37	3	49836474	49836474	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49836474T>C	uc010hkz.2	-	3	365	c.356A>G	c.(355-357)CAG>CGG	p.Q119R	CDHR4_uc003cxp.2_Missense_Mutation_p.Q119R|CDHR4_uc011bcw.1_Missense_Mutation_p.Q119R	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	cadherin-like 29 precursor	119	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0						AAGGTCCCGCTGCACATCCAC	0.592000												
MST1R	4486	broad.mit.edu	37	3	49929015	49929015	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:49929015T>C	uc003cxy.3	-	16	3617	c.3353_splice	c.e16-1	p.R1118_splice	MST1R_uc011bdc.1_Splice_Site	NM_002447	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor precursor						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)		CTGTGATGCCTGCAGAGCAGC	0.572000												
ITIH4	3700	broad.mit.edu	37	3	52854794	52854794	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:52854794C>T	uc003dfz.2	-	13	1723	c.1687G>A	c.(1687-1689)GCA>ACA	p.A563T	ITIH4_uc011bel.1_Missense_Mutation_p.A293T|ITIH4_uc003dfy.2_Missense_Mutation_p.A427T|ITIH4_uc011bem.1_Missense_Mutation_p.A563T|ITIH4_uc011ben.1_Missense_Mutation_p.A563T	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	563					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCATCGGATGCGGAGACACTG	0.532000											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL17RD	54756	broad.mit.edu	37	3	57132299	57132299	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:57132299C>T	uc003dil.2	-	12	1521	c.1432G>A	c.(1432-1434)GTC>ATC	p.V478I	IL17RD_uc003dik.2_Missense_Mutation_p.V454I|IL17RD_uc010hna.2_Missense_Mutation_p.V334I|IL17RD_uc011bex.1_Missense_Mutation_p.V334I	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	478	SEFIR.|Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TCAAAGTAGACGGCGATAAAC	0.557000												
PXK	54899	broad.mit.edu	37	3	58351616	58351616	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:58351616G>A	uc003djz.1	+	2	217	c.118G>A	c.(118-120)GTG>ATG	p.V40M	PXK_uc003djx.1_Missense_Mutation_p.V40M|PXK_uc003djy.1_Intron|PXK_uc003dka.1_Missense_Mutation_p.V40M|PXK_uc003dkb.1_Intron|PXK_uc003dkc.1_Intron|PXK_uc011bfe.1_Intron|PXK_uc010hnj.1_Intron|PXK_uc003dkd.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	40	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TATTATTCGAGTGCAAAGAGG	0.303000												
PXK	54899	broad.mit.edu	37	3	58376325	58376325	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:58376325G>A	uc003djz.1	+	5	504	c.405G>A	c.(403-405)CAG>CAA	p.Q135Q	PXK_uc003djx.1_Silent_p.Q135Q|PXK_uc003djy.1_Silent_p.Q118Q|PXK_uc003dka.1_Silent_p.Q135Q|PXK_uc003dkb.1_Silent_p.Q52Q|PXK_uc003dkc.1_Silent_p.Q118Q|PXK_uc011bfe.1_Silent_p.Q102Q|PXK_uc010hnj.1_Silent_p.Q102Q|PXK_uc003dkd.1_5'UTR|PXK_uc010hnk.1_Intron	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	135	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCTTGCAACAGGTTTCCATGT	0.403000												
ADAMTS9	56999	broad.mit.edu	37	3	64580100	64580100	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:64580100A>G	uc003dmg.2	-	28	4222	c.4190T>C	c.(4189-4191)CTG>CCG	p.L1397P	ADAMTS9_uc011bfo.1_Missense_Mutation_p.L1369P|ADAMTS9_uc003dmh.1_Missense_Mutation_p.L1226P|ADAMTS9_uc011bfp.1_Missense_Mutation_p.L308P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1397	TSP type-1 10.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCACCACACAGCTTAGTGCA	0.443000												
LRIG1	26018	broad.mit.edu	37	3	66433766	66433766	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:66433766C>T	uc003dmx.2	-	15	2145	c.2131G>A	c.(2131-2133)GCC>ACC	p.A711T	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A331T|LRIG1_uc003dmw.2_Missense_Mutation_p.A377T|LRIG1_uc010hnz.2_Missense_Mutation_p.A427T|LRIG1_uc010hoa.2_Missense_Mutation_p.A688T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	711	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATTGGAGGGCCACTGTTTCT	0.597000												
ROBO2	6092	broad.mit.edu	37	3	77617584	77617584	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:77617584C>T	uc003dpy.3	+	13	2613	c.1970C>T	c.(1969-1971)ACG>ATG	p.T657M	ROBO2_uc003dpz.2_Missense_Mutation_p.T661M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T661M	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2	657	Fibronectin type-III 2.|Extracellular (Potential).				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTCACATGGACGGTAAGCTTT	0.438000												
CRYBG3	131544	broad.mit.edu	37	3	97596423	97596423	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:97596423T>C	uc003drx.2	+	1	605	c.541T>C	c.(541-543)TCA>CCA	p.S181P		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						CCTTCTCCAGTCAGTGTCAGA	0.458000												
MYH15	22989	broad.mit.edu	37	3	108220694	108220694	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:108220694G>A	uc003dxa.1	-	4	321	c.264C>T	c.(262-264)AGC>AGT	p.S88S		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	88	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CCTCCTTTATGCTCAGACTCT	0.393000												
ABHD10	55347	broad.mit.edu	37	3	111700631	111700631	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:111700631C>A	uc003dyk.3	+	2	224	c.143C>A	c.(142-144)GCT>GAT	p.A48D	ABHD10_uc011bhq.1_Intron	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	48						mitochondrion	serine-type peptidase activity				0						CTTTGTTTAGCTTGTAGACAA	0.338000												
CCDC80	151887	broad.mit.edu	37	3	112357944	112357944	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:112357944T>A	uc003dzf.2	-	2	1027	c.809A>T	c.(808-810)GAG>GTG	p.E270V	CCDC80_uc011bhv.1_Missense_Mutation_p.E270V|CCDC80_uc003dzg.2_Missense_Mutation_p.E270V|CCDC80_uc003dzh.1_Missense_Mutation_p.E270V	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	steroid-sensitive protein 1 precursor	270										ovary(2)	2						CCTGATCTTCTCGATCCTACG	0.587000												
SIDT1	54847	broad.mit.edu	37	3	113320472	113320472	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:113320472C>T	uc003eak.2	+	11	1734	c.1083C>T	c.(1081-1083)GCC>GCT	p.A361A	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.A361A|SIDT1_uc011big.1_Silent_p.A114A|SIDT1_uc011bih.1_5'Flank	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	361	Cytoplasmic (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CCATTGCTGCCAGCACACCCG	0.413000												
SIDT1	54847	broad.mit.edu	37	3	113329946	113329946	+	Silent	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:113329946C>A	uc003eak.2	+	18	2463	c.1812C>A	c.(1810-1812)GCC>GCA	p.A604A	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Silent_p.A604A|SIDT1_uc011big.1_Silent_p.A357A|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_Silent_p.A57A	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	604	Helical; (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CCTACTCTGCCTATGCCTCCT	0.577000												
KIAA2018	205717	broad.mit.edu	37	3	113375167	113375167	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:113375167G>T	uc003eam.2	-	7	5773	c.5362C>A	c.(5362-5364)CGT>AGT	p.R1788S	KIAA2018_uc003eal.2_Missense_Mutation_p.R1732S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1788					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						CTCTTTTGACGGTCAATTGGT	0.428000												
PDIA5	10954	broad.mit.edu	37	3	122808030	122808030	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:122808030T>C	uc003egc.1	+	2	114	c.58T>C	c.(58-60)TGG>CGG	p.W20R	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	20					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)		CCTGCCATCATGGCTGTCCTC	0.532000												
ADCY5	111	broad.mit.edu	37	3	123022987	123022987	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:123022987C>T	uc003egh.1	-	13	2486	c.2486G>A	c.(2485-2487)CGG>CAG	p.R829Q	ADCY5_uc003egg.1_Missense_Mutation_p.R462Q|ADCY5_uc003egi.1_Missense_Mutation_p.R388Q	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	829					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)		CATCTTGGACCGCACGATCTT	0.408000												
MYLK	4638	broad.mit.edu	37	3	123383021	123383021	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:123383021C>T	uc003ego.2	-	23	4198	c.3916G>A	c.(3916-3918)GGC>AGC	p.G1306S	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.G106S|MYLK_uc011bjw.1_Missense_Mutation_p.G1306S|MYLK_uc003egp.2_Missense_Mutation_p.G1237S|MYLK_uc003egq.2_Missense_Mutation_p.G1306S|MYLK_uc003egr.2_Missense_Mutation_p.G1237S|MYLK_uc003egs.2_Missense_Mutation_p.G1130S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1306	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTGTAGCAGCCGCAGTGCTCC	0.622000												
KALRN	8997	broad.mit.edu	37	3	124103833	124103833	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:124103833C>T	uc003ehg.2	+	11	2033	c.1906C>T	c.(1906-1908)CGG>TGG	p.R636W	KALRN_uc010hrv.1_Missense_Mutation_p.R636W|KALRN_uc003ehf.1_Missense_Mutation_p.R636W|KALRN_uc011bjy.1_Missense_Mutation_p.R636W|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	636	Spectrin 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GGTGGAGCAGCGGAAGCTTCT	0.587000												
MCM2	4171	broad.mit.edu	37	3	127339709	127339709	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:127339709C>T	uc003ejp.2	+	14	2491	c.2434C>T	c.(2434-2436)CGC>TGC	p.R812C	MCM2_uc011bkm.1_Missense_Mutation_p.R682C|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R765C	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	812					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						CAGCGTCATGCGCAGCATGCG	0.597000												
KBTBD12	166348	broad.mit.edu	37	3	127642066	127642066	+	Silent	SNP	T	T	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:127642066T>A	uc010hsr.2	+	1	165	c.162T>A	c.(160-162)CCT>CCA	p.P54P	KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_5'Flank|KBTBD12_uc003ejz.2_Silent_p.P54P	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	kelch domain containing 6	54	BTB.									ovary(1)	1						CATTTAGCCCTTATTTCAAAG	0.393000												
COPG	22820	broad.mit.edu	37	3	128991652	128991652	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:128991652G>A	uc003els.2	+	21	2261	c.2161G>A	c.(2161-2163)GCC>ACC	p.A721T	COPG_uc010htb.2_Missense_Mutation_p.A627T	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	721	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4						CCCCACAGTGGCCTGCACATT	0.567000												
DNAJC13	23317	broad.mit.edu	37	3	132193882	132193882	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:132193882G>A	uc003eor.2	+	22	2463	c.2398G>A	c.(2398-2400)GAA>AAA	p.E800K		NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	800							heat shock protein binding			ovary(1)|breast(1)	2						TATTGACAGAGAACTTGGAAG	0.338000												
DZIP1L	199221	broad.mit.edu	37	3	137822381	137822381	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:137822381G>A	uc003erq.2	-	2	796	c.433C>T	c.(433-435)CGG>TGG	p.R145W	DZIP1L_uc003err.1_Missense_Mutation_p.R145W	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	DAZ interacting protein 1-like	145						intracellular	zinc ion binding			ovary(1)|pancreas(1)	2						TTGCGACGCCGGCGGCTCTCC	0.662000												
DBR1	51163	broad.mit.edu	37	3	137886126	137886126	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:137886126A>C	uc003erv.2	-	5	647	c.511T>G	c.(511-513)TTC>GTC	p.F171V	DBR1_uc003eru.2_Missense_Mutation_p.F120V	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	171						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						TGAGACAAGAATATATCTATA	0.333000												
MRAS	22808	broad.mit.edu	37	3	138116242	138116242	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:138116242C>T	uc003esh.3	+	3	831	c.270C>T	c.(268-270)ATC>ATT	p.I90I	MRAS_uc011bmi.1_Silent_p.I14I|MRAS_uc003esi.3_Silent_p.I90I|MRAS_uc011bmj.1_Silent_p.I14I	NM_012219	NP_036351	O14807	RASM_HUMAN	muscle RAS oncogene homolog precursor	90					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.I90M(1)		lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						GCTTCCTCATCGTCTACTCCG	0.582000												
XRN1	54464	broad.mit.edu	37	3	142142403	142142403	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:142142403G>A	uc003eus.2	-	6	776	c.709C>T	c.(709-711)CGG>TGG	p.R237W	XRN1_uc003eut.2_Missense_Mutation_p.R237W|XRN1_uc003euu.2_Missense_Mutation_p.R237W|XRN1_uc003euv.1_Missense_Mutation_p.R98W|XRN1_uc003euw.2_Missense_Mutation_p.R237W|XRN1_uc011bnh.1_Missense_Mutation_p.R27W	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a	237					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						ATAATTTACCGTTGTGTTTTT	0.229000												
PAQR9	344838	broad.mit.edu	37	3	142681449	142681449	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:142681449T>C	uc003evg.2	-	1	730	c.730A>G	c.(730-732)ACC>GCC	p.T244A	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	244	Helical; (Potential).					integral to membrane	receptor activity				0						AAGACGAAGGTGCGCAGCGCG	0.637000												
SIAH2	6478	broad.mit.edu	37	3	150480304	150480304	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:150480304G>A	uc003eyi.2	-	1	960	c.333C>T	c.(331-333)TGC>TGT	p.C111C		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	111	RING-type.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCACGTCGGGCAGCAGCTCA	0.612000												
AADACL2	344752	broad.mit.edu	37	3	151463416	151463416	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:151463416G>A	uc003ezc.2	+	4	671	c.551G>A	c.(550-552)TGC>TAC	p.C184Y	AADACL2_uc010hvn.2_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	184						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCCGAATCTGCATTGCGGGA	0.368000												
GMPS	8833	broad.mit.edu	37	3	155652794	155652794	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:155652794G>A	uc003faq.2	+	14	2101	c.1766G>A	c.(1765-1767)CGC>CAC	p.R589H	GMPS_uc011bom.1_Missense_Mutation_p.R490H	NM_003875	NP_003866	P49915	GUAA_HUMAN	guanine monophosphate synthetase	589					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			ovary(2)|lung(1)	3			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGTACTTTACGCCAAGCTGAT	0.408000			T	MLL	AML							
TIPARP	25976	broad.mit.edu	37	3	156413783	156413783	+	Missense_Mutation	SNP	C	C	T	rs17854621		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:156413783C>T	uc003fav.2	+	4	1464	c.1216C>T	c.(1216-1218)CGC>TGC	p.R406C	TIPARP_uc003faw.2_Missense_Mutation_p.R406C	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	406	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|breast(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCCCTCTTCCGCTCCTGTTT	0.388000												
SLC2A2	6514	broad.mit.edu	37	3	170725022	170725022	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:170725022A>G	uc003fhe.1	-	5	836	c.527T>C	c.(526-528)ATC>ACC	p.I176T	SLC2A2_uc003fhf.1_Missense_Mutation_p.I3T|SLC2A2_uc011bpu.1_Missense_Mutation_p.I49T	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	176	Helical; Name=4; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AATTTCACCGATATACATAGG	0.423000												
ATP11B	23200	broad.mit.edu	37	3	182597414	182597414	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:182597414A>G	uc003flb.2	+	20	2640	c.2383A>G	c.(2383-2385)ATG>GTG	p.M795V	ATP11B_uc003flc.2_Missense_Mutation_p.M379V|ATP11B_uc011bqm.1_Missense_Mutation_p.M99V|ATP11B_uc010hxf.1_5'UTR	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	795	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGCTGTCGTATGGCTCCACT	0.353000												
HTR3D	200909	broad.mit.edu	37	3	183756689	183756689	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:183756689G>A	uc011bqv.1	+	8	1291	c.1291G>A	c.(1291-1293)GCC>ACC	p.A431T	HTR3D_uc003fmj.2_Missense_Mutation_p.A256T|HTR3D_uc011bqu.1_Missense_Mutation_p.A381T|HTR3D_uc010hxp.2_Missense_Mutation_p.A210T	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine receptor 3 subunit D isoform	431	Cytoplasmic (Potential).					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity				0	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CGCGATGGACGCCCTGCTCTT	0.607000												
FAM131A	131408	broad.mit.edu	37	3	184062665	184062665	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:184062665G>A	uc003fog.2	+	3	2279	c.915G>A	c.(913-915)ACG>ACA	p.T305T	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.T251T|FAM131A_uc003foe.2_Silent_p.T251T	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	305						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCACTAACGGGCAGCTGGG	0.627000												
KNG1	3827	broad.mit.edu	37	3	186456939	186456939	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:186456939T>C	uc011bsa.1	+	8	1194	c.982T>C	c.(982-984)TGT>CGT	p.C328R	KNG1_uc003fqr.2_Missense_Mutation_p.C328R	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	328	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GGAAACCACATGTTCCAAGGA	0.383000												
LRRC15	131578	broad.mit.edu	37	3	194080702	194080702	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194080702G>A	uc003ftu.2	-	2	1157	c.1071C>T	c.(1069-1071)GAC>GAT	p.D357D	LRRC15_uc003ftt.2_Silent_p.D363D	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	357	LRR 13.|Extracellular (Potential).					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGACGTTCCCGTCCAGGTCCT	0.587000												
GP5	2814	broad.mit.edu	37	3	194118269	194118269	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194118269G>A	uc003ftv.1	-	2	774	c.743C>T	c.(742-744)ACG>ATG	p.T248M		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	248	Extracellular (Potential).|LRR 8.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TCTCGAAAGCGTCAAAGAACT	0.572000												
LSG1	55341	broad.mit.edu	37	3	194366916	194366916	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194366916A>G	uc003fui.2	-	12	1915	c.1600T>C	c.(1600-1602)TAC>CAC	p.Y534H		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	534					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TTCAGGATGTAGCGCGCAGAT	0.453000												
FAM43A	131583	broad.mit.edu	37	3	194407806	194407806	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:194407806G>A	uc003fuj.2	+	1	1185	c.251G>A	c.(250-252)CGC>CAC	p.R84H		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	hypothetical protein LOC131583	84										central_nervous_system(1)	1	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		ATCCAGGCGCGCGGCGACGGC	0.632000												
FGFRL1	53834	broad.mit.edu	37	4	1018193	1018193	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:1018193C>T	uc003gce.2	+	6	974	c.813C>T	c.(811-813)CGC>CGT	p.R271R	FGFRL1_uc003gcf.2_Silent_p.R271R|FGFRL1_uc003gcg.2_Silent_p.R271R|FGFRL1_uc010ibo.2_Silent_p.R271R	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)			GCAAGGTGCGCAGCGACGTGA	0.662000												
FAM193A	8603	broad.mit.edu	37	4	2698298	2698298	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:2698298G>A	uc010icl.2	+	16	2963	c.2612G>A	c.(2611-2613)CGA>CAA	p.R871Q	FAM193A_uc010ick.2_Missense_Mutation_p.R1071Q|FAM193A_uc003gfd.2_Missense_Mutation_p.R871Q|FAM193A_uc011bvm.1_Missense_Mutation_p.R893Q|FAM193A_uc011bvn.1_Missense_Mutation_p.R871Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.R725Q	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	871										ovary(3)	3						GCAGCGAAGCGAGCAAGGCAT	0.552000												
HTT	3064	broad.mit.edu	37	4	3189409	3189409	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:3189409C>T	uc011bvq.1	+	40	5172	c.5027C>T	c.(5026-5028)TCG>TTG	p.S1676L		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1674					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTGTGGATATCGGGAATTCTG	0.403000												
HGFAC	3083	broad.mit.edu	37	4	3449696	3449696	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:3449696G>A	uc003ghc.2	+	12	1573	c.1570G>A	c.(1570-1572)GAG>AAG	p.E524K	HGFAC_uc010icw.2_Missense_Mutation_p.E531K	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	524	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGCCTGCCCGAGCCCGGCAG	0.662000												
ZNF518B	85460	broad.mit.edu	37	4	10445986	10445986	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:10445986G>A	uc003gmn.2	-	3	2454	c.1967C>T	c.(1966-1968)ACG>ATG	p.T656M		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						TATTTTAGACGTTGAGCTATT	0.428000												
BOD1L	259282	broad.mit.edu	37	4	13601959	13601959	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:13601959C>T	uc003gmz.1	-	10	6682	c.6565G>A	c.(6565-6567)GAC>AAC	p.D2189N	BOD1L_uc010idr.1_Missense_Mutation_p.D1526N	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2189							DNA binding			ovary(5)|breast(1)	6						CCCTCAAAGTCGGCGGTGCTT	0.532000												
SLIT2	9353	broad.mit.edu	37	4	20597371	20597371	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:20597371C>T	uc003gpr.1	+	31	3438	c.3234C>T	c.(3232-3234)GAC>GAT	p.D1078D	SLIT2_uc003gps.1_Silent_p.D1070D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1078	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1078D(1)		central_nervous_system(4)|skin(4)|ovary(3)	11						TCGATTTTGACGACTGCCAAG	0.468000												
PCDH7	5099	broad.mit.edu	37	4	30723127	30723127	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:30723127C>T	uc003gsk.1	+	1	1091	c.83C>T	c.(82-84)GCG>GTG	p.A28V	PCDH7_uc011bxw.1_Missense_Mutation_p.A28V|PCDH7_uc011bxx.1_Missense_Mutation_p.A28V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	28					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CTCAGCCTGGCGGCCGCCAAG	0.711000												
KCTD8	386617	broad.mit.edu	37	4	44449851	44449851	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:44449851C>T	uc003gwu.2	-	1	974	c.690G>A	c.(688-690)CGG>CGA	p.R230R		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	230						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						GCGCCACACGCCGGAATTTGG	0.657000										HNSCC(17;0.042)		
ATP10D	57205	broad.mit.edu	37	4	47525167	47525167	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:47525167G>A	uc003gxk.1	+	4	788	c.624G>A	c.(622-624)GAG>GAA	p.E208E	ATP10D_uc003gxj.3_Silent_p.E208E	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	208	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3						GTCACATTGAGACTTCTGGTC	0.448000												
CNGA1	1259	broad.mit.edu	37	4	47954605	47954605	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:47954605T>C	uc003gxt.3	-	4	380	c.114A>G	c.(112-114)GCA>GCG	p.A38A	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.A107A|CNGA1_uc003gxv.1_Silent_p.A38A	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	38	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TTTACCTGCATGCTCCATTTT	0.303000												
KIT	3815	broad.mit.edu	37	4	55524194	55524194	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:55524194C>T	uc010igr.2	+	1	100	c.13C>T	c.(13-15)CGC>TGC	p.R5C	KIT_uc010igs.2_Missense_Mutation_p.R5C	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	5					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGAGGCGCTCGCGGCGCCTG	0.667000		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors			
PPAT	5471	broad.mit.edu	37	4	57267591	57267591	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:57267591T>C	uc003hbr.2	-	7	993	c.791A>G	c.(790-792)CAA>CGA	p.Q264R		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	264					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATCAAGAGTTTGGACATTGTG	0.348000												
ART3	419	broad.mit.edu	37	4	77003516	77003516	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:77003516C>T	uc003hjo.2	+	3	728	c.609C>T	c.(607-609)ATC>ATT	p.I203I	ART3_uc003hji.2_Silent_p.I203I|ART3_uc003hjj.2_Silent_p.I203I|ART3_uc003hjk.2_Silent_p.I203I|ART3_uc010ija.1_Silent_p.I203I|ART3_uc003hjn.2_Silent_p.I203I|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Silent_p.I173I|ART3_uc010ijc.2_Silent_p.I173I|ART3_uc010ijd.2_Silent_p.I173I	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	203					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGTTATCCATCTACACATGCC	0.403000												
SHROOM3	57619	broad.mit.edu	37	4	77662485	77662485	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:77662485C>T	uc011cbx.1	+	5	4112	c.3159C>T	c.(3157-3159)AGC>AGT	p.S1053S	SHROOM3_uc011cbz.1_Silent_p.S877S|SHROOM3_uc003hkf.1_Silent_p.S928S|SHROOM3_uc003hkg.2_Silent_p.S831S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	1053					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)			CGGAGAGCAGCGTGGCCGACC	0.682000												
FRAS1	80144	broad.mit.edu	37	4	79188036	79188036	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:79188036C>T	uc003hlb.2	+	8	1176	c.736C>T	c.(736-738)CGG>TGG	p.R246W	FRAS1_uc003hkw.2_Missense_Mutation_p.R246W|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'UTR	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	246	VWFC 4.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						TATATGTGACCGGGGTGAGGT	0.488000												
MMRN1	22915	broad.mit.edu	37	4	90872776	90872776	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:90872776C>T	uc003hst.2	+	7	3210	c.3139C>T	c.(3139-3141)CGG>TGG	p.R1047W	MMRN1_uc010iku.2_Missense_Mutation_p.R350W|MMRN1_uc011cds.1_Missense_Mutation_p.R789W	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1047	EGF-like.				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)		AAGCTGTAGTCGGCATCCGTG	0.398000												
MTTP	4547	broad.mit.edu	37	4	100543904	100543904	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:100543904G>A	uc003hvc.3	+	19	2840	c.2584G>A	c.(2584-2586)GTA>ATA	p.V862I	MTTP_uc011cej.1_Missense_Mutation_p.V889I	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	862					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)	AAAAGAAAGCGTATTAGCAGG	0.443000												
MANBA	4126	broad.mit.edu	37	4	103635670	103635670	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:103635670C>T	uc003hwg.2	-	5	698	c.598G>A	c.(598-600)GGA>AGA	p.G200R	MANBA_uc011ces.1_Missense_Mutation_p.G143R	NM_005908	NP_005899	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal precursor	200					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TTCCAGATTCCCTGGGTAGGA	0.363000												
LEF1	51176	broad.mit.edu	37	4	108999528	108999528	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:108999528G>A	uc003hyt.1	-	8	1511	c.856C>T	c.(856-858)CAT>TAT	p.H286Y	LEF1_uc011cfj.1_Missense_Mutation_p.H143Y|LEF1_uc011cfk.1_Missense_Mutation_p.H190Y|LEF1_uc003hyu.1_Missense_Mutation_p.H258Y|LEF1_uc003hyv.1_Missense_Mutation_p.H258Y|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	286					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTCTGTTCATGCTGAGGCTTC	0.478000												
PRDM5	11107	broad.mit.edu	37	4	121843685	121843685	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:121843685G>A	uc003idn.2	-	1	329	c.79C>T	c.(79-81)CGC>TGC	p.R27C	PRDM5_uc003ido.2_Missense_Mutation_p.R27C|PRDM5_uc010ine.2_Missense_Mutation_p.R27C|PRDM5_uc010inf.2_Missense_Mutation_p.R27C|PRDM5_uc003idp.1_Missense_Mutation_p.R27C	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	27	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CGCACTCTGCGGGCCGTGTAG	0.652000												
ANKRD50	57182	broad.mit.edu	37	4	125592251	125592251	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:125592251G>A	uc003ifg.3	-	3	2447	c.2181C>T	c.(2179-2181)CAC>CAT	p.H727H	ANKRD50_uc011cgo.1_Silent_p.H548H|ANKRD50_uc010inw.2_Silent_p.H727H	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	727	ANK 8.									central_nervous_system(1)	1						CAACTGATGCGTGCCCTTTAC	0.468000												
PHF17	79960	broad.mit.edu	37	4	129773352	129773352	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:129773352T>C	uc003igk.2	+	6	905	c.625T>C	c.(625-627)TGC>CGC	p.C209R	PHF17_uc003igj.2_Missense_Mutation_p.C209R|PHF17_uc003igl.2_Missense_Mutation_p.C197R|PHF17_uc011cgy.1_Missense_Mutation_p.C209R|PHF17_uc003igm.2_Missense_Mutation_p.C209R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	209	PHD-type 1.				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						CTGTGATGTCTGCCAGTCTCC	0.493000												
TBC1D9	23158	broad.mit.edu	37	4	141590817	141590817	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:141590817G>A	uc010ioj.2	-	8	1680	c.1408C>T	c.(1408-1410)CGG>TGG	p.R470W		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	470						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCGGGAGACCGCCGCCGATAC	0.488000												
USP38	84640	broad.mit.edu	37	4	144106875	144106875	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:144106875A>G	uc003ijb.2	+	1	806	c.272A>G	c.(271-273)CAG>CGG	p.Q91R	USP38_uc003ija.3_Missense_Mutation_p.Q91R|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	91					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					CTCCTTCATCAGGGCTACCAC	0.567000												
MAB21L2	10586	broad.mit.edu	37	4	151505070	151505070	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:151505070G>T	uc003ilw.2	+	1	1994	c.889G>T	c.(889-891)GGC>TGC	p.G297C	LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	mab-21-like protein 2	297					nervous system development	nucleus				ovary(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GTCGTGCCTGGGCGACCGGCT	0.617000												
DCHS2	54798	broad.mit.edu	37	4	155254527	155254527	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:155254527C>T	uc003inw.2	-	9	1336	c.1336G>A	c.(1336-1338)GTG>ATG	p.V446M	DCHS2_uc003inx.2_Missense_Mutation_p.V945M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	446	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCACAACCACGGGCTGCGTC	0.602000												
DDX60	55601	broad.mit.edu	37	4	169227858	169227858	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:169227858G>A	uc003irp.2	-	5	570	c.278C>T	c.(277-279)GCG>GTG	p.A93V		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	93							ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTGAAATACGCATACTCGGC	0.368000												
SLC12A7	10723	broad.mit.edu	37	5	1057726	1057726	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:1057726G>A	uc003jbu.2	-	22	2952	c.2886C>T	c.(2884-2886)ACC>ACT	p.T962T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	962	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTGCCGCCGCGGTGTGGGACG	0.652000												
ITGA1	3672	broad.mit.edu	37	5	52214676	52214676	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:52214676A>G	uc003jou.2	+	16	2155	c.2103A>G	c.(2101-2103)ACA>ACG	p.T701T	ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.T232T	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	701	Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAAATGCTACAGTGTGTTTTG	0.328000												
MARVELD2	153562	broad.mit.edu	37	5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:68716104G>A	uc003jwq.2	+	2	951	c.892G>A	c.(892-894)GTT>ATT	p.V298I	MARVELD2_uc010ixf.2_Missense_Mutation_p.V298I|MARVELD2_uc003jwr.1_Missense_Mutation_p.V298I|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	298	MARVEL.|Helical; (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423000												
VCAN	1462	broad.mit.edu	37	5	82816265	82816265	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:82816265G>A	uc003kii.3	+	7	2496	c.2140G>A	c.(2140-2142)GGA>AGA	p.G714R	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G714R|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	714	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)		TCCATTTATGGGAAAAACAGA	0.368000												
NR2F1	7025	broad.mit.edu	37	5	92924138	92924138	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:92924138C>T	uc003kkj.2	+	2	2666	c.979C>T	c.(979-981)CTG>TTG	p.L327L		NM_005654	NP_005645	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	327					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			urinary_tract(1)|ovary(1)|lung(1)	3		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGCCATCGTGCTGTTCACGTC	0.428000												
SLCO4C1	353189	broad.mit.edu	37	5	101606375	101606375	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:101606375G>A	uc003knm.2	-	3	1042	c.755C>T	c.(754-756)GCC>GTC	p.A252V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	252	Helical; Name=4; (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATCAAGAAAGGCTGTTCCCAG	0.388000												
HSD17B4	3295	broad.mit.edu	37	5	118829515	118829515	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:118829515C>T	uc003ksj.2	+	11	865	c.742C>T	c.(742-744)CGC>TGC	p.R248C	HSD17B4_uc011cwg.1_Missense_Mutation_p.R224C|HSD17B4_uc011cwh.1_Missense_Mutation_p.R230C|HSD17B4_uc011cwi.1_Missense_Mutation_p.R273C|HSD17B4_uc003ksk.3_Missense_Mutation_p.R101C|HSD17B4_uc011cwj.1_Missense_Mutation_p.R101C|HSD17B4_uc010jcn.1_Translation_Start_Site	NM_000414	NP_000405	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	248	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			ovary(1)|pancreas(1)	2		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	ATAACCAGTACGCTGGGAGCG	0.398000												
ADAMTS19	171019	broad.mit.edu	37	5	128797351	128797351	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:128797351G>A	uc003kvb.1	+	2	630	c.630G>A	c.(628-630)CCG>CCA	p.P210P	ADAMTS19_uc003kvc.1_RNA	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1	210	Pro-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|breast(2)|lung(1)|skin(1)	9		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CATCCGCCCCGCAACCTCCCG	0.711000												
CHSY3	337876	broad.mit.edu	37	5	129241306	129241306	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:129241306G>A	uc003kvd.2	+	1	784	c.784G>A	c.(784-786)GAC>AAC	p.D262N		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	262	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(2)|pancreas(1)	3		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCGCGCCGACGACGATGTCTA	0.567000												
IL13	3596	broad.mit.edu	37	5	131993886	131993886	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:131993886C>T	uc003kxj.1	+	1	22	c.8C>T	c.(7-9)CCG>CTG	p.P3L		NM_002188	NP_002179	P35225	IL13_HUMAN	interleukin 13 precursor	3					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			ovary(1)|skin(1)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTATGCATCCGCTCCTCAAT	0.582000											OREG0003464	type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
PCDHA7	56141	broad.mit.edu	37	5	140215251	140215251	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:140215251G>A	uc003lhq.2	+	1	1283	c.1283G>A	c.(1282-1284)CGG>CAG	p.R428Q	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R428Q	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	428	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTACCGCGCGGGACGGGGGC	0.617000												
PCDH1	5097	broad.mit.edu	37	5	141242842	141242842	+	Silent	SNP	G	G	A	rs149883982		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:141242842G>A	uc003llq.2	-	3	3171	c.3054C>T	c.(3052-3054)TCC>TCT	p.S1018S	PCDH1_uc003llp.2_Silent_p.S1018S|PCDH1_uc011dbf.1_Silent_p.S996S	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	1018	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGCTGTAGTCGGAGTACTGCT	0.632000												
POU4F3	5459	broad.mit.edu	37	5	145719765	145719765	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:145719765T>C	uc003loa.2	+	2	864	c.775T>C	c.(775-777)TAC>CAC	p.Y259H		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	259					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGGCCGCCTACCGAGAGAA	0.607000												
CSF1R	1436	broad.mit.edu	37	5	149447865	149447865	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149447865G>T	uc003lrl.2	-	10	1734	c.1539C>A	c.(1537-1539)TTC>TTA	p.F513L	CSF1R_uc011dcd.1_Missense_Mutation_p.F365L|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.F513L	NM_005211	NP_005202	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor precursor	513	Helical; (Potential).				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTGTGAAGAGGAACTCATCCG	0.498000												
PDGFRB	5159	broad.mit.edu	37	5	149513265	149513265	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149513265C>T	uc003lro.2	-	6	1287	c.818G>A	c.(817-819)CGC>CAC	p.R273H	PDGFRB_uc010jhd.2_Missense_Mutation_p.R112H|PDGFRB_uc011dcg.1_Missense_Mutation_p.R273H	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	273	Extracellular (Potential).|Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGATGGAGCGGATGTGGTA	0.582000			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
SLC6A7	6534	broad.mit.edu	37	5	149576672	149576672	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149576672C>T	uc003lrr.2	+	4	788	c.417C>T	c.(415-417)TAC>TAT	p.Y139Y		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	139	Extracellular (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCATCGCCTACGTGCTCTTCT	0.617000												
ITK	3702	broad.mit.edu	37	5	156668718	156668718	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:156668718G>T	uc003lwo.1	+	11	1130	c.1048G>T	c.(1048-1050)GGG>TGG	p.G350W		NM_005546	NP_005537	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	350					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1)	26	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTACAGCAGGGCTGAGATA	0.502000			T	SYK	peripheral T-cell lymphoma							
LCP2	3937	broad.mit.edu	37	5	169714973	169714973	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:169714973C>T	uc003man.1	-	3	395	c.188_splice	c.e3+1	p.P63_splice	LCP2_uc011det.1_Splice_Site	NM_005565	NP_005556	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2						immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GGAGTACTTACGGCACCCGGA	0.522000												
TLX3	30012	broad.mit.edu	37	5	170737354	170737354	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:170737354G>A	uc003mbf.2	+	2	704	c.622G>A	c.(622-624)GCG>ACG	p.A208T	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	208	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATGACGGACGCGCAGGTCAA	0.642000			T	BCL11B	T-ALL							
BNIP1	662	broad.mit.edu	37	5	172590743	172590743	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:172590743C>T	uc003mcj.3	+	6	610	c.506C>T	c.(505-507)ACG>ATG	p.T169M	BNIP1_uc003mci.3_Missense_Mutation_p.T212M|BNIP1_uc003mck.3_Missense_Mutation_p.T178M|BNIP1_uc003mcl.3_Missense_Mutation_p.T135M	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	169	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACGAACGATCCTGGAT	0.507000												
GPRIN1	114787	broad.mit.edu	37	5	176025207	176025207	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:176025207G>A	uc003meo.1	-	2	1804	c.1629C>T	c.(1627-1629)GCC>GCT	p.A543A		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	543						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAGGGGCTCGGCCTTCCCTG	0.637000												
GRK6	2870	broad.mit.edu	37	5	176863243	176863243	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:176863243C>T	uc011dfz.1	+	12	1387	c.1227C>T	c.(1225-1227)TCC>TCT	p.S409S	GRK6_uc003mgp.2_Silent_p.S409S|GRK6_uc003mgq.2_Silent_p.S409S|GRK6_uc003mgs.1_Silent_p.S379S	NM_002082	NP_002073	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6 isoform B	409	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)|stomach(1)|breast(1)	3	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTATTCCGAGCGCTTTT	0.627000												
ZNF354A	6940	broad.mit.edu	37	5	178152470	178152470	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:178152470G>A	uc003mjj.2	-	4	361	c.163C>T	c.(163-165)CTC>TTC	p.L55F		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	55	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GTAAATGGGAGCCCTGCACAT	0.433000												
ZNF454	285676	broad.mit.edu	37	5	178373922	178373922	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:178373922C>T	uc003mjo.1	+	4	456	c.185C>T	c.(184-186)ACG>ATG	p.T62M	ZNF454_uc010jkz.1_Missense_Mutation_p.T62M|ZNF454_uc003mjp.2_Silent_p.Y97Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AAACCAGATACGTTTTCCCAG	0.463000												
BPHL	670	broad.mit.edu	37	6	3140675	3140675	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:3140675C>T	uc003mva.2	+	6	769	c.720C>T	c.(718-720)CAC>CAT	p.H240H	BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Silent_p.H223H	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like precursor	240					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity				0	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGATTGTGCACGGTGAGAAGG	0.572000												
RREB1	6239	broad.mit.edu	37	6	7230385	7230385	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:7230385G>A	uc003mxc.2	+	10	2443	c.2053G>A	c.(2053-2055)GCG>ACG	p.A685T	RREB1_uc003mxb.2_Missense_Mutation_p.A685T|RREB1_uc010jnx.2_Missense_Mutation_p.A685T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	685	C2H2-type 8.				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)				CGACAAGGCCGCGCTCATCCG	0.632000												
CAGE1	285782	broad.mit.edu	37	6	7365800	7365800	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:7365800G>T	uc003mxi.2	-	7	2326	c.1605C>A	c.(1603-1605)GAC>GAA	p.D535E	CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.D453E|CAGE1_uc003mxk.1_Missense_Mutation_p.D453E	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN	cancer antigen 1	671											0	Ovarian(93;0.0418)					CTGAATCACAGTCTATGACCT	0.353000												
KIAA0319	9856	broad.mit.edu	37	6	24596335	24596335	+	Silent	SNP	C	C	T	rs148257977	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:24596335C>T	uc011djo.1	-	3	804	c.567G>A	c.(565-567)CCG>CCA	p.P189P	KIAA0319_uc011djp.1_Silent_p.P144P|KIAA0319_uc003neh.1_Silent_p.P189P|KIAA0319_uc011djq.1_Silent_p.P180P|KIAA0319_uc011djr.1_Silent_p.P189P	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	189	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2						CCTCGCTGCCCGGCAGTAGGC	0.622000												
HIST1H2BO	8348	broad.mit.edu	37	6	27861423	27861423	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:27861423C>T	uc003nkc.1	+	1	221	c.183C>T	c.(181-183)GGC>GGT	p.G61G	HIST1H3J_uc003nka.2_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	61					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGGCCATGGGCATCATGAACT	0.562000												
BRD2	6046	broad.mit.edu	37	6	32947706	32947706	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:32947706G>A	uc003ocn.3	+	11	3644	c.1943G>A	c.(1942-1944)CGG>CAG	p.R648Q	BRD2_uc003ocq.3_Missense_Mutation_p.R648Q|BRD2_uc003ocp.3_Missense_Mutation_p.R528Q|BRD2_uc010juh.2_Missense_Mutation_p.R683Q	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	648	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GATGAGAAGCGGCAGCTGAGC	0.537000												
CDKN1A	1026	broad.mit.edu	37	6	36652259	36652259	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:36652259T>C	uc003omm.3	+	2	503	c.381T>C	c.(379-381)GCT>GCC	p.A127A	CDKN1A_uc011dtq.1_Silent_p.A161A|CDKN1A_uc003oml.2_Silent_p.A127A|CDKN1A_uc003omn.2_Silent_p.A127A	NM_000389	NP_000380	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A	127					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			ovary(1)|breast(1)	2						GGGAGCAGGCTGAAGGGTCCC	0.612000									Multiple_Endocrine_Neoplasia_type_1			
FOXP4	116113	broad.mit.edu	37	6	41553174	41553174	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:41553174G>A	uc003oql.2	+	5	887	c.429G>A	c.(427-429)CAG>CAA	p.Q143Q	FOXP4_uc003oqm.2_Splice_Site_p.E142_splice|FOXP4_uc003oqn.2_Silent_p.Q143Q	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	143	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCAGCTACAGGAGTACTACA	0.632000												
PPP2R5D	5528	broad.mit.edu	37	6	42974387	42974387	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:42974387C>T	uc003oth.2	+	3	378	c.292C>T	c.(292-294)CGG>TGG	p.R98W	MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Intron|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	NM_006245	NP_006236	Q14738	2A5D_HUMAN	delta isoform of regulatory subunit B56, protein	98					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(1)|central_nervous_system(1)	2			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGCAAGAATCGGGAGCTGCA	0.562000												
KLHDC3	116138	broad.mit.edu	37	6	42985381	42985381	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:42985381C>T	uc003otl.2	+	3	448	c.279C>T	c.(277-279)GGC>GGT	p.G93G	KLHDC3_uc003otm.2_RNA|KLHDC3_uc010jyf.2_Silent_p.G93G|KLHDC3_uc003otn.2_Missense_Mutation_p.A16V|KLHDC3_uc003oto.2_Intron	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	93	Kelch 2.				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			upper_aerodigestive_tract(1)	1			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCTTTGGGGCGGGCGGAATG	0.572000												
TTBK1	84630	broad.mit.edu	37	6	43252016	43252016	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:43252016G>A	uc003ouq.1	+	14	3817	c.3538G>A	c.(3538-3540)GCG>ACG	p.A1180T		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1180						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATCCCATGGCGCGGCCCCAGC	0.701000												
CLIC5	53405	broad.mit.edu	37	6	45922903	45922903	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:45922903C>T	uc003oxv.3	-	2	725	c.619G>A	c.(619-621)GTG>ATG	p.V207M	CLIC5_uc003oxu.3_Missense_Mutation_p.V48M|CLIC5_uc003oxx.2_Missense_Mutation_p.V48M	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5 isoform a	207	Helical; Note=After insertion into the membrane; (Potential).				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			ovary(1)|skin(1)	2						ACATTGAACACGACTCCTTTC	0.478000												
MEP1A	4224	broad.mit.edu	37	6	46806746	46806746	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:46806746C>T	uc010jzh.1	+	14	2156	c.2114C>T	c.(2113-2115)ACG>ATG	p.T705M	MEP1A_uc011dwg.1_Missense_Mutation_p.T427M|MEP1A_uc011dwh.1_Missense_Mutation_p.T733M|MEP1A_uc011dwi.1_Missense_Mutation_p.T605M	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	705	EGF-like.|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)			TTCTTCTACACGGGGGAGCGC	0.587000												
MUT	4594	broad.mit.edu	37	6	49426894	49426894	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:49426894A>G	uc003ozg.3	-	2	541	c.286T>C	c.(286-288)TAT>CAT	p.Y96H		NM_000255	NP_000246	P22033	MUTA_HUMAN	methylmalonyl Coenzyme A mutase precursor	96					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGTAGGATATGGTCCACGT	0.448000												
KCNQ5	56479	broad.mit.edu	37	6	73843172	73843172	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:73843172C>T	uc003pgk.2	+	10	1623	c.1276C>T	c.(1276-1278)CGC>TGC	p.R426C	KCNQ5_uc011dyh.1_Missense_Mutation_p.R445C|KCNQ5_uc011dyi.1_Missense_Mutation_p.R436C|KCNQ5_uc010kat.2_Missense_Mutation_p.R417C|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R176C	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like	426					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGAGCGAGTGCGCATGGCTAG	0.507000												
CASP8AP2	9994	broad.mit.edu	37	6	90573828	90573828	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:90573828G>A	uc003pnr.2	+	7	2596	c.2400G>A	c.(2398-2400)TCG>TCA	p.S800S	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.S800S|CASP8AP2_uc011dzz.1_Silent_p.S800S	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	800					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAGTAAGTCGTGTCATCTGG	0.403000												
MANEA	79694	broad.mit.edu	37	6	96034484	96034484	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:96034484A>G	uc003poo.1	+	2	309	c.169A>G	c.(169-171)AAA>GAA	p.K57E	MANEA_uc003pon.2_Missense_Mutation_p.K57E	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	57	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCATTTGGGGAAAAATTTTGA	0.358000												
MANEA	79694	broad.mit.edu	37	6	96034832	96034832	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:96034832A>G	uc003poo.1	+	2	657	c.517A>G	c.(517-519)ATG>GTG	p.M173V	MANEA_uc003pon.2_Missense_Mutation_p.M173V	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	173	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AGAAACTCACATGAGACAAAT	0.318000												
KIAA0776	23376	broad.mit.edu	37	6	96986656	96986656	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:96986656C>T	uc003por.2	+	10	1176	c.1128C>T	c.(1126-1128)TTC>TTT	p.F376F	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	376					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CAGAACTGTTCCGTGAGCTGA	0.373000												
SFRS18	25957	broad.mit.edu	37	6	99848925	99848925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:99848925G>A	uc003ppo.3	-	12	2137	c.1909C>T	c.(1909-1911)CGA>TGA	p.R637*	SFRS18_uc003ppl.2_Nonsense_Mutation_p.R183*|SFRS18_uc003ppp.3_Nonsense_Mutation_p.R637*|SFRS18_uc011eag.1_Nonsense_Mutation_p.R637*	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	637						nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		CGCCTATCTCGACTCCTACTG	0.403000												
SFRS18	25957	broad.mit.edu	37	6	99857094	99857094	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:99857094G>A	uc003ppo.3	-	6	856	c.628C>T	c.(628-630)CGT>TGT	p.R210C	SFRS18_uc003ppp.3_Missense_Mutation_p.R210C|SFRS18_uc011eag.1_Missense_Mutation_p.R210C|SFRS18_uc003ppr.2_Missense_Mutation_p.R210C	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	splicing factor, arginine/serine-rich 130	210	Pro-rich.					nuclear speck					0		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0631)		ATAGGTGAACGCTGACGATCC	0.463000												
PRDM13	59336	broad.mit.edu	37	6	100054917	100054917	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:100054917G>A	uc003pqg.1	+	1	268	c.7G>A	c.(7-9)GGA>AGA	p.G3R		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	3	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AACAATGCACGGAGCCGCCAG	0.692000												
FAM184A	79632	broad.mit.edu	37	6	119288105	119288105	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:119288105C>T	uc003pyj.2	-	15	3276	c.2928G>A	c.(2926-2928)ATG>ATA	p.M976I	FAM184A_uc003pyk.3_Missense_Mutation_p.M807I|FAM184A_uc003pyl.3_Missense_Mutation_p.M807I|FAM184A_uc003pyi.2_RNA	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	hypothetical protein LOC79632 isoform 1	976										ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						ATTTTTCTTCCATTTCTTCTA	0.299000												
ENPP1	5167	broad.mit.edu	37	6	132179844	132179844	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:132179844T>C	uc011ecf.1	+	7	772	c.752T>C	c.(751-753)GTA>GCA	p.V251A	ENPP1_uc003qcy.2_5'Flank	NM_006208	NP_006199	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	251	Phosphodiesterase.|Extracellular (Potential).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			upper_aerodigestive_tract(2)|ovary(2)	4	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGAGACCGGTATATCCAACA	0.343000												
TAAR1	134864	broad.mit.edu	37	6	132966154	132966154	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:132966154C>A	uc003qdm.1	-	1	989	c.989G>T	c.(988-990)AGG>ATG	p.R330M		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	330	Cytoplasmic (Potential).					plasma membrane					0	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TAATTTACACCTGGATGAATC	0.294000												
HECA	51696	broad.mit.edu	37	6	139488396	139488396	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:139488396G>A	uc003qin.2	+	2	1532	c.1247G>A	c.(1246-1248)GGA>GAA	p.G416E		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	416					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTGGTGGATGGAACTTTGTTC	0.517000												
GRM1	2911	broad.mit.edu	37	6	146351103	146351103	+	Silent	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:146351103C>A	uc010khw.1	+	2	920	c.450C>A	c.(448-450)GGC>GGA	p.G150G	GRM1_uc010khu.1_Silent_p.G150G|GRM1_uc010khv.1_Silent_p.G150G|GRM1_uc003qll.2_Silent_p.G150G|GRM1_uc011edz.1_Silent_p.G150G|GRM1_uc011eea.1_Silent_p.G150G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	150	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)	TCCCCCCAGGCAGGACTAAGA	0.562000												
LATS1	9113	broad.mit.edu	37	6	150023031	150023031	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:150023031A>G	uc003qmu.1	-	2	780	c.232T>C	c.(232-234)TTG>CTG	p.L78L	LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Silent_p.L78L|LATS1_uc003qmw.2_Silent_p.L78L|LATS1_uc010kig.1_5'UTR	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	78					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATTTCCTGCAAGGCTTTATGA	0.413000												
TIAM2	26230	broad.mit.edu	37	6	155451082	155451082	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:155451082C>T	uc003qqb.2	+	6	1998	c.725C>T	c.(724-726)TCC>TTC	p.S242F	TIAM2_uc003qqe.2_Missense_Mutation_p.S242F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	242					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAAGGCAGCTCCCTGAGTTCT	0.672000												
IQCE	23288	broad.mit.edu	37	7	2645582	2645582	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:2645582G>A	uc003smo.3	+	20	2000	c.1816G>A	c.(1816-1818)GTC>ATC	p.V606I	IQCE_uc003sml.1_Missense_Mutation_p.V606I|IQCE_uc011jvy.1_Missense_Mutation_p.V590I|IQCE_uc011jvz.1_Missense_Mutation_p.V541I|IQCE_uc003smk.3_Missense_Mutation_p.V590I|IQCE_uc003smn.3_Missense_Mutation_p.V541I	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	IQ motif containing E isoform 1	606	IQ 2.										0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GGAGGCCATCGTCATCATCCA	0.687000												
CARD11	84433	broad.mit.edu	37	7	2959065	2959065	+	Silent	SNP	C	C	T	rs141131560	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:2959065C>T	uc003smv.2	-	18	2855	c.2451G>A	c.(2449-2451)GCG>GCA	p.A817A		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	817					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGTCGACCCGCGCGCACAGCC	0.612000			Mis		DLBCL							
MMD2	221938	broad.mit.edu	37	7	4947221	4947221	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:4947221C>T	uc003sno.3	-	7	815	c.619G>A	c.(619-621)GAG>AAG	p.E207K	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.E183K|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	207	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)		CAGATGCCCTCGGTGTTGGGC	0.612000												
TNRC18	84629	broad.mit.edu	37	7	5347890	5347890	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:5347890C>T	uc003soi.3	-	30	9103	c.8754G>A	c.(8752-8754)TCG>TCA	p.S2918S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2918	BAH.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCACTTGTGCGACACCGTCT	0.622000												
TNRC18	84629	broad.mit.edu	37	7	5348943	5348943	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:5348943G>A	uc003soi.3	-	28	8794	c.8445C>T	c.(8443-8445)GGC>GGT	p.G2815G		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2815							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCATCTCCTTGCCGCGCACGA	0.662000												
PMS2	5395	broad.mit.edu	37	7	6026915	6026915	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:6026915G>A	uc003spl.2	-	11	1568	c.1481C>T	c.(1480-1482)TCG>TTG	p.S494L	PMS2_uc003spj.2_Missense_Mutation_p.S388L|PMS2_uc003spk.2_Missense_Mutation_p.S359L|PMS2_uc011jwl.1_Missense_Mutation_p.S359L|PMS2_uc010ktg.2_Missense_Mutation_p.S183L|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.S494L	NM_000535	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 isoform	494					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			lung(1)|central_nervous_system(1)	2		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GCCGTGCCCCGAGTCCTTCTC	0.622000			Mis|N|F			colorectal|endometrial|ovarian|medulloblastoma|glioma		Direct_reversal_of_damage|MMR	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
ABCB5	340273	broad.mit.edu	37	7	20682989	20682989	+	Missense_Mutation	SNP	G	G	A	rs117477399	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:20682989G>A	uc010kuh.2	+	6	734	c.497G>A	c.(496-498)CGC>CAC	p.R166H		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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						CTTAACACTCGCATGACAGAG	0.393000												
HERPUD2	64224	broad.mit.edu	37	7	35678044	35678044	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:35678044G>T	uc003tet.2	-	5	1338	c.533C>A	c.(532-534)CCT>CAT	p.P178H	HERPUD2_uc003tes.3_Missense_Mutation_p.P178H	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	178					response to unfolded protein	integral to membrane				ovary(3)	3						TGGGAATCCAGGTGGAGCAGC	0.398000												
AEBP1	165	broad.mit.edu	37	7	44144463	44144463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:44144463C>T	uc003tkb.2	+	1	504	c.199C>T	c.(199-201)CGA>TGA	p.R67*		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	67	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCCGCGGGTCCGAAAAGCCCA	0.716000												
POLD2	5425	broad.mit.edu	37	7	44157558	44157558	+	Missense_Mutation	SNP	C	C	T	rs149066641	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:44157558C>T	uc010kxz.2	-	4	976	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	POLD2_uc003tke.3_Missense_Mutation_p.R109Q|POLD2_uc010kya.2_Missense_Mutation_p.R109Q|POLD2_uc003tkf.3_Missense_Mutation_p.R109Q	NM_006230	NP_006221	P49005	DPOD2_HUMAN	DNA-directed DNA polymerase delta 2	109					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			ovary(2)	2						GCTGACCTCCCGCAGGATGGA	0.637000												
PKD1L1	168507	broad.mit.edu	37	7	47925507	47925507	+	Silent	SNP	G	G	A	rs144656414		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:47925507G>A	uc003tny.1	-	18	2982	c.2982C>T	c.(2980-2982)CCC>CCT	p.P994P		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	994	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						CAAGGGTCACGGGTGAAGGTT	0.582000												
ABCA13	154664	broad.mit.edu	37	7	48563978	48563978	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:48563978G>A	uc003toq.2	+	54	14211	c.14186G>A	c.(14185-14187)CGC>CAC	p.R4729H	ABCA13_uc010kys.1_Missense_Mutation_p.R1804H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.R459H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4729	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CATTATCGACGCTTTTTCCAG	0.353000												
IKZF1	10320	broad.mit.edu	37	7	50459497	50459497	+	Silent	SNP	C	C	T	rs150385329	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:50459497C>T	uc003tow.3	+	8	954	c.786C>T	c.(784-786)CTC>CTT	p.L262L	IKZF1_uc003tox.3_Silent_p.L220L|IKZF1_uc003toy.3_Silent_p.L220L|IKZF1_uc011kck.1_Silent_p.L175L|IKZF1_uc003toz.3_Silent_p.L232L|IKZF1_uc010kyx.2_Intron|IKZF1_uc003tpa.3_Silent_p.L14L	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	zinc finger protein, subfamily 1A, 1 (Ikaros)	262					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(74)		haematopoietic_and_lymphoid_tissue(147)|lung(1)	148	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGATCTCTCGTGCTGGACA	0.398000			D		ALL							
FIGNL1	63979	broad.mit.edu	37	7	50514212	50514212	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:50514212C>T	uc003tpc.2	-	4	1151	c.774G>A	c.(772-774)AAG>AAA	p.K258K	FIGNL1_uc003tpb.2_Silent_p.K147K|FIGNL1_uc003tpd.2_Silent_p.K258K|FIGNL1_uc003tpe.2_Silent_p.K258K|FIGNL1_uc010kyy.2_Silent_p.K258K	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	258					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			ovary(3)	3	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CATAAAAAGACTTCCTCTGTG	0.398000												
CLIP2	7461	broad.mit.edu	37	7	73771801	73771801	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:73771801T>C	uc003uam.2	+	6	1536	c.1209T>C	c.(1207-1209)CAT>CAC	p.H403H	CLIP2_uc003uan.2_Silent_p.H403H	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	403	Potential.					microtubule associated complex				skin(3)	3						AGGCACAGCATGAGCAGGTGA	0.622000												
RHBDD2	57414	broad.mit.edu	37	7	75511206	75511206	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:75511206G>A	uc003udw.1	+	2	322	c.238G>A	c.(238-240)GCT>ACT	p.A80T	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2 isoform a	80	Helical; (Potential).					integral to membrane	serine-type endopeptidase activity				0						GCTCTGCGGCGCTATCATCAT	0.562000												
PCLO	27445	broad.mit.edu	37	7	82578874	82578874	+	Missense_Mutation	SNP	C	C	T	rs139066156	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:82578874C>T	uc003uhx.2	-	6	11319	c.11030G>A	c.(11029-11031)CGT>CAT	p.R3677H	PCLO_uc003uhv.2_Missense_Mutation_p.R3677H|PCLO_uc010lec.2_Missense_Mutation_p.R642H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3608					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AGACATAGAACGCTGCATCAT	0.478000												
ABCB1	5243	broad.mit.edu	37	7	87214926	87214926	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:87214926G>T	uc003uiz.1	-	5	606	c.188C>A	c.(187-189)GCT>GAT	p.A63D	ABCB1_uc011khc.1_Missense_Mutation_p.A63D	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	63	ABC transmembrane type-1 1.|Helical; (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGGAAGTCCAGCCCCATGGAT	0.398000												
AKAP9	10142	broad.mit.edu	37	7	91645529	91645529	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:91645529C>T	uc003ulg.2	+	11	3924	c.3699C>T	c.(3697-3699)TAC>TAT	p.Y1233Y	AKAP9_uc003ule.2_Silent_p.Y1245Y|AKAP9_uc003ulf.2_Silent_p.Y1233Y|AKAP9_uc003uli.2_Silent_p.Y858Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1245					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)			CTGGTGATTACATTTCTGAAA	0.294000			T	BRAF	papillary thyroid							
PEX1	5189	broad.mit.edu	37	7	92147285	92147285	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:92147285G>A	uc003uly.2	-	5	640	c.544C>T	c.(544-546)CGC>TGC	p.R182C	PEX1_uc011khr.1_Translation_Start_Site|PEX1_uc010ley.2_Missense_Mutation_p.R182C|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	182					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTGGCTCGGCGTGTCTTTGGC	0.388000												
SGCE	8910	broad.mit.edu	37	7	94285328	94285328	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:94285328G>A	uc003unl.2	-	1	194	c.83C>T	c.(82-84)GCG>GTG	p.A28V	SGCE_uc003unm.2_Missense_Mutation_p.A28V|SGCE_uc003unn.2_Missense_Mutation_p.A28V|SGCE_uc011kic.1_Missense_Mutation_p.A28V|SGCE_uc011kid.1_Missense_Mutation_p.A28V|PEG10_uc011kie.1_5'Flank	NM_003919	NP_003910	O43556	SGCE_HUMAN	sarcoglycan, epsilon isoform 2	28	Extracellular (Potential).				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCAGTGGTCGCGGGGCTCAT	0.697000											OREG0018170	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PPP1R9A	55607	broad.mit.edu	37	7	94540617	94540617	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:94540617C>T	uc003unp.2	+	2	1474	c.1192C>T	c.(1192-1194)CAC>TAC	p.H398Y	PPP1R9A_uc010lfj.2_Missense_Mutation_p.H398Y|PPP1R9A_uc011kif.1_Missense_Mutation_p.H398Y|PPP1R9A_uc003unq.2_Missense_Mutation_p.H398Y|PPP1R9A_uc011kig.1_Missense_Mutation_p.H398Y	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	398						cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTGTACATGCACAGTGACTA	0.443000										HNSCC(28;0.073)		
TRRAP	8295	broad.mit.edu	37	7	98556979	98556979	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:98556979A>G	uc003upp.2	+	44	6543	c.6334A>G	c.(6334-6336)ACC>GCC	p.T2112A	TRRAP_uc011kis.1_Missense_Mutation_p.T2094A|TRRAP_uc003upr.2_Missense_Mutation_p.T1811A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2112	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAATGACAACACCAACACAGC	0.552000												
TRRAP	8295	broad.mit.edu	37	7	98609104	98609104	+	Silent	SNP	G	G	A	rs140449855		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:98609104G>A	uc003upp.2	+	71	11450	c.11241G>A	c.(11239-11241)CCG>CCA	p.P3747P	TRRAP_uc011kis.1_Silent_p.P3718P|TRRAP_uc003upr.2_Silent_p.P3453P|TRRAP_uc003ups.2_5'Flank	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	3747	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTCCGGCCCGTTGACAGCGT	0.592000												
CPSF4	10898	broad.mit.edu	37	7	99051685	99051685	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:99051685G>A	uc003uqj.2	+	7	810	c.667G>A	c.(667-669)GGG>AGG	p.G223R	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Missense_Mutation_p.G198R|CPSF4_uc003uqk.2_Missense_Mutation_p.G197R|CPSF4_uc011kix.1_Missense_Mutation_p.G145R	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	223					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGGTCATCGGGGTCATGCA	0.582000												
ZAN	7455	broad.mit.edu	37	7	100357453	100357453	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:100357453G>A	uc003uwj.2	+	18	3846	c.3681G>A	c.(3679-3681)AAG>AAA	p.K1227K	ZAN_uc003uwk.2_Silent_p.K1227K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	1227	VWFD 1.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCTGCTTAAGGGCAGACGCA	0.602000												
CUX1	1523	broad.mit.edu	37	7	101845115	101845115	+	Silent	SNP	G	G	A	rs115507543	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:101845115G>A	uc003uyx.3	+	18	2576	c.2538G>A	c.(2536-2538)ACG>ACA	p.T846T	CUX1_uc003uys.3_Silent_p.T857T|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	846					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						CCGAAGAAACGGGCGGCGGGA	0.687000												
RELN	5649	broad.mit.edu	37	7	103368593	103368593	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:103368593C>T	uc003vca.2	-	7	878	c.718G>A	c.(718-720)GTC>ATC	p.V240I	RELN_uc010liz.2_Missense_Mutation_p.V240I	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	240					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)		CAGAAGGTGACGGCATTGCCA	0.433000												
CDHR3	222256	broad.mit.edu	37	7	105635244	105635244	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:105635244C>T	uc003vdl.3	+	5	669	c.561C>T	c.(559-561)GGC>GGT	p.G187G	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.3_Silent_p.G174G|CDHR3_uc011klt.1_Silent_p.G99G	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	187	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CTGCTAATGGCACCCTCTTCT	0.438000												
LAMB1	3912	broad.mit.edu	37	7	107615542	107615542	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:107615542A>G	uc003vew.2	-	12	1706	c.1371T>C	c.(1369-1371)TCT>TCC	p.S457S	LAMB1_uc003vev.2_Silent_p.S481S|LAMB1_uc003vex.2_Silent_p.S457S|LAMB1_uc010ljn.1_Silent_p.S543S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	457	Laminin EGF-like 3.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAAGCACAAGCTGTATTAA	0.423000												
DOCK4	9732	broad.mit.edu	37	7	111368616	111368616	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:111368616T>C	uc003vfx.2	-	52	5884	c.5615A>G	c.(5614-5616)CAG>CGG	p.Q1872R	DOCK4_uc011kml.1_Missense_Mutation_p.Q753R|DOCK4_uc011kmm.1_Missense_Mutation_p.Q741R|DOCK4_uc003vfw.2_Missense_Mutation_p.Q1284R|DOCK4_uc003vfy.2_Missense_Mutation_p.Q1917R|DOCK4_uc003vfv.2_Missense_Mutation_p.Q185R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1872					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				GGGGGCCGACTGTTCATTCAC	0.632000												
PTPRZ1	5803	broad.mit.edu	37	7	121651137	121651137	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:121651137T>C	uc003vjy.2	+	12	2432	c.2037T>C	c.(2035-2037)ACT>ACC	p.T679T	PTPRZ1_uc003vjz.2_Silent_p.T679T|PTPRZ1_uc011knt.1_Silent_p.T129T	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	679	Extracellular (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						CTAATTACACTGAGATACGTG	0.468000												
FAM40B	57464	broad.mit.edu	37	7	129096402	129096402	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:129096402G>A	uc011koy.1	+	9	997	c.957G>A	c.(955-957)CCG>CCA	p.P319P	FAM40B_uc003vow.2_Silent_p.P319P|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	319											0						CTGCCTCCCCGCCCTCTTACA	0.597000												
C7orf49	78996	broad.mit.edu	37	7	134851386	134851386	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:134851386C>T	uc003vsl.2	-	4	718	c.451G>A	c.(451-453)GTC>ATC	p.V151I	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Missense_Mutation_p.V122I|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.V150I|C7orf49_uc003vso.2_Missense_Mutation_p.V96I	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	151						cytoplasm				large_intestine(1)|ovary(1)	2						ATCTCCCGGACGTATTTCAGC	0.607000												
NUP205	23165	broad.mit.edu	37	7	135322803	135322803	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:135322803A>G	uc003vsw.2	+	37	5292	c.5261A>G	c.(5260-5262)CAG>CGG	p.Q1754R	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1754					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CTGGCTATGCAGCAGGTAAGA	0.328000												
BRAF	673	broad.mit.edu	37	7	140476719	140476719	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:140476719C>A	uc003vwc.3	-	13	1748	c.1687G>T	c.(1687-1689)GGC>TGC	p.G563C		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	563	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TACTCCATGCCCTGTGCAGTC	0.388000		61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome			
TRPV6	55503	broad.mit.edu	37	7	142571332	142571332	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:142571332A>C	uc003wbx.1	-	13	1873	c.1657T>G	c.(1657-1659)TTC>GTC	p.F553V	TRPV6_uc003wbw.1_Missense_Mutation_p.F339V|TRPV6_uc010lou.1_Missense_Mutation_p.F424V	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	553					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					CTGTACATGAAGGGCAGGTCC	0.562000												
SSPO	23145	broad.mit.edu	37	7	149499038	149499038	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:149499038G>T	uc010lpk.2	+	51	7490	c.7490G>T	c.(7489-7491)GGC>GTC	p.G2497V		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2497	LDL-receptor class A 10.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACGAGGATGGCTGTGGTATG	0.692000												
ZNF862	643641	broad.mit.edu	37	7	149557637	149557637	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:149557637G>A	uc010lpn.2	+	7	1580	c.1388G>A	c.(1387-1389)CGT>CAT	p.R463H	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	463	TTF-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						TACAGGCCCCGTTCCATTCAG	0.527000												
ACCN3	9311	broad.mit.edu	37	7	150749150	150749150	+	Splice_Site	SNP	G	G	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:150749150G>C	uc003win.2	+	8	1754	c.1386_splice	c.e8+1	p.E462_splice	ACCN3_uc003wio.2_Splice_Site_p.E462_splice|ACCN3_uc003wip.2_Splice_Site_p.E462_splice|ACCN3_uc003wiq.2_Splice_Site	NM_004769	NP_004760	Q9UHC3	ACCN3_HUMAN	amiloride-sensitive cation channel 3 isoform a						sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCTGTGAGGTGGGCCAGGG	0.652000												
RBM33	155435	broad.mit.edu	37	7	155493520	155493520	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:155493520A>T	uc010lqk.1	+	6	989	c.621A>T	c.(619-621)GAA>GAT	p.E207D	RBM33_uc003wme.2_Missense_Mutation_p.E207D|RBM33_uc011kvv.1_Missense_Mutation_p.E16D	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	207	Glu-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		aatcagatgaagaagaagaag	0.299000												
FBXO25	26260	broad.mit.edu	37	8	413102	413102	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:413102C>T	uc003wox.2	+	9	1205	c.939C>T	c.(937-939)TAC>TAT	p.Y313Y	FBXO25_uc003woy.2_Silent_p.Y313Y|FBXO25_uc003woz.2_Silent_p.Y246Y|FBXO25_uc003wpa.2_Silent_p.Y96Y	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	F-box only protein 25 isoform 1	313						nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			lung(1)	1		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AGGAGCAGTACGGAGACACAC	0.383000												
CSMD1	64478	broad.mit.edu	37	8	3141799	3141799	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:3141799G>T	uc011kwk.1	-	26	4413	c.4023C>A	c.(4021-4023)GAC>GAA	p.D1341E	CSMD1_uc011kwj.1_Missense_Mutation_p.D733E|CSMD1_uc003wqe.2_Missense_Mutation_p.D497E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1341	Extracellular (Potential).|CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATGTCACTGTCCACCGGCC	0.562000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SGK223	157285	broad.mit.edu	37	8	8233764	8233764	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:8233764G>A	uc003wsh.3	-	2	2155	c.2155C>T	c.(2155-2157)CGG>TGG	p.R719W		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	pragmin	719							ATP binding|non-membrane spanning protein tyrosine kinase activity				0						GGTACTCACCGCGACTTTGGA	0.552000												
RP1L1	94137	broad.mit.edu	37	8	10470587	10470587	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:10470587G>A	uc003wtc.2	-	4	1250	c.1021C>T	c.(1021-1023)CGG>TGG	p.R341W		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	341					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCCATCCTCCGGGACCATAGG	0.637000												
SOX7	83595	broad.mit.edu	37	8	10683722	10683722	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:10683722T>C	uc011kwz.1	-	5	367	c.334A>G	c.(334-336)AGC>GGC	p.S112G	PINX1_uc003wth.2_Missense_Mutation_p.S112G|PINX1_uc003wti.2_Missense_Mutation_p.S112G|MIR1322_hsa-mir-1322|MI0006653_5'Flank	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)		TCCTCAAGGCTAAAAGATTTC	0.303000												
DLC1	10395	broad.mit.edu	37	8	12957761	12957761	+	Silent	SNP	G	G	A	rs148579135		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:12957761G>A	uc003wwm.2	-	9	2529	c.2085C>T	c.(2083-2085)AGC>AGT	p.S695S	DLC1_uc003wwk.1_Silent_p.S258S|DLC1_uc003wwl.1_Silent_p.S292S|DLC1_uc011kxx.1_Silent_p.S184S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	695					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGATGGGCCCGCTGATGATCA	0.577000												
SLC7A2	6542	broad.mit.edu	37	8	17417858	17417858	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:17417858C>T	uc011kyc.1	+	9	1489	c.1320C>T	c.(1318-1320)TAC>TAT	p.Y440Y	SLC7A2_uc011kyd.1_Silent_p.Y479Y|SLC7A2_uc011kye.1_Silent_p.Y480Y|SLC7A2_uc011kyf.1_Silent_p.Y440Y	NM_001008539	NP_001008539	P52569	CTR2_HUMAN	solute carrier family 7, member 2 isoform 2	440	Cytoplasmic (Potential).				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			ovary(2)|skin(1)	3				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTTATCTTACGACCAGCCCA	0.473000												
NAT2	10	broad.mit.edu	37	8	18257855	18257855	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:18257855T>C	uc003wyw.1	+	2	449	c.342T>C	c.(340-342)ATT>ATC	p.I114I		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	114					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGGTGACCATTGACGGCAGGA	0.483000									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of			
NPM2	10361	broad.mit.edu	37	8	21883281	21883281	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:21883281A>G	uc003xab.2	+	4	926	c.268A>G	c.(268-270)ATG>GTG	p.M90V	NPM2_uc003xac.2_Missense_Mutation_p.M90V|NPM2_uc003xad.2_Missense_Mutation_p.M90V|NPM2_uc003xae.2_Missense_Mutation_p.M90V|NPM2_uc003xaf.2_Missense_Mutation_p.M90V	NM_182795	NP_877724	Q86SE8	NPM2_HUMAN	nucleoplasmin 2	90					chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AGTCCTCCCCATGGTGCGCAT	0.592000												
C8orf58	541565	broad.mit.edu	37	8	22459825	22459825	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:22459825G>A	uc003xce.2	+	5	991	c.879G>A	c.(877-879)AAG>AAA	p.K293K	C8orf58_uc011kzl.1_Silent_p.K293K|C8orf58_uc003xcf.2_Silent_p.K293K|KIAA1967_uc003xch.2_5'Flank|KIAA1967_uc003xci.2_5'Flank	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	hypothetical protein LOC541565	293										skin(1)	1		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGGGACACAAGGTAGGGGACA	0.647000												
TNFRSF10C	8794	broad.mit.edu	37	8	22974326	22974326	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:22974326G>T	uc003xcy.2	+	5	763	c.562G>T	c.(562-564)GGG>TGG	p.G188W	TNFRSF10C_uc011kzr.1_RNA	NM_003841	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily,	188	TAPE 2.				apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity				0		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CACCAGCCCGGGGACTCCTGC	0.622000												
STC1	6781	broad.mit.edu	37	8	23709860	23709860	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:23709860G>A	uc003xdw.1	-	2	440	c.156C>T	c.(154-156)GTC>GTT	p.V52V		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	52					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCCCGCAGCCGACCTGTAGAG	0.488000												
EXTL3	2137	broad.mit.edu	37	8	28574480	28574480	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:28574480A>G	uc003xgz.1	+	3	1497	c.904A>G	c.(904-906)ACC>GCC	p.T302A		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	302	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GGCCCAGTCCACCTTCTACAC	0.512000												
NRG1	3084	broad.mit.edu	37	8	32621538	32621538	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:32621538C>T	uc003xiv.2	+	12	2058	c.1541C>T	c.(1540-1542)GCT>GTT	p.A514V	NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.A519V|NRG1_uc003xiw.2_Missense_Mutation_p.A511V|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.A256V|NRG1_uc010lvs.2_Missense_Mutation_p.A256V|NRG1_uc010lvp.2_Missense_Mutation_p.A468V|NRG1_uc010lvq.2_Missense_Mutation_p.A451V|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.A357V|NRG1_uc003xja.2_Missense_Mutation_p.A325V	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	514	Cytoplasmic (Potential).				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGCCTCCCTGCTAGCCCCTTG	0.572000												
MAK16	84549	broad.mit.edu	37	8	33346315	33346315	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:33346315G>A	uc003xjj.2	+	4	279	c.239G>A	c.(238-240)CGG>CAG	p.R80Q	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	80						nucleolus				ovary(1)	1						CTCTGGGAACGGGTAAGCCTT	0.428000												
BAG4	9530	broad.mit.edu	37	8	38034594	38034594	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:38034594C>T	uc003xky.1	+	1	489	c.207C>T	c.(205-207)GGC>GGT	p.G69G	LSM1_uc003xkw.2_5'Flank|LSM1_uc003xkx.2_5'Flank|BAG4_uc003xkz.1_Silent_p.G69G	NM_004874	NP_004865	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	69					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)				GCGGAGGAGGCGATGGCTACT	0.677000												
ADAM9	8754	broad.mit.edu	37	8	38873652	38873652	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:38873652C>T	uc003xmr.2	+	5	427	c.349C>T	c.(349-351)CGG>TGG	p.R117W	ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9 isoform 1	117	Extracellular (Potential).			Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTGTCATTATCGGGGCTATGT	0.338000												
MYST3	7994	broad.mit.edu	37	8	41794882	41794882	+	Silent	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:41794882T>G	uc010lxb.2	-	17	3788	c.3244A>C	c.(3244-3246)AGA>CGA	p.R1082R	MYST3_uc010lxc.2_Silent_p.R1082R|MYST3_uc003xon.3_Silent_p.R1082R	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1082					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			AAGTATTCTCTAGGGAAAAGT	0.428000												
AP3M2	10947	broad.mit.edu	37	8	42012282	42012282	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:42012282G>A	uc003xop.2	+	3	368	c.77G>A	c.(76-78)CGT>CAT	p.R26H	AP3M2_uc003xoo.2_Missense_Mutation_p.R26H|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_5'UTR|AP3M2_uc003xor.1_Missense_Mutation_p.R26H	NM_001134296	NP_001127768	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	26					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus					0	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GTGGTCAGCCGTTCTGTTTGT	0.453000												
SOX17	64321	broad.mit.edu	37	8	55371735	55371735	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:55371735G>A	uc003xsb.3	+	2	629	c.425G>A	c.(424-426)CGC>CAC	p.R142H		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	142					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)			CCGCGGCGGCGCAAGCAGGTG	0.741000												
NSMAF	8439	broad.mit.edu	37	8	59510450	59510450	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:59510450G>T	uc003xtt.2	-	20	1811	c.1597C>A	c.(1597-1599)CTG>ATG	p.L533M	NSMAF_uc011lee.1_Missense_Mutation_p.L564M	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	533	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)				TCATAGGTCAGGGGATGAAAT	0.299000												
TOX	9760	broad.mit.edu	37	8	59764296	59764296	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:59764296T>C	uc003xtw.1	-	4	701	c.480A>G	c.(478-480)CCA>CCG	p.P160P		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	160						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GCTGGCCCCTTGGTCTCATGG	0.448000												
SULF1	23213	broad.mit.edu	37	8	70488321	70488321	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:70488321G>A	uc010lza.1	+	6	1006	c.289G>A	c.(289-291)GGG>AGG	p.G97R	SULF1_uc003xyd.2_Missense_Mutation_p.G97R|SULF1_uc003xye.2_Missense_Mutation_p.G97R|SULF1_uc003xyf.2_Missense_Mutation_p.G97R|SULF1_uc003xyg.2_Missense_Mutation_p.G97R	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	97					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CATGCTCACCGGGAAGTATGT	0.517000												
ZFHX4	79776	broad.mit.edu	37	8	77766597	77766597	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:77766597G>A	uc003yav.2	+	10	7692	c.7305G>A	c.(7303-7305)ACG>ACA	p.T2435T	ZFHX4_uc003yau.1_Silent_p.T2480T|ZFHX4_uc003yaw.1_Silent_p.T2435T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2435						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)			TTTCCATGACGTCTCTCCAGA	0.458000										HNSCC(33;0.089)		
ZNF704	619279	broad.mit.edu	37	8	81553607	81553607	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:81553607G>A	uc003yby.1	-	9	1465	c.1233C>T	c.(1231-1233)CTC>CTT	p.L411L		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	411						intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCTCTCAGTCGAGGAACCTCT	0.602000												
CA3	761	broad.mit.edu	37	8	86354335	86354335	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:86354335G>A	uc003ydj.2	+	3	349	c.266G>A	c.(265-267)CGA>CAA	p.R89Q	CA3_uc011lfv.1_RNA	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	89					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						GGACCCTACCGACTTCGCCAG	0.507000												
PSKH2	85481	broad.mit.edu	37	8	87060713	87060713	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:87060713G>A	uc011lfy.1	-	3	1136	c.1136C>T	c.(1135-1137)TCG>TTG	p.S379L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	379							ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			AGACAGTGGCGATTCTACTAT	0.433000												
PSKH2	85481	broad.mit.edu	37	8	87076599	87076599	+	Silent	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:87076599G>T	uc011lfy.1	-	2	447	c.447C>A	c.(445-447)CTC>CTA	p.L149L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	149	Protein kinase.						ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)			CCTGAGCAATGAGTCGATCAA	0.498000												
RBM12B	389677	broad.mit.edu	37	8	94745759	94745759	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:94745759A>G	uc003yfz.2	-	3	3073	c.2880T>C	c.(2878-2880)AAT>AAC	p.N960N		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	960	RRM 4.						nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGCCTTGCTCATTATACTGTA	0.358000												
YWHAZ	7534	broad.mit.edu	37	8	101960825	101960825	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:101960825A>G	uc011lhe.1	-	2	470	c.293T>C	c.(292-294)CTG>CCG	p.L98P	YWHAZ_uc003yjv.2_Missense_Mutation_p.L98P|YWHAZ_uc011lhf.1_Missense_Mutation_p.L98P|YWHAZ_uc003yjw.2_Missense_Mutation_p.L98P|YWHAZ_uc010mbq.2_Missense_Mutation_p.L21P|YWHAZ_uc011lhg.1_Intron|YWHAZ_uc010mbr.2_Missense_Mutation_p.L98P|YWHAZ_uc003yjx.2_Missense_Mutation_p.L98P|YWHAZ_uc003yjy.2_Missense_Mutation_p.L98P	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	98					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GATTCTCACCAGTACATCATT	0.378000												
FZD6	8323	broad.mit.edu	37	8	104342230	104342230	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:104342230G>T	uc003ylh.2	+	6	2173	c.1889G>T	c.(1888-1890)GGG>GTG	p.G630V	FZD6_uc003ylj.2_Missense_Mutation_p.G630V|FZD6_uc011lhn.1_Missense_Mutation_p.G596V|FZD6_uc011lho.1_Missense_Mutation_p.G325V|FZD6_uc011lhp.1_Missense_Mutation_p.G575V	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	630	Cytoplasmic (Potential).				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGACTCTCTGGGGAACAGGTC	0.517000												
DPYS	1807	broad.mit.edu	37	8	105405032	105405032	+	Nonsense_Mutation	SNP	G	G	A	rs61758444		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:105405032G>A	uc003yly.3	-	8	1552	c.1423C>T	c.(1423-1425)CGA>TGA	p.R475*	DPYS_uc010mcf.1_Nonsense_Mutation_p.R45*	NM_001385	NP_001376	Q14117	DPYS_HUMAN	dihydropyrimidinase	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCTTTATTCGTTTGTAAATA	0.473000												
PKHD1L1	93035	broad.mit.edu	37	8	110477051	110477051	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:110477051A>G	uc003yne.2	+	49	8094	c.7990A>G	c.(7990-7992)AAT>GAT	p.N2664D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2664	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)			TGAATGGGTCAATGGAGGTGC	0.453000										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	113277738	113277738	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:113277738T>A	uc003ynu.2	-	60	9749	c.9590A>T	c.(9589-9591)TAC>TTC	p.Y3197F	CSMD3_uc003yns.2_Missense_Mutation_p.Y2399F|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3157F|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3028F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3197	Extracellular (Potential).|Sushi 24.					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						CTGGCACATGTAAGAAACATT	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113301691	113301691	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:113301691A>G	uc003ynu.2	-	57	9210	c.9051T>C	c.(9049-9051)GTT>GTC	p.V3017V	CSMD3_uc003yns.2_Silent_p.V2219V|CSMD3_uc003ynt.2_Silent_p.V2977V|CSMD3_uc011lhx.1_Silent_p.V2848V	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						AGGAATAGTGAACAGTAGACC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
CSMD3	114788	broad.mit.edu	37	8	113694730	113694730	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:113694730A>T	uc003ynu.2	-	16	2777	c.2618T>A	c.(2617-2619)ATT>AAT	p.I873N	CSMD3_uc003yns.2_Missense_Mutation_p.I145N|CSMD3_uc003ynt.2_Missense_Mutation_p.I833N|CSMD3_uc011lhx.1_Missense_Mutation_p.I769N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	873	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AATACATGTAATTGTTTCTGT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TG	7038	broad.mit.edu	37	8	134034244	134034244	+	Silent	SNP	C	C	T	rs149348416		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:134034244C>T	uc003ytw.2	+	40	6926	c.6885C>T	c.(6883-6885)AAC>AAT	p.N2295N	TG_uc010mdw.2_Silent_p.N1054N|TG_uc011ljb.1_Silent_p.N664N|TG_uc011ljc.1_Silent_p.N428N	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	2295					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)		AGGCCCCTAACGCGTCTGTGC	0.557000												
COL22A1	169044	broad.mit.edu	37	8	139790595	139790595	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:139790595C>T	uc003yvd.2	-	15	2205	c.1758_splice	c.e15+1	p.P586_splice		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTTCACTTACAGGAGCTCCG	0.527000										HNSCC(7;0.00092)		
SLC45A4	57210	broad.mit.edu	37	8	142222373	142222373	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:142222373C>T	uc003ywd.1	-	7	2379	c.2071G>A	c.(2071-2073)GGG>AGG	p.G691R	SLC45A4_uc003ywc.1_Missense_Mutation_p.G691R|SLC45A4_uc010meq.1_Missense_Mutation_p.G689R	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	742					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGCTGTTCCCACCGGCCCTG	0.637000												
SLC45A4	57210	broad.mit.edu	37	8	142228485	142228485	+	Silent	SNP	C	C	T	rs150882337		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:142228485C>T	uc003ywd.1	-	4	1409	c.1101G>A	c.(1099-1101)GCG>GCA	p.A367A	SLC45A4_uc003ywc.1_Silent_p.A367A|SLC45A4_uc010meq.1_Silent_p.A365A	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	418					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCCTGCGGAACGCGTGCCGCC	0.682000												
LY6E	4061	broad.mit.edu	37	8	144102851	144102851	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144102851G>A	uc003yxn.2	+	3	326	c.172_splice	c.e3+1	p.G58_splice	LY6E_uc003yxm.2_Splice_Site_p.G58_splice|LY6E_uc003yxo.2_Splice_Site	NM_001127213	NP_001120685	Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E precursor						cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane					0	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCCGGCATTGGTGAGTGCCAG	0.612000												
RHPN1	114822	broad.mit.edu	37	8	144464012	144464012	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144464012A>G	uc003yyb.2	+	14	1804	c.1671A>G	c.(1669-1671)TCA>TCG	p.S557S		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	582	PDZ.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACATTGTGTCAGTGAATGGGC	0.662000												
PLEC	5339	broad.mit.edu	37	8	144991489	144991489	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144991489G>A	uc003zaf.1	-	32	13081	c.12911C>T	c.(12910-12912)ACG>ATG	p.T4304M	PLEC_uc003zab.1_Missense_Mutation_p.T4167M|PLEC_uc003zac.1_Missense_Mutation_p.T4171M|PLEC_uc003zad.2_Missense_Mutation_p.T4167M|PLEC_uc003zae.1_Missense_Mutation_p.T4135M|PLEC_uc003zag.1_Missense_Mutation_p.T4145M|PLEC_uc003zah.2_Missense_Mutation_p.T4153M|PLEC_uc003zaj.2_Missense_Mutation_p.T4194M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4304	Globular 2.|Plectin 27.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTCCAGGTACGTCTGGTGGTC	0.637000												
PLEC	5339	broad.mit.edu	37	8	144995573	144995573	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144995573G>A	uc003zaf.1	-	32	8997	c.8827C>T	c.(8827-8829)CTG>TTG	p.L2943L	PLEC_uc003zab.1_Silent_p.L2806L|PLEC_uc003zac.1_Silent_p.L2810L|PLEC_uc003zad.2_Silent_p.L2806L|PLEC_uc003zae.1_Silent_p.L2774L|PLEC_uc003zag.1_Silent_p.L2784L|PLEC_uc003zah.2_Silent_p.L2792L|PLEC_uc003zaj.2_Silent_p.L2833L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2943	Plectin 4.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGGGCCTCCAGCAGGCGGATG	0.667000												
PLEC	5339	broad.mit.edu	37	8	144996166	144996166	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144996166G>A	uc003zaf.1	-	32	8404	c.8234C>T	c.(8233-8235)GCG>GTG	p.A2745V	PLEC_uc003zab.1_Missense_Mutation_p.A2608V|PLEC_uc003zac.1_Missense_Mutation_p.A2612V|PLEC_uc003zad.2_Missense_Mutation_p.A2608V|PLEC_uc003zae.1_Missense_Mutation_p.A2576V|PLEC_uc003zag.1_Missense_Mutation_p.A2586V|PLEC_uc003zah.2_Missense_Mutation_p.A2594V|PLEC_uc003zaj.2_Missense_Mutation_p.A2635V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2745	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTGCGCCAGCGCGGCCCGGTG	0.587000												
PLEC	5339	broad.mit.edu	37	8	144997128	144997128	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144997128C>T	uc003zaf.1	-	31	7550	c.7380G>A	c.(7378-7380)ACG>ACA	p.T2460T	PLEC_uc003zab.1_Silent_p.T2323T|PLEC_uc003zac.1_Silent_p.T2327T|PLEC_uc003zad.2_Silent_p.T2323T|PLEC_uc003zae.1_Silent_p.T2291T|PLEC_uc003zag.1_Silent_p.T2301T|PLEC_uc003zah.2_Silent_p.T2309T|PLEC_uc003zaj.2_Silent_p.T2350T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2460	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTTGAGTCGCGTGGCCTCCT	0.667000												
SPATC1	375686	broad.mit.edu	37	8	145094872	145094872	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145094872A>C	uc011lkw.1	+	2	376	c.274A>C	c.(274-276)ATG>CTG	p.M92L	SPATC1_uc011lkx.1_Missense_Mutation_p.M92L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	92										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGTGGGGATCATGGCCTTGGC	0.637000												
GPR172A	79581	broad.mit.edu	37	8	145583901	145583901	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145583901T>C	uc003zcc.1	+	3	906	c.749T>C	c.(748-750)CTG>CCG	p.L250P	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.L250P|GPR172A_uc003zce.1_Missense_Mutation_p.L250P|GPR172A_uc010mfy.1_Missense_Mutation_p.L250P|GPR172A_uc003zcf.1_Missense_Mutation_p.L250P|GPR172A_uc011llc.1_Missense_Mutation_p.L162P	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	250						integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCCTCACCACTGCAAGAGCCA	0.627000												
NFKBIL2	4796	broad.mit.edu	37	8	145657756	145657756	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145657756C>A	uc011llg.1	-	23	3662	c.3647G>T	c.(3646-3648)GGC>GTC	p.G1216V	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1216					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CAGGAGGGTGCCGGCGGGCAG	0.662000												
RECQL4	9401	broad.mit.edu	37	8	145742065	145742065	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145742065C>T	uc003zdj.2	-	5	470	c.438G>A	c.(436-438)GGG>GGA	p.G146G	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	146					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGGGACAGGCCCTGTACCTG	0.637000			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
LRRC24	441381	broad.mit.edu	37	8	145748716	145748716	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145748716A>G	uc003zdm.2	-	5	817	c.685T>C	c.(685-687)TCC>CCC	p.S229P	LRRC24_uc003zdn.2_Missense_Mutation_p.S226P|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24 precursor	229	LRRCT.					integral to membrane					0	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGTCCCTGGAGGTGAGCAGC	0.647000												
ZNF7	7553	broad.mit.edu	37	8	146066746	146066746	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:146066746C>T	uc003zeg.3	+	5	391	c.254C>T	c.(253-255)ACG>ATG	p.T85M	ZNF7_uc010mge.2_Missense_Mutation_p.T96M|ZNF7_uc011lln.1_Translation_Start_Site|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Translation_Start_Site|COMMD5_uc003zel.1_RNA	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	85					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TCAGATTCTACGATTAGGACT	0.488000												
C8orf33	65265	broad.mit.edu	37	8	146278738	146278738	+	Silent	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:146278738C>A	uc003zfc.3	+	4	513	c.459C>A	c.(457-459)CCC>CCA	p.P153P	C8orf33_uc003zfd.2_RNA	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	153											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)		CGCCCTTGCCCCGGAAGAGGC	0.542000												
FOXD4	2298	broad.mit.edu	37	9	117504	117504	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:117504T>C	uc003zfz.2	-	1	914	c.616A>G	c.(616-618)ACC>GCC	p.T206A		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	206	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTCCCGGGGTCGGTTGGTGG	0.692000												
PPAPDC2	403313	broad.mit.edu	37	9	4662738	4662738	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:4662738G>A	uc003zin.2	+	1	441	c.363G>A	c.(361-363)GCG>GCA	p.A121A	C9orf68_uc003zik.2_Intron|C9orf68_uc003zil.2_Intron|C9orf68_uc010mhj.2_Intron|C9orf68_uc011lly.1_Intron|C9orf68_uc011llz.1_Intron|C9orf68_uc003zim.2_Intron	NM_203453	NP_982278	Q8IY26	PPAC2_HUMAN	phosphatidic acid phosphatase type 2 domain	121						integral to membrane	hydrolase activity				0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.026)		GGGTGTGCGCGGGAGAGAGCT	0.657000											OREG0019084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIAA2026	158358	broad.mit.edu	37	9	5920290	5920290	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:5920290T>G	uc003zjq.3	-	8	5922	c.5706A>C	c.(5704-5706)CAA>CAC	p.Q1902H	KIAA2026_uc010mht.2_Missense_Mutation_p.Q1077H	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	1902										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTCCAAGACCTTGTGGTGGAA	0.423000												
PLIN2	123	broad.mit.edu	37	9	19116373	19116373	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:19116373G>A	uc003zno.2	-	8	1366	c.1187C>T	c.(1186-1188)ACG>ATG	p.T396M	PLIN2_uc011lna.1_Missense_Mutation_p.T368M	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	396					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle		p.T396K(1)		ovary(2)	2						GTTGAGGGGCGTGTTGTTAAC	0.488000												
TEK	7010	broad.mit.edu	37	9	27228229	27228229	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:27228229C>T	uc003zqi.3	+	22	3668	c.3226C>T	c.(3226-3228)CGG>TGG	p.R1076W	TEK_uc011lno.1_Missense_Mutation_p.R1033W|TEK_uc011lnp.1_Missense_Mutation_p.R928W	NM_000459	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial precursor	1076	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ACAATGCTGGCGGGAGAAGCC	0.433000												
NOL6	65083	broad.mit.edu	37	9	33465880	33465880	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:33465880G>A	uc003zsz.2	-	19	2481	c.2380C>T	c.(2380-2382)CGG>TGG	p.R794W	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R791W|NOL6_uc011lob.1_Missense_Mutation_p.R742W|NOL6_uc003ztb.1_Missense_Mutation_p.R794W	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	794					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)		ACGCGAATCCGAAACACAAAT	0.582000												
CNTFR	1271	broad.mit.edu	37	9	34552676	34552676	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:34552676A>G	uc003zup.1	-	8	1226	c.945T>C	c.(943-945)GCT>GCC	p.A315A	CNTFR_uc003zuq.1_Silent_p.A315A	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	315					nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCTCACCCGCAGCCTGGGCCT	0.642000												
ARID3C	138715	broad.mit.edu	37	9	34623868	34623868	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:34623868G>A	uc011lon.1	-	3	568	c.568C>T	c.(568-570)CGC>TGC	p.R190C		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	190	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CACTGGGTGCGTAGAGTGAAG	0.721000												
UNC13B	10497	broad.mit.edu	37	9	35399003	35399003	+	Missense_Mutation	SNP	C	C	T	rs141208447		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35399003C>T	uc003zwq.2	+	32	4091	c.3799C>T	c.(3799-3801)CGG>TGG	p.R1267W	UNC13B_uc003zwr.2_Missense_Mutation_p.R1267W	NM_006377	NP_006368	O14795	UN13B_HUMAN	UNC13 (C. elegans)-like	1267	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			ovary(3)|large_intestine(1)|skin(1)	5	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TAGCGTACTCCGGCCTCTCAT	0.587000												
TESK1	7016	broad.mit.edu	37	9	35605979	35605979	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35605979A>G	uc003zxa.2	+	2	556	c.220_splice	c.e2-2	p.V74_splice	TESK1_uc003zwz.1_Splice_Site|TESK1_uc010mks.2_Splice_Site	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1						cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTGCCCCCAGGTTCGGCAC	0.662000												
RECK	8434	broad.mit.edu	37	9	36118778	36118778	+	Missense_Mutation	SNP	G	G	A	rs141528795		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:36118778G>A	uc003zyv.2	+	18	2364	c.2278G>A	c.(2278-2280)GTA>ATA	p.V760I	RECK_uc003zyw.2_Missense_Mutation_p.V632I|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	760	Kazal-like 3.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AACCGAGCCCGTATGTGGGCA	0.537000												
ZBTB5	9925	broad.mit.edu	37	9	37440993	37440993	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:37440993C>A	uc003zzx.2	-	2	1756	c.1556G>T	c.(1555-1557)AGG>ATG	p.R519M		NM_014872	NP_055687	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TATCATTACCCTGGAGAAGGA	0.542000												
TLE4	7091	broad.mit.edu	37	9	82323650	82323650	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:82323650C>T	uc004ald.2	+	14	2136	c.1287C>T	c.(1285-1287)AGC>AGT	p.S429S	TLE4_uc004alc.2_Silent_p.S404S|TLE4_uc010mpr.2_Silent_p.S283S|TLE4_uc004ale.2_Silent_p.S41S|TLE4_uc011lsq.1_Silent_p.S372S|TLE4_uc010mps.2_Silent_p.S328S|TLE4_uc004alf.2_Silent_p.S343S	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						CTCAGATGAGCGCAgctgctg	0.463000												
DAPK1	1612	broad.mit.edu	37	9	90254270	90254270	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:90254270C>A	uc004apc.2	+	5	563	c.425C>A	c.(424-426)CCT>CAT	p.P142H	DAPK1_uc004ape.2_Missense_Mutation_p.P142H|DAPK1_uc004apd.2_Missense_Mutation_p.P142H|DAPK1_uc011ltg.1_Missense_Mutation_p.P142H|DAPK1_uc011lth.1_Translation_Start_Site	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	142	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						TTTTTCAAGCCTGAGAACATA	0.343000									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
KIAA1529	57653	broad.mit.edu	37	9	100070318	100070318	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:100070318C>T	uc011lut.1	+	14	1295	c.522C>T	c.(520-522)CCC>CCT	p.P174P	KIAA1529_uc004axe.1_Silent_p.P174P|KIAA1529_uc004axg.1_Silent_p.P35P|KIAA1529_uc011lus.1_Silent_p.P35P|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Silent_p.P35P|KIAA1529_uc011luv.1_Silent_p.P35P	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GACGGCTTCCCGGCAGGGGCA	0.587000												
KIAA1529	57653	broad.mit.edu	37	9	100092974	100092974	+	Missense_Mutation	SNP	G	G	T	rs34176734		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:100092974G>T	uc011lut.1	+	30	3521	c.2748G>T	c.(2746-2748)GAG>GAT	p.E916D	KIAA1529_uc004axe.1_Missense_Mutation_p.E916D|KIAA1529_uc004axg.1_Missense_Mutation_p.E777D|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E101D|KIAA1529_uc011lus.1_Missense_Mutation_p.E734D|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.E777D|KIAA1529_uc011luv.1_Missense_Mutation_p.E774D	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				aggaagaggaggaggaggaga	0.274000												
TDRD7	23424	broad.mit.edu	37	9	100227190	100227190	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:100227190T>C	uc004axj.2	+	8	1734	c.1509T>C	c.(1507-1509)AGT>AGC	p.S503S	TDRD7_uc011lux.1_Silent_p.S429S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	503					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)				AATATTACAGTAAGAATCCTA	0.453000												
TMEM38B	55151	broad.mit.edu	37	9	108483839	108483839	+	Silent	SNP	G	G	A	rs141978983		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:108483839G>A	uc004bcu.1	+	3	408	c.291G>A	c.(289-291)CCG>CCA	p.P97P	TMEM38B_uc010mtn.1_Intron	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	97	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2						TTTTTTGCCCGCATGACCTAG	0.353000												
ZNF462	58499	broad.mit.edu	37	9	109690562	109690562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:109690562C>T	uc004bcz.2	+	3	4658	c.4369C>T	c.(4369-4371)CAG>TAG	p.Q1457*	ZNF462_uc010mto.2_Nonsense_Mutation_p.Q1305*|ZNF462_uc004bda.2_Nonsense_Mutation_p.Q1305*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	1457					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5						GAAAAGCCTGCAGCTAGCTTC	0.532000												
MUSK	4593	broad.mit.edu	37	9	113547894	113547894	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:113547894G>A	uc004bey.2	+	12	1772	c.1674G>A	c.(1672-1674)CCG>CCA	p.P558P	MUSK_uc004bez.1_Silent_p.P138P	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	558	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						AGAGGATGCCGCTCCTTCTGA	0.498000												
GAPVD1	26130	broad.mit.edu	37	9	128099537	128099537	+	Silent	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:128099537T>C	uc010mwx.2	+	17	2870	c.2544T>C	c.(2542-2544)GCT>GCC	p.A848A	GAPVD1_uc011lzs.1_Silent_p.A848A|GAPVD1_uc004bpp.2_Silent_p.A875A|GAPVD1_uc004bpq.2_Silent_p.A848A|GAPVD1_uc004bpr.2_Silent_p.A827A|GAPVD1_uc004bps.2_Silent_p.A848A|GAPVD1_uc010mwy.1_Silent_p.A681A	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	848					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TTCACTATGCTAGGCCATCGC	0.313000												
LAMC3	10319	broad.mit.edu	37	9	133928328	133928328	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:133928328G>A	uc004caa.1	+	11	2013	c.1915G>A	c.(1915-1917)GTC>ATC	p.V639I		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	639	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGCCTCCGCGTCAGTCCCGG	0.682000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C9orf98	158067	broad.mit.edu	37	9	135750575	135750575	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:135750575C>G	uc004cbu.1	-	2	652	c.96G>C	c.(94-96)GAG>GAC	p.E32D	C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Intron	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	putative adenylate kinase-like protein C9orf98	32						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity				0				OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)		TCAGGAGTTGCTCCAGCATGT	0.547000												
RALGDS	5900	broad.mit.edu	37	9	136037753	136037753	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:136037753G>A	uc011mcw.1	-	2	328	c.47C>T	c.(46-48)GCG>GTG	p.A16V	GBGT1_uc004ccx.2_5'UTR|GBGT1_uc010nab.2_Missense_Mutation_p.A16V|GBGT1_uc011mcx.1_Missense_Mutation_p.A16V|GBGT1_uc004ccw.2_Missense_Mutation_p.A16V|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Missense_Mutation_p.A16V	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	Error:Variant_position_missing_in_Q12967_after_alignment					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTTGTGCCCGCCAACAGGCA	0.488000			T	CIITA	PMBL|Hodgkin Lymphona|							
SNAPC4	6621	broad.mit.edu	37	9	139272401	139272401	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139272401C>T	uc004chh.2	-	21	3887	c.3878G>A	c.(3877-3879)CGT>CAT	p.R1293H		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1293	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AAGAGGCACACGCACCCCCCG	0.706000												
NOTCH1	4851	broad.mit.edu	37	9	139418408	139418408	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139418408G>A	uc004chz.2	-	3	164	c.164C>T	c.(163-165)CCG>CTG	p.P55L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	55	Extracellular (Potential).|EGF-like 1.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCATCGCGGGCCCACGAA	0.682000			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)		
ABCA2	20	broad.mit.edu	37	9	139908775	139908775	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139908775C>T	uc011mem.1	-	26	4230	c.4082G>A	c.(4081-4083)CGG>CAG	p.R1361Q	ABCA2_uc011mel.1_Missense_Mutation_p.R1362Q|ABCA2_uc004ckl.1_Missense_Mutation_p.R1292Q|ABCA2_uc004ckm.1_Missense_Mutation_p.R1392Q|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1361					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTCCGAGCACCGGGCCAGATT	0.682000												
ENTPD2	954	broad.mit.edu	37	9	139943197	139943197	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:139943197A>G	uc004ckw.1	-	9	1456	c.1400T>C	c.(1399-1401)CTC>CCC	p.L467P	NPDC1_uc004ckr.2_5'Flank|NPDC1_uc004ckt.2_5'Flank|NPDC1_uc004cku.2_5'Flank|ENTPD2_uc004ckv.1_Missense_Mutation_p.L156P|ENTPD2_uc004ckx.1_Missense_Mutation_p.L444P	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	467	Helical; (Potential).					integral to membrane	ATP binding				0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGCAGCAGGAGGACGACCCA	0.682000												
TPRN	286262	broad.mit.edu	37	9	140086686	140086686	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:140086686A>G	uc004clt.2	-	3	1915	c.1915T>C	c.(1915-1917)TGG>CGG	p.W639R	TPRN_uc004clu.2_Intron	NM_173691	NP_775962	Q4KMQ1	TPRN_HUMAN	hypothetical protein LOC286262 isoform 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					sensory perception of sound	stereocilium					0						GACTCCCCCCAGCGCTCCACT	0.667000												
NOXA1	10811	broad.mit.edu	37	9	140325259	140325259	+	Silent	SNP	C	C	T	rs142901709	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:140325259C>T	uc004cmv.2	+	6	771	c.636C>T	c.(634-636)GAC>GAT	p.D212D	C9orf167_uc011mew.1_Intron|NOXA1_uc004cmu.2_Silent_p.D212D|NOXA1_uc010nch.2_Intron	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	212	Mediates interaction with RAC1.				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity				0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCATCCCCGACGACCAGGGCT	0.697000												
CSF2RA	1438	broad.mit.edu	37	X	1409308	1409308	+	Silent	SNP	A	A	G	rs144461474	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:1409308A>G	uc010nct.2	+	8	874	c.552A>G	c.(550-552)TCA>TCG	p.S184S	CSF2RA_uc011mhb.1_Silent_p.S184S|CSF2RA_uc004cpq.2_Silent_p.S184S|CSF2RA_uc004cpn.2_Silent_p.S184S|CSF2RA_uc004cpo.2_Silent_p.S184S|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.S51S|CSF2RA_uc004cpp.2_Silent_p.S184S|CSF2RA_uc010ncv.2_Silent_p.S184S|CSF2RA_uc004cpr.2_Silent_p.S184S	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	184	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATAACCTGTCAGGATTAACGT	0.398000												
ZBED1	9189	broad.mit.edu	37	X	2406990	2406990	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:2406990A>G	uc004cqg.2	-	2	1972	c.1771T>C	c.(1771-1773)TGG>CGG	p.W591R	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.W591R	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	591						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)				CGGTCTGACCACCACTTGAGG	0.637000												
ZBED1	9189	broad.mit.edu	37	X	2408297	2408297	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:2408297G>A	uc004cqg.2	-	2	665	c.464C>T	c.(463-465)ACG>ATG	p.T155M	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.T155M	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	155						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)				GGGGTCGGCCGTCTTCAGCAG	0.647000												
PHEX	5251	broad.mit.edu	37	X	22095682	22095682	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:22095682C>T	uc004dah.2	+	5	728	c.525C>T	c.(523-525)GGC>GGT	p.G175G	PHEX_uc011mjr.1_Silent_p.G175G|PHEX_uc011mjs.1_Silent_p.G78G	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	175	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						CTAATATTGGCCCTGAAGGGG	0.483000												
PHEX	5251	broad.mit.edu	37	X	22129611	22129611	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:22129611G>T	uc004dah.2	+	10	1309	c.1106G>T	c.(1105-1107)AGA>ATA	p.R369I	PHEX_uc011mjr.1_Missense_Mutation_p.R369I|PHEX_uc011mjs.1_Missense_Mutation_p.R272I	NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	369	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3						TTGGTGTGGAGAATGGTTTAT	0.403000												
PTCHD1	139411	broad.mit.edu	37	X	23411237	23411237	+	Silent	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:23411237C>T	uc004dal.3	+	3	1610	c.1602C>T	c.(1600-1602)ACC>ACT	p.T534T		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	patched domain containing 1	534					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			ovary(4)|kidney(1)|skin(1)	6						TTGTAGCAACCGCGACACAAA	0.403000												
MED14	9282	broad.mit.edu	37	X	40542144	40542144	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:40542144A>G	uc004dex.3	-	17	2302	c.2162T>C	c.(2161-2163)GTA>GCA	p.V721A		NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	721	Interaction with SREBF1.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						TAACTCTGCTACCCAAGTGCG	0.428000												
NYX	60506	broad.mit.edu	37	X	41333037	41333037	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:41333037C>T	uc004dfh.2	+	2	761	c.331C>T	c.(331-333)CGC>TGC	p.R111C	NYX_uc011mku.1_Missense_Mutation_p.R106C	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	nyctalopin precursor	111	LRR 3.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				lung(2)	2						GGGCCTGCCGCGCCTGGCTGA	0.726000												
EFHC2	80258	broad.mit.edu	37	X	44035573	44035573	+	Silent	SNP	A	A	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:44035573A>C	uc004dgb.3	-	14	2097	c.2007T>G	c.(2005-2007)CCT>CCG	p.P669P		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	669							calcium ion binding			breast(3)|ovary(2)|central_nervous_system(1)	6						CATCACTCAAAGGTAATCTGG	0.363000												
CXorf36	79742	broad.mit.edu	37	X	45051247	45051247	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:45051247G>A	uc004dgg.2	-	2	322	c.247C>T	c.(247-249)CTG>TTG	p.L83L	CXorf36_uc004dgi.3_Silent_p.L83L	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	hypothetical protein LOC79742 isoform 1	83						extracellular region				lung(1)	1						TGGGAAGCCAGCCAGTTGTCA	0.517000												
HDAC6	10013	broad.mit.edu	37	X	48673431	48673431	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:48673431A>G	uc011mmi.1	+	14	1217	c.1122A>G	c.(1120-1122)GCA>GCG	p.A374A	HDAC6_uc004dks.1_Silent_p.A374A|HDAC6_uc010nig.1_Silent_p.A222A|HDAC6_uc004dkt.1_Silent_p.A374A|HDAC6_uc011mmk.1_Silent_p.A355A|HDAC6_uc004dkv.1_5'UTR|HDAC6_uc004dkw.1_5'UTR	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	374	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	TGGGTCTGGCAGGAGGCAAGC	0.552000												
KCND1	3750	broad.mit.edu	37	X	48826286	48826286	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:48826286G>A	uc004dlx.1	-	1	1966	c.393C>T	c.(391-393)TGC>TGT	p.C131C	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related	131	Cytoplasmic (Potential).	Zinc (By similarity).				voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			ovary(2)|lung(1)	3						CTTCAAGGCAGCAGTCACCGA	0.647000												
FOXP3	50943	broad.mit.edu	37	X	49107881	49107881	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:49107881C>T	uc004dnf.3	-	12	1398	c.1210G>A	c.(1210-1212)GCT>ACT	p.A404T	FOXP3_uc011mnb.1_Missense_Mutation_p.A427T|FOXP3_uc011mnc.1_Missense_Mutation_p.A377T|FOXP3_uc004dne.3_Missense_Mutation_p.A369T|FOXP3_uc010niq.1_Missense_Mutation_p.A429T	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	forkhead box P3 isoform a	404	Fork-head.				B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein 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 corepressor activity|zinc ion binding				0	Ovarian(276;0.236)					GTCCACACAGCCCCCTTCTCG	0.622000												
SMC1A	8243	broad.mit.edu	37	X	53410093	53410093	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:53410093G>A	uc004dsg.2	-	20	3124	c.3055C>T	c.(3055-3057)CGT>TGT	p.R1019C	SMC1A_uc011moe.1_Missense_Mutation_p.R997C	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1019	Potential.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			ovary(5)|central_nervous_system(1)	6						GCGGCAATACGCTGAAGCACA	0.532000												
ITIH5L	347365	broad.mit.edu	37	X	54776525	54776525	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:54776525C>T	uc004dtj.2	-	13	3775	c.3745G>A	c.(3745-3747)GCA>ACA	p.A1249T		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	1249					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						CGGATGTCTGCGTGCTGGAAC	0.587000												
STARD8	9754	broad.mit.edu	37	X	67940212	67940212	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:67940212C>T	uc004dxa.2	+	7	2128	c.1756C>T	c.(1756-1758)CCA>TCA	p.P586S	STARD8_uc004dxb.2_Missense_Mutation_p.P666S|STARD8_uc004dxc.3_Missense_Mutation_p.P586S	NM_014725	NP_055540	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain	586	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			breast(3)|ovary(2)|pancreas(1)	6						CCAGCCACTGCCACAGAGCAT	0.642000												
DGAT2L6	347516	broad.mit.edu	37	X	69420151	69420151	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:69420151C>T	uc004dxx.1	+	4	411	c.314C>T	c.(313-315)GCC>GTC	p.A105V		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	105	Helical; (Potential).				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(1)	1						TACATCATTGCCAATCACCCC	0.463000												
TGIF2LX	90316	broad.mit.edu	37	X	89177504	89177504	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:89177504G>A	uc004efe.2	+	2	469	c.420G>A	c.(418-420)GCG>GCA	p.A140A		NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	140						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GCACCGAGGCGTCTGTGCCGG	0.582000												
SYTL4	94121	broad.mit.edu	37	X	99936233	99936233	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:99936233G>A	uc004egd.3	-	16	1905	c.1549C>T	c.(1549-1551)CGG>TGG	p.R517W	SYTL4_uc004egc.2_5'Flank|SYTL4_uc010nnb.2_Missense_Mutation_p.R189W|SYTL4_uc010nnc.2_Missense_Mutation_p.R517W|SYTL4_uc004ege.3_Missense_Mutation_p.R517W|SYTL4_uc004egf.3_Missense_Mutation_p.R517W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	517	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			ovary(2)	2					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCTTTTTCCGGTCACCTCCA	0.517000												
ARMCX1	51309	broad.mit.edu	37	X	100808097	100808097	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:100808097G>A	uc004ehv.2	+	4	555	c.184G>A	c.(184-186)GCT>ACT	p.A62T	ARMCX1_uc004ehw.2_Missense_Mutation_p.A62T	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	62						integral to membrane	binding			ovary(3)|pancreas(1)	4						TAAAACTAACGCTGGGGCAGG	0.532000												
BEX2	84707	broad.mit.edu	37	X	102564886	102564886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:102564886G>A	uc004ekb.2	-	3	258	c.19C>T	c.(19-21)CGA>TGA	p.R7*	BEX2_uc004eka.2_Nonsense_Mutation_p.R36*	NM_032621	NP_116010	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	7					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				ovary(1)	1						TTTAACGCTCGTTCCTCTTTG	0.468000												
COL4A6	1288	broad.mit.edu	37	X	107406166	107406166	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:107406166C>T	uc004enw.3	-	41	4278	c.4175G>A	c.(4174-4176)GGC>GAC	p.G1392D	COL4A6_uc004env.3_Missense_Mutation_p.G1391D|COL4A6_uc011msn.1_Missense_Mutation_p.G1367D|COL4A6_uc010npk.2_Missense_Mutation_p.G1334D|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_5'UTR	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1392	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						CCCAGTGAGGCCAGGGATGCC	0.572000									Alport_syndrome_with_Diffuse_Leiomyomatosis			
CHRDL1	91851	broad.mit.edu	37	X	109937511	109937511	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:109937511C>T	uc004eou.3	-	8	1007	c.658G>A	c.(658-660)GCT>ACT	p.A220T	CHRDL1_uc004eov.2_Missense_Mutation_p.A214T|CHRDL1_uc004eow.2_Missense_Mutation_p.A219T|CHRDL1_uc010nps.2_Missense_Mutation_p.A219T|CHRDL1_uc004eot.2_Missense_Mutation_p.A140T|CHRDL1_uc011mss.1_Missense_Mutation_p.A134T	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	213					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						AGACCTCCAGCCTGTCGGCTT	0.478000												
AMOT	154796	broad.mit.edu	37	X	112033859	112033859	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:112033859T>G	uc004epr.2	-	7	2078	c.2078A>C	c.(2077-2079)CAT>CCT	p.H693P	AMOT_uc004eps.2_Missense_Mutation_p.H284P	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN	angiomotin isoform 1	693					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity			ovary(1)	1						CAGAGCAAAATGTCTCATCAC	0.478000												
DOCK11	139818	broad.mit.edu	37	X	117764371	117764371	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:117764371A>G	uc004eqp.2	+	35	3867	c.3804A>G	c.(3802-3804)GTA>GTG	p.V1268V	DOCK11_uc004eqq.2_Silent_p.V1047V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1268					blood coagulation	cytosol	GTP binding			ovary(3)	3						GGAGTAGTGTATCCCAGTATA	0.393000												
SLC25A14	9016	broad.mit.edu	37	X	129505599	129505599	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:129505599T>C	uc004evn.1	+	10	1130	c.917T>C	c.(916-918)CTT>CCT	p.L306P	SLC25A14_uc004evo.1_Missense_Mutation_p.L127P|SLC25A14_uc004evp.1_Missense_Mutation_p.L306P|SLC25A14_uc004evq.1_Missense_Mutation_p.L303P|SLC25A14_uc004evr.1_Missense_Mutation_p.L334P	NM_003951	NP_003942	O95258	UCP5_HUMAN	solute carrier family 25, member 14 isoform	306	Helical; Name=6; (Potential).|Solcar 3.				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			ovary(1)	1						TGGCTTCGGCTTGGACCCTGG	0.398000												
SAGE1	55511	broad.mit.edu	37	X	134995056	134995056	+	Silent	SNP	A	A	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:134995056A>G	uc004ezh.2	+	20	2882	c.2715A>G	c.(2713-2715)TAA>TAG	p.*905*	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.1_Silent_p.*529*	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	905										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GAAAAAGATAATTGTGTTAGT	0.383000												
CXorf40B	541578	broad.mit.edu	37	X	149102068	149102068	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:149102068G>A	uc004fdy.2	-	4	541	c.25C>T	c.(25-27)CGG>TGG	p.R9W	CXorf40B_uc011mxs.1_RNA	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	hypothetical protein LOC541578	9											0	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGGCTGCCGGAAGGAGAGG	0.597000												
VMA21	203547	broad.mit.edu	37	X	150573447	150573447	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:150573447G>A	uc004feu.2	+	3	299	c.223G>A	c.(223-225)GCC>ACC	p.A75T		NM_001017980	NP_001017980	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog	75	Helical; (Potential).				vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome					0						TGCAGTGGTCGCCGTCCATGT	0.458000												
HCFC1	3054	broad.mit.edu	37	X	153219914	153219914	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:153219914G>A	uc004fjp.2	-	17	4464	c.3936C>T	c.(3934-3936)AGC>AGT	p.S1312S		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1312					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCTGGGCGCTGCCTGCAT	0.672000												
FLNA	2316	broad.mit.edu	37	X	153594462	153594462	+	Silent	SNP	G	G	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:153594462G>A	uc004fkk.2	-	9	1608	c.1359C>T	c.(1357-1359)GTC>GTT	p.V453V	FLNA_uc010nuu.1_Silent_p.V453V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	453	Filamin 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACGGTGTGGACGCCCTCCA	0.667000												
PLXNA3	55558	broad.mit.edu	37	X	153689684	153689684	+	Silent	SNP	C	C	T	rs149751983		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:153689684C>T	uc004flm.2	+	3	1013	c.840C>T	c.(838-840)ATC>ATT	p.I280I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	280	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)					AATTCCCCATCGGCTGCTCCT	0.637000												
ACP2	53	broad.mit.edu	37	11	47266285	47266285	+	Splice_Site	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:47266285delC	uc001nei.2	-	7	889	c.772_splice	c.e7+1	p.G258_splice	ACP2_uc010rhe.1_Splice_Site_p.G230_splice|ACP2_uc009ylj.2_Splice_Site_p.G186_splice|ACP2_uc010rhf.1_Splice_Site_p.G226_splice|ACP2_uc010rhg.1_Splice_Site_p.G195_splice|ACP2_uc010rhh.1_Splice_Site_p.G71_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1							integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						TTGTCACTCACCCCCCTGAAG	0.562												
EPPK1	83481	broad.mit.edu	37	8	144940074	144940081	+	Splice_Site	DEL	AAAAAAAC	AAAAAAAC	-	rs6558397		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144940074_144940081delAAAAAAAC	uc003zaa.1	-	3	15358	c.15345_splice	c.e3-1			NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1							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)			aatgacaaaaaaaaaaacaaaaaaaaaa	0.351												
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
CEBPZ	10153	broad.mit.edu	37	2	37430154	37430154	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:37430153_37430153TA>T	uc002rpz.3	-	14	2915	c.2885_splice	c.e14-1	p.G962_splice	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	962					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCTTGGCCCTAAAAAAAATT	0.269												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
TRANK1	9881	broad.mit.edu	37	3	36876253	36876253	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:36876252_36876252CT>C	uc003cgj.3	-	20	5779	c.5531_splice	c.e20+1	p.K1844_splice		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1844					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAACCACCTACTTTTCCACTG	0.478												
GPR149	344758	broad.mit.edu	37	3	154145305	154145305	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:154145304_154145304CT>C	uc003faa.3	-	2	1274	c.1174_splice	c.e2+1	p.I392_splice		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	392						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGAGGACTTACTTTTTTTCCC	0.488												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
MLL3	58508	broad.mit.edu	37	7	151836879	151836879	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	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							
KIF5B	3799	broad.mit.edu	37	10	32307245	32307245	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:32307244_32307244CT>C	uc001iwe.4	-	22	2909	c.2439_splice	c.e22+1	p.K813_splice		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	813					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GTTACATTACCTTTTTAACTC	0.368			T	"""RET, ALK"""	NSCLC							
ATL3	25923	broad.mit.edu	37	11	63420050	63420050	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:63420049_63420049TA>T	uc001nxk.1	-	4	682	c.406_splice	c.e4-1	p.V136_splice	ATL3_uc010rms.1_Splice_Site_p.V118_splice	NM_015459	NP_056274	Q6DD88	ATLA3_HUMAN	Homo sapiens atlastin GTPase 3 (ATL3), mRNA.	136					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AACTGCAACCTAAAAAAAAGG	0.373												
PSTPIP2	9050	broad.mit.edu	37	18	43595906	43595906	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:43595905_43595905TA>T	uc002lbp.4	-	4	309	c.213_splice	c.e4-1	p.N71_splice	PSTPIP2_uc002lbq.4_Splice_Site_p.N71_splice	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	71	FCH.					membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTCAGGGTGCTAAAAAAAACA	0.383												
YIPF2	78992	broad.mit.edu	37	19	11034678	11034678	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:11034677_11034677TG>T	uc002mqc.3	-	7	612	c.485_splice	c.e7-1	p.V162_splice	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Splice_Site_p.V162_splice	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	162						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCACGGTCACTGGGGGGGGCA	0.672												
PI4KA	5297	broad.mit.edu	37	22	21188946	21188947	+	Splice_Site	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:21188945_21188946T>TA	uc002zsz.4	-	3	361	c.100_splice	c.e3-1	p.H34_splice	PI4KA_uc010gsq.2_Splice_Site_p.H120_splice	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	34					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCTTTGTGCtaaaaaataata	0.356												
HIVEP3	59269	broad.mit.edu	37	1	42048716	42048716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:42048716delG	uc001cgz.3	-	4	2966	c.1753delC	c.(1753-1755)CGGfs	p.R585fs	HIVEP3_uc001cha.3_Frame_Shift_Del_p.R585fs|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	585	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTCAGCATCCGGGGGTGGGAG	0.597												
CLDN19	149461	broad.mit.edu	37	1	43204235	43204236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:43204235_43204236insC	uc001cht.1	-	2	435_436	c.244_245insG	c.(244-246)GCCfs	p.A82fs	CLDN19_uc001chu.2_Frame_Shift_Ins_p.A82fs|CLDN19_uc010ojv.1_Frame_Shift_Ins_p.A82fs	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	claudin 19 isoform a	82	Helical; (Potential).				calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding				0	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACCATCAGGGCCCGCGCTGAT	0.658												
PTCH2	8643	broad.mit.edu	37	1	45288153	45288154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:45288153_45288154insG	uc010olf.1	-	22	3557_3558	c.3545_3546insC	c.(3544-3546)CCTfs	p.P1182fs	PTCH2_uc010olg.1_Frame_Shift_Ins_p.P880fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	patched 2	1182	Cytoplasmic (Potential).				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAGGGGACCAAGGGGGCTCATC	0.629									Basal_Cell_Nevus_syndrome			
OSBPL9	114883	broad.mit.edu	37	1	52246930	52246930	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:52246930delA	uc001cst.2	+	16	1370	c.1351delA	c.(1351-1353)AAAfs	p.K451fs	OSBPL9_uc001css.2_Frame_Shift_Del_p.K456fs|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Frame_Shift_Del_p.K452fs|OSBPL9_uc001csu.2_Frame_Shift_Del_p.K461fs|OSBPL9_uc001csv.2_Frame_Shift_Del_p.K286fs|OSBPL9_uc001csw.2_Frame_Shift_Del_p.K438fs|OSBPL9_uc001csy.2_Frame_Shift_Del_p.K273fs|OSBPL9_uc001csz.2_Frame_Shift_Del_p.K273fs|OSBPL9_uc001cta.2_Frame_Shift_Del_p.K341fs|OSBPL9_uc001ctb.2_Frame_Shift_Del_p.K236fs	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	451					lipid transport		lipid binding			central_nervous_system(1)	1						ATCAGTTGCCAAAAAGCCATA	0.428												
LHX8	431707	broad.mit.edu	37	1	75602895	75602896	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:75602895_75602896delGT	uc001dgo.2	+	4	880_881	c.216_217delGT	c.(214-219)AAGTGTfs	p.K72fs	LHX8_uc001dgq.2_Frame_Shift_Del_p.K11fs	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	72_73	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTCCTGGCAAGTGTGTGTGCAA	0.678												
KCNC4	3749	broad.mit.edu	37	1	110754518	110754519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:110754518_110754519insG	uc001dzh.2	+	1	454_455	c.397_398insG	c.(397-399)TGGfs	p.W133fs	KCNC4_uc001dzf.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc009wfr.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzg.2_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	133	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTCACCTTCTGGGGCATCGAC	0.673												
MAGI3	260425	broad.mit.edu	37	1	114185046	114185046	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:114185046delA	uc001edk.2	+	10	2055	c.1874delA	c.(1873-1875)CAAfs	p.Q625fs	MAGI3_uc001edh.3_Frame_Shift_Del_p.Q650fs|MAGI3_uc001edi.3_Frame_Shift_Del_p.Q625fs|MAGI3_uc010owm.1_Frame_Shift_Del_p.Q650fs|MAGI3_uc001edj.2_Frame_Shift_Del_p.Q346fs	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	650	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATACCATCAAAATGTGCAG	0.403												
RPRD2	23248	broad.mit.edu	37	1	150418791	150418791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:150418791delA	uc009wlr.2	+	7	985	c.784delA	c.(784-786)AAAfs	p.K262fs	RPRD2_uc010pcc.1_Frame_Shift_Del_p.K236fs|RPRD2_uc001eup.3_Frame_Shift_Del_p.K236fs	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	262							protein binding			ovary(1)	1						TAAGCAGGTGAAAAACGGACC	0.363												
IGSF9	57549	broad.mit.edu	37	1	159900598	159900599	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:159900598_159900599insC	uc001fur.2	-	14	1894_1895	c.1696_1697insG	c.(1696-1698)GCTfs	p.A566fs	IGSF9_uc001fuq.2_Frame_Shift_Ins_p.A550fs|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	566	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGTGAGCAGCCCCCACAGGC	0.619												
CR2	1380	broad.mit.edu	37	1	207644227	207644227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:207644227delG	uc001hfw.2	+	7	1462	c.1368delG	c.(1366-1368)GAGfs	p.E456fs	CR2_uc001hfv.2_Frame_Shift_Del_p.E456fs|CR2_uc009xch.2_Frame_Shift_Del_p.E456fs|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus)	456	Sushi 7.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						GTACCTCTGAGGGGGTGTGGA	0.448												
EXOC8	149371	broad.mit.edu	37	1	231471450	231471450	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:231471450delA	uc001huq.2	-	1	2129	c.2042delT	c.(2041-2043)TTAfs	p.L681fs		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	681					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGTTTCATATAAAAAGGATGC	0.423												
PCNXL2	80003	broad.mit.edu	37	1	233313614	233313614	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:233313614delT	uc001hvl.2	-	17	3442	c.3207delA	c.(3205-3207)AAAfs	p.K1069fs	PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1069						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGTAAAAATTTAGGAAACA	0.413												
FMN2	56776	broad.mit.edu	37	1	240256111	240256112	+	Frame_Shift_Ins	INS	-	-	C	rs149103365	by1000genomes	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:240256111_240256112insC	uc010pyd.1	+	1	927_928	c.702_703insC	c.(700-705)GCGCCCfs	p.A234fs	FMN2_uc010pye.1_Frame_Shift_Ins_p.A234fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	234_235					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)			AGCCTGCAGCGCCCCCCACTGC	0.540												
FMN2	56776	broad.mit.edu	37	1	240371335	240371335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:240371335delC	uc010pyd.1	+	5	3448	c.3223delC	c.(3223-3225)CCCfs	p.P1075fs	FMN2_uc010pye.1_Frame_Shift_Del_p.P1079fs	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1075	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCC	0.731												
ACP2	53	broad.mit.edu	37	11	47266285	47266285	+	Splice_Site	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:47266285delC	uc001nei.2	-	7	889	c.772_splice	c.e7+1	p.G258_splice	ACP2_uc010rhe.1_Splice_Site_p.G230_splice|ACP2_uc009ylj.2_Splice_Site_p.G186_splice|ACP2_uc010rhf.1_Splice_Site_p.G226_splice|ACP2_uc010rhg.1_Splice_Site_p.G195_splice|ACP2_uc010rhh.1_Splice_Site_p.G71_splice|ACP2_uc010rhi.1_Splice_Site_p.G71_splice|ACP2_uc009ylk.2_Splice_Site_p.G225_splice	NM_001610	NP_001601	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal isoform 1							integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			ovary(1)	1						TTGTCACTCACCCCCCTGAAG	0.562												
TNKS1BP1	85456	broad.mit.edu	37	11	57070273	57070273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:57070273delG	uc001njr.2	-	6	4655	c.4343delC	c.(4342-4344)CCAfs	p.P1448fs	TNKS1BP1_uc001njp.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njq.2_Frame_Shift_Del_p.P20fs|TNKS1BP1_uc001njs.2_Frame_Shift_Del_p.P1448fs	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1448	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				GCCGGAGGGTGGGGGGCGGGC	0.682												
OR4D9	390199	broad.mit.edu	37	11	59282706	59282706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:59282706delG	uc010rkv.1	+	1	321	c.321delG	c.(319-321)CTGfs	p.L107fs		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	107	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCCACCTTCTGGGGGGAGCAG	0.488												
C11orf48	79081	broad.mit.edu	37	11	62435132	62435134	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:62435132_62435134delTCT	uc001nue.2	-	4	834_836	c.399_401delAGA	c.(397-402)GAAGAT>GAT	p.E133del	C11orf48_uc001nuf.2_In_Frame_Del_p.E133del|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_In_Frame_Del_p.E133del	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	159											0						CCAACAAGCATCTTCTTCATCCT	0.537												
MYEOV	26579	broad.mit.edu	37	11	69063724	69063724	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:69063724delG	uc001oov.2	+	3	1257	c.807delG	c.(805-807)CTGfs	p.L269fs	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Frame_Shift_Del_p.L269fs|MYEOV_uc001oow.2_Frame_Shift_Del_p.L211fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	269											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TTGAGGCCCTGGGGGGGTGGC	0.597												
SLC36A4	120103	broad.mit.edu	37	11	92887400	92887401	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:92887400_92887401insA	uc001pdn.2	-	10	1177_1178	c.1080_1081insT	c.(1078-1083)TTTGTGfs	p.F360fs	SLC36A4_uc001pdm.2_Frame_Shift_Ins_p.F225fs	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	360_361	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)				GAATATGTCACAAAAATGCCAA	0.302												
ADAMTS8	11095	broad.mit.edu	37	11	130278693	130278693	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:130278693delC	uc001qgg.3	-	7	2251	c.1893delG	c.(1891-1893)GGGfs	p.G631fs	ADAMTS8_uc001qgf.2_Frame_Shift_Del_p.G112fs	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	631	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ACTCGCTCCTCCCCCGGGCTC	0.622												
RIMKLB	57494	broad.mit.edu	37	12	8926321	8926321	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:8926321delG	uc001quu.2	+	6	1353	c.1102delG	c.(1102-1104)GGGfs	p.G368fs	RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Frame_Shift_Del_p.G368fs|RIMKLB_uc010sgl.1_Frame_Shift_Del_p.G368fs|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family	368					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding				0						CAAGCTCCCAGGGGGCCTGTT	0.512												
GYS2	2998	broad.mit.edu	37	12	21712605	21712605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:21712605delT	uc001rfb.2	-	9	1464	c.1209delA	c.(1207-1209)AAAfs	p.K403fs		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	403					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						CATCATAGAGTTTTTTTCCAA	0.289												
ZCRB1	85437	broad.mit.edu	37	12	42707703	42707703	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:42707703delT	uc001rmz.2	-	6	628	c.419delA	c.(418-420)AAGfs	p.K140fs	PPHLN1_uc001rmy.2_Intron	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	140	Poly-Lys.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			skin(1)	1	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		AGGAGCTTTCTTTTTTTTCTT	0.343												
ENDOU	8909	broad.mit.edu	37	12	48106392	48106392	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:48106392delT	uc001rpu.1	-	8	1033	c.879delA	c.(877-879)AAAfs	p.K293fs	ENDOU_uc010sll.1_Frame_Shift_Del_p.K59fs|ENDOU_uc001rpt.1_Frame_Shift_Del_p.K252fs|ENDOU_uc010slm.1_Frame_Shift_Del_p.K230fs	NM_006025	NP_006016	P21128	ENDOU_HUMAN	placental protein 11 precursor	293					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			ovary(2)|pancreas(1)	3						TAACCTTGCCTTTTTTTACCT	0.502												
UHRF1BP1L	23074	broad.mit.edu	37	12	100441791	100441791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:100441791delA	uc001tgq.2	-	18	4131	c.3902delT	c.(3901-3903)TTGfs	p.L1301fs	UHRF1BP1L_uc001tgp.2_Frame_Shift_Del_p.L951fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	1301										ovary(2)	2						TTCATCTTCCAAAAAATGTTG	0.274												
PMCH	5367	broad.mit.edu	37	12	102591346	102591346	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:102591346delT	uc001tjl.2	-	1	269	c.203delA	c.(202-204)AATfs	p.N68fs		NM_002674	NP_002665	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	68					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity				0						GCTCTCATCATTTTTATATTG	0.343												
ULK1	8408	broad.mit.edu	37	12	132402065	132402066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:132402065_132402066insC	uc001uje.2	+	22	2560_2561	c.2292_2293insC	c.(2290-2295)ACGCCCfs	p.T764fs		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	764_765					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCGGGAGCACGCCCCCCCAGGG	0.718												
PDS5B	23047	broad.mit.edu	37	13	33344568	33344568	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:33344568delA	uc010abf.2	+	32	4092	c.3934delA	c.(3934-3936)AAAfs	p.K1312fs	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1312					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GAAAACTTCTAAAAAAGGAAG	0.423												
ZC3H13	23091	broad.mit.edu	37	13	46549602	46549603	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:46549602_46549603insCT	uc010tfw.1	-	11	2289_2290	c.2283_2284insAG	c.(2281-2286)GAGCGAfs	p.E761fs	ZC3H13_uc001vas.1_Frame_Shift_Ins_p.E761fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.E761fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	761_762	Arg/Glu-rich.|Potential.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tcccgttctcgctctctctccc	0.144												
TDRD3	81550	broad.mit.edu	37	13	61084778	61084779	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:61084778_61084779insGG	uc001via.2	+	10	1539_1540	c.751_752insGG	c.(751-753)AGGfs	p.R251fs	TDRD3_uc010aef.2_Frame_Shift_Ins_p.R76fs|TDRD3_uc001vhz.3_Frame_Shift_Ins_p.R251fs|TDRD3_uc010aeg.2_Frame_Shift_Ins_p.R344fs|TDRD3_uc001vib.3_Frame_Shift_Ins_p.R250fs	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	251					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGGAAAAGGCAGGGGGCGAATA	0.347												
TEP1	7011	broad.mit.edu	37	14	20852227	20852227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:20852227delC	uc001vxe.2	-	24	3544	c.3504delG	c.(3502-3504)GGGfs	p.G1168fs	TEP1_uc010ahk.2_Frame_Shift_Del_p.G518fs|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Frame_Shift_Del_p.G1060fs|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1168	ATP (Potential).|NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTCCTGACTGCCCCGTCACCA	0.642												
SALL2	6297	broad.mit.edu	37	14	21992285	21992285	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:21992285delT	uc001wbe.2	-	2	1859	c.1577delA	c.(1576-1578)AACfs	p.N526fs	SALL2_uc010tly.1_Frame_Shift_Del_p.N524fs|SALL2_uc010tlz.1_Frame_Shift_Del_p.N389fs|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Frame_Shift_Del_p.N391fs|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	526							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGGGGTGTTTTCATCAGC	0.527												
NFATC4	4776	broad.mit.edu	37	14	24843554	24843563	+	Frame_Shift_Del	DEL	GCCCCAGGTG	GCCCCAGGTG	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:24843554_24843563delGCCCCAGGTG	uc001wpc.2	+	6	2076_2085	c.1755_1764delGCCCCAGGTG	c.(1753-1764)CTGCCCCAGGTGfs	p.L585fs	NFATC4_uc010tok.1_Frame_Shift_Del_p.L648fs|NFATC4_uc010tol.1_Frame_Shift_Del_p.L648fs|NFATC4_uc010alr.2_Frame_Shift_Del_p.L648fs|NFATC4_uc010als.2_3'UTR|NFATC4_uc010tom.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010ton.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010too.1_Frame_Shift_Del_p.L598fs|NFATC4_uc010alt.2_Frame_Shift_Del_p.L617fs|NFATC4_uc010top.1_Frame_Shift_Del_p.L617fs|NFATC4_uc010toq.1_Frame_Shift_Del_p.L617fs|NFATC4_uc010alu.2_3'UTR|NFATC4_uc010tor.1_Frame_Shift_Del_p.L585fs|NFATC4_uc010tos.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010tot.1_Frame_Shift_Del_p.L573fs|NFATC4_uc010tou.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010tov.1_Frame_Shift_Del_p.L573fs|NFATC4_uc010tow.1_Frame_Shift_Del_p.L515fs|NFATC4_uc010alv.2_Frame_Shift_Del_p.L573fs|NFATC4_uc010tox.1_Frame_Shift_Del_p.L515fs|NFATC4_uc001wpd.2_Frame_Shift_Del_p.L120fs|NFATC4_uc010toy.1_Frame_Shift_Del_p.L120fs|NFATC4_uc010toz.1_Frame_Shift_Del_p.L120fs|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	585_588	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CCCAGGAGCTGCCCCAGGTGGAGGCCTACA	0.633												
TTC9	23508	broad.mit.edu	37	14	71109123	71109123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:71109123delC	uc001xmi.2	+	1	620	c.277delC	c.(277-279)CCCfs	p.P93fs	uc001xmh.1_5'Flank	NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	93							binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GCTGCTGCCGCCCCCCGGGGA	0.667												
SIPA1L1	26037	broad.mit.edu	37	14	72190553	72190554	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:72190553_72190554insA	uc001xms.2	+	16	4809_4810	c.4461_4462insA	c.(4459-4464)TGGAAAfs	p.W1487fs	SIPA1L1_uc001xmt.2_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmu.2_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmv.2_Frame_Shift_Ins_p.W1487fs|SIPA1L1_uc010ttm.1_Frame_Shift_Ins_p.W941fs|SIPA1L1_uc001xmw.2_Frame_Shift_Ins_p.W252fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1487_1488					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGATTGGATGGAAAAAACCCGA	0.416												
VASH1	22846	broad.mit.edu	37	14	77229171	77229171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:77229171delG	uc001xst.2	+	1	937	c.7delG	c.(7-9)GGGfs	p.G3fs	VASH1_uc001xss.2_Frame_Shift_Del_p.G3fs	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647												
ASB2	51676	broad.mit.edu	37	14	94405856	94405857	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:94405856_94405857delGC	uc001ycc.1	-	6	1559_1560	c.1070_1071delGC	c.(1069-1071)CGCfs	p.R357fs	ASB2_uc001ycb.1_Frame_Shift_Del_p.R51fs|ASB2_uc001ycd.2_Frame_Shift_Del_p.R405fs|ASB2_uc001yce.1_Frame_Shift_Del_p.R303fs	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	357					intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTCGTAGAGGCGCGCGCGCTC	0.708												
C15orf2	23742	broad.mit.edu	37	15	24921326	24921326	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:24921326delC	uc001ywo.2	+	1	786	c.312delC	c.(310-312)AACfs	p.N104fs		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	104					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)		CTGCTCGGAACCCCCCGAGGT	0.677												
COPS2	9318	broad.mit.edu	37	15	49426244	49426244	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:49426244delA	uc001zxf.2	-	8	856	c.777delT	c.(775-777)TTTfs	p.F259fs	COPS2_uc001zxh.2_Frame_Shift_Del_p.F266fs|COPS2_uc010ufa.1_Frame_Shift_Del_p.F195fs	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	259	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TGAAGGCTTCAAAAAAATCAG	0.353												
SEMA4B	10509	broad.mit.edu	37	15	90766838	90766841	+	Frame_Shift_Del	DEL	CCTC	CCTC	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr15:90766838_90766841delCCTC	uc002boy.2	+	9	1192_1195	c.909_912delCCTC	c.(907-912)TTCCTCfs	p.F303fs	SEMA4B_uc002boz.2_Frame_Shift_Del_p.F303fs|SEMA4B_uc010uqd.1_Frame_Shift_Del_p.F141fs|SEMA4B_uc002bpa.2_Frame_Shift_Del_p.F141fs|SEMA4B_uc010bnv.1_5'UTR	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GGACCTCCTTCCTCAAGGCCCAGC	0.652												
CASKIN1	57524	broad.mit.edu	37	16	2231521	2231522	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:2231521_2231522insC	uc010bsg.1	-	18	1879_1880	c.1847_1848insG	c.(1846-1848)GGCfs	p.G616fs		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	616					signal transduction	cytoplasm				skin(2)	2						GGCGCAGGGGGCCCCCCTCATA	0.653												
TRAP1	10131	broad.mit.edu	37	16	3716059	3716059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:3716059delT	uc002cvt.3	-	12	1385	c.1296delA	c.(1294-1296)AAAfs	p.K432fs	TRAP1_uc002cvs.2_Frame_Shift_Del_p.K223fs|TRAP1_uc010uxf.1_Frame_Shift_Del_p.K379fs	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	432					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)				TCTCAGCATCTTTTTTACTCT	0.448												
GPR139	124274	broad.mit.edu	37	16	20043085	20043085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:20043085delT	uc002dgu.1	-	2	1196	c.1034delA	c.(1033-1035)AATfs	p.N345fs	GPR139_uc010vaw.1_Frame_Shift_Del_p.N252fs	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	345	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						AGGTTTTCCATTTTTGTCATA	0.458												
SRCAP	10847	broad.mit.edu	37	16	30734923	30734923	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:30734923delC	uc002dze.1	+	25	4563	c.4178delC	c.(4177-4179)GCCfs	p.A1393fs	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A1188fs|SRCAP_uc010bzz.1_Frame_Shift_Del_p.A963fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1393	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CCCGGAGCTGCCCCCTTGACC	0.572												
FAM92B	339145	broad.mit.edu	37	16	85135924	85135924	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:85135924delA	uc010vok.1	-	6	703	c.547delT	c.(547-549)TGTfs	p.C183fs		NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	hypothetical protein LOC339145	183										central_nervous_system(1)	1						ACAAAGTCACAAAAAAATTTC	0.507												
PELP1	27043	broad.mit.edu	37	17	4574987	4574987	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:4574987delT	uc002fyi.3	-	16	3525	c.3299delA	c.(3298-3300)AAGfs	p.K1100fs	PELP1_uc010vsf.1_Frame_Shift_Del_p.K876fs	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1100	Glu-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2						GCCTCTCACCTTTTCCTGGAG	0.602												
KIAA0100	9703	broad.mit.edu	37	17	26961947	26961947	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:26961947delA	uc002hbu.2	-	16	2757	c.2658delT	c.(2656-2658)TTTfs	p.F886fs		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	886						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GTTTCACCTCAAAAACATCAT	0.483												
CUEDC1	404093	broad.mit.edu	37	17	55962835	55962835	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:55962835delG	uc002ivd.1	-	2	810	c.91delC	c.(91-93)CAGfs	p.Q31fs	CUEDC1_uc002ive.1_Frame_Shift_Del_p.Q31fs	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	31										skin(2)	2						TTGAGCTCCTggggggcggcc	0.443												
TNRC6C	57690	broad.mit.edu	37	17	76047106	76047107	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:76047106_76047107insG	uc002jud.2	+	4	2563_2564	c.1963_1964insG	c.(1963-1965)TGGfs	p.W655fs	TNRC6C_uc002juf.2_Frame_Shift_Ins_p.W655fs|TNRC6C_uc002jue.2_Frame_Shift_Ins_p.W655fs	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	655	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGTACAAACTGGGGGGAGACT	0.510												
PSMG2	56984	broad.mit.edu	37	18	12720544	12720544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:12720544delA	uc002krk.2	+	5	486	c.443delA	c.(442-444)CAAfs	p.Q148fs	PSMG2_uc002krg.2_Frame_Shift_Del_p.Q117fs|PSMG2_uc002krj.1_Frame_Shift_Del_p.Q148fs	NM_020232	NP_064617	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly	148					proteasome assembly	nucleus	protein binding				0						CCTTCCATGCAAAAAAGTGTT	0.343												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677												
ALPK2	115701	broad.mit.edu	37	18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:56246941delA	uc002lhj.3	-	4	1281	c.1067delT	c.(1066-1068)TTAfs	p.L356fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	356							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NCLN	56926	broad.mit.edu	37	19	3204745	3204745	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3204745delG	uc002lxi.2	+	9	1358	c.1204delG	c.(1204-1206)GTGfs	p.V402fs	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Frame_Shift_Del_p.V47fs	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	402	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATGGACGTGCGGTGAGC	0.701												
ZNF626	199777	broad.mit.edu	37	19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:20808338delT	uc002npb.1	-	4	495	c.345delA	c.(343-345)AAAfs	p.K115fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.K39fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTATACATCCTTTTTTTAACT	0.353												
RYR1	6261	broad.mit.edu	37	19	39068674	39068675	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:39068674_39068675insG	uc002oit.2	+	98	14419_14420	c.14289_14290insG	c.(14287-14292)CCAGGGfs	p.P4763fs	RYR1_uc002oiu.2_Frame_Shift_Ins_p.P4758fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4763_4764					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)	ACCCGCCGCCAGGGCTGCTGAC	0.653												
LTBP4	8425	broad.mit.edu	37	19	41117787	41117787	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:41117787delC	uc002ooh.1	+	17	2277	c.2277delC	c.(2275-2277)AGCfs	p.S759fs	LTBP4_uc002oog.1_Frame_Shift_Del_p.S722fs|LTBP4_uc002ooi.1_Frame_Shift_Del_p.S692fs|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc010xvo.1_Frame_Shift_Del_p.A50fs|LTBP4_uc010ehb.1_5'UTR|LTBP4_uc002ook.1_5'UTR|LTBP4_uc002ool.1_5'Flank|LTBP4_uc002oom.1_5'Flank|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding	759	Cys-rich.|EGF-like 8; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGCCCGAAGCCCCCCACCCT	0.622												
PVR	5817	broad.mit.edu	37	19	45153247	45153248	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:45153247_45153248delCA	uc002ozm.2	+	3	893_894	c.594_595delCA	c.(592-597)GGCACAfs	p.G198fs	PVR_uc010ejs.2_Frame_Shift_Del_p.G198fs|PVR_uc010xxb.1_Frame_Shift_Del_p.G198fs|PVR_uc010xxc.1_Frame_Shift_Del_p.G198fs|PVR_uc002ozn.2_Frame_Shift_Del_p.G143fs	NM_006505	NP_006496	P15151	PVR_HUMAN	poliovirus receptor isoform alpha	198_199	Extracellular (Potential).|Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity				0	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCCTGTCTGGCACAGTCACTGT	0.614												
SYNGR4	23546	broad.mit.edu	37	19	48879543	48879544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:48879543_48879544insC	uc002piz.2	+	5	918_919	c.673_674insC	c.(673-675)TCCfs	p.S225fs		NM_012451	NP_036583	O95473	SNG4_HUMAN	synaptogyrin 4	225						integral to membrane					0		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CGCTCCAAAGTCCCCCCGGCTT	0.530												
PRR12	57479	broad.mit.edu	37	19	50102880	50102880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:50102880delG	uc002poo.3	+	5	4030	c.4030delG	c.(4030-4032)GGGfs	p.G1344fs		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	proline rich 12	523	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)		CTTTGGGCTTGGGGGCGCCCT	0.677												
LTBP1	4052	broad.mit.edu	37	2	33590553	33590554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:33590553_33590554insC	uc002ros.2	+	31	4697_4698	c.4697_4698insC	c.(4696-4698)TGCfs	p.C1566fs	LTBP1_uc002rot.2_Frame_Shift_Ins_p.C1240fs|LTBP1_uc002rou.2_Frame_Shift_Ins_p.C1239fs|LTBP1_uc002rov.2_Frame_Shift_Ins_p.C1186fs|LTBP1_uc010ymz.1_Frame_Shift_Ins_p.C1197fs|LTBP1_uc010yna.1_Frame_Shift_Ins_p.C1144fs|LTBP1_uc010ynb.1_Frame_Shift_Ins_p.C463fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1565	TB 4.				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)				TGTGCCCTCTGCCCCCTGAAGG	0.540												
ZFP36L2	678	broad.mit.edu	37	2	43452885	43452886	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:43452885_43452886delTC	uc002rsv.3	-	2	348_349	c.57_58delGA	c.(55-60)GAGAAAfs	p.E19fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	zinc finger protein 36, C3H type-like 2	19_20					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)				GCCAGGGATTTCTCTGTCTGCC	0.624												
NRXN1	9378	broad.mit.edu	37	2	50574000	50574001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:50574000_50574001insC	uc010fbp.2	-	1	894_895	c.87_88insG	c.(85-90)GGGCGCfs	p.G29fs	NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	29_30					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGGGCCAGGCGCCCCCCTGcgc	0.579												
VAX2	25806	broad.mit.edu	37	2	71160188	71160188	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:71160188delC	uc002shh.2	+	3	759	c.727delC	c.(727-729)CCCfs	p.P243fs	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	243					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						CCCACTGCCGCCCCCTCTGCC	0.672												
TTN	7273	broad.mit.edu	37	2	179395589	179395589	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:179395589delT	uc010zfg.1	-	307	98273	c.98049delA	c.(98047-98049)AAAfs	p.K32683fs	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.K26378fs|TTN_uc010zfi.1_Frame_Shift_Del_p.K26311fs|TTN_uc010zfj.1_Frame_Shift_Del_p.K26186fs|TTN_uc002umq.2_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33610							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCACTCGTTTTGGAGACT	0.502												
SP100	6672	broad.mit.edu	37	2	231326044	231326044	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:231326044delA	uc002vqt.2	+	9	1029	c.888delA	c.(886-888)ATAfs	p.I296fs	SP100_uc002vqs.2_Frame_Shift_Del_p.I296fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I296fs|SP100_uc010zmb.1_Frame_Shift_Del_p.I296fs|SP100_uc002vqq.1_Frame_Shift_Del_p.I296fs|SP100_uc002vqr.1_Frame_Shift_Del_p.I271fs|SP100_uc010zmc.1_Frame_Shift_Del_p.I271fs|SP100_uc002vqv.1_Frame_Shift_Del_p.I260fs	NM_003113	NP_003104	P23497	SP100_HUMAN	nuclear antigen Sp100 isoform 2	296	PxVxL motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			ovary(4)|central_nervous_system(1)	5		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGTGGATATAAAAAAGGAAA	0.398												
TP53INP2	58476	broad.mit.edu	37	20	33296586	33296586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:33296586delC	uc002xau.1	+	3	378	c.43delC	c.(43-45)CCCfs	p.P15fs		NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	15						nucleus					0						CACCCCCTCGCCCCCCGAAGA	0.662												
CD40	958	broad.mit.edu	37	20	44757522	44757522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:44757522delC	uc002xrg.1	+	9	754	c.677delC	c.(676-678)GCCfs	p.A226fs	CD40_uc002xrh.1_3'UTR|CD40_uc002xri.1_3'UTR|CD40_uc002xrj.1_RNA|CD40_uc002xrk.1_RNA|CD40_uc002xrl.1_RNA	NM_001250	NP_001241	P25942	TNR5_HUMAN	CD40 antigen isoform 1 precursor	226	Cytoplasmic (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)	CCTCTCCAGGCCCCCCACCCC	0.627									Immune_Deficiency_with_Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCK1	5105	broad.mit.edu	37	20	56140815	56140816	+	Frame_Shift_Ins	INS	-	-	GA	rs17847705		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:56140815_56140816insGA	uc002xyn.3	+	10	1987_1988	c.1824_1825insGA	c.(1822-1827)ATCGAGfs	p.I608fs	PCK1_uc010zzm.1_Frame_Shift_Ins_p.I291fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	608_609					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGTGAAATCGAGAGAGAGAT	0.465												
TTC3	7267	broad.mit.edu	37	21	38512963	38512963	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:38512963delA	uc002yvz.2	+	20	1867	c.1762delA	c.(1762-1764)AAAfs	p.K588fs	TTC3_uc011aee.1_Frame_Shift_Del_p.K278fs|TTC3_uc002ywa.2_Frame_Shift_Del_p.K588fs|TTC3_uc002ywb.2_Frame_Shift_Del_p.K588fs|TTC3_uc010gnf.2_Frame_Shift_Del_p.K353fs|TTC3_uc002ywc.2_Frame_Shift_Del_p.K278fs|TTC3_uc011aed.1_Frame_Shift_Del_p.K278fs|TTC3_uc010gne.1_Frame_Shift_Del_p.K588fs	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	588	TPR 4.				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)				AGTATATTTGAAAAAAAACAG	0.348												
COL18A1	80781	broad.mit.edu	37	21	46916425	46916425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:46916425delC	uc011afs.1	+	29	3786	c.3765delC	c.(3763-3765)GGCfs	p.G1255fs	COL18A1_uc002zhg.2_Frame_Shift_Del_p.G840fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.G1020fs	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1255	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAATGCCCGGCCCCCCAGGAC	0.582												
MICAL3	57553	broad.mit.edu	37	22	18300311	18300311	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:18300311delG	uc002zng.3	-	26	5469	c.5116delC	c.(5116-5118)CGCfs	p.R1706fs	MICAL3_uc011agl.1_Frame_Shift_Del_p.R1622fs|MICAL3_uc010gre.1_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	1706						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TTGTTTCTGCGGGGGGAGAAG	0.622												
L3MBTL2	83746	broad.mit.edu	37	22	41609902	41609903	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:41609902_41609903delTG	uc003azo.2	+	3	322_323	c.268_269delTG	c.(268-270)TGTfs	p.C90fs	L3MBTL2_uc010gyi.1_5'UTR|L3MBTL2_uc003azn.2_RNA|uc003azp.1_RNA	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	90	FCS-type.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						CCCAGCTGTCTGTGAGATGTGT	0.520												
CELSR1	9620	broad.mit.edu	37	22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:46931227delC	uc003bhw.1	-	1	1841	c.1841delG	c.(1840-1842)GGCfs	p.G614fs		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	614	Extracellular (Potential).|Cadherin 4.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGCTGCCGCCCCCCAGAAA	0.657												
LRRC31	79782	broad.mit.edu	37	3	169579523	169579523	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:169579523delT	uc003fgc.1	-	2	331	c.254delA	c.(253-255)AAGfs	p.K85fs	LRRC31_uc010hwp.1_Frame_Shift_Del_p.K85fs	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	85										ovary(2)|skin(1)	3	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GTTGACAGCCTTTTTGCCCAG	0.408												
FAM193A	8603	broad.mit.edu	37	4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:2661593delC	uc010icl.2	+	8	1035	c.684delC	c.(682-684)GACfs	p.D228fs	FAM193A_uc010ick.2_Frame_Shift_Del_p.D428fs|FAM193A_uc003gfd.2_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvm.1_Frame_Shift_Del_p.D252fs|FAM193A_uc011bvn.1_Frame_Shift_Del_p.D228fs|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Frame_Shift_Del_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	228										ovary(3)	3						GTATCATGGACCCCCCCGTCA	0.522												
BMPR1B	658	broad.mit.edu	37	4	96025646	96025646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:96025646delC	uc003htm.3	+	4	345	c.71delC	c.(70-72)ACCfs	p.T24fs	BMPR1B_uc010ilb.2_Frame_Shift_Del_p.T24fs|BMPR1B_uc003htn.3_Frame_Shift_Del_p.T24fs	NM_001203	NP_001194	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	24	Extracellular (Potential).				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			lung(4)|skin(2)|stomach(1)|breast(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ACAGCCCCCACCCCCCGTCCA	0.433												
BBS12	166379	broad.mit.edu	37	4	123664721	123664722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:123664721_123664722insA	uc003ieu.2	+	2	1867_1868	c.1674_1675insA	c.(1672-1677)CTGAAAfs	p.L558fs		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	558_559					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						AGCAATCTCTGAAAAAAGAAAA	0.426									Bardet-Biedl_syndrome			
ODZ3	55714	broad.mit.edu	37	4	183714567	183714567	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:183714567delT	uc003ivd.1	+	25	6779	c.6742delT	c.(6742-6744)TTTfs	p.F2248fs		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2248	YD 22.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCACCTGCAGTTTTTTTATGC	0.443												
CCDC110	256309	broad.mit.edu	37	4	186379943	186379943	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:186379943delT	uc003ixu.3	-	6	1874	c.1798delA	c.(1798-1800)AGCfs	p.S600fs	CCDC110_uc003ixv.3_Frame_Shift_Del_p.S563fs|CCDC110_uc011ckt.1_Frame_Shift_Del_p.S600fs	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110 isoform a	600	Potential.					nucleus				central_nervous_system(1)	1		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		CCAAGTGAGCTTTTTTCTTTT	0.323												
TRIO	7204	broad.mit.edu	37	5	14387627	14387627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:14387627delA	uc003jff.2	+	22	3657	c.3651delA	c.(3649-3651)ATAfs	p.I1217fs	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Frame_Shift_Del_p.I1168fs|TRIO_uc003jfh.1_Frame_Shift_Del_p.I866fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1217					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)					CGGCAGAGATAAAAAAATGTG	0.443												
MCC	4163	broad.mit.edu	37	5	112487025	112487025	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:112487025delT	uc003kqj.3	-	2	682	c.152delA	c.(151-153)AAGfs	p.K51fs	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Frame_Shift_Del_p.K241fs|MCC_uc011cwb.1_Frame_Shift_Del_p.K51fs|MCC_uc010jcd.1_Intron	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	51					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GGCCAATTTCTTTTCCAGAAG	0.398												
KIF20A	10112	broad.mit.edu	37	5	137519413	137519413	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:137519413delG	uc003lcj.2	+	10	1672	c.1176delG	c.(1174-1176)CAGfs	p.Q392fs	KIF20A_uc011cyo.1_Frame_Shift_Del_p.Q374fs	NM_005733	NP_005724	O95235	KI20A_HUMAN	kinesin family member 20A	392	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACACCTTCAGGGGGAAGGAG	0.423												
SLC6A7	6534	broad.mit.edu	37	5	149580755	149580755	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:149580755delC	uc003lrr.2	+	6	1198	c.827delC	c.(826-828)ACCfs	p.T276fs		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTCTATCTCACCCCCCAGTTC	0.632												
EHMT2	10919	broad.mit.edu	37	6	31864763	31864763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:31864763delC	uc003nxz.1	-	2	56	c.46delG	c.(46-48)GAGfs	p.E16fs	EHMT2_uc003nxy.1_5'Flank|EHMT2_uc011don.1_Frame_Shift_Del_p.E73fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.E16fs|EHMT2_uc003nyb.1_Frame_Shift_Del_p.E16fs|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	16					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						GCGGGGGCCTCCCCCTGGGAG	0.652												
GPSM3	63940	broad.mit.edu	37	6	32160020	32160020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:32160020delG	uc003oay.3	-	2	443	c.50delC	c.(49-51)CCTfs	p.P17fs	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.2_5'Flank|GPSM3_uc003oax.3_Frame_Shift_Del_p.L7fs|GPSM3_uc003oaz.2_Frame_Shift_Del_p.P17fs	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3 (AGS3-like, C.	17	Pro-rich.				signal transduction	cytoplasm	GTPase activator activity|protein binding				0						CTCATCCTGAGGGGGGCCCTG	0.622												
HEY2	23493	broad.mit.edu	37	6	126080802	126080802	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:126080802delC	uc003qad.2	+	5	1059	c.868delC	c.(868-870)CCCfs	p.P290fs	HEY2_uc011ebr.1_Frame_Shift_Del_p.P244fs	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	hairy/enhancer-of-split related with YRPW motif	290	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCCCATGCTTCCCCCAAACGC	0.652												
RUNDC3B	154661	broad.mit.edu	37	7	87258157	87258157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:87258157delG	uc003ujb.2	+	1	429	c.18delG	c.(16-18)CTGfs	p.L6fs	ABCB1_uc003uiz.1_Intron|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron|RUNDC3B_uc011khd.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc011khe.1_Frame_Shift_Del_p.L6fs|RUNDC3B_uc003ujc.2_Frame_Shift_Del_p.L6fs	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	6										skin(1)	1	Esophageal squamous(14;0.00164)					CCCGGAGCCTGGGGGGCCTGA	0.701												
TAF6	6878	broad.mit.edu	37	7	99706154	99706155	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:99706154_99706155delCA	uc003uti.2	-	13	1374_1375	c.1293_1294delTG	c.(1291-1296)TGTGCTfs	p.C431fs	AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Frame_Shift_Del_p.C353fs|TAF6_uc003uth.2_Frame_Shift_Del_p.C488fs|TAF6_uc003utk.2_Frame_Shift_Del_p.C431fs|TAF6_uc011kji.1_Frame_Shift_Del_p.C468fs|TAF6_uc003utj.2_Frame_Shift_Del_p.C421fs|TAF6_uc003utl.2_Frame_Shift_Del_p.C431fs|TAF6_uc003utm.2_Frame_Shift_Del_p.C431fs	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	431_432					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAACAGGAGCACAGTGTTTCT	0.574												
MUC17	140453	broad.mit.edu	37	7	100676652	100676654	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:100676652_100676654delCTC	uc003uxp.1	+	3	2008_2010	c.1955_1957delCTC	c.(1954-1959)ACTCCT>ACT	p.P653del	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	653	Extracellular (Potential).|8.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAACAACTCCTGTTGACTC	0.478												
ARHGEF35	445328	broad.mit.edu	37	7	143884068	143884068	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:143884068delA	uc003wdz.1	-	2	1527	c.1409delT	c.(1408-1410)TTGfs	p.L470fs		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	470											0						CTCCTCAGTCAAAAAGGAGCC	0.373												
MLL3	58508	broad.mit.edu	37	7	151845524	151845524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:151845524delA	uc003wla.2	-	52	13707	c.13488delT	c.(13486-13488)TTTfs	p.F4496fs	MLL3_uc003wkz.2_Frame_Shift_Del_p.F3614fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.F654fs|MLL3_uc003wky.2_Frame_Shift_Del_p.F2060fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4496					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)		TTTTGTCCTTAAAAAACATGC	0.433			N		medulloblastoma							
SOX17	64321	broad.mit.edu	37	8	55372288	55372288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:55372288delC	uc003xsb.3	+	2	1182	c.978delC	c.(976-978)CACfs	p.H326fs		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	326	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			accagcaccaCCCCCCGGGCC	0.532												
EPPK1	83481	broad.mit.edu	37	8	144940074	144940081	+	Splice_Site	DEL	AAAAAAAC	AAAAAAAC	-	rs6558397		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:144940074_144940081delAAAAAAAC	uc003zaa.1	-	3	15358	c.15345_splice	c.e3-1			NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1							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)			aatgacaaaaaaaaaaacaaaaaaaaaa	0.351												
DENND4C	55667	broad.mit.edu	37	9	19324482	19324482	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:19324482delT	uc003znq.2	+	9	1255	c.1222delT	c.(1222-1224)TTTfs	p.F408fs	DENND4C_uc011lnc.1_Intron	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	408						integral to membrane				ovary(1)|skin(1)	2						TGGATTAGCATTTTTTGATGA	0.289												
TESK1	7016	broad.mit.edu	37	9	35608960	35608960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35608960delC	uc003zxa.2	+	10	1438	c.1102delC	c.(1102-1104)CCCfs	p.P368fs	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Frame_Shift_Del_p.P208fs	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	368					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCAGAATCACCCCCCAACTG	0.607												
RALGDS	5900	broad.mit.edu	37	9	135981349	135981351	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:135981349_135981351delGTT	uc004cco.2	-	9	1590_1592	c.1570_1572delAAC	c.(1570-1572)AACdel	p.N524del	RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_In_Frame_Del_p.N512del|RALGDS_uc004ccr.2_In_Frame_Del_p.N523del|RALGDS_uc011mcv.1_In_Frame_Del_p.N495del|RALGDS_uc004ccs.2_In_Frame_Del_p.N469del|RALGDS_uc011mcw.1_In_Frame_Del_p.N595del|RALGDS_uc004ccv.1_In_Frame_Del_p.N293del|RALGDS_uc004ccu.1_In_Frame_Del_p.N293del	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	524	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TCAATGAGTAGTTGTTCTCATCT	0.369			T	CIITA	PMBL|Hodgkin Lymphona|							
KIAA0649	9858	broad.mit.edu	37	9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:138379043delG	uc004cfr.1	+	4	3236	c.2687delG	c.(2686-2688)AGGfs	p.R896fs		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	896						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)		CAGAGGGCCAGGGGGGTCCCA	0.701												
IQSEC2	23096	broad.mit.edu	37	X	53285127	53285127	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:53285127delG	uc004dsd.2	-	3	1055	c.854delC	c.(853-855)CCTfs	p.P285fs	IQSEC2_uc004dsc.2_Frame_Shift_Del_p.P80fs	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2 isoform1	275					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3						CACTCCAGCAGGGGGGCCCCC	0.687												
UBQLN2	29978	broad.mit.edu	37	X	56591874	56591874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:56591874delC	uc004dus.2	+	1	1803	c.1568delC	c.(1567-1569)GCCfs	p.A523fs	UBQLN2_uc011moq.1_Intron	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	523	11.|12 X 3 AA tandem repeats of P-X-X.					cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2						GGCCCTGCAGCCCCCCCTGGC	0.642												
ABCB7	22	broad.mit.edu	37	X	74295434	74295434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:74295434delA	uc004eca.2	-	6	643	c.618delT	c.(616-618)TTTfs	p.F206fs	ABCB7_uc004ebz.2_Frame_Shift_Del_p.F207fs|ABCB7_uc011mqn.1_Frame_Shift_Del_p.F180fs|ABCB7_uc010nls.2_Frame_Shift_Del_p.F167fs|ABCB7_uc010nlt.2_Frame_Shift_Del_p.F166fs	NM_004299	NP_004290	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B, member 7	206	ABC transmembrane type-1.|Helical; (Potential).				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			ovary(1)	1						GAACTTCGTTAAAAAAAGCAG	0.358												
RNF128	79589	broad.mit.edu	37	X	106016247	106016247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:106016247delA	uc004eml.2	+	2	839	c.589delA	c.(589-591)AAAfs	p.K197fs	RNF128_uc004emk.2_Frame_Shift_Del_p.K171fs	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	ring finger protein 128 isoform 1	197						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGAAGTAGGGAAAAAACATGG	0.368												
UPF3B	65109	broad.mit.edu	37	X	118977168	118977168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:118977168delT	uc004erz.1	-	5	643	c.566delA	c.(565-567)AATfs	p.N189fs	UPF3B_uc004esa.1_Frame_Shift_Del_p.N189fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B	189	Sufficient for association with EJC core.|Necessary for interaction with UPF2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(2)|kidney(1)	3						TAATTCTCTATTTTTTGCTTC	0.299												
CLDN19	149461	broad.mit.edu	37	1	43204236	43204237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:43204235_43204236G>GC	uc001cht.1	-	1	435_436	c.244_245C>GC	c.(244-246)gccfs	p.A82fs	CLDN19_uc001chu.2_Frame_Shift_Ins_p.A82fs|CLDN19_uc010ojv.1_Frame_Shift_Ins_p.A82fs	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	82					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CACCATCAGGGCCCGCGCTGAT	0.658												
PTCH2	8643	broad.mit.edu	37	1	45288154	45288155	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:45288153_45288154A>AG	uc010olf.2	-	21	3557_3558	c.3545_3546T>CT	c.(3544-3546)cctfs	p.P1182fs	PTCH2_uc021omv.1_Intron|PTCH2_uc010olg.2_Frame_Shift_Ins_p.P880fs	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1182					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGGGGACCAAGGGGGCTCATC	0.629									Basal Cell Nevus syndrome			
KCNC4	3749	broad.mit.edu	37	1	110754519	110754520	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:110754518_110754519T>TG	uc009wfr.3	+	0	1183_1184	c.397_398T>TG	c.(397-399)tggfs	p.W133fs	KCNC4_uc001dzf.3_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzh.3_Frame_Shift_Ins_p.W133fs|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Frame_Shift_Ins_p.W133fs	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	133					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		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)		GCTCACCTTCTGGGGCATCGAC	0.673												
IGSF9	57549	broad.mit.edu	37	1	159900599	159900600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:159900598_159900599G>GC	uc001fur.2	-	13	1894_1895	c.1696_1697C>GC	c.(1696-1698)gctfs	p.A566fs	IGSF9_uc001fuq.2_Frame_Shift_Ins_p.A550fs|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	566	Fibronectin type-III 1.					cell junction|integral to membrane|synapse		p.Q565R(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGTGAGCAGCCCCCACAGGC	0.619												
IGSF8	93185	broad.mit.edu	37	1	160063813	160063814	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:160063812_160063813GGT>G	uc001fva.3	-	2	636_637	c.591_592ACC>C	c.(589-594)cacctgfs	p.H197fs	IGSF8_uc001fuz.3_Frame_Shift_Del_p.H197fs|IGSF8_uc009wtf.3_Frame_Shift_Del_p.H197fs	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	197	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACACTGCCAGGTGTGTGTGCT	0.653												
PAPPA2	60676	broad.mit.edu	37	1	176762724	176762724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:176762723_176762723TC>T	uc001gkz.3	+	19	6212	c.5048_5048TC>T	c.(5047-5049)atcfs	p.I1683fs	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGT	0.473												
CACNA1E	777	broad.mit.edu	37	1	181767673	181767673	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:181767672_181767672AC>A	uc009wxt.3	+	47	6839	c.6644_6644AC>A	c.(6643-6645)cacfs	p.H2215fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.H2172fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.H2153fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2215					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACTCTCCGCACCCCCAGCAG	0.617												
NLRP3	114548	broad.mit.edu	37	1	247588106	247588106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr1:247588105_247588105CG>C	uc001icr.3	+	4	1498	c.1360_1360CG>C	c.(1360-1362)cggfs	p.R454fs	NLRP3_uc001ics.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icu.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icw.3_Frame_Shift_Del_p.R454fs|NLRP3_uc001icv.3_Frame_Shift_Del_p.R454fs|NLRP3_uc010pyw.2_Frame_Shift_Del_p.R452fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.R452fs	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	454	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCAGCCCCGGGGAGGGAG	0.587												
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:10917818_10917819C>CAG	uc002ras.3	+	10	1042_1043	c.933_934C>CAG	c.(931-936)gacagafs	p.D311fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	311					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGCAGACCGACAGAGAGAGAGA	0.609												
LTBP1	4052	broad.mit.edu	37	2	33590554	33590555	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:33590553_33590554G>GC	uc021vft.1	+	30	4717_4718	c.4694_4695G>GC	c.(4693-4695)tgcfs	p.C1565fs	LTBP1_uc002rou.3_Frame_Shift_Ins_p.C1239fs|LTBP1_uc002rov.3_Frame_Shift_Ins_p.C1186fs|LTBP1_uc010ymz.2_Frame_Shift_Ins_p.C1197fs|LTBP1_uc010yna.2_Frame_Shift_Ins_p.C1144fs|LTBP1_uc010ynb.2_Frame_Shift_Ins_p.C463fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1565	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTGCCCTCTGCCCCCTGAAGG	0.540												
C2orf42	54980	broad.mit.edu	37	2	70406777	70406777	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr2:70406776_70406776TA>T	uc002sgh.3	-	4	1152	c.824_splice	c.e4-1	p.G275_splice		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	275										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTTAAGACCTAAAAAAAAGA	0.353												
TRANK1	9881	broad.mit.edu	37	3	36876253	36876253	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:36876252_36876252CT>C	uc003cgj.3	-	20	5779	c.5531_splice	c.e20+1	p.K1844_splice		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1844					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAACCACCTACTTTTCCACTG	0.478												
LRRFIP2	9209	broad.mit.edu	37	3	37114286	37114286	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:37114285_37114285AT>A	uc003cgp.2	-	21	1883	c.1460_1460AT>T	c.(1459-1461)attfs	p.I487fs	LRRFIP2_uc011ayf.1_Frame_Shift_Del_p.I303fs|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 2 (LRRFIP2), transcript variant 1, mRNA.	487					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCATACCCCAATTTTTTTATC	0.398												
KIAA1143	57456	broad.mit.edu	37	3	44795778	44795778	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:44795777_44795777CT>C	uc011bac.2	-	1	271	c.192_192AG>G	c.(190-192)aagfs	p.K64fs		NM_020696	NP_065747	Q96AT1	K1143_HUMAN	Homo sapiens KIAA1143 (KIAA1143), mRNA.	64										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		ACAGGTCTCCCTTTTTTAAAA	0.398												
GOLGB1	2804	broad.mit.edu	37	3	121413503	121413503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:121413502_121413502AT>A	uc010hrc.3	-	12	5994	c.5868_5868AT>T	c.(5866-5868)aatfs	p.N1956fs	GOLGB1_uc003eei.4_Frame_Shift_Del_p.N1951fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.N1917fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.N1876fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.N1837fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.N1915fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1951					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCAATAGCTCATTTTTTATTT	0.358												
EAF2	55840	broad.mit.edu	37	3	121573659	121573659	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:121573658_121573658TA>T	uc003een.3	+	2	425	c.326_326TA>T	c.(325-327)gtafs	p.V109fs	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	109					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		AACATCACTGTAAAAAAAACA	0.249												
NPHP3	27031	broad.mit.edu	37	3	132298379	132298379	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr3:132298378_132298378AT>A	uc003eov.4	-	13	2026	c.1646_1646AT>T	c.(1645-1647)attfs	p.I549fs	NPHP3_uc011blr.1_Frame_Shift_Del_p.I160fs	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACAATTGCAATTTTGCACTT	0.383												
TLR6	10333	broad.mit.edu	37	4	38830974	38830974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:38830973_38830973CT>C	uc010ifg.2	-	1	243	c.122_122AG>G	c.(121-123)agafs	p.R41fs	TLR6_uc003gtm.3_Frame_Shift_Del_p.R41fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	41					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.R41T(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATAAGACCTCTTTTTGACTT	0.388												
AFF1	4299	broad.mit.edu	37	4	88035872	88035872	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:88035871_88035871AG>A	uc011ccz.2	+	11	2161	c.1886_1886AG>A	c.(1885-1887)cagfs	p.Q629fs	AFF1_uc003hqj.4_Frame_Shift_Del_p.Q622fs|AFF1_uc003hqk.4_Frame_Shift_Del_p.Q622fs|AFF1_uc011cda.2_Frame_Shift_Del_p.Q260fs	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	622						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACCAGCCTGCAGGGGGAAAGG	0.617												
ANK2	287	broad.mit.edu	37	4	114274959	114274959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:114274958_114274958TA>T	uc003ibe.4	+	37	5284	c.5184_5184TA>T	c.(5182-5184)cttfs	p.L1728fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.L1743fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1695					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGCTGAACTTAAAAAAGGTA	0.413												
BBS12	166379	broad.mit.edu	37	4	123664722	123664723	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:123664721_123664722G>GA	uc021xrm.1	+	2	2055_2056	c.1674_1675G>GA	c.(1672-1677)ctgaaafs	p.L558fs	BBS12_uc003ieu.3_Frame_Shift_Ins_p.L558fs|BBS12_uc021xrn.1_Frame_Shift_Ins_p.L558fs	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	558					cellular protein metabolic process	cilium	ATP binding	p.E561fs*77(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AGCAATCTCTGAAAAAAGAAAA	0.426									Bardet-Biedl syndrome			
SORBS2	8470	broad.mit.edu	37	4	186515044	186515044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr4:186515043_186515043TC>T	uc003iyg.3	-	18	3505	c.3473_3473GA>A	c.(3472-3474)gaafs	p.E1158fs	SORBS2_uc003iyh.3_Frame_Shift_Del_p.E768fs|SORBS2_uc011ckw.2_Frame_Shift_Del_p.E605fs|SORBS2_uc003iyi.3_Frame_Shift_Del_p.E675fs|SORBS2_uc011ckx.2_Frame_Shift_Del_p.E610fs|SORBS2_uc003iyk.3_Frame_Shift_Del_p.E588fs|SORBS2_uc003iym.3_Frame_Shift_Del_p.E1144fs|SORBS2_uc003iyl.3_Frame_Shift_Del_p.E1044fs|SORBS2_uc003iyn.1_Frame_Shift_Del_p.E635fs|SORBS2_uc011cku.2_Frame_Shift_Del_p.E436fs|SORBS2_uc011ckv.2_Frame_Shift_Del_p.E948fs|SORBS2_uc003iyd.3_Frame_Shift_Del_p.E743fs|SORBS2_uc003iye.3_Frame_Shift_Del_p.E617fs|SORBS2_uc003iya.3_Frame_Shift_Del_p.E564fs|SORBS2_uc003iyb.3_Frame_Shift_Del_p.E517fs|SORBS2_uc003iyc.3_Frame_Shift_Del_p.E497fs|SORBS2_uc003iyf.3_Frame_Shift_Del_p.E580fs	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	1044						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACC	0.353												
PDZD2	23037	broad.mit.edu	37	5	31799657	31799658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:31799656_31799657A>AG	uc003jhl.3	+	1	689_690	c.301_302A>AG	c.(301-303)aggfs	p.R101fs	PDZD2_uc003jhm.3_Frame_Shift_Ins_p.R101fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574												
LMNB1	4001	broad.mit.edu	37	5	126154700	126154701	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:126154699_126154700AAG>A	uc003kud.2	+	5	1911_1912	c.1025_1026AAG>A	c.(1024-1026)aaafs	p.K342fs	LMNB1_uc010jdb.2_Non-coding_Transcript|LMNB1_uc011cxb.2_Frame_Shift_Del_p.K132fs	NM_005573	NP_001185486	P20700	LMNB1_HUMAN	Homo sapiens lamin B1 (LMNB1), transcript variant 1, mRNA.	342	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CTGACAGACAAAGAGAGAGAGA	0.421												
BRD8	10902	broad.mit.edu	37	5	137505021	137505022	+	Frame_Shift_Ins	INS	-	-	G	rs150525307	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:137505020_137505021C>CG	uc003lcf.1	-	7	587_588	c.532_533G>CG	c.(532-534)cggfs	p.R178fs	BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Frame_Shift_Ins_p.R34fs|BRD8_uc003lcg.3_Frame_Shift_Ins_p.R178fs|BRD8_uc003lci.3_Frame_Shift_Ins_p.R178fs|BRD8_uc011cym.2_Frame_Shift_Ins_p.R162fs|BRD8_uc011cyn.1_Frame_Shift_Ins_p.R137fs|BRD8_uc010jes.1_Frame_Shift_Ins_p.R45fs	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	178					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.R178Q(2)|p.R178fs*20(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGGTAACCTCCGGGGGGGTGTT	0.441												
RNF145	153830	broad.mit.edu	37	5	158596066	158596066	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr5:158596065_158596065TA>T	uc010jiq.2	-	8	1179	c.1029_splice	c.e8-1	p.R343_splice	RNF145_uc011ddy.2_Splice_Site_p.R327_splice|RNF145_uc003lxo.2_Splice_Site_p.R341_splice|RNF145_uc011ddz.2_Splice_Site_p.R330_splice|RNF145_uc003lxp.3_Splice_Site_p.R313_splice|RNF145_uc011dea.2_Intron	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	313						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCA	0.363												
KIAA0240	23506	broad.mit.edu	37	6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:42832626_42832626TA>T	uc003osn.1	+	12	2833	c.2682_2682TA>T	c.(2680-2682)tctfs	p.S894fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	894										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GAAACATTTCTAAAAAAACAG	0.493												
CYB5R4	51167	broad.mit.edu	37	6	84634231	84634232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:84634230_84634231C>CA	uc003pkf.3	+	9	865_866	c.733_734C>CA	c.(733-735)caafs	p.Q245fs		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	245	CS.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GATTGTTCTACAAAAAAAAGAG	0.337												
QKI	9444	broad.mit.edu	37	6	163899920	163899921	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr6:163899919_163899920T>TA	uc003qui.3	+	2	944_945	c.393_394T>TA	c.(391-396)gataaafs	p.D131fs	QKI_uc003quj.3_Frame_Shift_Ins_p.D131fs|QKI_uc003quh.3_Frame_Shift_Ins_p.D131fs|QKI_uc003que.3_Frame_Shift_Ins_p.D131fs|QKI_uc003quf.3_Frame_Shift_Ins_p.D131fs|QKI_uc003qug.3_Frame_Shift_Ins_p.D131fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	131	KH.				RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.K134fs*14(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CAATGAGGGATAAAAAAAAGGT	0.361												
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:44120413_44120413TG>T	uc003tjt.3	-	1	383	c.291_291CA>A	c.(289-291)ccafs	p.P97fs	POLM_uc003tju.3_Frame_Shift_Del_p.P97fs|POLM_uc003tjv.3_Non-coding_Transcript|POLM_uc003tjx.2_Frame_Shift_Del_p.P97fs|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Frame_Shift_Del_p.P97fs|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Frame_Shift_Del_p.P97fs|POLM_uc010kxy.2_Frame_Shift_Del_p.P97fs	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCAGCAGAGCTGGGGGGGTGC	0.637								DNA polymerases (catalytic subunits)				
COBL	23242	broad.mit.edu	37	7	51095587	51095587	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:51095586_51095586CT>C	uc003tps.3	-	10	3563	c.3378_3378AG>G	c.(3376-3378)aagfs	p.K1126fs	COBL_uc003tpr.4_Frame_Shift_Del_p.K1069fs|COBL_uc011kcl.2_Frame_Shift_Del_p.K1069fs|COBL_uc003tpp.4_Frame_Shift_Del_p.K855fs|COBL_uc003tpq.4_Frame_Shift_Del_p.K1010fs|COBL_uc003tpo.4_Frame_Shift_Del_p.K611fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1069	WH2 1.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACACACTGGGCTTTTCCTCTC	0.527												
TFEC	22797	broad.mit.edu	37	7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:115594656_115594656CT>C	uc003vhj.2	-	4	676	c.423_423AG>G	c.(421-423)aagfs	p.K141fs	TFEC_uc003vhm.2_Frame_Shift_Del_p.K74fs|TFEC_uc003vhk.2_Frame_Shift_Del_p.K112fs|TFEC_uc003vhl.4_Frame_Shift_Del_p.K112fs|TFEC_uc011kmw.2_Frame_Shift_Del_p.K231fs	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TGTGGTTGTCCTTTTTTTGTC	0.333												
CPA4	51200	broad.mit.edu	37	7	129950720	129950720	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr7:129950719_129950719CA>C	uc003vpr.3	+	8	933	c.886_886CA>C	c.(886-888)caafs	p.Q296fs	CPA4_uc011kpd.2_Frame_Shift_Del_p.Q263fs|CPA4_uc011kpe.2_Frame_Shift_Del_p.Q192fs	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	296					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.Q296K(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					AGATTTCATCCAAAAACATGG	0.517												
ADAM28	10863	broad.mit.edu	37	8	24188783	24188784	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:24188782_24188783C>CA	uc003xdy.3	+	11	1306_1307	c.1223_1224C>CA	c.(1222-1224)ccafs	p.P408fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.P408fs|ADAM28_uc011kzz.2_Frame_Shift_Ins_p.P175fs|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Frame_Shift_Ins_p.P95fs	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	408	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATATCCACTCCAATTTGTGGGA	0.411												
ADAM7	8756	broad.mit.edu	37	8	24350675	24350675	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:24350674_24350674AT>A	uc003xeb.3	+	15	1887	c.1774_1774AT>A	c.(1774-1776)attfs	p.I592fs	ADAM7_uc003xec.3_Frame_Shift_Del_p.I364fs	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	592	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATGCAAAACTATTTTTTTATA	0.418												
ASPH	444	broad.mit.edu	37	8	62559385	62559387	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:62559384_62559386CTTG>C	uc003xuj.3	-	5	811_813	c.542_544CAAG>G	c.(541-546)caagag>cGag	p.181_182QE>R	ASPH_uc011leg.2_In_Frame_Del_p.152_153QE>R|ASPH_uc003xuo.2_In_Frame_Del_p.181_182QE>R|ASPH_uc003xul.3_In_Frame_Del_p.167_168QE>R|ASPH_uc011lei.2_In_Frame_Del_p.167_168QE>R|ASPH_uc011lej.2_Intron|ASPH_uc011leh.2_In_Frame_Del_p.167_168QE>R|ASPH_uc003xum.3_In_Frame_Del_p.181_182QE>R|ASPH_uc003xun.3_Intron|ASPH_uc011lek.2_In_Frame_Del_p.181_182QE>R	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	181	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCATCATCCTCTTGTTGTGGTTC	0.404												
SULF1	23213	broad.mit.edu	37	8	70488373	70488373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:70488372_70488372TC>T	uc003xyg.2	+	4	901	c.340_340TC>T	c.(340-342)tccfs	p.S114fs	SULF1_uc010lza.1_Frame_Shift_Del_p.S114fs|SULF1_uc003xyd.2_Frame_Shift_Del_p.S114fs|SULF1_uc003xye.2_Frame_Shift_Del_p.S114fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.S114fs	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	114					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GAACTGCTCTTCCCCCTCGTG	0.512												
SLCO5A1	81796	broad.mit.edu	37	8	70585215	70585215	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:70585214_70585214CT>C	uc003xyl.3	-	9	3144	c.2437_2437AG>G	c.(2437-2439)gggfs	p.G813fs	SLCO5A1_uc010lzb.3_Frame_Shift_Del_p.G758fs|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	813						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACTGGATCCCTTTTTGCAGG	0.612												
KIFC2	90990	broad.mit.edu	37	8	145692659	145692659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr8:145692658_145692658AG>A	uc003zcz.3	+	3	468	c.403_403AG>A	c.(403-405)aggfs	p.R135fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	135					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCGAAGCCCCAGGGGGAGGCA	0.612											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527												
PTCHD3	374308	broad.mit.edu	37	10	27687763	27687763	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:27687762_27687762TA>T	uc001itu.2	-	3	1883	c.1765_1765TA>A	c.(1765-1767)agafs	p.R589fs		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	589					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AAATAGTCTCTAAAAAACAAA	0.368												
KIF5B	3799	broad.mit.edu	37	10	32307245	32307245	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:32307244_32307244CT>C	uc001iwe.4	-	22	2909	c.2439_splice	c.e22+1	p.K813_splice		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	813					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GTTACATTACCTTTTTAACTC	0.368			T	"""RET, ALK"""	NSCLC							
DDX21	9188	broad.mit.edu	37	10	70733354	70733354	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:70733353_70733353CG>C	uc001jov.1	+	9	1691	c.1601_1601CG>C	c.(1600-1602)acgfs	p.T534fs	DDX21_uc001jow.1_Frame_Shift_Del_p.T466fs	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	534	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTGGAAGGACGGGGGTGTGC	0.413												
SEC24C	9632	broad.mit.edu	37	10	75525560	75525561	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:75525559_75525560T>TC	uc001juw.3	+	10	1548_1549	c.1368_1369T>TC	c.(1366-1371)gttcccfs	p.V456fs	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.3_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.2_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510												
ZNF518A	9849	broad.mit.edu	37	10	97916130	97916130	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:97916129_97916129TA>T	uc001klp.3	+	5	907	c.50_50TA>T	c.(49-51)ttafs	p.L17fs	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Frame_Shift_Del_p.L17fs|ZNF518A_uc001klr.3_Frame_Shift_Del_p.L17fs	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CAAACTACTTTAAAAAAAGAT	0.284												
PWWP2B	170394	broad.mit.edu	37	10	134218255	134218255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr10:134218254_134218254TC>T	uc001lll.4	+	1	279	c.250_250TC>T	c.(250-252)tccfs	p.S84fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.S84fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	84										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGGGTCCAGCTCCCCCCCTCC	0.746												
PTPRJ	5795	broad.mit.edu	37	11	48149450	48149450	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:48149449_48149449CG>C	uc001ngp.4	+	6	1566	c.1211_1211CG>C	c.(1210-1212)gcgfs	p.A404fs	PTPRJ_uc001ngo.4_Frame_Shift_Del_p.A404fs	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	404	Fibronectin type-III 4.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATACATGTGGCGGGGGAGACA	0.532												
SLC36A4	120103	broad.mit.edu	37	11	92887401	92887402	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr11:92887400_92887401C>CA	uc001pdn.3	-	9	1177_1178	c.1080_1081G>TG	c.(1078-1083)tttgtgfs	p.F360fs	SLC36A4_uc001pdm.3_Frame_Shift_Ins_p.F225fs	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	360					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAATATGTCACAAAAATGCCAA	0.302												
PKP2	5318	broad.mit.edu	37	12	33031037	33031039	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:33031036_33031038TCTC>T	uc001rlj.4	-	2	891_893	c.776_778GAGA>A	c.(775-780)gagaac>gAac	p.N260del	PKP2_uc001rlk.4_In_Frame_Del_p.N260del|PKP2_uc010skj.2_In_Frame_Del_p.N260del	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	260					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAGGTAGTTCTCCTTCTCCAA	0.640												
STAT2	6773	broad.mit.edu	37	12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594												
DAO	1610	broad.mit.edu	37	12	109283288	109283289	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr12:109283287_109283288A>AC	uc001tnr.4	+	3	1023_1024	c.352_353A>AC	c.(352-354)accfs	p.T118fs	DAO_uc001tnq.4_Intron|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	118					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TCGGAAGCTGACCCCCAGAGAG	0.520												
ZC3H13	23091	broad.mit.edu	37	13	46549603	46549604	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:46549602_46549603G>GCT	uc010tfw.1	-	10	2289_2290	c.2283_2284C>AGC	c.(2281-2286)gagcgafs	p.E761fs	ZC3H13_uc001vas.1_Frame_Shift_Ins_p.E761fs|ZC3H13_uc001vat.1_Frame_Shift_Ins_p.E761fs	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	761	Arg/Glu-rich.						nucleic acid binding|zinc ion binding	p.R762*(2)|p.R758fs*104(1)		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)		tcccgttctcgctctctctccc	0.520												
TDRD3	81550	broad.mit.edu	37	13	61084779	61084780	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr13:61084778_61084779A>AGG	uc001vhz.4	+	9	1539_1540	c.751_752A>AGG	c.(751-753)aggfs	p.R251fs	TDRD3_uc010aef.2_Frame_Shift_Ins_p.R76fs|TDRD3_uc001via.3_Frame_Shift_Ins_p.R251fs|TDRD3_uc010aeg.3_Frame_Shift_Ins_p.R344fs|TDRD3_uc001vib.4_Frame_Shift_Ins_p.R250fs	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	251					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)		AGGAAAAGGCAGGGGGCGAATA	0.347												
SIPA1L1	26037	broad.mit.edu	37	14	72190554	72190555	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:72190553_72190554G>GA	uc001xms.3	+	15	4822_4823	c.4461_4462G>GA	c.(4459-4464)tggaaafs	p.W1487fs	SIPA1L1_uc001xmt.3_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmu.3_Frame_Shift_Ins_p.W1466fs|SIPA1L1_uc001xmv.3_Frame_Shift_Ins_p.W1487fs|SIPA1L1_uc010ttm.2_Frame_Shift_Ins_p.W941fs	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1487					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGATTGGATGGAAAAAACCCGA	0.500												
DYNC1H1	1778	broad.mit.edu	37	14	102445788	102445788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr14:102445787_102445787CT>C	uc001yks.2	+	2	640	c.476_476CT>C	c.(475-477)cctfs	p.P159fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	159	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAGTGGCTCCTTTTTTTAAG	0.413												
IDH2	3418	broad.mit.edu	37	15	90631918	90631919	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	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							
ATP2A1	487	broad.mit.edu	37	16	28913640	28913641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:28913639_28913640G>GC	uc002dro.1	+	16	2640_2641	c.2456_2457G>GC	c.(2455-2457)cgcfs	p.R819fs	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Frame_Shift_Ins_p.R819fs|ATP2A1_uc002drp.1_Frame_Shift_Ins_p.R694fs	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	819					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658												
LONP2	83752	broad.mit.edu	37	16	48296693	48296693	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:48296692_48296692CA>C	uc002efi.1	+	5	980	c.891_891CA>C	c.(889-891)ctcfs	p.L297fs	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Frame_Shift_Del_p.L253fs	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	297					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCACAGACTCAAAAAAATGC	0.353												
ZC3H18	124245	broad.mit.edu	37	16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:88694458_88694458AC>A	uc010voz.2	+	15	2672	c.2472_2472AC>A	c.(2470-2472)gcafs	p.A824fs	ZC3H18_uc002fky.3_Frame_Shift_Del_p.A800fs|ZC3H18_uc010chw.3_Intron|ZC3H18_uc002fkz.3_Frame_Shift_Del_p.A70fs	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	800						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCAGCAGGCACCCCCCGGGC	0.607												
CBFA2T3	863	broad.mit.edu	37	16	88967982	88967982	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr16:88967981_88967981TG>T	uc002fmm.2	-	1	524	c.235_235CA>A	c.(235-237)agcfs	p.S79fs	CBFA2T3_uc002fml.2_Frame_Shift_Del_p.S18fs|CBFA2T3_uc010cif.1_Frame_Shift_Del_p.S18fs|CBFA2T3_uc002fmn.2_Frame_Shift_Del_p.S79fs	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	79	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCGGCATGCTGGGGGGTGTG	0.701			T	RUNX1	AML							
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	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												
RAB40B	10966	broad.mit.edu	37	17	80615786	80615787	+	Frame_Shift_Ins	INS	-	-	G	rs111549422		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr17:80615785_80615786T>TG	uc002kft.3	-	5	916_917	c.790_791A>CA	c.(790-792)cagfs	p.Q264fs	RAB40B_uc002kfs.3_Non-coding_Transcript	NM_006822	NP_006813	Q12829	RB40B_HUMAN	Homo sapiens RAB40B, member RAS oncogene family (RAB40B), mRNA.	264					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q264P(2)|p.Q264fs*>15(2)|p.P263T(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGGGGGGCTCTGGGGGGGGCGG	0.569												
CTDP1	9150	broad.mit.edu	37	18	77477850	77477850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr18:77477849_77477849GC>G	uc002lnh.2	+	9	2397	c.2250_2250GC>G	c.(2248-2250)gtgfs	p.V750fs	CTDP1_uc002lni.2_Frame_Shift_Del_p.V750fs|CTDP1_uc010drd.2_Frame_Shift_Del_p.V750fs|CTDP1_uc021ult.1_Frame_Shift_Del_p.V631fs	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	750					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GGGAGGGTGTGCCCCCCACCG	0.672												
FZR1	51343	broad.mit.edu	37	19	3532525	3532525	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:3532524_3532524CG>C	uc010dtk.2	+	9	1152	c.1118_1118CG>C	c.(1117-1119)tcgfs	p.S373fs	FZR1_uc002lxt.2_Frame_Shift_Del_p.S373fs|FZR1_uc002lxv.2_Frame_Shift_Del_p.S284fs	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	373					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGGCCTCGGGGGGCGGC	0.647												
FBN3	84467	broad.mit.edu	37	19	8196625	8196625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:8196624_8196624GC>G	uc002mjf.3	-	13	1821	c.1804_1804GC>C	c.(1804-1806)ctgfs	p.L602fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	602	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTACCGCCAGCCCCCCCAGG	0.677												
RYR1	6261	broad.mit.edu	37	19	39068675	39068676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:39068674_39068675A>AG	uc002oit.3	+	97	14419_14420	c.14289_14290A>AG	c.(14287-14292)ccagggfs	p.P4763fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.P4758fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4763					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCCGCCGCCAGGGCTGCTGAC	0.653												
SYNGR4	23546	broad.mit.edu	37	19	48879544	48879545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr19:48879543_48879544T>TC	uc002piz.3	+	4	924_925	c.673_674T>TC	c.(673-675)tccfs	p.S225fs		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	225						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CGCTCCAAAGTCCCCCCGGCTT	0.530												
RALGAPB	57148	broad.mit.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	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												
PTPRT	11122	broad.mit.edu	37	20	40739003	40739003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:40739002_40739002CG>C	uc002xkg.3	-	22	3409	c.3225_3225CG>G	c.(3223-3225)ccgfs	p.P1075fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.P278fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.H1075N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCCAGCTTCCGGGGGGTTGA	0.627												
PCK1	5105	broad.mit.edu	37	20	56140816	56140817	+	Frame_Shift_Ins	INS	-	-	GA	rs17847705		TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:56140815_56140816C>CGA	uc002xyn.4	+	9	1987_1988	c.1824_1825C>CGA	c.(1822-1827)atcgagfs	p.I608fs	PCK1_uc010zzm.2_Frame_Shift_Ins_p.I291fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	608					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGTGAAATCGAGAGAGAGAT	0.465												
DIDO1	11083	broad.mit.edu	37	20	61512074	61512074	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr20:61512073_61512073GC>G	uc002ydr.2	-	15	5547	c.5235_5235GC>C	c.(5233-5235)ggcfs	p.G1745fs	DIDO1_uc002yds.2_Frame_Shift_Del_p.G1745fs	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1745	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGGCTGAGAGCCCCCCACTT	0.682												
CYYR1	116159	broad.mit.edu	37	21	27840848	27840849	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr21:27840847_27840848A>AG	uc002yme.3	-	3	762_763	c.440_441T>CT	c.(439-441)cctfs	p.P147fs	CYYR1_uc002ymd.3_Frame_Shift_Ins_p.P146fs|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	146	Poly-Pro.					integral to membrane		p.P147T(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CAGGATAAGGAGGGGGTGGAGA	0.535												
TSSK2	23617	broad.mit.edu	37	22	19119732	19119732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:19119731_19119731GC>G	uc002zow.2	+	0	1411	c.819_819GC>G	c.(817-819)cagfs	p.Q273fs	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	273					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGTGGCTGCAGCCCCCCAAGC	0.622												
PI4KA	5297	broad.mit.edu	37	22	21188946	21188947	+	Splice_Site	INS	-	-	A			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:21188945_21188946T>TA	uc002zsz.4	-	3	361	c.100_splice	c.e3-1	p.H34_splice	PI4KA_uc010gsq.2_Splice_Site_p.H120_splice	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	34					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCTTTGTGCtaaaaaataata	0.356												
TIMP3	7078	broad.mit.edu	37	22	33255324	33255325	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	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												
MYH9	4627	broad.mit.edu	37	22	36737462	36737463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:36737461_36737462A>AG	uc003apg.3	-	2	674_675	c.443_444T>CT	c.(442-444)cctfs	p.P148fs	MYH9_uc003aph.1_Frame_Shift_Ins_p.P12fs|MYH9_uc003api.1_Frame_Shift_Ins_p.P148fs	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	148	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATAGATGTGAGGGGGCATCTC	0.530			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated			
ZBED4	9889	broad.mit.edu	37	22	50279276	50279276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chr22:50279275_50279275CA>C	uc003bix.2	+	1	2435	c.1965_1965CA>C	c.(1963-1965)gccfs	p.A655fs	ZBED4_uc021wrx.1_Frame_Shift_Del_p.A655fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	655						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACCCAGTTGCCAAAAAAATCA	0.468												
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:129190010_129190010TC>T	uc022cdu.1	+	11	5079	c.5035_5035TC>T	c.(5035-5037)tccfs	p.S1679fs	BCORL1_uc004evc.2_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACGACAGATCCCCCCCAGG	0.607												
MAGEC1	9947	broad.mit.edu	37	X	140993808	140993810	+	In_Frame_Del	DEL	CTC	CTC	-	rs140674361	byFrequency	TCGA-HU-A4G9-01A-11D-A24D-08	TCGA-HU-A4G9-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58d0e07c-dede-4e0a-a7a1-99ed83e47b56	a87e18a7-d785-4228-9b3c-97fa7acb6635	g.chrX:140993807_140993809TCTC>T	uc004fbt.3	+	3	941_943	c.617_619TCTC>T	c.(616-621)ttctcc>tTcc	p.S208del	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	208							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGCTCCTTCTCCTCCACTTT	0.488										HNSCC(15;0.026)		
