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
TNFRSF4	7293	broad.mit.edu	37	1	1147466	1147466	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:1147466C>T	uc001ade.2	-	5	495	c.490G>A	c.(490-492)GCA>ACA	p.A164T	TNFRSF4_uc001adf.2_Missense_Mutation_p.A168T	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	164	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCACAGATTGCGTCCGAGCTA	0.677000												
TNFRSF4	7293	broad.mit.edu	37	1	1147469	1147469	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:1147469C>T	uc001ade.2	-	5	492	c.487G>A	c.(487-489)GAC>AAC	p.D163N	TNFRSF4_uc001adf.2_Missense_Mutation_p.D167N	NM_003327	NP_003318	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily,	163	TNFR-Cys 4.|Extracellular (Potential).				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGATTGCGTCCGAGCTATTG	0.682000												
TP73	7161	broad.mit.edu	37	1	3624162	3624162	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:3624162C>T	uc001akp.2	+	4	346	c.236C>T	c.(235-237)GCG>GTG	p.A79V	TP73_uc001akq.2_Missense_Mutation_p.A79V|TP73_uc010nzj.1_Missense_Mutation_p.A30V|TP73_uc001akr.2_Missense_Mutation_p.A30V|TP73_uc009vlk.1_Missense_Mutation_p.A30V|TP73_uc001aks.2_Missense_Mutation_p.A30V|TP73_uc009vll.2_Missense_Mutation_p.A8V|TP73_uc010nzk.1_Missense_Mutation_p.A8V	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	79					cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGCAGCCGCGCGGCCTCGGCC	0.677000												
TP73	7161	broad.mit.edu	37	1	3638722	3638722	+	Silent	SNP	C	C	T	rs142165895	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:3638722C>T	uc001akp.2	+	5	677	c.567C>T	c.(565-567)GAC>GAT	p.D189D	TP73_uc001akq.2_Silent_p.D189D|TP73_uc010nzj.1_Silent_p.D140D|TP73_uc001akr.2_Silent_p.D140D|TP73_uc009vlk.1_Silent_p.D140D|TP73_uc001aks.2_Silent_p.D140D|TP73_uc010nzk.1_Silent_p.D118D	NM_005427	NP_005418	O15350	P73_HUMAN	tumor protein p73 isoform a	189	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			ovary(1)|lung(1)	2	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACGTGACCGACGTCGTGAAAC	0.647000												
CLSTN1	22883	broad.mit.edu	37	1	9804682	9804682	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:9804682G>A	uc001aqh.2	-	8	1764	c.1005C>T	c.(1003-1005)GCC>GCT	p.A335A	CLSTN1_uc001aqi.2_Silent_p.A325A|CLSTN1_uc010oag.1_Silent_p.A335A	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	calsyntenin 1 isoform 1	335	Extracellular (Potential).				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			skin(1)	1	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCAGCTCGGCAGTGCCCG	0.647000												
MTOR	2475	broad.mit.edu	37	1	11303205	11303205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:11303205G>A	uc001asd.2	-	9	1499	c.1378C>T	c.(1378-1380)CGA>TGA	p.R460*		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	460					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29						AGGGCCGCTCGGATGATGTCC	0.537000												
SPEN	23013	broad.mit.edu	37	1	16258616	16258616	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:16258616G>A	uc001axk.1	+	11	6085	c.5881G>A	c.(5881-5883)GAT>AAT	p.D1961N	SPEN_uc010obp.1_Missense_Mutation_p.D1920N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1961					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCGGCGAGCCGATGAAGAGGA	0.607000												
ZBTB17	7709	broad.mit.edu	37	1	16272679	16272679	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:16272679G>A	uc001axl.3	-	5	744	c.505C>T	c.(505-507)CGC>TGC	p.R169C	ZBTB17_uc010obq.1_Missense_Mutation_p.R86C|ZBTB17_uc010obr.1_Missense_Mutation_p.R169C|ZBTB17_uc010obs.1_Missense_Mutation_p.R93C|ZBTB17_uc010obt.1_Missense_Mutation_p.R106C|ZBTB17_uc010obu.1_Missense_Mutation_p.R93C|ZBTB17_uc009vom.1_Missense_Mutation_p.R112C|ZBTB17_uc010obv.1_Missense_Mutation_p.R169C	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	169					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGACCGCCGCGCTCCTCCTTG	0.672000												
DDOST	1650	broad.mit.edu	37	1	20987823	20987823	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:20987823G>A	uc001bdo.1	-	1	215	c.72C>T	c.(70-72)GCC>GCT	p.A24A	DDOST_uc009vpw.1_Silent_p.A24A|DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Silent_p.A24A	NM_005216	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide-protein	24					innate immune response|post-translational protein modification|response to cytokine stimulus|T cell activation	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding				0		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCAAGCCCGGGCCGCGGTGC	0.667000											OREG0013196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
HSPG2	3339	broad.mit.edu	37	1	22170713	22170713	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:22170713G>A	uc001bfj.2	-	65	8584	c.8544C>T	c.(8542-8544)TGC>TGT	p.C2848C	HSPG2_uc009vqd.2_Silent_p.C2849C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2848	Ig-like C2-type 14.				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)	CGGGCACCACGCACTTCAGAT	0.672000												
ARID1A	8289	broad.mit.edu	37	1	27106973	27106973	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:27106973T>C	uc001bmv.1	+	20	6957	c.6584T>C	c.(6583-6585)CTC>CCC	p.L2195P	ARID1A_uc001bmu.1_Missense_Mutation_p.L1978P|ARID1A_uc001bmx.1_Missense_Mutation_p.L1041P|ARID1A_uc009vsm.1_Missense_Mutation_p.L523P|ARID1A_uc009vsn.1_Missense_Mutation_p.L437P	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	2195					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATCGGCAACCTCCTGGGCTTC	0.622000			Mis|N|F|S|D		clear cell ovarian carcinoma|RCC							
SLC9A1	6548	broad.mit.edu	37	1	27429016	27429016	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:27429016C>G	uc001bnm.2	-	8	2306	c.1680G>C	c.(1678-1680)AAG>AAC	p.K560N	SLC9A1_uc001bnl.2_Missense_Mutation_p.K64N|SLC9A1_uc010ofk.1_Missense_Mutation_p.K221N	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	560	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CTATCAGACACTTCTTCACAT	0.587000											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LAPTM5	7805	broad.mit.edu	37	1	31208028	31208028	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:31208028G>T	uc001bsc.2	-	7	782	c.691C>A	c.(691-693)CTC>ATC	p.L231I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	231					transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTTCTGGAGCATCTTGGAG	0.338000												
COL16A1	1307	broad.mit.edu	37	1	32119209	32119209	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:32119209C>T	uc001btk.1	-	70	4968	c.4603G>A	c.(4603-4605)GGC>AGC	p.G1535S	COL16A1_uc001bti.1_Missense_Mutation_p.G149S|COL16A1_uc001btj.1_Missense_Mutation_p.G1333S	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1535	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTGGGGGGCCGGGAAGACCA	0.458000												
MACF1	23499	broad.mit.edu	37	1	39927669	39927669	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:39927669C>T	uc010oiu.1	+	58	17098	c.16967C>T	c.(16966-16968)GCG>GTG	p.A5656V	MACF1_uc010ois.1_Missense_Mutation_p.A5154V|MACF1_uc001cde.1_Missense_Mutation_p.A31V|MACF1_uc001cdf.1_Missense_Mutation_p.A31V	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7112	EF-hand 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACAAGGATGCGTATCGACCA	0.398000												
MFSD2A	84879	broad.mit.edu	37	1	40433330	40433330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:40433330C>T	uc001cev.2	+	10	1262	c.1081C>T	c.(1081-1083)CAG>TAG	p.Q361*	MFSD2A_uc010ojb.1_Nonsense_Mutation_p.Q309*|MFSD2A_uc001ceu.2_Nonsense_Mutation_p.Q348*|MFSD2A_uc010ojc.1_Nonsense_Mutation_p.Q192*|MFSD2A_uc009vvy.2_Intron|MFSD2A_uc001cex.2_Nonsense_Mutation_p.Q12*	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing	361	Helical; (Potential).				transmembrane transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)|pancreas(1)	2						TCCCATCTGGCAGTGGTTCTT	0.542000												
TMEM125	128218	broad.mit.edu	37	1	43738892	43738892	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43738892C>T	uc001cir.2	+	4	1069	c.499C>T	c.(499-501)CTG>TTG	p.L167L	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.L167L	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	167	Helical; (Potential).					integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCCTGCTGCTGTATCAAGT	0.662000												
KIAA0467	23334	broad.mit.edu	37	1	43885552	43885552	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43885552C>T	uc009vws.1	+	8	1111	c.1027C>T	c.(1027-1029)CGG>TGG	p.R343W				Q5T011	SZT2_HUMAN	Homo sapiens mRNA for KIAA0467 protein, partial cds.	343						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGTCTACCACCGGGCATTTCT	0.542000												
KIAA0467	23334	broad.mit.edu	37	1	43895376	43895376	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43895376T>C	uc001cjk.1	+	14	1934	c.1472T>C	c.(1471-1473)ATA>ACA	p.I491T		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	1390						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATTCAGCATAGAGACCGAG	0.537000												
KIAA0467	23334	broad.mit.edu	37	1	43916076	43916076	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:43916076A>G	uc001cjk.1	+	57	7989	c.7527A>G	c.(7525-7527)CAA>CAG	p.Q2509Q	KIAA0467_uc001cjl.1_Silent_p.Q497Q	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3408						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCTGCCCAACTGGTCTCCA	0.602000												
LRRC41	10489	broad.mit.edu	37	1	46768845	46768845	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:46768845G>A	uc001cpn.2	-	1	194	c.150C>T	c.(148-150)TGC>TGT	p.C50C	LRRC41_uc010omb.1_Silent_p.C50C|LRRC41_uc001cpo.1_Silent_p.C50C|UQCRH_uc001cpp.2_5'Flank|UQCRH_uc001cpq.2_5'Flank	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	50	Interaction with Elongin BC complex (By similarity).									ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCGCCCGCCCGCACAGCTCGA	0.672000												
NRD1	4898	broad.mit.edu	37	1	52257768	52257768	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:52257768C>T	uc001ctc.3	-	28	3352	c.3030G>A	c.(3028-3030)ATG>ATA	p.M1010I	NRD1_uc009vzb.2_Missense_Mutation_p.M705I|NRD1_uc001ctd.3_Missense_Mutation_p.M942I|NRD1_uc001cte.2_Missense_Mutation_p.M878I|NRD1_uc001ctf.2_Missense_Mutation_p.M942I	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	941					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						CTTCCATGTGCATCTGTAATT	0.512000												
BSND	7809	broad.mit.edu	37	1	55472890	55472890	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:55472890C>A	uc001cye.2	+	3	736	c.493C>A	c.(493-495)CAC>AAC	p.H165N		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	barttin	165	Cytoplasmic (Potential).					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				ovary(1)|skin(1)	2						CGTGGTCATCCACAAGGGCTC	0.632000												
ATG4C	84938	broad.mit.edu	37	1	63299738	63299738	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:63299738T>C	uc001dat.2	+	8	1125	c.963T>C	c.(961-963)GGT>GGC	p.G321G	ATG4C_uc001dau.2_Silent_p.G321G	NM_178221	NP_835739	Q96DT6	ATG4C_HUMAN	APG4 autophagy 4 homolog C isoform 8	321					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity			ovary(1)	1						ATTGTGTGGGTATTATTGGTG	0.299000												
CACHD1	57685	broad.mit.edu	37	1	65107593	65107593	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:65107593A>G	uc001dbo.1	+	8	1049	c.944A>G	c.(943-945)AAT>AGT	p.N315S	CACHD1_uc001dbp.1_Missense_Mutation_p.N70S|CACHD1_uc001dbq.1_Missense_Mutation_p.N70S	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	366	Extracellular (Potential).|VWFA.				calcium ion transport	integral to membrane				ovary(2)	2						CAAGTCATCAATGAAGAAAAT	0.378000												
SGIP1	84251	broad.mit.edu	37	1	67147853	67147853	+	Silent	SNP	G	G	A	rs139355833		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:67147853G>A	uc001dcr.2	+	15	1333	c.1116G>A	c.(1114-1116)TCG>TCA	p.S372S	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Silent_p.S139S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	372	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						ATGTACTATCGCCGCTCAATT	0.542000												
IL12RB2	3595	broad.mit.edu	37	1	67838168	67838168	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:67838168A>G	uc001ddu.2	+	11	2149	c.1509A>G	c.(1507-1509)TCA>TCG	p.S503S	IL12RB2_uc010oqi.1_Silent_p.S503S|IL12RB2_uc010oqj.1_Silent_p.S503S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Intron|IL12RB2_uc010oqm.1_Silent_p.S503S|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	503	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						ATGCACTCTCAGGGGATCAAG	0.428000												
LRRC7	57554	broad.mit.edu	37	1	70501850	70501850	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:70501850A>G	uc001dep.2	+	17	1958	c.1928A>G	c.(1927-1929)CAC>CGC	p.H643R	LRRC7_uc009wbg.2_Intron|LRRC7_uc001deq.2_5'Flank	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	643						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GGGGAACTTCACCCTTCATTA	0.393000												
ZRANB2	9406	broad.mit.edu	37	1	71534974	71534974	+	Missense_Mutation	SNP	C	C	T	rs144217678		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:71534974C>T	uc001dft.2	-	8	822	c.755G>A	c.(754-756)CGT>CAT	p.R252H	ZRANB2_uc001dfs.2_Missense_Mutation_p.R252H|uc010oqr.1_5'Flank|MIR186_hsa-mir-186|MI0000483_5'Flank	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	zinc finger protein 265 isoform 1	252	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TTTCGACCCACGAGATCTCGA	0.423000												
AK5	26289	broad.mit.edu	37	1	77883388	77883388	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:77883388T>C	uc001dhn.2	+	8	1304	c.1047T>C	c.(1045-1047)GAT>GAC	p.D349D	AK5_uc001dho.2_Silent_p.D323D	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	349					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1						CAGGATCTGATTATGAAGATC	0.299000												
WDR63	126820	broad.mit.edu	37	1	85551643	85551643	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:85551643A>G	uc001dkt.2	+	7	861	c.670A>G	c.(670-672)AAA>GAA	p.K224E	WDR63_uc009wcl.2_Missense_Mutation_p.K224E	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	224										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTACCCTTAAACAACTTGA	0.358000												
GBP6	163351	broad.mit.edu	37	1	89849839	89849839	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:89849839G>A	uc001dnf.2	+	10	1930	c.1656G>A	c.(1654-1656)ACG>ACA	p.T552T	GBP6_uc010ost.1_Silent_p.T422T	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	552							GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGGAGCACACGCAGAAGGTAA	0.512000												
LRRC8D	55144	broad.mit.edu	37	1	90399383	90399383	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:90399383A>G	uc001dnm.2	+	3	1181	c.756A>G	c.(754-756)CCA>CCG	p.P252P	LRRC8D_uc001dnn.2_Silent_p.P252P	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	252						integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCAGTACACCAATGATCAATA	0.453000												
KIAA1324	57535	broad.mit.edu	37	1	109735346	109735346	+	Silent	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:109735346C>A	uc001dwq.2	+	15	1933	c.1797C>A	c.(1795-1797)GGC>GGA	p.G599G	KIAA1324_uc009wex.1_Silent_p.G549G|KIAA1324_uc009wey.2_Silent_p.G512G|KIAA1324_uc010ovg.1_Silent_p.G497G|KIAA1324_uc001dwr.2_Silent_p.G249G	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	hypothetical protein LOC57535 precursor	599	Extracellular (Potential).				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGATGTGGGCTCCTCCTGCA	0.522000												
CHIA	27159	broad.mit.edu	37	1	111862019	111862019	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:111862019G>A	uc001eas.2	+	11	1209	c.1106G>A	c.(1105-1107)GGC>GAC	p.G369D	CHIA_uc001ear.2_Missense_Mutation_p.G261D|CHIA_uc001eaq.2_Missense_Mutation_p.G261D|CHIA_uc009wgc.2_Missense_Mutation_p.G261D|CHIA_uc001eat.2_Missense_Mutation_p.G208D|CHIA_uc001eav.2_Missense_Mutation_p.G208D|CHIA_uc001eau.2_Missense_Mutation_p.G208D|CHIA_uc009wgd.2_Missense_Mutation_p.G208D	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN	acidic chitinase isoform c	369					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			ovary(1)	1		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GACTTCACTGGCACTTTCTGC	0.512000												
RSBN1	54665	broad.mit.edu	37	1	114354357	114354357	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:114354357C>T	uc001edq.2	-	1	714	c.678G>A	c.(676-678)GTG>GTA	p.V226V	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	226						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCAGAGGCACCCCTCCAG	0.582000												
VANGL1	81839	broad.mit.edu	37	1	116226580	116226580	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:116226580C>T	uc001efv.1	+	6	1233	c.962C>T	c.(961-963)GCC>GTC	p.A321V	VANGL1_uc009wgy.1_Missense_Mutation_p.A319V	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	321	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGTAACAATGCCACTGGCCAG	0.522000												
ADAM30	11085	broad.mit.edu	37	1	120438726	120438726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:120438726C>T	uc001eij.2	-	1	388	c.234G>A	c.(232-234)TGG>TGA	p.W78*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30 preproprotein	78					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GTCTCTTGGGCCACAAATGGA	0.532000												
RBM8A	9939	broad.mit.edu	37	1	145509207	145509207	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:145509207G>A	uc001ent.1	+	6	550	c.521G>A	c.(520-522)CGC>CAC	p.R174H	NBPF10_uc001emp.3_Intron|RBM8A_uc001enu.1_Missense_Mutation_p.R173H|RBM8A_uc001enw.1_5'Flank	NM_005105	NP_005096	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	174					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding				0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGAGACGTCGCTGACAGGTC	0.493000												
LCE2B	26239	broad.mit.edu	37	1	152659551	152659551	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:152659551C>T	uc001fai.2	+	2	286	c.232C>T	c.(232-234)CCC>TCC	p.P78S		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	78	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACAGGCCCCGTCTCTT	0.677000												
LCE2B	26239	broad.mit.edu	37	1	152659570	152659570	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:152659570G>A	uc001fai.2	+	2	305	c.251G>A	c.(250-252)CGC>CAC	p.R84H		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	84	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCACCGGCGCCGGCACCAG	0.667000												
IL6R	3570	broad.mit.edu	37	1	154408561	154408561	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:154408561G>A	uc001fez.1	+	6	1361	c.924G>A	c.(922-924)CCG>CCA	p.P308P	IL6R_uc001ffa.1_Silent_p.P308P	NM_000565	NP_000556	P08887	IL6RA_HUMAN	interleukin 6 receptor isoform 1 precursor	308	Fibronectin type-III.|Extracellular (Potential).				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity			ovary(3)|breast(1)	4	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGGAGCCCGGAGGCCATGG	0.532000												
SMG5	23381	broad.mit.edu	37	1	156235910	156235910	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:156235910G>A	uc001foc.3	-	12	1666	c.1517C>T	c.(1516-1518)ACG>ATG	p.T506M	SMG5_uc009wrv.2_Translation_Start_Site	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	506					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					ATCAAAGGCCGTTCCCCCACC	0.552000												
OR6Y1	391112	broad.mit.edu	37	1	158517185	158517185	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:158517185C>A	uc010pil.1	-	1	711	c.711G>T	c.(709-711)CAG>CAT	p.Q237H		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TTTGGCGGCCCTGAGCAGAAG	0.517000												
FCGR2B	2213	broad.mit.edu	37	1	161641299	161641299	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:161641299G>T	uc001gaz.1	+	3	343	c.251G>T	c.(250-252)TGG>TTG	p.W84L	FCGR2B_uc009wum.1_Missense_Mutation_p.W84L|FCGR2B_uc001gay.1_Missense_Mutation_p.W83L|FCGR2B_uc001gba.1_Missense_Mutation_p.W83L|FCGR2B_uc001gbb.1_Missense_Mutation_p.W84L|FCGR2B_uc009wun.1_Missense_Mutation_p.W77L	NM_004001	NP_003992	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor	84	Ig-like C2-type 1.|Extracellular (Potential).				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity				0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCATTCAGTGGTTCCACAAT	0.582000			T	?	ALL							
FMO1	2326	broad.mit.edu	37	1	171251310	171251310	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:171251310T>C	uc009wvz.2	+	7	1157	c.1021T>C	c.(1021-1023)TCT>CCT	p.S341P	FMO1_uc010pme.1_Missense_Mutation_p.S278P|FMO1_uc001ghl.2_Missense_Mutation_p.S341P|FMO1_uc001ghm.2_Missense_Mutation_p.S341P|FMO1_uc001ghn.2_Missense_Mutation_p.S341P	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	341					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTTGATGAGTCTGTAGTGAA	0.433000												
MYOC	4653	broad.mit.edu	37	1	171605749	171605749	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:171605749G>A	uc001ghu.2	-	3	853	c.831C>T	c.(829-831)ACC>ACT	p.T277T	MYOC_uc010pmk.1_Silent_p.T219T	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	277	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTAGGGGTAGGTGGGCTTGG	0.532000												
GPR52	9293	broad.mit.edu	37	1	174417890	174417890	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:174417890C>A	uc001gka.1	+	1	679	c.641C>A	c.(640-642)CCT>CAT	p.P214H	RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	214	Helical; Name=5; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			skin(1)	1						CTTTATGCTCCTGCTGCCTTT	0.438000												
LAMC1	3915	broad.mit.edu	37	1	183097844	183097844	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:183097844G>T	uc001gpy.3	+	18	3496	c.3239G>T	c.(3238-3240)AGG>ATG	p.R1080M		NM_002293	NP_002284	P11047	LAMC1_HUMAN	laminin, gamma 1 precursor	1080	Potential.|Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			ovary(3)|large_intestine(1)|kidney(1)	5					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGCAGAGAGGGAAGTTATG	0.478000												
HMCN1	83872	broad.mit.edu	37	1	185969176	185969176	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:185969176G>A	uc001grq.1	+	26	4104	c.3875_splice	c.e26-1	p.G1292_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TTCTTATTTAGGTACCCCTAA	0.313000												
CDC73	79577	broad.mit.edu	37	1	193205394	193205394	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:193205394T>G	uc001gtb.2	+	15	1568	c.1325T>G	c.(1324-1326)GTT>GGT	p.V442G		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	442					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						AGGGACCGCGTTGTAGCCGTT	0.458000									Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			
ASPM	259266	broad.mit.edu	37	1	197069949	197069949	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:197069949T>C	uc001gtu.2	-	18	8689	c.8432A>G	c.(8431-8433)TAT>TGT	p.Y2811C	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Y659C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2811					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TTGAGAATGATACTCTGCTTC	0.398000												
ASPM	259266	broad.mit.edu	37	1	197111558	197111558	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:197111558C>T	uc001gtu.2	-	3	2081	c.1824G>A	c.(1822-1824)GAG>GAA	p.E608E	ASPM_uc001gtv.2_Silent_p.E608E|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	608					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						ATGTTTTAGGCTCTGAGGGAG	0.378000												
IPO9	55705	broad.mit.edu	37	1	201842024	201842024	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:201842024G>A	uc001gwz.2	+	20	2695	c.2645G>A	c.(2644-2646)CGT>CAT	p.R882H		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	882					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CAGGATATCCGTGTGAAGGGA	0.517000												
NFASC	23114	broad.mit.edu	37	1	204945820	204945820	+	Silent	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:204945820C>A	uc001hbj.2	+	16	2056	c.1728C>A	c.(1726-1728)TCC>TCA	p.S576S	NFASC_uc001hbh.2_Silent_p.S576S|NFASC_uc010pqz.1_Silent_p.S570S|NFASC_uc010pra.1_Silent_p.S587S|NFASC_uc001hbi.2_Silent_p.S587S|NFASC_uc010prb.1_Silent_p.S587S|NFASC_uc010prc.1_Silent_p.S143S|NFASC_uc001hbk.1_Silent_p.S397S	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	576	Extracellular (Potential).|Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGACGACTCCCTGACCATCT	0.607000												
RAB7L1	8934	broad.mit.edu	37	1	205744039	205744039	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:205744039C>T	uc001hdf.3	-	2	386	c.46G>A	c.(46-48)GCC>ACC	p.A16T	RAB7L1_uc009xbp.2_Intron|RAB7L1_uc001hde.3_Missense_Mutation_p.A16T|RAB7L1_uc010prr.1_Missense_Mutation_p.A16T|RAB7L1_uc009xbq.2_RNA	NM_003929	NP_003920	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1 isoform	16	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			ovary(1)	1	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCACTGCGGCGTCCCCCACC	0.622000												
RPS6KC1	26750	broad.mit.edu	37	1	213445891	213445891	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:213445891C>T	uc010ptr.1	+	15	3274	c.3115C>T	c.(3115-3117)CGA>TGA	p.R1039*	RPS6KC1_uc001hkd.2_Nonsense_Mutation_p.R1027*|RPS6KC1_uc010pts.1_Nonsense_Mutation_p.R827*|RPS6KC1_uc010ptt.1_Nonsense_Mutation_p.R827*|RPS6KC1_uc010ptu.1_Nonsense_Mutation_p.R858*|RPS6KC1_uc010ptv.1_Nonsense_Mutation_p.R574*|RPS6KC1_uc001hke.2_Nonsense_Mutation_p.R858*	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide	1039	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCCTCTGGAACGACTTGGTGC	0.413000												
DISP1	84976	broad.mit.edu	37	1	223177746	223177746	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:223177746A>C	uc001hnu.1	+	8	3154	c.3007A>C	c.(3007-3009)ACT>CCT	p.T1003P		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1003	Helical; (Potential).				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		GCTGCTGACAACTTGGAACAT	0.483000												
TRIM17	51127	broad.mit.edu	37	1	228598740	228598740	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:228598740G>A	uc001hsu.2	-	4	1048	c.663C>T	c.(661-663)AGC>AGT	p.S221S	TRIM17_uc001hsv.2_Silent_p.S221S|TRIM17_uc001hsw.2_Silent_p.S194S|TRIM17_uc009xfb.2_Silent_p.S221S	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	tripartite motif-containing 17 isoform 1	221	Potential.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Prostate(94;0.0724)				GGCAGGCCACGCTCTCCCGGA	0.632000												
ARV1	64801	broad.mit.edu	37	1	231126011	231126011	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:231126011T>C	uc009xfl.1	+	3	477	c.448_splice	c.e3+2	p.E150_splice	ARV1_uc001huh.2_Splice_Site_p.E150_splice	NM_022786	NP_073623	Q9H2C2	ARV1_HUMAN	ARV1 homolog						sphingolipid metabolic process	integral to membrane				breast(2)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CTGCTTTAGGTAAGGAGATGC	0.378000												
SIPA1L2	57568	broad.mit.edu	37	1	232561478	232561478	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:232561478C>A	uc001hvg.2	-	16	4645	c.4487G>T	c.(4486-4488)AGG>ATG	p.R1496M	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R570M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1496					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGACCCCCTCCTGTTGCTGCA	0.577000												
ACTN2	88	broad.mit.edu	37	1	236917337	236917337	+	Missense_Mutation	SNP	G	G	A	rs146164600	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:236917337G>A	uc001hyf.2	+	16	2134	c.1930G>A	c.(1930-1932)GCC>ACC	p.A644T	ACTN2_uc001hyg.2_Missense_Mutation_p.A436T|ACTN2_uc009xgi.1_Missense_Mutation_p.A644T|ACTN2_uc010pxu.1_Missense_Mutation_p.A333T|ACTN2_uc001hyh.2_Missense_Mutation_p.A332T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	644	Spectrin 4.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCAGTTTGCTGCCCAAGCCAA	0.602000												
KMO	8564	broad.mit.edu	37	1	241725514	241725514	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:241725514G>A	uc009xgp.2	+	7	562	c.497G>A	c.(496-498)TGT>TAT	p.C166Y	KMO_uc001hyy.2_Missense_Mutation_p.C166Y|KMO_uc009xgo.1_Missense_Mutation_p.C166Y	NM_003679	NP_003670	O15229	KMO_HUMAN	kynurenine 3-monooxygenase	166					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			ovary(2)	2	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATTGTAGGATGTGATGGAGCC	0.388000												
OR2AK2	391191	broad.mit.edu	37	1	248129247	248129247	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:248129247A>C	uc010pzd.1	+	1	614	c.614A>C	c.(613-615)CAG>CCG	p.Q205P	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	205	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGGTGTGTCAGGACACCTCC	0.428000												
CELF2	10659	broad.mit.edu	37	10	11207585	11207585	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:11207585G>A	uc001iki.3	+	2	282	c.190G>A	c.(190-192)GGA>AGA	p.G64R	CELF2_uc010qbi.1_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.G64R|CELF2_uc001ikk.2_Missense_Mutation_p.G71R|CELF2_uc001ikl.3_Missense_Mutation_p.G71R|CELF2_uc010qbk.1_RNA|CELF2_uc010qbl.1_Missense_Mutation_p.G40R|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.3_Missense_Mutation_p.G40R|CELF2_uc001ikp.3_Missense_Mutation_p.G40R|CELF2_uc010qbn.1_Missense_Mutation_p.G48R|CELF2_uc009xiw.1_Missense_Mutation_p.G40R|CELF2_uc010qbo.1_5'UTR|CELF2_uc010qbp.1_5'UTR	NM_001025077	NP_001020248	O95319	CELF2_HUMAN	CUG triplet repeat, RNA binding protein 2	64	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding				0						TGAGCCTTACGGAGCCGTCTA	0.582000												
FAM107B	83641	broad.mit.edu	37	10	14816403	14816403	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:14816403C>T	uc001ina.1	-	1	494	c.260G>A	c.(259-261)GGC>GAC	p.G87D	FAM107B_uc010qbu.1_RNA	NM_031453	NP_113641	Q9H098	F107B_HUMAN	hypothetical protein LOC83641	Error:Variant_position_missing_in_Q9H098_after_alignment										breast(4)	4						ATTCGCACTGCCATTTCTCTC	0.602000												
FXYD4	53828	broad.mit.edu	37	10	43869133	43869133	+	Translation_Start_Site	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:43869133G>A	uc001jaq.1	+	3	271	c.-61G>A	c.(-63--59)CCGTG>CCATG			NM_173160	NP_775183	P59646	FXYD4_HUMAN	FXYD domain containing ion transport regulator 4							integral to membrane					0						GAGCAGATCCGTGGGCTGCAG	0.642000												
EGR2	1959	broad.mit.edu	37	10	64573203	64573203	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:64573203C>T	uc010qim.1	-	3	1349	c.1195G>A	c.(1195-1197)GCC>ACC	p.A399T	EGR2_uc010qin.1_Missense_Mutation_p.A349T|EGR2_uc001jmi.2_Missense_Mutation_p.A399T|EGR2_uc010qio.1_Missense_Mutation_p.A412T|EGR2_uc009xph.2_Missense_Mutation_p.A399T	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	399	C2H2-type 3.				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGTCACAGGCGAAGGGCTTC	0.587000												
KIAA1274	27143	broad.mit.edu	37	10	72297653	72297653	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:72297653T>C	uc001jrd.3	+	11	1595	c.1314T>C	c.(1312-1314)CTT>CTC	p.L438L	KIAA1274_uc001jre.3_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	438										ovary(2)|central_nervous_system(1)	3						ACTACTACCTTCATGAGCAGG	0.632000												
GRID1	2894	broad.mit.edu	37	10	87966288	87966288	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:87966288C>T	uc001kdl.1	-	3	454	c.353G>A	c.(352-354)CGC>CAC	p.R118H	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	118	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	TCCCGGGTTGCGCTGGACAAA	0.627000										Multiple Myeloma(13;0.14)		
PAPSS2	9060	broad.mit.edu	37	10	89487102	89487102	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:89487102G>A	uc001kex.2	+	8	1190	c.927G>A	c.(925-927)CGG>CGA	p.R309R	PAPSS2_uc001kew.2_Silent_p.R314R|PAPSS2_uc009xtg.1_RNA	NM_004670	NP_004661	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	309	Adenylyl-sulfate kinase.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|skin(1)	2		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ATAAGACACGGCTGGAAGGGT	0.493000												
KIF20B	9585	broad.mit.edu	37	10	91503648	91503648	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:91503648A>T	uc001kgs.1	+	22	4071	c.3999A>T	c.(3997-3999)GAA>GAT	p.E1333D	KIF20B_uc001kgr.1_Missense_Mutation_p.E1293D|KIF20B_uc001kgt.1_Missense_Mutation_p.E544D|KIF20B_uc009xtw.1_RNA	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	1333					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						GTTCTCAGGAATTAGATATGA	0.299000												
PAX2	5076	broad.mit.edu	37	10	102587338	102587338	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:102587338G>A	uc001krk.3	+	12	1744	c.1194G>A	c.(1192-1194)CCG>CCA	p.P398P	PAX2_uc001krl.3_3'UTR|PAX2_uc001krm.3_Missense_Mutation_p.A405T|PAX2_uc001kro.3_Missense_Mutation_p.A382T|PAX2_uc001krn.3_Silent_p.P375P|PAX2_uc010qps.1_Missense_Mutation_p.A382T	NM_003990	NP_003981	Q02962	PAX2_HUMAN	paired box protein 2 isoform e	Error:Variant_position_missing_in_Q02962_after_alignment					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity				0		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCGGGGCTCCGCCCCTGCCGC	0.592000												
BTRC	8945	broad.mit.edu	37	10	103190192	103190192	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:103190192G>A	uc001kta.2	+	2	252	c.139G>A	c.(139-141)GCA>ACA	p.A47T	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.2_Intron|BTRC_uc001ktc.2_Missense_Mutation_p.A47T	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing protein	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGGGACTGGCGCACTCACAGC	0.537000												
TRIM8	81603	broad.mit.edu	37	10	104414459	104414459	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:104414459T>C	uc001kvz.2	+	2	743	c.620T>C	c.(619-621)ATT>ACT	p.I207T		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	207	Potential.					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAGCAGGACATTGAGGACCAG	0.602000												
XPNPEP1	7511	broad.mit.edu	37	10	111667488	111667488	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:111667488C>T	uc001kyp.1	-	3	218	c.78G>A	c.(76-78)CCG>CCA	p.P26P	XPNPEP1_uc009xxt.1_Silent_p.P69P|XPNPEP1_uc001kyq.1_5'UTR|XPNPEP1_uc010qrb.1_Silent_p.P69P	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1,	26					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			ovary(3)|pancreas(1)	4		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AGGCCTGGATCGGTTCGGTCA	0.522000												
TECTB	6975	broad.mit.edu	37	10	114046093	114046093	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:114046093G>A	uc001kzr.1	+	4	427	c.427G>A	c.(427-429)GTG>ATG	p.V143M		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	tectorin beta precursor	143	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix					0		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CACTGTTCACGTGAAGAACGG	0.502000												
ACSL5	51703	broad.mit.edu	37	10	114181725	114181725	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:114181725G>A	uc001kzs.2	+	16	1549	c.1408G>A	c.(1408-1410)GCT>ACT	p.A470T	ACSL5_uc001kzt.2_Missense_Mutation_p.A470T|ACSL5_uc001kzu.2_Missense_Mutation_p.A526T|ACSL5_uc009xxz.2_Missense_Mutation_p.A470T|ACSL5_uc010qrj.1_Missense_Mutation_p.A252T	NM_203379	NP_976313	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	470	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(2)|skin(1)	3		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGTGCCCCTGGCTTGCAATTA	0.453000												
FAM160B1	57700	broad.mit.edu	37	10	116595908	116595908	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:116595908T>C	uc001lcb.2	+	5	760	c.425T>C	c.(424-426)GTC>GCC	p.V142A	FAM160B1_uc001lcc.2_Missense_Mutation_p.V142A	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	hypothetical protein LOC57700 isoform a	142										lung(1)	1						TGTGGTGAAGTCCTAGCAACA	0.338000												
VAX1	11023	broad.mit.edu	37	10	118896070	118896070	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:118896070C>T	uc009xyx.2	-	2	587	c.342G>A	c.(340-342)CGG>CGA	p.R114R	VAX1_uc001ldb.1_Silent_p.R114R	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1 isoform a	114	Homeobox.					nucleus	sequence-specific DNA binding			ovary(2)	2				all cancers(201;0.0108)		CCATCTCCAGCCGATAGAGCT	0.657000												
MKI67	4288	broad.mit.edu	37	10	129901088	129901088	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:129901088C>T	uc001lke.2	-	13	9211	c.9016G>A	c.(9016-9018)GTC>ATC	p.V3006I	MKI67_uc001lkf.2_Missense_Mutation_p.V2646I|MKI67_uc009yav.1_Missense_Mutation_p.V2581I|MKI67_uc009yaw.1_Missense_Mutation_p.V2156I	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	3006					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTCCCGTGACGCTTCCATCT	0.572000												
EBF3	253738	broad.mit.edu	37	10	131639224	131639224	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:131639224T>C	uc001lki.1	-	14	1477	c.1418A>G	c.(1417-1419)AAT>AGT	p.N473S		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	482	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGTGTTGTAATTGGACTGCTG	0.572000												
ADAM8	101	broad.mit.edu	37	10	135084401	135084401	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:135084401C>A	uc010qva.1	-	13	1482	c.1431G>T	c.(1429-1431)CAG>CAT	p.Q477H	ADAM8_uc010quz.1_Missense_Mutation_p.Q516H|ADAM8_uc009ybi.2_Missense_Mutation_p.Q516H			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	477					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CCCAGAAGGCCTGGCACTGCT	0.687000												
NLRP6	171389	broad.mit.edu	37	11	280967	280967	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:280967G>A	uc010qvs.1	+	4	1233	c.1233G>A	c.(1231-1233)ACG>ACA	p.T411T	NLRP6_uc010qvt.1_Silent_p.T411T	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	411	NACHT.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTCGCGCACGTCCAAGACCA	0.652000												
OR51B5	282763	broad.mit.edu	37	11	5364645	5364645	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:5364645A>G	uc001map.1	-	1	110	c.110T>C	c.(109-111)CTT>CCT	p.L37P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.L37P	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	37	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCAAAAAGGATGGATAT	0.478000												
OR56A3	390083	broad.mit.edu	37	11	5968969	5968969	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:5968969C>T	uc010qzt.1	+	1	393	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	131	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCCATCTGCCACCCACTGA	0.458000												
OR56B4	196335	broad.mit.edu	37	11	6129639	6129639	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:6129639G>T	uc010qzx.1	+	1	631	c.631G>T	c.(631-633)GTC>TTC	p.V211F		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	211	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTAGCATGGGTCTTGGTTGG	0.468000												
OR52B2	255725	broad.mit.edu	37	11	6190659	6190659	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:6190659G>T	uc010qzy.1	-	1	898	c.898C>A	c.(898-900)CAG>AAG	p.Q300K		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACGTATCTGCTTAGTCTTC	0.493000												
DCHS1	8642	broad.mit.edu	37	11	6647176	6647176	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:6647176C>A	uc001mem.1	-	17	7116	c.6706G>T	c.(6706-6708)GAC>TAC	p.D2236Y		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2236	Extracellular (Potential).|Cadherin 21.				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)		ATCTCACGGTCCAGGATGGCT	0.577000												
AMPD3	272	broad.mit.edu	37	11	10523119	10523119	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:10523119C>T	uc001mio.1	+	12	2159	c.1824C>T	c.(1822-1824)CAC>CAT	p.H608H	AMPD3_uc010rbz.1_Silent_p.H449H|AMPD3_uc001min.1_Silent_p.H617H|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.H615H|AMPD3_uc009yfy.2_Silent_p.H608H	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	608		Proton acceptor (By similarity).			AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACATTTCCCACGGGCTGCTCC	0.637000												
SPON1	10418	broad.mit.edu	37	11	13984526	13984526	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:13984526G>A	uc001mle.2	+	1	613	c.75G>A	c.(73-75)GCG>GCA	p.A25A		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	25					cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CCCTGGCCGCGGCGCTGGCCT	0.711000												
KCNC1	3746	broad.mit.edu	37	11	17793218	17793218	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:17793218G>A	uc001mnk.3	+	2	632	c.577G>A	c.(577-579)GCC>ACC	p.A193T	KCNC1_uc009yhc.1_Missense_Mutation_p.A193T	NM_004976	NP_004967	P48547	KCNC1_HUMAN	Shaw-related voltage-gated potassium channel	193	Helical; Name=Segment S1; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)	1						ACAGTATGTGGCCTTCGCTTC	0.597000												
CRY2	1408	broad.mit.edu	37	11	45877621	45877621	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:45877621G>A	uc010rgn.1	+	2	389	c.367G>A	c.(367-369)GTG>ATG	p.V123M	CRY2_uc009ykw.2_Missense_Mutation_p.V41M	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	102	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						GCCAGCCGACGTGTTCCCAAG	0.522000												
GYLTL1B	120071	broad.mit.edu	37	11	45949132	45949132	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:45949132A>G	uc001nbv.1	+	11	1703	c.1592A>G	c.(1591-1593)TAC>TGC	p.Y531C	GYLTL1B_uc001nbw.1_Missense_Mutation_p.Y500C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.Y531C|GYLTL1B_uc001nby.1_Missense_Mutation_p.Y214C|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	531	Lumenal (Potential).				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.226)		TATTCTCTCTACGACTACCTC	0.602000												
MADD	8567	broad.mit.edu	37	11	47296226	47296226	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:47296226G>A	uc001ner.1	+	3	366	c.175G>A	c.(175-177)GAG>AAG	p.E59K	MADD_uc001neq.2_Missense_Mutation_p.E59K|MADD_uc001nev.1_Missense_Mutation_p.E59K|MADD_uc001nes.1_Missense_Mutation_p.E59K|MADD_uc001net.1_Missense_Mutation_p.E59K|MADD_uc009yln.1_Missense_Mutation_p.E59K|MADD_uc001neu.1_Missense_Mutation_p.E59K|MADD_uc001nex.2_Missense_Mutation_p.E59K|MADD_uc001nez.2_Missense_Mutation_p.E59K|MADD_uc001new.2_Missense_Mutation_p.E59K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	59	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CTGCCAGCCCGAGGGCTGCCT	0.582000												
OR8I2	120586	broad.mit.edu	37	11	55861386	55861386	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:55861386A>G	uc010rix.1	+	1	603	c.603A>G	c.(601-603)TTA>TTG	p.L201L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	201	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GCTTTGTCTTAGCTGGATTCA	0.443000												
OR5M9	390162	broad.mit.edu	37	11	56230421	56230421	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:56230421C>A	uc010rjj.1	-	1	457	c.457G>T	c.(457-459)GTC>TTC	p.V153F		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ATTAGGCTGACAGAGAATCCA	0.453000												
SERPING1	710	broad.mit.edu	37	11	57367850	57367850	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:57367850G>A	uc001nkp.1	+	3	741	c.550G>A	c.(550-552)GGG>AGG	p.G184R	SERPING1_uc001nkq.1_Missense_Mutation_p.G184R|SERPING1_uc010rju.1_Missense_Mutation_p.G132R|SERPING1_uc010rjv.1_Missense_Mutation_p.G189R|SERPING1_uc001nkr.1_Missense_Mutation_p.G184R|SERPING1_uc009ymi.1_Missense_Mutation_p.G184R|SERPING1_uc009ymj.1_Missense_Mutation_p.G184R|SERPING1_uc001nks.1_Intron	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	184					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						GGTCCTGCTCGGTAAGACCCT	0.522000									Hereditary_Angioedema			
OR5A2	219981	broad.mit.edu	37	11	59189571	59189571	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:59189571C>T	uc010rkt.1	-	1	856	c.856G>A	c.(856-858)GTG>ATG	p.V286M		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ATGGGATTCACCACGGGGATC	0.473000												
MS4A15	219995	broad.mit.edu	37	11	60540898	60540898	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:60540898G>A	uc009ynf.1	+	5	659	c.439G>A	c.(439-441)GTC>ATC	p.V147I	MS4A15_uc001npx.2_Missense_Mutation_p.V54I|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.V106I	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member	147	Helical; (Potential).					integral to membrane	receptor activity			lung(1)	1						CATCCTCAGCGTCATGGCGGC	0.567000												
GPR44	11251	broad.mit.edu	37	11	60620602	60620602	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:60620602C>T	uc001nqc.2	-	2	706	c.594G>A	c.(592-594)ACG>ACA	p.T198T		NM_004778	NP_004769	Q9Y5Y4	GPR44_HUMAN	G protein-coupled receptor 44	198	Extracellular (Potential).				immune response	integral to plasma membrane	N-formyl peptide receptor activity			ovary(1)	1						GCGAGTTGCACGTGGCATCGC	0.657000												
DAGLA	747	broad.mit.edu	37	11	61511088	61511088	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:61511088G>T	uc001nsa.2	+	20	2367	c.2256G>T	c.(2254-2256)CAG>CAT	p.Q752H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	neural stem cell-derived dendrite regulator	752	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)		CGGCCCGCCAGGACCCGGTGG	0.706000												
AHNAK	79026	broad.mit.edu	37	11	62289177	62289177	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:62289177C>T	uc001ntl.2	-	5	13012	c.12712G>A	c.(12712-12714)GCG>ACG	p.A4238T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	4238					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTTAGTTTCGCATCTGGACCT	0.498000												
ROM1	6094	broad.mit.edu	37	11	62380758	62380758	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:62380758C>T	uc001ntv.2	+	1	546	c.5C>T	c.(4-6)GCG>GTG	p.A2V	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	2	Cytoplasmic (Potential).				cell adhesion|visual perception	integral to plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3						TGGGAGATGGCGCCGGTGTTG	0.677000												
C11orf84	144097	broad.mit.edu	37	11	63594575	63594575	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:63594575T>C	uc001nxt.2	+	6	1346	c.1110T>C	c.(1108-1110)ACT>ACC	p.T370T	C11orf84_uc001nxu.1_RNA	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	370											0						CCAGCACCACTGTGGCAGGGA	0.592000												
PLCB3	5331	broad.mit.edu	37	11	64031188	64031188	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:64031188C>T	uc001nzb.2	+	21	2481	c.2481C>T	c.(2479-2481)AAC>AAT	p.N827N	PLCB3_uc009ypg.1_Silent_p.N827N|PLCB3_uc009yph.1_Silent_p.N760N|PLCB3_uc009ypi.2_Silent_p.N827N	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	827					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2						GCCTGCGGAACGAGGCCAACC	0.667000												
SPTBN2	6712	broad.mit.edu	37	11	66466164	66466164	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:66466164C>A	uc001ojd.2	-	19	4032	c.3960G>T	c.(3958-3960)CAG>CAT	p.Q1320H		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1320	Spectrin 10.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						CCATGAATGCCTGGTGCTTCT	0.597000												
GPR152	390212	broad.mit.edu	37	11	67219919	67219919	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:67219919G>A	uc001olm.2	-	1	282	c.277C>T	c.(277-279)CAT>TAT	p.H93Y	uc009yrw.1_RNA|CABP4_uc001oln.2_5'UTR|CABP4_uc001olo.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	93	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGTCCCCCATGCCGGATCTCT	0.652000												
MRGPRD	116512	broad.mit.edu	37	11	68747599	68747599	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:68747599C>A	uc010rqf.1	-	1	857	c.857G>T	c.(856-858)AGG>ATG	p.R286M		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	286	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(1)	1			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTGGGCAGCCTGTGGCTCCT	0.652000												
SHANK2	22941	broad.mit.edu	37	11	70333046	70333046	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:70333046C>T	uc001oqc.2	-	21	3430	c.3352G>A	c.(3352-3354)GCC>ACC	p.A1118T	SHANK2_uc010rqn.1_Missense_Mutation_p.A530T|SHANK2_uc001opz.2_Missense_Mutation_p.A523T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	739					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)			GTCCTGGGGGCGGGTGGCCCC	0.687000												
P4HA3	283208	broad.mit.edu	37	11	74009285	74009285	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:74009285A>G	uc001ouz.2	-	4	732	c.689T>C	c.(688-690)TTG>TCG	p.L230S	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.L230S	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	230	TPR.					endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					CAAGTGATCCAAGGCATCTTC	0.413000												
PRKRIR	5612	broad.mit.edu	37	11	76062943	76062943	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:76062943T>G	uc001oxh.1	-	5	1251	c.1251A>C	c.(1249-1251)AAA>AAC	p.K417N	PRKRIR_uc010rrz.1_Missense_Mutation_p.K242N	NM_004705	NP_004696	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double	417					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			ovary(2)|pancreas(1)	3						CCTTCAGTTCTTTACCCCTTT	0.378000												
ODZ4	26011	broad.mit.edu	37	11	78433794	78433794	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:78433794T>C	uc001ozl.3	-	24	4182	c.3719A>G	c.(3718-3720)GAC>GGC	p.D1240G		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1240	Extracellular (Potential).|NHL 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GAGGCTCCCGTCAGAGCCACA	0.557000												
GRM5	2915	broad.mit.edu	37	11	88300371	88300371	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:88300371G>T	uc001pcq.2	-	7	2680	c.2480C>A	c.(2479-2481)GCC>GAC	p.A827D	GRM5_uc009yvm.2_Missense_Mutation_p.A827D	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	827	Helical; Name=7; (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCTGGTTTGGCCAGGATGAT	0.562000												
FAT3	120114	broad.mit.edu	37	11	92624149	92624149	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:92624149C>T	uc001pdj.3	+	25	13561	c.13544C>T	c.(13543-13545)TCG>TTG	p.S4515L	FAT3_uc001pdi.3_Missense_Mutation_p.S987L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4547	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCTCATCCTCGGATGTGTCT	0.552000										TCGA Ovarian(4;0.039)		
GPR83	10888	broad.mit.edu	37	11	94113840	94113840	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:94113840G>C	uc001pet.2	-	4	919	c.747C>G	c.(745-747)ATC>ATG	p.I249M		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	249	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGAGGGGCAGGATGTAGAGCA	0.557000												
AMOTL1	154810	broad.mit.edu	37	11	94602566	94602566	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:94602566C>T	uc001pfb.2	+	12	2862	c.2692C>T	c.(2692-2694)CGG>TGG	p.R898W	AMOTL1_uc001pfc.2_Missense_Mutation_p.R848W	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	angiomotin like 1	898						cytoplasm|tight junction	identical protein binding			ovary(1)|breast(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CAGCCGCGGCCGGCTGAGCAC	0.647000												
GRIA4	2893	broad.mit.edu	37	11	105845045	105845045	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:105845045G>A	uc001pix.2	+	16	2864	c.2418G>A	c.(2416-2418)ACG>ACA	p.T806T	GRIA4_uc001piw.2_Silent_p.T806T|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	806	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGGACAAGACGAGTGCCTTGA	0.448000												
BUD13	84811	broad.mit.edu	37	11	116627916	116627916	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:116627916G>T	uc001ppn.2	-	9	1746	c.1712C>A	c.(1711-1713)CCT>CAT	p.P571H	BUD13_uc001ppo.2_Missense_Mutation_p.P437H	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	571										large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GTTGGGAGGAGGTGCTGGACC	0.443000												
SCN4B	6330	broad.mit.edu	37	11	118014578	118014578	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:118014578C>T	uc001pse.2	-	3	675	c.433G>A	c.(433-435)GCC>ACC	p.A145T	SCN4B_uc010rxu.1_Missense_Mutation_p.A35T|SCN4B_uc010rxv.1_Intron	NM_174934	NP_777594	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta	145	Ig-like C2-type.|Extracellular (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AAGATGGTGGCGTGGTGCTGG	0.547000												
TRIM29	23650	broad.mit.edu	37	11	119998088	119998088	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:119998088G>A	uc001pwz.2	-	3	1214	c.1090C>T	c.(1090-1092)CGG>TGG	p.R364W	TRIM29_uc010rzi.1_Missense_Mutation_p.R103W|TRIM29_uc010rzj.1_Missense_Mutation_p.R97W|TRIM29_uc001pxa.2_RNA	NM_012101	NP_036233	Q14134	TRI29_HUMAN	tripartite motif protein TRIM29	364					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|breast(1)|kidney(1)|skin(1)	4		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGCTGCTCCCGGGTCTGCTTG	0.542000												
OR4D5	219875	broad.mit.edu	37	11	123811011	123811011	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:123811011C>T	uc001pzk.1	+	1	688	c.688C>T	c.(688-690)CGG>TGG	p.R230W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	230	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGCCACTCACGGGAGGGCCG	0.522000												
OR8B2	26595	broad.mit.edu	37	11	124252647	124252647	+	Missense_Mutation	SNP	A	A	G	rs141277809		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:124252647A>G	uc010sai.1	-	1	593	c.593T>C	c.(592-594)GTT>GCT	p.V198A		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATGAGAACAACCACCTCGTT	0.433000												
CACNA1C	775	broad.mit.edu	37	12	2675632	2675632	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:2675632G>A	uc009zdu.1	+	12	1866	c.1553G>A	c.(1552-1554)CGC>CAC	p.R518H	CACNA1C_uc009zdv.1_Missense_Mutation_p.R515H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R518H|CACNA1C_uc001qke.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518H|CACNA1C_uc001qko.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518H|CACNA1C_uc001qku.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518H|CACNA1C_uc001qks.2_Missense_Mutation_p.R518H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518H|CACNA1C_uc001qka.1_Missense_Mutation_p.R53H|CACNA1C_uc001qki.1_Missense_Mutation_p.R254H|CACNA1C_uc001qkj.1_Missense_Mutation_p.R254H|CACNA1C_uc001qkk.1_Missense_Mutation_p.R254H|CACNA1C_uc001qkm.1_Missense_Mutation_p.R254H|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183H|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88H	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	518	II.|Cytoplasmic (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGAAGTGCCGCGCCGCAGTC	0.567000												
CHD4	1108	broad.mit.edu	37	12	6700658	6700658	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:6700658C>T	uc001qpo.2	-	22	3478	c.3314G>A	c.(3313-3315)CGG>CAG	p.R1105Q	CHD4_uc001qpn.2_Missense_Mutation_p.R1098Q|CHD4_uc001qpp.2_Missense_Mutation_p.R1102Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1105	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGCCTCTTGCCGCATGTTCCC	0.433000												
C3AR1	719	broad.mit.edu	37	12	8212438	8212438	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:8212438G>A	uc001qtv.1	-	2	436	c.344C>T	c.(343-345)GCC>GTC	p.A115V		NM_004054	NP_004045	Q16581	C3AR_HUMAN	complement component 3a receptor 1	115	Helical; Name=3; (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)		CAGGCTAATGGCAGTAAGCAG	0.517000												
PLEKHA5	54477	broad.mit.edu	37	12	19475256	19475256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:19475256C>T	uc001reb.2	+	14	2007	c.1921C>T	c.(1921-1923)CGA>TGA	p.R641*	PLEKHA5_uc010sie.1_Nonsense_Mutation_p.R744*|PLEKHA5_uc001rea.2_Nonsense_Mutation_p.R699*|PLEKHA5_uc009zin.2_Nonsense_Mutation_p.R399*|PLEKHA5_uc010sif.1_Nonsense_Mutation_p.R572*|PLEKHA5_uc010sig.1_Nonsense_Mutation_p.R560*|PLEKHA5_uc010sih.1_Nonsense_Mutation_p.R533*|PLEKHA5_uc001rec.1_Nonsense_Mutation_p.R387*|PLEKHA5_uc009zio.2_5'Flank	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	641							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAAGTTAAGCCGATTATGTGA	0.348000												
RECQL	5965	broad.mit.edu	37	12	21630862	21630862	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:21630862C>T	uc001rex.2	-	8	1090	c.742G>A	c.(742-744)GCA>ACA	p.A248T	RECQL_uc001rey.2_Missense_Mutation_p.A248T	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	248	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						ATTAGTGATGCGTTAGGGAAC	0.358000								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:25398284C>T	uc001rgp.1	-	2	216	c.35G>A	c.(34-36)GGT>GAT	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)		
NELL2	4753	broad.mit.edu	37	12	45168556	45168556	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:45168556T>C	uc001rog.2	-	9	1563	c.968A>G	c.(967-969)GAT>GGT	p.D323G	NELL2_uc001rof.3_Missense_Mutation_p.D322G|NELL2_uc001roh.2_Missense_Mutation_p.D323G|NELL2_uc009zkd.2_Missense_Mutation_p.D322G|NELL2_uc010skz.1_Missense_Mutation_p.D373G|NELL2_uc010sla.1_Missense_Mutation_p.D346G|NELL2_uc001roi.1_Missense_Mutation_p.D323G|NELL2_uc010slb.1_Missense_Mutation_p.D322G|NELL2_uc001roj.2_Missense_Mutation_p.D323G	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN	NEL-like protein 2 isoform b precursor	323	VWFC 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCATTTGCCATCCACATACGC	0.368000											OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DDN	23109	broad.mit.edu	37	12	49391874	49391874	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:49391874G>A	uc001rsv.1	-	2	803	c.785C>T	c.(784-786)GCC>GTC	p.A262V	uc001rsw.2_5'Flank	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	262						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						GTCTGTCCTGGCTGGAGTCGC	0.637000												
MLL2	8085	broad.mit.edu	37	12	49435457	49435457	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:49435457C>T	uc001rta.3	-	30	6215	c.6215G>A	c.(6214-6216)CGC>CAC	p.R2072H		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2072					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CTTGTTGATGCGGTGAGCTGC	0.607000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
ACCN2	41	broad.mit.edu	37	12	50472315	50472315	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:50472315C>T	uc001rvw.2	+	6	1178	c.949C>T	c.(949-951)CGC>TGC	p.R317C	ACCN2_uc001rvv.2_Missense_Mutation_p.R317C|ACCN2_uc009zln.2_Missense_Mutation_p.R108C|ACCN2_uc009zlo.2_Missense_Mutation_p.R317C	NM_001095	NP_001086	P78348	ACCN2_HUMAN	amiloride-sensitive cation channel 2, neuronal	317	Extracellular (By similarity).				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding			ovary(1)	1					Amiloride(DB00594)	CTGTGAGACGCGCTACCTGGT	0.612000												
KRT83	3889	broad.mit.edu	37	12	52714736	52714736	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:52714736C>A	uc001saf.2	-	1	447	c.384G>T	c.(382-384)AAG>AAT	p.K128N		NM_002282	NP_002273	P78385	KRT83_HUMAN	keratin 83	128	Rod.|Coil 1A.				epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGACACCCACCTTGTCGATGA	0.562000												
KRT4	3851	broad.mit.edu	37	12	53207948	53207948	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:53207948C>T	uc001saz.2	-	1	388	c.117G>A	c.(115-117)AAG>AAA	p.K39K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	keratin 4	Error:Variant_position_missing_in_B4DRS2_after_alignment						keratin filament	structural molecule activity			ovary(4)|skin(2)	6						AGCAGCAGGGCTTGGTTGCAG	0.567000												
NCKAP1L	3071	broad.mit.edu	37	12	54911711	54911711	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:54911711G>A	uc001sgc.3	+	13	1406	c.1327G>A	c.(1327-1329)GAC>AAC	p.D443N	NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.D393N	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	443					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						TGTGCTCAGTGACATCATTCA	0.403000												
ZC3H10	84872	broad.mit.edu	37	12	56514888	56514888	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:56514888T>C	uc001sjp.1	+	3	731	c.542T>C	c.(541-543)GTC>GCC	p.V181A		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	181							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ACAGGCTCAGTCCTCCCAGGA	0.572000												
TIMELESS	8914	broad.mit.edu	37	12	56817448	56817448	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:56817448C>T	uc001slf.2	-	17	2178	c.2010G>A	c.(2008-2010)GAG>GAA	p.E670E		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	670	Glu-rich.				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						cctcctcctcctcttcttctt	0.418000												
NAB2	4665	broad.mit.edu	37	12	57485177	57485177	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:57485177C>A	uc001smz.2	+	2	731	c.353C>A	c.(352-354)CCT>CAT	p.P118H		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	118					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CAACCAGTGCCTGCTGTTCCC	0.612000												
SHMT2	6472	broad.mit.edu	37	12	57627591	57627591	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:57627591C>T	uc001snf.1	+	10	1193	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	SHMT2_uc001sng.1_Missense_Mutation_p.R291W|SHMT2_uc001snh.1_Missense_Mutation_p.R234W|SHMT2_uc009zpk.1_Missense_Mutation_p.R385W|SHMT2_uc001sni.1_Missense_Mutation_p.R374W|SHMT2_uc010srg.1_Missense_Mutation_p.R404W|SHMT2_uc001snj.1_Missense_Mutation_p.R299W|SHMT2_uc010srh.1_Missense_Mutation_p.R374W|SHMT2_uc001snk.1_Missense_Mutation_p.R299W|SHMT2_uc010sri.1_Missense_Mutation_p.R374W|SHMT2_uc001snl.2_Missense_Mutation_p.R299W|SHMT2_uc010srj.1_Missense_Mutation_p.R50W	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	395						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGATGGAGCTCGGGCTGAGCG	0.612000												
MBD6	114785	broad.mit.edu	37	12	57919678	57919678	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:57919678G>A	uc001soj.1	+	6	1151	c.927G>A	c.(925-927)ACG>ACA	p.T309T	MBD6_uc001sok.1_Silent_p.T176T|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	309	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			central_nervous_system(3)|ovary(1)	4						GGGCCCCCACGGTGGAGGGGC	0.672000												
C12orf56	115749	broad.mit.edu	37	12	64664463	64664463	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:64664463A>G	uc001ssa.3	-	10	1136	c.1136T>C	c.(1135-1137)GTG>GCG	p.V379A	uc001srx.2_Intron|C12orf56_uc001sry.2_Missense_Mutation_p.V121A|C12orf56_uc001srz.2_Missense_Mutation_p.V21A	NM_001099676	NP_001093146	Q8IXR9	CL056_HUMAN	hypothetical protein LOC115749	542											0			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACCCCTCACCACTTGTTTCAC	0.463000												
PAH	5053	broad.mit.edu	37	12	103249064	103249064	+	Missense_Mutation	SNP	T	T	G	rs62507328		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:103249064T>G	uc001tjq.1	-	7	1028	c.556A>C	c.(556-558)ACA>CCA	p.T186P	PAH_uc010swc.1_Missense_Mutation_p.T186P	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	186					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGCCCCATGTTTTCTTTTCT	0.458000												
CRY1	1407	broad.mit.edu	37	12	107393531	107393531	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:107393531T>G	uc001tmi.3	-	7	1794	c.935A>C	c.(934-936)AAC>ACC	p.N312T		NM_004075	NP_004066	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	312	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			ovary(3)	3						ACAGATAGGGTTTCCTTCCAT	0.448000												
WSCD2	9671	broad.mit.edu	37	12	108626520	108626520	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:108626520T>C	uc001tms.2	+	7	1736	c.992T>C	c.(991-993)ATG>ACG	p.M331T	WSCD2_uc001tmt.2_Missense_Mutation_p.M331T|WSCD2_uc001tmu.2_Missense_Mutation_p.M79T	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	331						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						AACCGTTGCATGGACAGAAGG	0.333000												
SSH1	54434	broad.mit.edu	37	12	109182492	109182492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:109182492G>A	uc001tnm.2	-	15	2509	c.2422C>T	c.(2422-2424)CAG>TAG	p.Q808*	SSH1_uc001tnl.2_Nonsense_Mutation_p.Q496*	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	808					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4						TCCTGGTGCTGCATCAGGTAG	0.542000												
UNG	7374	broad.mit.edu	37	12	109539760	109539760	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:109539760C>A	uc001tnz.1	+	4	559	c.489C>A	c.(487-489)CAC>CAA	p.H163Q	UNG_uc001toa.1_Missense_Mutation_p.H154Q	NM_080911	NP_550433	P13051	UNG_HUMAN	uracil-DNA glycosylase isoform UNG2	163					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			lung(1)|central_nervous_system(1)	2						ATCAAGCTCACGGGCTCTGCT	0.488000								BER_DNA_glycosylases	Immune_Deficiency_with_Hyper-IgM			
IFT81	28981	broad.mit.edu	37	12	110600774	110600774	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:110600774G>T	uc001tqi.2	+	11	1222	c.1092G>T	c.(1090-1092)GAG>GAT	p.E364D	IFT81_uc001tqh.2_Missense_Mutation_p.E364D|IFT81_uc001tqj.2_RNA|IFT81_uc001tqg.2_Missense_Mutation_p.E364D	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	364	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						AACTTCAGGAGGCCAAGGAGA	0.388000												
SRRM4	84530	broad.mit.edu	37	12	119592154	119592154	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:119592154T>A	uc001txa.1	+	12	1790	c.1498T>A	c.(1498-1500)TCC>ACC	p.S500T		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	KIAA1853 protein	500	Ser-rich.|Arg-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			ovary(2)	2						CCGGAGAGACTCCCCGAGCCA	0.627000												
COQ5	84274	broad.mit.edu	37	12	120954554	120954554	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:120954554G>A	uc001tyn.2	-	3	410	c.390C>T	c.(388-390)TCC>TCT	p.S130S	COQ5_uc001tyo.2_Silent_p.S49S|COQ5_uc010szj.1_Intron	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase	130					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGATGCTGGGACTGAACAT	0.418000												
IL31	386653	broad.mit.edu	37	12	122657233	122657233	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:122657233C>A	uc001ubv.2	-	3	248	c.221G>T	c.(220-222)AGC>ATC	p.S74I	LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	interleukin 31 precursor	74						extracellular space	cytokine activity			central_nervous_system(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCGTCAGGGCTGAGACACGG	0.522000												
GPR81	27198	broad.mit.edu	37	12	123214864	123214864	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:123214864C>T	uc001ucz.2	-	1	266	c.23G>A	c.(22-24)CGC>CAC	p.R8H	GPR81_uc001ucw.1_RNA	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN	G protein-coupled receptor 81	8	Extracellular (Potential).				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CCCCTCGATGCGGCAGCACGA	0.622000												
VPS37B	79720	broad.mit.edu	37	12	123351918	123351918	+	Silent	SNP	G	G	A	rs138907975	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:123351918G>A	uc001udl.2	-	4	706	c.603C>T	c.(601-603)GCC>GCT	p.A201A		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	201	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GAGGTGCAACGGCAGGAGGCC	0.731000												
SETD8	387893	broad.mit.edu	37	12	123875278	123875278	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:123875278T>C	uc001uew.2	+	3	276	c.234T>C	c.(232-234)CAT>CAC	p.H78H	SETD8_uc001uex.2_Silent_p.H13H	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CAGTTACACATCACGAAGTCA	0.478000												
DHX37	57647	broad.mit.edu	37	12	125451349	125451349	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:125451349G>A	uc001ugy.2	-	12	1679	c.1580C>T	c.(1579-1581)GCG>GTG	p.A527V		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	527	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CTCAGCCCGCGCCTTCTTGGC	0.443000												
AACS	65985	broad.mit.edu	37	12	125603191	125603191	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:125603191G>A	uc001uhc.2	+	10	1207	c.1001G>A	c.(1000-1002)GGC>GAC	p.G334D	AACS_uc001uhd.2_Missense_Mutation_p.G334D|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	334					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTGCAGGTCGGCTGGATGATG	0.642000												
RIMBP2	23504	broad.mit.edu	37	12	130929709	130929709	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:130929709A>T	uc001uil.2	-	7	800	c.636T>A	c.(634-636)TAT>TAA	p.Y212*	RIMBP2_uc001uim.2_Nonsense_Mutation_p.Y120*|RIMBP2_uc001uin.1_5'Flank	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	212	SH3 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGACCTTCATAGAACCCAT	0.592000												
MMP17	4326	broad.mit.edu	37	12	132334532	132334532	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:132334532G>A	uc001ujc.1	+	9	1489	c.1390G>A	c.(1390-1392)GGC>AGC	p.G464S	MMP17_uc001ujd.1_Missense_Mutation_p.G380S	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	464	Hemopexin-like 3.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CATGGACCCCGGCTACCCCGC	0.647000												
NOC4L	79050	broad.mit.edu	37	12	132636060	132636060	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:132636060G>A	uc001ujz.1	+	12	1146	c.1105G>A	c.(1105-1107)GCC>ACC	p.A369T		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog	369					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		GGCCGCCTTCGCCAAGCGGCT	0.721000												
GOLGA3	2802	broad.mit.edu	37	12	133372463	133372463	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:133372463T>C	uc001ukz.1	-	11	3003	c.2444A>G	c.(2443-2445)GAA>GGA	p.E815G	GOLGA3_uc001ula.1_Missense_Mutation_p.E815G|GOLGA3_uc001ulb.2_Missense_Mutation_p.E815G	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	815	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AGCTAATTCTTCTCTTAACTT	0.438000												
RNF17	56163	broad.mit.edu	37	13	25425604	25425604	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:25425604C>T	uc001upr.2	+	24	3256	c.3215C>T	c.(3214-3216)ACA>ATA	p.T1072I	RNF17_uc010tdd.1_Missense_Mutation_p.T931I|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.T1068I|RNF17_uc001ups.2_Missense_Mutation_p.T1011I|RNF17_uc010aac.2_Missense_Mutation_p.T270I|RNF17_uc010aad.2_Missense_Mutation_p.T124I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1072					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAAACAACACAACATGGCCA	0.338000												
RNF17	56163	broad.mit.edu	37	13	25444862	25444862	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:25444862A>G	uc001upr.2	+	32	4473	c.4432A>G	c.(4432-4434)ACG>GCG	p.T1478A	RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.T1474A|RNF17_uc001ups.2_Missense_Mutation_p.T1417A|RNF17_uc010aac.2_Missense_Mutation_p.T670A|RNF17_uc010aad.2_Missense_Mutation_p.T488A	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1478					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCCTCCTCTGACGGATTTTAG	0.423000												
BRCA2	675	broad.mit.edu	37	13	32937540	32937540	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:32937540C>A	uc001uub.1	+	18	8428	c.8201C>A	c.(8200-8202)CCT>CAT	p.P2734H		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2734					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAGTTAGATCCTCCCCTCTTA	0.443000			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
ALG5	29880	broad.mit.edu	37	13	37567776	37567776	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:37567776C>T	uc001uvy.2	-	4	386	c.319G>A	c.(319-321)GTA>ATA	p.V107I	ALG5_uc010teq.1_Intron|ALG5_uc010ter.1_RNA	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	dolichyl-phosphate beta-glucosyltransferase	107	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity				0		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCATCAACTACTATCACTTCA	0.318000												
ZC3H13	23091	broad.mit.edu	37	13	46543969	46543969	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:46543969G>A	uc010tfw.1	-	13	2716	c.2710C>T	c.(2710-2712)CGC>TGC	p.R904C	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R904C|ZC3H13_uc001vat.1_Missense_Mutation_p.R904C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	904							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)		TCTTCGTAGCGCCTTGAACTC	0.453000												
WDFY2	115825	broad.mit.edu	37	13	52332350	52332350	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:52332350C>T	uc001vfp.2	+	11	1427	c.1087C>T	c.(1087-1089)CAT>TAT	p.H363Y		NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	363							metal ion binding				0		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGCCACCTTCCATGACAGTAA	0.443000												
NEK5	341676	broad.mit.edu	37	13	52686430	52686430	+	Missense_Mutation	SNP	G	G	A	rs147607303	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:52686430G>A	uc001vge.2	-	5	426	c.286C>T	c.(286-288)CGG>TGG	p.R96W	NEK5_uc001vgf.2_Missense_Mutation_p.R96W	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	96	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AACACACCCCGTTGTCTATTG	0.353000												
UGGT2	55757	broad.mit.edu	37	13	96536889	96536889	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:96536889A>T	uc001vmt.2	-	27	3254	c.3084T>A	c.(3082-3084)AAT>AAA	p.N1028K	UGGT2_uc001vmu.1_Missense_Mutation_p.N115K	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	1028					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						AAGAAACGTCATTAGCCCCTG	0.373000												
C13orf27	93081	broad.mit.edu	37	13	103419821	103419821	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:103419821T>C	uc001vpo.2	-	5	484	c.306A>G	c.(304-306)TCA>TCG	p.S102S	C13orf27_uc001vpn.2_Silent_p.S61S|C13orf27_uc001vpp.2_Silent_p.S61S	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	hypothetical protein LOC93081	102											0	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGAGCCCATTGAACGACCTA	0.378000												
RASA3	22821	broad.mit.edu	37	13	114762186	114762186	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:114762186C>T	uc001vui.2	-	21	2093	c.1962G>A	c.(1960-1962)GCG>GCA	p.A654A	RASA3_uc010tkk.1_Silent_p.A622A|RASA3_uc001vuj.2_Silent_p.A271A	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	654	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GGATGTACAGCGCACGCTCTG	0.592000												
POTEG	404785	broad.mit.edu	37	14	19553819	19553819	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:19553819G>A	uc001vuz.1	+	1	455	c.403G>A	c.(403-405)GTC>ATC	p.V135I	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	135										ovary(1)	1						GAGGTACCACGTCCGTCGAGA	0.582000												
FLJ10357	55701	broad.mit.edu	37	14	21543327	21543327	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:21543327C>T	uc001vzp.2	+	3	1467	c.1438C>T	c.(1438-1440)CTG>TTG	p.L480L	FLJ10357_uc001vzn.1_Silent_p.L480L|FLJ10357_uc001vzo.1_Intron|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Intron	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	hypothetical protein LOC55701	480					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)		GCCAGGCCTGCTGTGTATGGC	0.627000												
CHD8	57680	broad.mit.edu	37	14	21876597	21876597	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:21876597C>T	uc001was.1	-	13	1861	c.1767G>A	c.(1765-1767)CTG>CTA	p.L589L	CHD8_uc001war.1_Silent_p.L485L|CHD8_uc001wav.1_Silent_p.L31L	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	868	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TAATTGTGGACAGTGGGGCAA	0.453000												
MYH6	4624	broad.mit.edu	37	14	23855225	23855225	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:23855225G>A	uc001wjv.2	-	34	5142	c.5075C>T	c.(5074-5076)GCC>GTC	p.A1692V		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1692	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCACCACGGCACGCAGCTC	0.652000												
REC8	9985	broad.mit.edu	37	14	24647332	24647332	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:24647332C>T	uc001wmr.2	+	14	1327	c.900C>T	c.(898-900)CGC>CGT	p.R300R	REC8_uc001wms.2_Silent_p.R300R	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	300	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)		CTCGCCGCCGCCGTCGTCGCC	0.602000												
HECTD1	25831	broad.mit.edu	37	14	31590658	31590658	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:31590658C>T	uc001wrc.1	-	28	5658	c.5169G>A	c.(5167-5169)ACG>ACA	p.T1723T	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.T1191T	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	HECT domain containing 1	1723					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)		CAGCATGATGCGTTACATCAG	0.483000												
NKX2-1	7080	broad.mit.edu	37	14	36988386	36988386	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:36988386C>T	uc001wtt.2	-	1	518	c.177G>A	c.(175-177)GGG>GGA	p.G59G	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Silent_p.G89G|NKX2-1_uc001wtv.2_Silent_p.G59G|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	59					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CGCCGTGGTGCCCCACGGCGT	0.751000			A		NSCLC							
FOXA1	3169	broad.mit.edu	37	14	38061194	38061194	+	Silent	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:38061194G>T	uc001wuf.2	-	2	1107	c.795C>A	c.(793-795)CGC>CGA	p.R265R	FOXA1_uc010tpz.1_Silent_p.R232R	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	265					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGCACTTGAAGCGCTTCTGGC	0.517000												
PNN	5411	broad.mit.edu	37	14	39650346	39650346	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:39650346C>A	uc001wuw.3	+	9	1530	c.1433C>A	c.(1432-1434)CCT>CAT	p.P478H		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	478	Gln-rich.			P -> A (in Ref. 1; AAB48304).	cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		caacctcagcctcagtctcag	0.348000												
NIN	51199	broad.mit.edu	37	14	51224807	51224807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:51224807G>A	uc001wym.2	-	18	3132	c.2941C>T	c.(2941-2943)CAG>TAG	p.Q981*	NIN_uc001wyi.2_Nonsense_Mutation_p.Q981*|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Nonsense_Mutation_p.Q987*|NIN_uc001wyo.2_Nonsense_Mutation_p.Q981*	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN	ninein isoform 5	981	Potential.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)					ATCATTTCCTGCCTTTCCTGG	0.547000			T	PDGFRB	MPD							
NID2	22795	broad.mit.edu	37	14	52507378	52507378	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:52507378A>G	uc001wzo.2	-	8	2251	c.2017T>C	c.(2017-2019)TCC>CCC	p.S673P	NID2_uc010tqs.1_Missense_Mutation_p.S673P|NID2_uc010tqt.1_Missense_Mutation_p.S673P|NID2_uc001wzp.2_Missense_Mutation_p.S673P	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	673	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGAGTCGGAGTAGTGGTAC	0.289000												
DACT1	51339	broad.mit.edu	37	14	59112582	59112582	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:59112582C>A	uc001xdw.2	+	4	1405	c.1241C>A	c.(1240-1242)TCC>TAC	p.S414Y	DACT1_uc010trv.1_Missense_Mutation_p.S133Y|DACT1_uc001xdx.2_Missense_Mutation_p.S377Y|DACT1_uc010trw.1_Missense_Mutation_p.S133Y	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	dapper 1 isoform 1	414					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				large_intestine(2)|lung(2)|ovary(1)	5						GGGACATTCTCCCCACCGAAG	0.587000												
SYNE2	23224	broad.mit.edu	37	14	64692209	64692209	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:64692209A>G	uc001xgm.2	+	115	20853	c.20623A>G	c.(20623-20625)ATG>GTG	p.M6875V	SYNE2_uc001xgl.2_Missense_Mutation_p.M6897V|SYNE2_uc010apy.2_Missense_Mutation_p.M3260V|SYNE2_uc001xgn.2_Missense_Mutation_p.M1836V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M845V|SYNE2_uc001xgq.2_Missense_Mutation_p.M1254V|SYNE2_uc001xgr.2_Missense_Mutation_p.M658V|SYNE2_uc010tsi.1_Missense_Mutation_p.M532V|SYNE2_uc001xgs.2_Missense_Mutation_p.M546V|SYNE2_uc001xgt.2_Missense_Mutation_p.M419V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6875	Perinuclear space (Potential).|KASH.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTTTACCCCATGCTGAGGTA	0.488000												
ESR2	2100	broad.mit.edu	37	14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:64735545C>T	uc001xha.1	-	4	1088	c.620G>A	c.(619-621)CGG>CAG	p.R207Q	ESR2_uc001xgu.2_Missense_Mutation_p.R207Q|ESR2_uc001xgv.2_Missense_Mutation_p.R207Q|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Missense_Mutation_p.R207Q|ESR2_uc001xgy.1_Missense_Mutation_p.R207Q|ESR2_uc001xgz.1_Missense_Mutation_p.R207Q|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R207Q	NM_001437	NP_001428	Q92731	ESR2_HUMAN	estrogen receptor beta isoform 1	207	NR C4-type.|Nuclear receptor.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.448000												
C14orf169	79697	broad.mit.edu	37	14	73958571	73958571	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:73958571G>A	uc001xok.1	+	3	929	c.850G>A	c.(850-852)GCC>ACC	p.A284T	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	284					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		CGCGCTGCCCGCCGCCGCGTG	0.652000												
C14orf169	79697	broad.mit.edu	37	14	73958594	73958594	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:73958594G>T	uc001xok.1	+	3	952	c.873G>T	c.(871-873)CAG>CAT	p.Q291H	HEATR4_uc010tua.1_Intron	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN	chromosome 14 open reading frame 169	291					negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)		CCCTGTACCAGGCCGGCTGCT	0.642000												
ESRRB	2103	broad.mit.edu	37	14	76905939	76905939	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:76905939C>T	uc001xsq.1	+	2	310	c.243C>T	c.(241-243)AGC>AGT	p.S81S	ESRRB_uc001xsr.2_Silent_p.S81S|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	81						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACTGTGCCAGCGGCATCATGG	0.652000												
CCDC88C	440193	broad.mit.edu	37	14	91806315	91806315	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:91806315G>A	uc010aty.2	-	7	636	c.537C>T	c.(535-537)GAC>GAT	p.D179D	CCDC88C_uc010twk.1_Silent_p.D143D	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	179					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				CCGGAGCCACGTCGGGCAGCT	0.677000												
CKB	1152	broad.mit.edu	37	14	103988703	103988703	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:103988703C>T	uc001ynf.1	-	2	208	c.128G>A	c.(127-129)CGC>CAC	p.R43H	CKB_uc001yne.1_5'Flank|CKB_uc010awr.1_Intron	NM_001823	NP_001814	P12277	KCRB_HUMAN	brain creatine kinase	43	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity				0		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCTCTTGGCGCGCAGCTCCGC	0.602000												
AHNAK2	113146	broad.mit.edu	37	14	105411498	105411498	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:105411498A>G	uc010axc.1	-	7	10410	c.10290T>C	c.(10288-10290)CCT>CCC	p.P3430P	AHNAK2_uc001ypx.2_Silent_p.P3330P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3430						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)			CCTCCACATCAGGGACTGTCA	0.622000												
JAG2	3714	broad.mit.edu	37	14	105617714	105617714	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:105617714C>T	uc001yqg.2	-	9	1577	c.1173G>A	c.(1171-1173)TCG>TCA	p.S391S	JAG2_uc001yqf.2_5'UTR|JAG2_uc001yqh.2_Silent_p.S391S	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	jagged 2 isoform a precursor	391	EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			lung(3)|breast(2)	5		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CACACGGGTTCGAAGCACACT	0.652000												
C15orf2	23742	broad.mit.edu	37	15	24922567	24922567	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:24922567C>A	uc001ywo.2	+	1	2027	c.1553C>A	c.(1552-1554)TCT>TAT	p.S518Y		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	518	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCCCAATATCTATGTGTGTG	0.547000												
TRPM1	4308	broad.mit.edu	37	15	31332426	31332426	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:31332426G>A	uc001zfm.2	-	17	2273	c.2145C>T	c.(2143-2145)GCC>GCT	p.A715A	TRPM1_uc010azy.2_Silent_p.A622A|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	715	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TGGCTGCCACGGCCAGTTTGA	0.542000												
RYR3	6263	broad.mit.edu	37	15	34014966	34014966	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:34014966C>T	uc001zhi.2	+	44	6740	c.6670C>T	c.(6670-6672)CGC>TGC	p.R2224C	RYR3_uc010bar.2_Missense_Mutation_p.R2224C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2224	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCATCAGACGCCCAGAGTG	0.582000												
RASGRP1	10125	broad.mit.edu	37	15	38786599	38786599	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:38786599T>C	uc001zke.3	-	16	2421	c.2243A>G	c.(2242-2244)TAC>TGC	p.Y748C	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Intron|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Missense_Mutation_p.Y713C	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	748	Potential.|PT region; mediates the BCR-dependent translocation to plasma membrane (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CAGTTCTTGGTAGGTAGGCAG	0.458000												
DISP2	85455	broad.mit.edu	37	15	40659315	40659315	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:40659315C>T	uc001zlk.1	+	8	1091	c.1002C>T	c.(1000-1002)TGC>TGT	p.C334C		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	dispatched B	334					smoothened signaling pathway	integral to membrane				ovary(2)	2		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCAACCAGTGCTGCCCCAGCT	0.657000												
DLL4	54567	broad.mit.edu	37	15	41228465	41228465	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:41228465G>A	uc001zng.1	+	9	1600	c.1280G>A	c.(1279-1281)CGC>CAC	p.R427H		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	427	EGF-like 6.|Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGCATGTGCCGCTGCCGTCCT	0.627000												
CKMT1A	548596	broad.mit.edu	37	15	43990261	43990261	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:43990261G>A	uc001zsn.2	+	8	1318	c.926G>A	c.(925-927)CGT>CAT	p.R309H	CKMT1A_uc010uea.1_Missense_Mutation_p.R340H|CKMT1A_uc001zso.3_Missense_Mutation_p.R309H	NM_001015001	NP_001015001	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A precursor	309	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGGAATGAGCGTTTGGGATAC	0.458000												
DUOX2	50506	broad.mit.edu	37	15	45401049	45401049	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:45401049G>A	uc010bea.2	-	12	1539	c.1336C>T	c.(1336-1338)CTG>TTG	p.L446L	DUOX2_uc001zun.2_Silent_p.L446L	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	446	Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCAAAGGCCAGCAGGGCCTGG	0.507000												
MYO5A	4644	broad.mit.edu	37	15	52689609	52689609	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:52689609C>T	uc002aby.2	-	10	1352	c.1108G>A	c.(1108-1110)GAG>AAG	p.E370K	MYO5A_uc002abx.3_Missense_Mutation_p.E370K|MYO5A_uc010uge.1_Missense_Mutation_p.E239K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA isoform 1	370	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|central_nervous_system(1)	4				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGACACATCTCCTCATAGTCC	0.483000												
SLTM	79811	broad.mit.edu	37	15	59191666	59191666	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:59191666A>G	uc002afp.2	-	7	1146	c.1058_splice	c.e7+1	p.S353_splice	SLTM_uc002afo.2_Splice_Site_p.S335_splice|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.F253L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription						apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						AGAAAAACAAACCTCTTTGCT	0.408000												
NARG2	79664	broad.mit.edu	37	15	60760424	60760424	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:60760424T>G	uc002agp.2	-	4	479	c.244A>C	c.(244-246)ATT>CTT	p.I82L	NARG2_uc002ago.2_Intron|NARG2_uc010bgk.2_Missense_Mutation_p.I82L|NARG2_uc002agr.1_Missense_Mutation_p.I82L	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	82						nucleus				ovary(1)|lung(1)	2						ACCATTCCAATTGTGGTTTTA	0.403000												
SMAD6	4091	broad.mit.edu	37	15	67073530	67073530	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:67073530C>T	uc002aqf.2	+	4	2071	c.1148C>T	c.(1147-1149)ACG>ATG	p.T383M	SMAD6_uc010bhx.2_RNA|SMAD6_uc002aqg.2_Missense_Mutation_p.T122M	NM_005585	NP_005576	O43541	SMAD6_HUMAN	SMAD family member 6 isoform 1	383	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			skin(1)	1						GTGCGGCGAACGCGCAGCAAG	0.662000												
NPTN	27020	broad.mit.edu	37	15	73889460	73889460	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:73889460G>A	uc002avs.2	-	2	539	c.342C>T	c.(340-342)TAC>TAT	p.Y114Y	NPTN_uc010bjc.2_Silent_p.Y114Y|NPTN_uc002avt.2_Intron|NPTN_uc002avr.2_Intron|NPTN_uc010ula.1_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	neuroplastin isoform b precursor	114	Ig-like 1.|Extracellular (Potential).				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding				0						CCCTGCACTCGTAAGTCCCAG	0.577000												
CHRNB4	1143	broad.mit.edu	37	15	78921565	78921565	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:78921565G>A	uc002bed.1	-	5	1194	c.1082C>T	c.(1081-1083)CCG>CTG	p.P361L	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.P179L	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	361	Cytoplasmic (Potential).				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0						CTTGCTGGGCGGGAAGGCTCT	0.632000												
MORF4L1	10933	broad.mit.edu	37	15	79186547	79186547	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:79186547A>G	uc002bel.2	+	11	1082	c.894A>G	c.(892-894)GGA>GGG	p.G298G	MORF4L1_uc002bem.2_Silent_p.G259G|MORF4L1_uc010une.1_Silent_p.G171G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	298	Sufficient for interaction with PHF12.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						AGGTGTATGGAGCGCCACATC	0.398000												
KIAA1024	23251	broad.mit.edu	37	15	79749633	79749633	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:79749633T>C	uc002bew.1	+	2	1219	c.1144T>C	c.(1144-1146)TCC>CCC	p.S382P	KIAA1024_uc010unk.1_Missense_Mutation_p.S382P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	382						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						CTTTGAACGGTCCTTTTTCAA	0.532000												
TM6SF1	53346	broad.mit.edu	37	15	83795547	83795547	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:83795547C>T	uc002bjp.2	+	8	858	c.749C>T	c.(748-750)ACG>ATG	p.T250M	TM6SF1_uc010bmq.2_Intron|TM6SF1_uc002bjq.2_Intron|TM6SF1_uc010bmr.2_Intron|TM6SF1_uc002bjr.2_Missense_Mutation_p.T102M	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1 isoform 1	250						integral to membrane				ovary(1)	1						CGATTATATACGCAATTTCAA	0.338000												
HDGFRP3	50810	broad.mit.edu	37	15	83820028	83820028	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:83820028C>A	uc002bjs.1	-	5	700	c.545G>T	c.(544-546)GGT>GTT	p.G182V		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	hepatoma-derived growth factor, related protein	182					cell proliferation	nucleus	growth factor activity				0						CGCATCTCCACCCTCAGAGCT	0.418000												
ALPK3	57538	broad.mit.edu	37	15	85383910	85383910	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:85383910C>T	uc002ble.2	+	5	2173	c.2006C>T	c.(2005-2007)ACA>ATA	p.T669I		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	669					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGCCAGCCCACACACTCCTTG	0.637000												
FURIN	5045	broad.mit.edu	37	15	91420789	91420789	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:91420789C>T	uc002bpu.1	+	7	827	c.611C>T	c.(610-612)GCG>GTG	p.A204V		NM_002569	NP_002560	P09958	FURIN_HUMAN	furin preproprotein	204					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			central_nervous_system(4)|lung(2)|breast(1)	7	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAAGTGGCTGCGGTGGCCAAC	0.637000												
FES	2242	broad.mit.edu	37	15	91433451	91433451	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:91433451C>T	uc002bpv.2	+	9	1275	c.1179C>T	c.(1177-1179)CCC>CCT	p.P393P	FES_uc010uqj.1_Silent_p.P335P|FES_uc010uqk.1_Silent_p.P375P|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.P335P|FES_uc002bpx.2_Silent_p.P393P|FES_uc002bpy.2_Silent_p.P335P	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	393					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTGGGCCCCGGCGAGCCCC	0.711000												
FAM169B	283777	broad.mit.edu	37	15	98982885	98982885	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:98982885C>A	uc002buk.1	-	7	804	c.554G>T	c.(553-555)GGC>GTC	p.G185V		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	185											0						TGTAAGCTTGCCTGGTGGCTG	0.597000												
FAM169B	283777	broad.mit.edu	37	15	99023964	99023964	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:99023964C>T	uc002buk.1	-	4	299	c.49G>A	c.(49-51)GCC>ACC	p.A17T		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	hypothetical protein LOC283777	17											0						AAAATAATGGCGTTTAGAATG	0.383000												
MPG	4350	broad.mit.edu	37	16	129486	129486	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:129486G>A	uc002cfn.2	+	3	420	c.102G>A	c.(100-102)TCG>TCA	p.S34S	MPG_uc002cfm.2_Silent_p.S17S|MPG_uc010bqp.2_Silent_p.S17S|MPG_uc002cfo.2_Silent_p.S29S	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	34					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CACACAGCTCGTCCGACGCAG	0.597000								BER_DNA_glycosylases				
TMEM8A	58986	broad.mit.edu	37	16	426666	426666	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:426666G>C	uc002cgu.3	-	5	911	c.782C>G	c.(781-783)GCC>GGC	p.A261G	TMEM8A_uc002cgv.3_Missense_Mutation_p.A68G	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	261	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						GGGCCAGGGGGCACCGGTGCA	0.697000												
C16orf11	146325	broad.mit.edu	37	16	614093	614093	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:614093C>T	uc002chk.2	+	2	1078	c.799C>T	c.(799-801)CCG>TCG	p.P267S	NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	hypothetical protein LOC146325	267	Pro-rich.									central_nervous_system(1)	1						CCTGTACTACCCGCTGCTTCT	0.741000												
PIGQ	9091	broad.mit.edu	37	16	632963	632963	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:632963C>T	uc002cho.2	+	10	1714	c.1612C>T	c.(1612-1614)CGC>TGC	p.R538C	PIGQ_uc010bqw.2_Silent_p.G558G|PIGQ_uc002chn.2_Silent_p.G558G|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Missense_Mutation_p.R108C|uc010uuj.1_3'UTR	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	538					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)				ACTCCTGGGGCGCCCTGTGCC	0.657000												
RAB40C	57799	broad.mit.edu	37	16	677527	677527	+	Missense_Mutation	SNP	G	G	A	rs145997805		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:677527G>A	uc002chr.2	+	6	867	c.751G>A	c.(751-753)GGC>AGC	p.G251S	RAB40C_uc002chq.2_Missense_Mutation_p.G232S|WFIKKN1_uc002chs.1_5'Flank	NM_021168	NP_066991	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	251					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0		Hepatocellular(780;0.0218)				CGGGGGCGGCGGCAGCAAGGG	0.647000												
WDR90	197335	broad.mit.edu	37	16	701719	701719	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:701719C>A	uc002cii.1	+	8	866	c.812C>A	c.(811-813)CCA>CAA	p.P271Q	WDR90_uc002cig.1_Missense_Mutation_p.P271Q|WDR90_uc002cih.1_Missense_Mutation_p.P271Q|WDR90_uc002cij.1_RNA	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	271										ovary(1)	1		Hepatocellular(780;0.0218)				AGTGTGTCTCCAGTGGTCCAG	0.642000												
MSLN	10232	broad.mit.edu	37	16	815536	815536	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:815536G>A	uc002cjw.1	+	9	765	c.714G>A	c.(712-714)TCG>TCA	p.S238S	MSLN_uc002cjt.1_Silent_p.S238S|MSLN_uc002cju.1_Silent_p.S238S|MSLN_uc010brd.1_Silent_p.S237S|MSLN_uc002cjv.1_Silent_p.S238S|MSLN_uc002cjx.1_Silent_p.S238S|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	mesothelin isoform 2 preproprotein	238					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				pancreas(1)	1		Hepatocellular(780;0.00335)				GCCCCCCGTCGACATGGTCTG	0.692000												
GNG13	51764	broad.mit.edu	37	16	849007	849007	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:849007C>T	uc002ckh.3	-	2	173	c.71G>A	c.(70-72)CGG>CAG	p.R24Q		NM_016541	NP_057625	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein),	24					cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity				0		Hepatocellular(780;0.00335)				CGCCATCTCCCGCTGGAAGGC	0.597000												
GNPTG	84572	broad.mit.edu	37	16	1412689	1412689	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:1412689G>A	uc002clm.2	+	9	722	c.687G>A	c.(685-687)CAG>CAA	p.Q229Q		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphotransferase, gamma	229						extracellular region|Golgi apparatus	protein binding			central_nervous_system(1)	1		Hepatocellular(780;0.0893)				AACCCACCCAGCTGGAGGGAG	0.567000												
TRAF7	84231	broad.mit.edu	37	16	2223817	2223817	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2223817T>C	uc002cow.2	+	12	1214	c.1115T>C	c.(1114-1116)CTG>CCG	p.L372P		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7	372					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						AACGCGCGGCTGAACATGGGC	0.697000												
CASKIN1	57524	broad.mit.edu	37	16	2239256	2239256	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2239256C>T	uc010bsg.1	-	5	501	c.469G>A	c.(469-471)GAG>AAG	p.E157K		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	157	ANK 4.				signal transduction	cytoplasm				skin(2)	2						CGGCCGAACTCGCAGGCCAGG	0.662000												
BTBD12	84464	broad.mit.edu	37	16	3656526	3656526	+	Missense_Mutation	SNP	G	G	A	rs142739533	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:3656526G>A	uc002cvp.2	-	3	1336	c.709C>T	c.(709-711)CGG>TGG	p.R237W	BTBD12_uc002cvq.1_Missense_Mutation_p.R237W	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	237	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TTTTCTTCCCGCGCAGCCTCG	0.512000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
CREBBP	1387	broad.mit.edu	37	16	3778387	3778387	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:3778387T>C	uc002cvv.2	-	31	6865	c.6661A>G	c.(6661-6663)ATG>GTG	p.M2221V	CREBBP_uc002cvw.2_Missense_Mutation_p.M2183V	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2221					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCCCAGCCATGCCGGCACTC	0.448000			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
SEC14L5	9717	broad.mit.edu	37	16	5038171	5038171	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:5038171G>A	uc002cye.2	+	4	415	c.235G>A	c.(235-237)GTC>ATC	p.V79I		NM_014692	NP_055507	O43304	S14L5_HUMAN	SEC14-like 5	79	PRELI/MSF1.					integral to membrane|intracellular	transporter activity				0						TGAGCACGTGGTCTTCGTGCA	0.627000												
GRIN2A	2903	broad.mit.edu	37	16	9934526	9934526	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:9934526G>A	uc002czo.3	-	7	2177	c.1629C>T	c.(1627-1629)ACC>ACT	p.T543T	GRIN2A_uc010uym.1_Silent_p.T543T|GRIN2A_uc010uyn.1_Silent_p.T386T|GRIN2A_uc002czr.3_Silent_p.T543T	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	543	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGTGAGACGGTGCCATTAC	0.453000												
EMP2	2013	broad.mit.edu	37	16	10631802	10631802	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:10631802A>G	uc002czx.2	-	4	493	c.299T>C	c.(298-300)ATC>ACC	p.I100T		NM_001424	NP_001415	P54851	EMP2_HUMAN	epithelial membrane protein 2	100	Helical; (Potential).				cell proliferation	integral to membrane					0						TAGCTGGATGATGGAGGTTAG	0.537000												
SMG1	23049	broad.mit.edu	37	16	18865138	18865138	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:18865138C>T	uc002dfm.2	-	31	4898	c.4535G>A	c.(4534-4536)TGC>TAC	p.C1512Y	SMG1_uc010bwb.2_Missense_Mutation_p.C1372Y|SMG1_uc010bwa.2_Missense_Mutation_p.C243Y	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1512	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CACAGACTTGCAGAAAGATAT	0.398000												
ITPRIPL2	162073	broad.mit.edu	37	16	19126606	19126606	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:19126606C>T	uc002dfu.3	+	1	1353	c.823C>T	c.(823-825)CGG>TGG	p.R275W	ITPRIPL2_uc002dft.2_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-triphosphate receptor interacting	275	Cytoplasmic (Potential).					integral to membrane				skin(2)	2						GGGGCGCTGTCGGGTCACCTT	0.652000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACSM2B	348158	broad.mit.edu	37	16	20559759	20559759	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:20559759C>T	uc002dhj.3	-	8	1141	c.931G>A	c.(931-933)GCC>ACC	p.A311T	ACSM2B_uc002dhk.3_Missense_Mutation_p.A311T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A311T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	311					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5						ACAATAGGGGCACCCATCATA	0.507000												
DNAH3	55567	broad.mit.edu	37	16	21080738	21080738	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:21080738C>A	uc010vbe.1	-	23	3379	c.3379G>T	c.(3379-3381)GCG>TCG	p.A1127S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1127	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AAACTTACCGCTTGGGACATA	0.393000												
HS3ST2	9956	broad.mit.edu	37	16	22926629	22926629	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:22926629G>A	uc002dli.2	+	2	922	c.850G>A	c.(850-852)GAG>AAG	p.E284K	HS3ST2_uc002dlj.2_RNA	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	heparan sulfate D-glucosaminyl	284	Lumenal (Potential).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(48;0.0299)		CCCGGCCGGCGAGATGGGGCG	0.537000												
KIAA0556	23247	broad.mit.edu	37	16	27788937	27788937	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:27788937G>A	uc002dow.2	+	26	4582	c.4558G>A	c.(4558-4560)GTG>ATG	p.V1520M	KIAA0556_uc010vco.1_Missense_Mutation_p.V22M	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1520								p.V1520V(1)		ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						GCAGCTCCTGGTGGACGACCT	0.507000												
SBK1	388228	broad.mit.edu	37	16	28331595	28331595	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:28331595G>A	uc002dpd.2	+	4	1417	c.628G>A	c.(628-630)GGC>AGC	p.G210S		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	SH3-binding kinase 1	210	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			ovary(1)|kidney(1)	2						GCGCGTGAGCGGCACCATCCC	0.721000												
SPNS1	83985	broad.mit.edu	37	16	28993747	28993747	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:28993747C>T	uc010vdi.1	+	9	1176	c.1036C>T	c.(1036-1038)CGG>TGG	p.R346W	uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.R273W|SPNS1_uc002dsa.2_Missense_Mutation_p.R346W|SPNS1_uc002drz.2_Missense_Mutation_p.R294W|SPNS1_uc010byp.2_Missense_Mutation_p.R272W|SPNS1_uc010byq.1_Missense_Mutation_p.R278W|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 isoform 1	346					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding				0						GATCAGCCGCCGGCTCCGCCA	0.657000												
TAOK2	9344	broad.mit.edu	37	16	29998848	29998848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:29998848G>A	uc002dva.1	+	16	4038	c.3255G>A	c.(3253-3255)TGG>TGA	p.W1085*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Nonsense_Mutation_p.W1092*|TAOK2_uc002dvd.1_Nonsense_Mutation_p.W912*	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	1085					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CTCGACTCTGGTTGCGGGTTC	0.682000												
ZNF629	23361	broad.mit.edu	37	16	30794491	30794491	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:30794491G>A	uc002dzs.1	-	3	1366	c.1158C>T	c.(1156-1158)AGC>AGT	p.S386S		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	386	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GCAACGTGGCGCTCAGGGTGA	0.647000												
ARMC5	79798	broad.mit.edu	37	16	31473647	31473647	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:31473647G>A	uc002ecc.2	+	3	1308	c.779G>A	c.(778-780)CGT>CAT	p.R260H	ARMC5_uc010vfn.1_Missense_Mutation_p.R355H|ARMC5_uc010vfo.1_Missense_Mutation_p.R292H|ARMC5_uc002eca.3_Missense_Mutation_p.R260H|ARMC5_uc010vfp.1_Intron|ARMC5_uc002ecb.2_Missense_Mutation_p.R260H	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	260	ARM 3.						binding			pancreas(1)	1						GCCCTCGTCCGTGCCCTCCTG	0.692000												
ADCY7	113	broad.mit.edu	37	16	50338447	50338447	+	Silent	SNP	C	C	T	rs144290211		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:50338447C>T	uc002egd.1	+	10	1813	c.1545C>T	c.(1543-1545)AAC>AAT	p.N515N	ADCY7_uc002egb.1_Silent_p.N515N|ADCY7_uc002egc.1_Silent_p.N515N	NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	515	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACGTCCCCAACGGGCGGAGGC	0.632000												
CHD9	80205	broad.mit.edu	37	16	53243458	53243458	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:53243458G>T	uc002ehb.2	+	2	1681	c.1517G>T	c.(1516-1518)AGG>ATG	p.R506M	CHD9_uc002egy.2_Missense_Mutation_p.R506M|CHD9_uc002egz.1_Missense_Mutation_p.R506M|CHD9_uc002eha.1_Missense_Mutation_p.R506M|CHD9_uc002ehc.2_Missense_Mutation_p.R506M|CHD9_uc002ehd.2_Missense_Mutation_p.R32M	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	506					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7		all_cancers(37;0.0212)				ACCCAGGTGAGGGTCATGTCT	0.393000												
PLA2G15	23659	broad.mit.edu	37	16	68289217	68289217	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:68289217G>A	uc002evr.2	+	4	519	c.436G>A	c.(436-438)GTG>ATG	p.V146M	PLA2G15_uc010vld.1_Missense_Mutation_p.V146M|PLA2G15_uc010vle.1_Silent_p.L93L|PLA2G15_uc010vlf.1_Intron|PLA2G15_uc002evs.2_Translation_Start_Site	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	lysophospholipase 3 (lysosomal phospholipase A2)	146					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			ovary(1)	1						GGAGAGCCTTGTGGGCTGGGG	0.562000												
ADAMTS18	170692	broad.mit.edu	37	16	77326974	77326974	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:77326974T>C	uc002ffc.3	-	20	3607	c.3188A>G	c.(3187-3189)GAG>GGG	p.E1063G	ADAMTS18_uc010chc.1_Missense_Mutation_p.E651G	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1063	TSP type-1 4.				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						AATCCATACCTCGCTCCACGA	0.363000												
LRRC50	123872	broad.mit.edu	37	16	84183889	84183889	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:84183889G>C	uc002fhl.3	+	3	475	c.294G>C	c.(292-294)AAG>AAC	p.K98N	LRRC50_uc010chi.1_RNA	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	leucine rich repeat containing 50	98			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding				0						AACTCTGCAAGCAGCACAAGC	0.368000									Kartagener_syndrome			
ZCCHC14	23174	broad.mit.edu	37	16	87445525	87445525	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:87445525G>A	uc002fjz.1	-	12	2418	c.2391C>T	c.(2389-2391)TGC>TGT	p.C797C	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.C573C	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	797					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTCGAGCCGCAGCTGCCGC	0.612000												
PITPNA	5306	broad.mit.edu	37	17	1442213	1442213	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:1442213C>T	uc002fst.3	-	6	662	c.406G>A	c.(406-408)GTG>ATG	p.V136M	PITPNA_uc010cjt.2_Missense_Mutation_p.V20M|PITPNA_uc010cju.2_Missense_Mutation_p.V34M	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	136					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	p.V136M(1)		ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		ACGGCTTCCACGTGTTTCCAC	0.473000												
KIAA0664	23277	broad.mit.edu	37	17	2594035	2594035	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:2594035C>T	uc002fuy.1	-	26	3869	c.3783G>A	c.(3781-3783)GCG>GCA	p.A1261A	KIAA0664_uc002fux.1_Silent_p.A1194A|KIAA0664_uc010ckc.1_3'UTR	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	1261							binding			breast(2)	2						GGTGCCGCCGCGCCACCTCGG	0.672000												
ARHGEF15	22899	broad.mit.edu	37	17	8219155	8219155	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:8219155G>T	uc002glc.2	+	8	1625	c.1504G>T	c.(1504-1506)GGG>TGG	p.G502W	ARHGEF15_uc002gld.2_Missense_Mutation_p.G502W|ARHGEF15_uc010vuw.1_Missense_Mutation_p.G391W	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	502	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CCACGCTGTGGGGCCTTTCTC	0.582000												
ODF4	146852	broad.mit.edu	37	17	8243654	8243654	+	Silent	SNP	A	A	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:8243654A>T	uc002gle.1	+	1	467	c.285A>T	c.(283-285)CTA>CTT	p.L95L		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	95	Helical; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)	1						TTATCCTACTATTGGTCGTGG	0.557000												
MYH4	4622	broad.mit.edu	37	17	10346710	10346710	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:10346710T>A	uc002gmn.2	-	40	5913	c.5802A>T	c.(5800-5802)AAA>AAT	p.K1934N	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1934	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CACTTATGACTTTTGTGTGAA	0.443000												
MYH3	4621	broad.mit.edu	37	17	10532982	10532982	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:10532982G>A	uc002gmq.1	-	39	5805	c.5728C>T	c.(5728-5730)CGT>TGT	p.R1910C		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1910	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7						ATATCCGCACGTTCCTCGGCC	0.557000												
ZNF287	57336	broad.mit.edu	37	17	16467045	16467045	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:16467045G>A	uc002gqi.2	-	4	1049	c.596C>T	c.(595-597)ACG>ATG	p.T199M		NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	zinc finger protein 287	192	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTCTGTAACGTCACAGTCTT	0.458000												
CYTSB	92521	broad.mit.edu	37	17	19999968	19999968	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:19999968C>T	uc002gwq.2	+	2	149	c.4C>T	c.(4-6)CGG>TGG	p.R2W	CYTSB_uc010cqx.2_Missense_Mutation_p.R2W|CYTSB_uc002gwr.2_Missense_Mutation_p.R2W|CYTSB_uc002gws.2_Missense_Mutation_p.R2W	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	2						nucleus					0						GTCAAGCATGCGGAGTGCAGC	0.572000												
CYTSB	92521	broad.mit.edu	37	17	20013849	20013849	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:20013849C>T	uc002gwq.2	+	3	402	c.257C>T	c.(256-258)ACG>ATG	p.T86M	CYTSB_uc010cqx.2_Missense_Mutation_p.T86M|CYTSB_uc002gwr.2_Missense_Mutation_p.T86M|CYTSB_uc002gws.2_Missense_Mutation_p.T86M	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	86						nucleus					0						TCGGAGCTCACGGAGAGCCGC	0.652000												
MAP2K3	5606	broad.mit.edu	37	17	21203933	21203933	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:21203933T>C	uc002gys.2	+	4	507	c.242T>C	c.(241-243)GTG>GCG	p.V81A	MAP2K3_uc002gyt.2_Missense_Mutation_p.V52A|MAP2K3_uc002gyu.2_Missense_Mutation_p.V52A	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	81	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GTAGAGAAGGTGCGGCACGCC	0.612000												
ZNF207	7756	broad.mit.edu	37	17	30687623	30687623	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:30687623A>G	uc002hhh.3	+	4	462	c.314A>G	c.(313-315)CAA>CGA	p.Q105R	ZNF207_uc002hhj.3_Missense_Mutation_p.Q105R|ZNF207_uc002hhi.3_Missense_Mutation_p.Q105R|ZNF207_uc010csz.2_Missense_Mutation_p.Q108R|ZNF207_uc002hhk.1_Missense_Mutation_p.Q105R|ZNF207_uc002hhl.1_RNA	NM_003457	NP_003448	O43670	ZN207_HUMAN	zinc finger protein 207 isoform a	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAGAAAGTCAAAAAAAGAAG	0.294000												
MYO1D	4642	broad.mit.edu	37	17	31048195	31048195	+	Missense_Mutation	SNP	C	C	T	rs143604215		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:31048195C>T	uc002hho.1	-	15	1771	c.1759G>A	c.(1759-1761)GTT>ATT	p.V587I	MYO1D_uc002hhp.1_Missense_Mutation_p.V587I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	587	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATGCAACGAACGTAATATGGT	0.383000												
SLFN5	162394	broad.mit.edu	37	17	33591296	33591296	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:33591296G>A	uc002hjf.3	+	4	1350	c.1233G>A	c.(1231-1233)ATG>ATA	p.M411I	SLFN5_uc010wcg.1_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	411					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATACAGAAATGCGCCCTTTCT	0.398000												
GPR179	440435	broad.mit.edu	37	17	36482500	36482500	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:36482500G>T	uc002hpz.2	-	11	6973	c.6952C>A	c.(6952-6954)CTT>ATT	p.L2318I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2318	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGGCTCAAGCCCTGAAGGT	0.517000												
GPR179	440435	broad.mit.edu	37	17	36484966	36484966	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:36484966C>A	uc002hpz.2	-	11	4507	c.4486G>T	c.(4486-4488)GGG>TGG	p.G1496W		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1496	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTACCTGTCCCCAGACTCAGC	0.493000												
GRB7	2886	broad.mit.edu	37	17	37898611	37898611	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:37898611A>G	uc002hsr.2	+	2	307	c.57A>G	c.(55-57)CCA>CCG	p.P19P	GRB7_uc002hss.2_Silent_p.P19P|GRB7_uc010cwc.2_Silent_p.P19P|GRB7_uc002hst.2_Silent_p.P19P	NM_005310	NP_005301	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	19					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACCTTTGCCCAGCCCCTGGGA	0.622000												
KRT23	25984	broad.mit.edu	37	17	39092584	39092584	+	Missense_Mutation	SNP	C	C	T	rs148131200	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:39092584C>T	uc002hvm.1	-	2	861	c.272G>A	c.(271-273)CGC>CAC	p.R91H	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Missense_Mutation_p.R91H|KRT23_uc002hvn.1_Missense_Mutation_p.R91H	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	keratin 23	91	Rod.|Coil 1A.					intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)|Ovarian(249;0.15)				CTCCAGGGCGCGAACCTTCTC	0.552000												
PLCD3	113026	broad.mit.edu	37	17	43196353	43196353	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:43196353G>A	uc002iib.2	-	5	856	c.742C>T	c.(742-744)CGG>TGG	p.R248W		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	phospholipase C delta 3	248	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|lung(1)	3					Phosphatidylserine(DB00144)	AGCAGCCGCCGCAGGAACTCC	0.632000												
MBTD1	54799	broad.mit.edu	37	17	49270274	49270274	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:49270274C>T	uc002itr.3	-	15	1903	c.1559G>A	c.(1558-1560)CGT>CAT	p.R520H	MBTD1_uc002itp.3_Missense_Mutation_p.R356H|MBTD1_uc002itq.3_3'UTR	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	520	MBT 4.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCTCAAGAGACGATGAATAAT	0.423000												
TRIM37	4591	broad.mit.edu	37	17	57165734	57165734	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:57165734G>A	uc002iwy.3	-	4	643	c.199C>T	c.(199-201)CGT>TGT	p.R67C	TRIM37_uc002iwz.3_Missense_Mutation_p.R67C|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Missense_Mutation_p.R33C	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	67						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCTGCCCAACGACAATTTACT	0.368000									Mulibrey_Nanism			
SKA2	348235	broad.mit.edu	37	17	57189649	57189649	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:57189649G>A	uc002ixd.2	-	4	631	c.355C>T	c.(355-357)CCA>TCA	p.P119S	uc002ixb.2_Intron|SKA2_uc002ixc.2_RNA|SKA2_uc010dde.1_3'UTR|SKA2_uc002ixe.2_RNA	NM_182620	NP_872426	Q8WVK7	SKA2_HUMAN	spindle and KT associated 2 isoform 1	119					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding				0						CATAAATCTGGCATGTGAAAT	0.338000												
C17orf71	55181	broad.mit.edu	37	17	57290392	57290392	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:57290392C>T	uc002ixi.2	+	3	2250	c.2208C>T	c.(2206-2208)TTC>TTT	p.F736F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	736					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding				0	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					GGCCAAACTTCGTTGATCGAC	0.458000												
APPBP2	10513	broad.mit.edu	37	17	58539239	58539239	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:58539239T>C	uc002iys.1	-	8	1156	c.868A>G	c.(868-870)ACA>GCA	p.T290A	APPBP2_uc010ddl.1_Missense_Mutation_p.T219A	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	290	TPR 4.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TCTAGCAGTGTATCAGAATAT	0.289000												
BCAS3	54828	broad.mit.edu	37	17	59155774	59155774	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:59155774A>G	uc002iyv.3	+	22	2365	c.2256A>G	c.(2254-2256)TCA>TCG	p.S752S	BCAS3_uc002iyu.3_Silent_p.S737S|BCAS3_uc002iyw.3_Silent_p.S733S|BCAS3_uc002iyy.3_Silent_p.S508S|BCAS3_uc002iyz.3_Silent_p.S306S|BCAS3_uc002iza.3_Silent_p.S291S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	752						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TCCATCCCTCAGGCCAAACCA	0.473000												
TBX4	9496	broad.mit.edu	37	17	59560530	59560530	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:59560530G>A	uc002izi.2	+	8	1336	c.1291G>A	c.(1291-1293)GTG>ATG	p.V431M	TBX4_uc010ddo.2_Missense_Mutation_p.V432M|TBX4_uc010woy.1_Missense_Mutation_p.V432M	NM_018488	NP_060958	P57082	TBX4_HUMAN	T-box 4	431					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2						CAGCTATAGCGTGCAGACGAT	0.647000												
PSMC5	5705	broad.mit.edu	37	17	61907223	61907223	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:61907223C>T	uc002jcb.2	+	4	219	c.178C>T	c.(178-180)CGG>TGG	p.R60W	FTSJ3_uc002jbz.2_5'Flank|FTSJ3_uc002jca.2_5'Flank|PSMC5_uc010ddy.2_Missense_Mutation_p.R37W|PSMC5_uc010ddz.2_5'UTR|PSMC5_uc002jcc.2_Missense_Mutation_p.R52W|PSMC5_uc002jcd.2_Missense_Mutation_p.R52W	NM_002805	NP_002796	P62195	PRS8_HUMAN	proteasome 26S ATPase subunit 5	60			R -> Q (in a colorectal cancer sample; somatic mutation).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	p.R60Q(1)		large_intestine(1)	1						TCGCCTATTGCGGGAGGAGCT	0.522000												
ABCA9	10350	broad.mit.edu	37	17	67013900	67013900	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:67013900A>C	uc002jhu.2	-	21	2941	c.2798T>G	c.(2797-2799)CTG>CGG	p.L933R	ABCA9_uc010dez.2_Missense_Mutation_p.L933R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	933					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CTGTCGCCTCAGTGAATGTAA	0.353000												
C17orf80	55028	broad.mit.edu	37	17	71232728	71232728	+	Silent	SNP	G	G	A	rs35997714	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:71232728G>A	uc002jjm.3	+	3	1301	c.1107G>A	c.(1105-1107)TCG>TCA	p.S369S	C17orf80_uc010wqu.1_Silent_p.S369S|C17orf80_uc010dfj.2_Silent_p.S369S|C17orf80_uc002jjk.1_Silent_p.S369S|C17orf80_uc002jjl.3_Silent_p.S369S	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	lung cancer-related protein 8 isoform a	369	Extracellular (Potential).					integral to membrane				skin(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)			ATTCTGTATCGCAGTCAAGTA	0.433000												
GALR2	8811	broad.mit.edu	37	17	74072932	74072932	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:74072932G>A	uc002jqm.1	+	2	665	c.584G>A	c.(583-585)AGC>AAC	p.S195N	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	galanin receptor 2	195	Helical; Name=5; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						TTCGTCTTCAGCTACCTGCTT	0.701000												
RHBDF2	79651	broad.mit.edu	37	17	74473082	74473082	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:74473082G>A	uc002jrq.1	-	9	1325	c.1032C>T	c.(1030-1032)GTC>GTT	p.V344V	RHBDF2_uc002jrp.1_Silent_p.V315V|RHBDF2_uc002jrr.1_Silent_p.V196V|RHBDF2_uc010wtf.1_Silent_p.V315V|RHBDF2_uc002jrs.1_Silent_p.V339V	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	rhomboid, veinlet-like 6 isoform 1	344	Cytoplasmic (Potential).				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity				0						GGGGCCCGGGGACTGGGGCTC	0.647000												
SYNGR2	9144	broad.mit.edu	37	17	76167919	76167919	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:76167919G>A	uc002juu.1	+	4	604	c.577G>A	c.(577-579)GCC>ACC	p.A193T	SYNGR2_uc002jut.2_Silent_p.T222T|SYNGR2_uc002juv.1_3'UTR|SYNGR2_uc010dhi.1_RNA	NM_004710	NP_004701	O43760	SNG2_HUMAN	synaptogyrin 2	193						integral to plasma membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CACTGCCTACGCCTCCTACCC	0.627000												
USP36	57602	broad.mit.edu	37	17	76831482	76831482	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:76831482G>A	uc002jvz.1	-	4	680	c.355C>T	c.(355-357)CGC>TGC	p.R119C	USP36_uc002jwa.1_Missense_Mutation_p.R119C|USP36_uc002jwd.1_Missense_Mutation_p.R119C	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	119					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCGCCCACGCGGAAGACCCGC	0.592000												
CCDC40	55036	broad.mit.edu	37	17	78055376	78055376	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:78055376G>A	uc010dht.2	+	11	1621	c.1594G>A	c.(1594-1596)GGC>AGC	p.G532S	CCDC40_uc002jxm.3_Missense_Mutation_p.G315S|CCDC40_uc002jxn.3_5'UTR	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	532	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCCACCGACGGCGAGATTGA	0.542000												
AATK	9625	broad.mit.edu	37	17	79108177	79108177	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:79108177G>A	uc010dia.2	-	2	260	c.180C>T	c.(178-180)ATC>ATT	p.I60I	MIR1250_hsa-mir-1250|MI0006385_5'Flank	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	60				MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2).		integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCTTGAACCCGATACCGCCCT	0.657000												
SLC16A3	9123	broad.mit.edu	37	17	80195528	80195528	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:80195528C>T	uc002kea.2	+	4	1021	c.882C>T	c.(880-882)TCC>TCT	p.S294S	SLC16A3_uc002kee.2_Silent_p.S294S|SLC16A3_uc002keb.2_Silent_p.S294S|SLC16A3_uc002kec.2_Silent_p.S294S|SLC16A3_uc002ked.2_Silent_p.S294S	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	solute carrier family 16, member 3	294	Cytoplasmic (Potential).				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			upper_aerodigestive_tract(1)|lung(1)	2	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	GGCCCTACTCCGTCTACCTCT	0.652000												
ENOSF1	55556	broad.mit.edu	37	18	683370	683370	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:683370G>C	uc002kku.3	-	11	827	c.752C>G	c.(751-753)GCC>GGC	p.A251G	ENOSF1_uc002kkt.3_Missense_Mutation_p.A169G|ENOSF1_uc010dke.2_RNA|ENOSF1_uc010dkf.2_Missense_Mutation_p.A272G|ENOSF1_uc002kkv.3_Missense_Mutation_p.A238G|ENOSF1_uc002kkw.3_Missense_Mutation_p.A70G|ENOSF1_uc002kkx.3_Missense_Mutation_p.A175G	NM_017512	NP_059982	Q7L5Y1	ENOF1_HUMAN	enolase superfamily 1 isoform rTS beta	251					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			ovary(1)	1						GCGCTGGTTGGCATCCATCAT	0.572000												
TGIF1	7050	broad.mit.edu	37	18	3452124	3452124	+	Silent	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:3452124C>A	uc002klz.2	+	1	534	c.147C>A	c.(145-147)TCC>TCA	p.S49S	TGIF1_uc002klu.2_Intron|TGIF1_uc002klv.2_Intron|TGIF1_uc002klx.2_Intron|TGIF1_uc002klw.2_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.2_Intron|TGIF1_uc002kma.2_Intron|TGIF1_uc002kmb.2_5'Flank	NM_170695	NP_733796	Q15583	TGIF1_HUMAN	TG-interacting factor isoform a	49					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TTCTGGCGTCCCCCCGACTCT	0.701000												
ZNF519	162655	broad.mit.edu	37	18	14106215	14106215	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:14106215A>G	uc002kst.1	-	3	477	c.324T>C	c.(322-324)AGT>AGC	p.S108S	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTTTGTTATGACTAGTTGTCA	0.348000												
RIOK3	8780	broad.mit.edu	37	18	21053585	21053585	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:21053585C>T	uc002kui.3	+	8	1625	c.1008C>T	c.(1006-1008)CTC>CTT	p.L336L	RIOK3_uc010dls.2_Silent_p.L336L|RIOK3_uc010xas.1_Silent_p.L320L|RIOK3_uc010xat.1_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	sudD suppressor of bimD6 homolog	336	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCACAATCTCGCAAGGTAAA	0.318000												
LAMA3	3909	broad.mit.edu	37	18	21426421	21426421	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:21426421C>T	uc002kuq.2	+	31	3966	c.3880C>T	c.(3880-3882)CGG>TGG	p.R1294W	LAMA3_uc002kur.2_Missense_Mutation_p.R1294W	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1294	Laminin EGF-like 9.|Domain III B.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTCATCGGGCGGCAGTGCAC	0.657000												
DSG2	1829	broad.mit.edu	37	18	29101199	29101199	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:29101199T>C	uc002kwu.3	+	5	704	c.516T>C	c.(514-516)AGT>AGC	p.S172S		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	172	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AAGAGTTGAGTGCAGCACGTA	0.328000												
MEP1B	4225	broad.mit.edu	37	18	29784177	29784177	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:29784177G>A	uc002kxj.3	+	7	448	c.401G>A	c.(400-402)GGG>GAG	p.G134E		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	134	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AGGCGGGTTGGGAAGCAAGAA	0.507000												
ST8SIA5	29906	broad.mit.edu	37	18	44272146	44272146	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:44272146C>T	uc002lcj.1	-	3	865	c.297G>A	c.(295-297)GAG>GAA	p.E99E	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc010xcy.1_Silent_p.E135E|ST8SIA5_uc010xcz.1_Silent_p.E68E|ST8SIA5_uc010dno.1_Silent_p.E135E	NM_013305	NP_037437	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide	99	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						ACTGGTTGGCCTCAGAGATGT	0.512000												
MBD1	4152	broad.mit.edu	37	18	47803200	47803200	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:47803200A>G	uc010dow.1	-	4	829	c.392_splice	c.e4+1	p.G131_splice	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_Splice_Site_p.G131_splice|MBD1_uc010xdi.1_Splice_Site_p.G157_splice|MBD1_uc002leh.3_Splice_Site_p.G131_splice|MBD1_uc002len.2_Splice_Site_p.G131_splice|MBD1_uc002lei.3_Splice_Site_p.G131_splice|MBD1_uc002lej.3_Splice_Site_p.G131_splice|MBD1_uc002lek.3_Splice_Site_p.G131_splice|MBD1_uc002lel.3_Splice_Site_p.G131_splice|MBD1_uc002lem.3_Splice_Site_p.G131_splice|MBD1_uc010xdj.1_Splice_Site_p.G131_splice|MBD1_uc010xdk.1_Splice_Site_p.G131_splice|MBD1_uc010dox.1_Splice_Site_p.G131_splice|MBD1_uc002leo.2_Splice_Site_p.G131_splice	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						ACCAACACTCACCCAGGAGCA	0.597000												
ONECUT2	9480	broad.mit.edu	37	18	55103659	55103659	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:55103659C>T	uc002lgo.2	+	1	743	c.711C>T	c.(709-711)GGC>GGT	p.G237G		NM_004852	NP_004843	O95948	ONEC2_HUMAN	one cut domain, family member 2	237					organ morphogenesis	nucleus	sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ACGGGCTAGGCGGCCTCCACA	0.657000												
FBXO15	201456	broad.mit.edu	37	18	71796740	71796740	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:71796740A>G	uc002lle.2	-	5	793	c.457T>C	c.(457-459)TAT>CAT	p.Y153H	FBXO15_uc002llf.2_Missense_Mutation_p.Y229H	NM_152676	NP_689889	Q8NCQ5	FBX15_HUMAN	F-box protein 15 isoform 1	153										ovary(2)|pancreas(1)	3		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTTTTGCCATACCATATAACA	0.368000												
UQCR11	10975	broad.mit.edu	37	19	1599523	1599523	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:1599523G>A	uc002ltm.2	-	2	110	c.87C>T	c.(85-87)GCC>GCT	p.A29A		NM_006830	NP_006821	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, 6.4kDa	29	Helical; (Potential).				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			ovary(1)|breast(1)	2						CCAGCCCCACGGCGCCCACAG	0.587000												
GNA11	2767	broad.mit.edu	37	19	3110205	3110205	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:3110205C>T	uc002lxd.2	+	2	437	c.195C>T	c.(193-195)GCC>GCT	p.A65A		NM_002067	NP_002058	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein),	65					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			eye(70)|skin(16)	86		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCACGGCGCCGGCTACTCGG	0.662000			Mis		uveal melanoma							
C19orf29	58509	broad.mit.edu	37	19	3613305	3613305	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:3613305C>T	uc002lyh.2	-	9	1590	c.1537G>A	c.(1537-1539)GCG>ACG	p.A513T	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Missense_Mutation_p.A361T|C19orf29_uc002lyi.3_Missense_Mutation_p.A513T|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	513						catalytic step 2 spliceosome	protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCCTCCGCGGGGCCGCCC	0.781000												
UBXN6	80700	broad.mit.edu	37	19	4453490	4453490	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:4453490C>T	uc002man.1	-	3	373	c.277G>A	c.(277-279)GTC>ATC	p.V93I	UBXN6_uc010dty.1_Missense_Mutation_p.V40I|UBXN6_uc002mam.1_Missense_Mutation_p.V40I	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	93						microtubule organizing center|nucleus	protein binding				0						CTCCCGCTGACGGTGGCTTCG	0.632000												
PNPLA6	10908	broad.mit.edu	37	19	7607930	7607930	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:7607930A>G	uc010xjq.1	+	15	1790	c.1595A>G	c.(1594-1596)CAC>CGC	p.H532R	PNPLA6_uc002mgq.1_Missense_Mutation_p.H484R|PNPLA6_uc010xjp.1_Intron|PNPLA6_uc002mgr.1_Missense_Mutation_p.H484R|PNPLA6_uc002mgs.2_Missense_Mutation_p.H523R	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	523	cNMP 2.|Cytoplasmic (Potential).				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3						TTGCTGCACCACGCCAAAGCT	0.627000												
HNRNPM	4670	broad.mit.edu	37	19	8530239	8530239	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:8530239T>C	uc010dwe.2	+	6	550	c.470T>C	c.(469-471)ATG>ACG	p.M157T	HNRNPM_uc010dwc.1_Missense_Mutation_p.M157T|HNRNPM_uc010xke.1_Missense_Mutation_p.M157T|HNRNPM_uc010dwd.2_Missense_Mutation_p.M157T|HNRNPM_uc002mka.2_Missense_Mutation_p.M37T	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	157					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						AGGAGAGCAATGCAAAAGGTG	0.473000												
PRAM1	84106	broad.mit.edu	37	19	8556025	8556025	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:8556025A>G	uc002mkd.2	-	5	1613	c.1593T>C	c.(1591-1593)GTT>GTC	p.V531V	PRAM1_uc002mkc.2_Silent_p.V530V	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	579							lipid binding|protein binding				0						CGGCTTGCTGAACTGAGGGCG	0.612000												
MUC16	94025	broad.mit.edu	37	19	8993492	8993492	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:8993492G>T	uc002mkp.2	-	66	41801	c.41597C>A	c.(41596-41598)CCT>CAT	p.P13866H	MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.P683H|MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTGGGGTCAGGGCGGTGGGT	0.592000												
MUC16	94025	broad.mit.edu	37	19	9069762	9069762	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9069762T>C	uc002mkp.2	-	3	17888	c.17684A>G	c.(17683-17685)CAG>CGG	p.Q5895R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5897	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						TGGAAATCTCTGAGTCACAGG	0.512000												
ZNF699	374879	broad.mit.edu	37	19	9408627	9408627	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9408627T>A	uc002mlc.1	-	3	215	c.215A>T	c.(214-216)GAA>GTA	p.E72V		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTCCTCTTGTTCCCACTGGGA	0.488000												
ZNF562	54811	broad.mit.edu	37	19	9763836	9763836	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9763836G>A	uc010xks.1	-	6	1233	c.1070C>T	c.(1069-1071)ACG>ATG	p.T357M	ZNF562_uc002mly.2_Missense_Mutation_p.T357M|ZNF562_uc002mlx.2_Missense_Mutation_p.T285M|ZNF562_uc010xkt.1_Missense_Mutation_p.T320M|ZNF562_uc010xku.1_Missense_Mutation_p.T288M|ZNF562_uc010xkv.1_Missense_Mutation_p.T356M|ZNF562_uc010xkw.1_Missense_Mutation_p.T241M	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	357	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCAAGGCCCGTGTACTGAGT	0.428000												
ZNF846	162993	broad.mit.edu	37	19	9868448	9868448	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:9868448C>T	uc002mmb.1	-	6	1836	c.1305G>A	c.(1303-1305)TCG>TCA	p.S435S	ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Silent_p.S306S	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	435	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TACTAAGGCCCGAGGATTGAG	0.408000												
MRPL4	51073	broad.mit.edu	37	19	10368906	10368906	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:10368906G>A	uc002mnm.2	+	7	608	c.454G>A	c.(454-456)GCC>ACC	p.A152T	MRPL4_uc002mnn.2_Missense_Mutation_p.A152T|MRPL4_uc002mno.2_Missense_Mutation_p.A152T	NM_146387	NP_666499	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4 isoform a	152					translation	mitochondrion|ribosome	structural constituent of ribosome			ovary(1)	1		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		AGGAGGTGTTGCCCATGGCCC	0.637000												
ILF3	3609	broad.mit.edu	37	19	10794602	10794602	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:10794602A>G	uc002mpn.2	+	17	2332	c.2015A>G	c.(2014-2016)TAT>TGT	p.Y672C	ILF3_uc002mpm.2_Missense_Mutation_p.Y676C|ILF3_uc002mpl.2_Missense_Mutation_p.Y672C|ILF3_uc002mpk.2_Missense_Mutation_p.Y672C|ILF3_uc010xli.1_Missense_Mutation_p.Y270C|ILF3_uc002mpo.2_Missense_Mutation_p.Y676C|ILF3_uc002mpp.2_Missense_Mutation_p.Y497C|ILF3_uc002mpq.2_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	672	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGTGCTGGGTATGGAAGCTAT	0.592000												
RGL3	57139	broad.mit.edu	37	19	11505106	11505106	+	Missense_Mutation	SNP	C	C	T	rs142089258		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:11505106C>T	uc002mrp.2	-	19	2169	c.2105G>A	c.(2104-2106)CGG>CAG	p.R702Q	RGL3_uc002mrn.2_Intron|RGL3_uc002mrm.2_Intron|RGL3_uc002mro.2_Missense_Mutation_p.R708Q	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	702	Interaction with HRAS, MRAS and RIT1 (By similarity).				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1						CAGAGTGTTCCGGGTCCCCTC	0.577000												
MAST1	22983	broad.mit.edu	37	19	12978559	12978559	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:12978559G>A	uc002mvm.2	+	20	2462	c.2334G>A	c.(2332-2334)GCG>GCA	p.A778A		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase	778					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						GATTCTCCGCGTCCGAGGCCA	0.687000												
LPHN1	22859	broad.mit.edu	37	19	14288489	14288489	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:14288489G>A	uc010xnn.1	-	3	434	c.138C>T	c.(136-138)ATC>ATT	p.I46I	LPHN1_uc010xno.1_Silent_p.I46I	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	46	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						ACCGCAGCTCGATGGGGTAGC	0.652000												
PLVAP	83483	broad.mit.edu	37	19	17488022	17488022	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:17488022G>A	uc002ngk.1	-	1	126	c.76C>T	c.(76-78)CGC>TGC	p.R26C		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	26	Cytoplasmic (Potential).					caveola|integral to membrane|perinuclear region of cytoplasm					0						AAGAAGTAGCGCAGGTAATAC	0.607000												
FAM129C	199786	broad.mit.edu	37	19	17651282	17651282	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:17651282G>A	uc010xpr.1	+	10	1292	c.1154G>A	c.(1153-1155)CGC>CAC	p.R385H	FAM129C_uc010xpq.1_Missense_Mutation_p.R385H|FAM129C_uc002ngy.3_Missense_Mutation_p.R111H|FAM129C_uc010xpu.1_Missense_Mutation_p.R111H|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.R111H|FAM129C_uc002nhb.2_5'UTR	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	B-cell novel protein 1 isoform a	385											0						ACCCTGCTGCGCACCGTGGAA	0.711000												
SF4	57794	broad.mit.edu	37	19	19390193	19390193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:19390193G>A	uc002nmh.2	-	10	1359	c.1357C>T	c.(1357-1359)CAG>TAG	p.Q453*	SF4_uc002nmf.2_Nonsense_Mutation_p.Q3*|SF4_uc002nmg.2_Nonsense_Mutation_p.Q3*|SF4_uc002nmi.2_Nonsense_Mutation_p.Q243*|SF4_uc002nmj.2_Nonsense_Mutation_p.Q243*|SF4_uc002nme.2_Nonsense_Mutation_p.Q3*	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	453	Gln/Met-rich.				nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0						TCGTACATCTGCTGCATCTGC	0.647000												
ZNF43	7594	broad.mit.edu	37	19	21991363	21991363	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:21991363G>A	uc002nqj.2	-	4	1606	c.1476C>T	c.(1474-1476)AGC>AGT	p.S492S	ZNF43_uc010ecv.2_Silent_p.S486S|ZNF43_uc002nql.2_Silent_p.S486S|ZNF43_uc002nqm.2_Silent_p.S486S|ZNF43_uc002nqk.2_Silent_p.S422S	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	492	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGAGGACCGGCTAAAAGCTT	0.373000												
PLEKHF1	79156	broad.mit.edu	37	19	30164800	30164800	+	Silent	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30164800G>T	uc002nsh.3	+	2	156	c.54G>T	c.(52-54)GTG>GTT	p.V18V	PLEKHF1_uc002nsi.3_Silent_p.V103V	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	18					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TCGCGGCAGTGGAGAGCTGCT	0.662000												
PLEKHF1	79156	broad.mit.edu	37	19	30165237	30165237	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30165237C>T	uc002nsh.3	+	2	593	c.491C>T	c.(490-492)ACG>ATG	p.T164M	PLEKHF1_uc002nsi.3_Missense_Mutation_p.T249M	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	apoptosis-inducing protein D	164	FYVE-type.				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TGCACGCAGACGCGCTTCTCT	0.721000												
C19orf2	8725	broad.mit.edu	37	19	30503219	30503219	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30503219A>T	uc002nsr.2	+	10	1236	c.1206A>T	c.(1204-1206)GAA>GAT	p.E402D	C19orf2_uc002nsq.2_Missense_Mutation_p.E384D|C19orf2_uc002nss.2_Missense_Mutation_p.E362D|C19orf2_uc002nst.2_Missense_Mutation_p.E326D	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	402					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		TGAATGGAGAATATGTCCCTC	0.393000												
ZNF536	9745	broad.mit.edu	37	19	30935268	30935268	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:30935268G>A	uc002nsu.1	+	2	937	c.799G>A	c.(799-801)GCG>ACG	p.A267T	ZNF536_uc010edd.1_Missense_Mutation_p.A267T	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					GCAGGAGGACGCGGTGGCCCC	0.697000												
NPHS1	4868	broad.mit.edu	37	19	36340035	36340035	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:36340035C>T	uc002oby.2	-	8	855	c.855G>A	c.(853-855)GTG>GTA	p.V285V		NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	285	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACGCTGTGGACACCGGCTGGC	0.677000												
ARHGEF1	9138	broad.mit.edu	37	19	42410639	42410639	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:42410639C>T	uc002orx.2	+	27	2631	c.2522C>T	c.(2521-2523)GCG>GTG	p.A841V	ARHGEF1_uc002ory.2_Missense_Mutation_p.A808V|ARHGEF1_uc002orz.2_Missense_Mutation_p.A679V|ARHGEF1_uc002osa.2_Missense_Mutation_p.A856V|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.A500V|ARHGEF1_uc002ose.2_Missense_Mutation_p.A285V	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	841					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CTGTTTCCGGCGGAGGAAGAC	0.672000												
ERF	2077	broad.mit.edu	37	19	42754583	42754583	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:42754583C>T	uc002ote.3	-	2	315	c.157G>A	c.(157-159)GGG>AGG	p.G53R	ERF_uc002otd.3_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Ets2 repressor factor	53	ETS.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4		Prostate(69;0.00682)				ACGAATTCCCCGTAGTCCCCC	0.617000												
TMEM145	284339	broad.mit.edu	37	19	42819216	42819216	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:42819216C>T	uc002otk.1	+	6	544	c.492C>T	c.(490-492)TCC>TCT	p.S164S		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	164						integral to membrane					0		Prostate(69;0.00682)				GACACTTCTCCGCTGATGAGT	0.582000												
PSG8	440533	broad.mit.edu	37	19	43269833	43269833	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:43269833G>A	uc002ouo.2	-	1	1	c.-97_splice	c.e1-1		PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc002oui.2_Splice_Site|PSG8_uc002ouh.2_Splice_Site|PSG8_uc010ein.2_Splice_Site|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Intron|PSG8_uc002oul.3_Intron|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform							extracellular region					0		Prostate(69;0.00899)				CTCCTTCTGCGCTGAGCTTCT	0.602000												
PLAUR	5329	broad.mit.edu	37	19	44156377	44156377	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:44156377C>T	uc002oxf.1	-	6	984	c.754G>A	c.(754-756)GAA>AAA	p.E252K	PLAUR_uc002oxd.1_Missense_Mutation_p.E252K|PLAUR_uc002oxe.1_Missense_Mutation_p.E247K|PLAUR_uc002oxg.1_Missense_Mutation_p.E207K	NM_002659	NP_002650	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	252	UPAR/Ly6 3.			E -> G (in Ref. 12; AAF71751).	attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			ovary(1)	1		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGGGCCTCACCGTGAGTGCCG	0.557000											OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF283	284349	broad.mit.edu	37	19	44352729	44352729	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:44352729G>A	uc002oxr.3	+	7	2244	c.1976G>A	c.(1975-1977)TGT>TAT	p.C659Y	ZNF283_uc002oxp.3_Missense_Mutation_p.C520Y	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				TATAACGAATGTGGGGAAGCC	0.343000												
PPP1R13L	10848	broad.mit.edu	37	19	45895249	45895249	+	Silent	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:45895249G>T	uc002pbn.2	-	8	1781	c.1704C>A	c.(1702-1704)CCC>CCA	p.P568P	PPP1R13L_uc002pbm.2_Silent_p.P147P|PPP1R13L_uc002pbo.2_Silent_p.P568P	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	568	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)		CCTCAGTGATGGGGGACAGCT	0.692000												
PRKD2	25865	broad.mit.edu	37	19	47181830	47181830	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:47181830C>T	uc002pfh.2	-	17	2503	c.2161G>A	c.(2161-2163)GAG>AAG	p.E721K	PRKD2_uc002pfd.2_Missense_Mutation_p.E95K|PRKD2_uc010eks.2_Missense_Mutation_p.E124K|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.E241K|PRKD2_uc002pff.2_Missense_Mutation_p.E241K|PRKD2_uc002pfg.2_Missense_Mutation_p.E564K|PRKD2_uc002pfi.2_Missense_Mutation_p.E721K|PRKD2_uc002pfj.2_Missense_Mutation_p.E721K|PRKD2_uc010xye.1_Missense_Mutation_p.E721K|PRKD2_uc002pfk.2_Missense_Mutation_p.E564K	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	721	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGCAGCACCTCGGGTGCCAGG	0.617000												
RASIP1	54922	broad.mit.edu	37	19	49238619	49238619	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49238619C>T	uc002pki.2	-	4	1210	c.1013G>A	c.(1012-1014)CGG>CAG	p.R338Q		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	338					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTCCTGCTGCCGCCGCCGCCG	0.657000												
CCDC155	147872	broad.mit.edu	37	19	49897748	49897748	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49897748G>A	uc002pnm.1	+	3	233	c.59G>A	c.(58-60)CGG>CAG	p.R20Q	CCDC155_uc002pnl.1_Missense_Mutation_p.R20Q|CCDC155_uc010emx.1_5'UTR	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	20						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2						CTCCGGGAGCGGCCTGAGGAG	0.612000												
SLC17A7	57030	broad.mit.edu	37	19	49934675	49934675	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49934675A>G	uc002pnp.2	-	10	1353	c.1181T>C	c.(1180-1182)GTG>GCG	p.V394A	SLC17A7_uc002pno.2_Intron	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	394	Helical; (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GTAGCCGACCACCAACAGCAG	0.587000												
RCN3	57333	broad.mit.edu	37	19	50031965	50031965	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50031965G>A	uc002poj.2	+	2	683	c.236G>A	c.(235-237)CGT>CAT	p.R79H		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	79	EF-hand 1.					endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		AGCCAGGCCCGTCTGGGGTAA	0.602000												
PTOV1	53635	broad.mit.edu	37	19	50361173	50361173	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50361173C>T	uc002pqf.1	+	8	987	c.817C>T	c.(817-819)CCC>TCC	p.P273S	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.P241S|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	273	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CAGGCCTGAGCCCAACAGTCG	0.652000												
NAPSA	9476	broad.mit.edu	37	19	50862331	50862331	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50862331G>A	uc002prx.2	-	8	1025	c.972C>T	c.(970-972)CCC>CCT	p.P324P	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	324					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGGAGACTGCGGGGAGCTTTG	0.542000												
ZNF614	80110	broad.mit.edu	37	19	52521663	52521663	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:52521663G>A	uc002pyj.2	-	3	502	c.100C>T	c.(100-102)CGG>TGG	p.R34W	ZNF614_uc002pyi.3_Missense_Mutation_p.R34W|ZNF614_uc010epj.2_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	zinc finger protein 614	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATCACATCCCGGTACAGGTTC	0.507000												
NLRP2	55655	broad.mit.edu	37	19	55493959	55493959	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:55493959G>T	uc002qij.2	+	6	979	c.893G>T	c.(892-894)GGG>GTG	p.G298V	NLRP2_uc010yfp.1_Missense_Mutation_p.G275V|NLRP2_uc010esn.2_Missense_Mutation_p.G274V|NLRP2_uc010eso.2_Missense_Mutation_p.G295V|NLRP2_uc010esp.2_Missense_Mutation_p.G276V	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	298	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCGCACCTGGGGCGCTGATC	0.582000												
HSPBP1	23640	broad.mit.edu	37	19	55785969	55785969	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:55785969A>G	uc002qjx.2	-	3	685	c.575T>C	c.(574-576)ATG>ACG	p.M192T	HSPBP1_uc002qjy.2_Missense_Mutation_p.M146T|HSPBP1_uc002qkb.2_Missense_Mutation_p.M146T|HSPBP1_uc002qka.2_Missense_Mutation_p.M146T|HSPBP1_uc002qkd.2_Missense_Mutation_p.M146T|HSPBP1_uc002qkc.2_Missense_Mutation_p.M146T	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	149	ARM 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CAGCAGGTGCATGCCAGACAG	0.522000												
ZNF835	90485	broad.mit.edu	37	19	57175446	57175446	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:57175446C>T	uc010ygo.1	-	2	1187	c.1187G>A	c.(1186-1188)CGC>CAC	p.R396H	ZNF835_uc010ygn.1_Missense_Mutation_p.R374H	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GAGGTGGGAGCGGTTGCTGAA	0.672000												
ZNF274	10782	broad.mit.edu	37	19	58718429	58718429	+	Silent	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:58718429C>A	uc002qrq.1	+	7	1059	c.600C>A	c.(598-600)ATC>ATA	p.I200I	ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Silent_p.I168I|ZNF274_uc002qrs.1_Silent_p.I95I|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	200	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AGGAGCAGATCCTGGAGCTGC	0.602000												
ZNF8	7554	broad.mit.edu	37	19	58806481	58806481	+	Missense_Mutation	SNP	C	C	T	rs147485828		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:58806481C>T	uc002qry.1	+	4	1437	c.1307C>T	c.(1306-1308)ACG>ATG	p.T436M	ZNF8_uc002qrz.2_RNA	NM_021089	NP_066575	P17098	ZNF8_HUMAN	zinc finger protein 8	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TTTGAGCAGACGCCAGCTCTC	0.587000												
KCNF1	3754	broad.mit.edu	37	2	11052800	11052800	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:11052800C>T	uc002rax.2	+	1	738	c.248C>T	c.(247-249)CCG>CTG	p.P83L		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F,	83	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GACAGGGACCCGGACGCCTTC	0.572000												
APOB	338	broad.mit.edu	37	2	21230763	21230763	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:21230763C>T	uc002red.2	-	26	9105	c.8977G>A	c.(8977-8979)GAT>AAT	p.D2993N		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2993					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGGGAATCGACTTGTGAT	0.418000												
ASXL2	55252	broad.mit.edu	37	2	25966139	25966139	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:25966139T>C	uc002rgs.2	-	12	3288	c.3067A>G	c.(3067-3069)ACC>GCC	p.T1023A	ASXL2_uc002rgt.1_Intron	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1023					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGCAAGGTTTTGCCCAGC	0.522000												
OTOF	9381	broad.mit.edu	37	2	26684692	26684692	+	Missense_Mutation	SNP	G	G	T	rs144562626		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:26684692G>T	uc002rhk.2	-	43	5532	c.5405C>A	c.(5404-5406)GCG>GAG	p.A1802E	OTOF_uc010yla.1_Missense_Mutation_p.A532E|OTOF_uc002rhh.2_Missense_Mutation_p.A1035E|OTOF_uc002rhi.2_Missense_Mutation_p.A1112E|OTOF_uc002rhj.2_Missense_Mutation_p.A1035E	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1802	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCTCCTCCGCCGCCAGGTA	0.602000												
CRIM1	51232	broad.mit.edu	37	2	36771544	36771544	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:36771544T>G	uc002rpd.2	+	15	2688	c.2649T>G	c.(2647-2649)AAT>AAG	p.N883K		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	cysteine-rich motor neuron 1 precursor	883	Extracellular (Potential).				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AACCAACCAATATACCCATTG	0.433000												
NRXN1	9378	broad.mit.edu	37	2	51254969	51254969	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:51254969G>A	uc010fbq.2	-	2	1920	c.443C>T	c.(442-444)ACG>ATG	p.T148M	NRXN1_uc002rxe.3_Missense_Mutation_p.T148M|NRXN1_uc002rxd.1_Missense_Mutation_p.T148M	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	209	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTGAACACCGTCATGTCCCT	0.677000												
FBXO41	150726	broad.mit.edu	37	2	73493775	73493775	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:73493775G>A	uc002sjb.1	-	3	1124	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	314	Potential.					intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						CCGCGCCGCCGTCTCCTTCAG	0.672000												
TET3	200424	broad.mit.edu	37	2	74317154	74317154	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:74317154G>A	uc002skb.3	+	5	2614	c.2614G>A	c.(2614-2616)GCA>ACA	p.A872T		NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	872							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						GTTCCGCCTCGCAGGGGACAA	0.592000												
HK2	3099	broad.mit.edu	37	2	75101065	75101065	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:75101065T>C	uc002snd.2	+	6	2612	c.686T>C	c.(685-687)ATT>ACT	p.I229T		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	229	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2						ATTGGTCTCATTGTGGGTGAG	0.547000												
POLR1A	25885	broad.mit.edu	37	2	86276318	86276318	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:86276318G>A	uc002sqs.2	-	17	2819	c.2440C>T	c.(2440-2442)CGT>TGT	p.R814C	POLR1A_uc010ytb.1_Missense_Mutation_p.R180C	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	814					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TCAATGATACGTTGCCTCTTG	0.547000												
TMEM131	23505	broad.mit.edu	37	2	98504533	98504533	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:98504533A>G	uc002syh.3	-	4	570	c.341T>C	c.(340-342)ATG>ACG	p.M114T	TMEM131_uc010yvg.1_RNA	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	114						integral to membrane				ovary(4)|central_nervous_system(2)	6						GAAATCCAGCATTGGTGGCTC	0.333000												
AMMECR1L	83607	broad.mit.edu	37	2	128622689	128622689	+	Silent	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:128622689G>T	uc002tpl.2	-	8	1163	c.912C>A	c.(910-912)CCC>CCA	p.P304P	AMMECR1L_uc002tpm.2_Silent_p.P304P	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	304										central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GATTGTAGAGGGGCGGGGCAT	0.542000												
LCT	3938	broad.mit.edu	37	2	136566597	136566597	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:136566597G>A	uc002tuu.1	-	8	3331	c.3320C>T	c.(3319-3321)ACG>ATG	p.T1107M		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1107	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCATCGTACGTGTGATAGAC	0.577000												
LRP1B	53353	broad.mit.edu	37	2	141130642	141130642	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:141130642G>T	uc002tvj.1	-	69	11675	c.10703C>A	c.(10702-10704)GCA>GAA	p.A3568E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3568	Extracellular (Potential).|LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTCCATTTTGCTGGTATACA	0.353000										TSP Lung(27;0.18)		
KYNU	8942	broad.mit.edu	37	2	143799645	143799645	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:143799645A>G	uc002tvl.2	+	14	1432	c.1302A>G	c.(1300-1302)CGA>CGG	p.R434R	KYNU_uc010fnm.2_Silent_p.R434R	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	434					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATGGCATTCGagtggctccag	0.279000												
ZEB2	9839	broad.mit.edu	37	2	145156048	145156048	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:145156048G>A	uc002tvu.2	-	8	3186	c.2706C>T	c.(2704-2706)AGC>AGT	p.S902S	ZEB2_uc002tvv.2_Silent_p.S896S|ZEB2_uc010zbm.1_Silent_p.S873S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.S931S	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	902						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGGAAATGCGCTTTGAGGTG	0.463000												
NEB	4703	broad.mit.edu	37	2	152470941	152470941	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:152470941C>T	uc010fnx.2	-	73	10912	c.10721G>A	c.(10720-10722)AGC>AAC	p.S3574N		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3574	Nebulin 98.				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)		GTCCACTGGGCTGCTGAACTT	0.527000												
SCN7A	6332	broad.mit.edu	37	2	167269610	167269610	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:167269610T>C	uc002udu.1	-	21	3563	c.3436A>G	c.(3436-3438)ACT>GCT	p.T1146A	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1146					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						TTCATAATAGTGATCCATCCA	0.303000												
EVX2	344191	broad.mit.edu	37	2	176945405	176945405	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:176945405G>A	uc010zeu.1	-	3	1047	c.861C>T	c.(859-861)TAC>TAT	p.Y287Y		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	287						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCACGTGCGGGTAGTAGTGCA	0.502000												
TTN	7273	broad.mit.edu	37	2	179391762	179391762	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:179391762T>C	uc010zfg.1	-	312	100473	c.100249A>G	c.(100249-100251)AAT>GAT	p.N33417D	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N27112D|TTN_uc010zfi.1_Missense_Mutation_p.N27045D|TTN_uc010zfj.1_Missense_Mutation_p.N26920D|TTN_uc002umq.2_Missense_Mutation_p.N333D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	34344							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGTATATTCACAGTGGCA	0.413000												
TTN	7273	broad.mit.edu	37	2	179611264	179611264	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:179611264T>C	uc002unb.2	-	46	16087	c.15863A>G	c.(15862-15864)CAT>CGT	p.H5288R	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACATGCTGATGTGTTACTGG	0.423000												
TTN	7273	broad.mit.edu	37	2	179638310	179638310	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:179638310T>C	uc010zfg.1	-	32	7697	c.7473A>G	c.(7471-7473)GTA>GTG	p.V2491V	TTN_uc010zfh.1_Silent_p.V2445V|TTN_uc010zfi.1_Silent_p.V2445V|TTN_uc010zfj.1_Silent_p.V2445V|TTN_uc002unb.2_Silent_p.V2491V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2491							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGGCCTGTACACGGTCAT	0.443000												
COL3A1	1281	broad.mit.edu	37	2	189852825	189852825	+	Missense_Mutation	SNP	G	G	T	rs121912926		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:189852825G>T	uc002uqj.1	+	6	664	c.547G>T	c.(547-549)GGT>TGT	p.G183C		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	183	Triple-helical region.		G -> S (in EDS4).|G -> D (in EDS4).|G -> C (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGCCCTCCCGGTCCCCCTGG	0.403000												
DYTN	391475	broad.mit.edu	37	2	207572065	207572065	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:207572065G>A	uc002vbr.1	-	3	374	c.257C>T	c.(256-258)CCG>CTG	p.P86L		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	86						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGTGAGTTCCGGAGCTCTGGG	0.527000												
PIKFYVE	200576	broad.mit.edu	37	2	209217472	209217472	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:209217472T>C	uc002vcz.2	+	39	5968	c.5810T>C	c.(5809-5811)ATG>ACG	p.M1937T		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1937	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						CTCCTTGTCATGGAAAATCTT	0.403000												
RUFY4	285180	broad.mit.edu	37	2	218947958	218947958	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:218947958G>T	uc002vgw.2	+	12	2806	c.962G>T	c.(961-963)AGG>ATG	p.R321M	RUFY4_uc002vgy.1_RNA|RUFY4_uc010fvl.1_Missense_Mutation_p.R321M	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	494	FYVE-type.						metal ion binding			pancreas(1)	1		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCATGAAGAGGCGGGTGTTG	0.587000												
ATG9A	79065	broad.mit.edu	37	2	220090164	220090164	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:220090164C>T	uc002vke.1	-	6	529	c.343G>A	c.(343-345)GCC>ACC	p.A115T	ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Missense_Mutation_p.A115T	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	115	Lumenal (By similarity).				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCAAAAAGGCGTCTGGCAGA	0.517000												
SPEG	10290	broad.mit.edu	37	2	220315865	220315865	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:220315865G>A	uc010fwg.2	+	5	2121	c.2121G>A	c.(2119-2121)TCG>TCA	p.S707S	SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	707					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGAGTCTTCGGATGACTCCT	0.602000												
DOCK10	55619	broad.mit.edu	37	2	225710332	225710332	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:225710332G>A	uc010fwz.1	-	20	2502	c.2263C>T	c.(2263-2265)CAT>TAT	p.H755Y	DOCK10_uc002vob.2_Missense_Mutation_p.H749Y	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	755	DHR-1.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTTTCTCATGGAGTTGTGTT	0.388000												
WDR69	164781	broad.mit.edu	37	2	228786191	228786191	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:228786191C>T	uc002vpn.1	+	12	1206	c.1127C>T	c.(1126-1128)ACT>ATT	p.T376I	WDR69_uc010zlw.1_Missense_Mutation_p.T361I|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	376	WD 7.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GATGCTCAGACTGGCCAGTGC	0.433000												
ANKMY1	51281	broad.mit.edu	37	2	241447085	241447085	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:241447085C>A	uc002vyz.1	-	12	2380	c.2151G>T	c.(2149-2151)CAG>CAT	p.Q717H	ANKMY1_uc002vza.1_Missense_Mutation_p.Q493H|ANKMY1_uc010fzd.1_Missense_Mutation_p.Q806H|ANKMY1_uc002vzb.1_Missense_Mutation_p.Q478H|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Missense_Mutation_p.Q540H	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	717	ANK 6.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGTCAGCTCCCTGGGTCAGGA	0.602000												
SNED1	25992	broad.mit.edu	37	2	241973177	241973177	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:241973177T>C	uc002wah.1	+	3	527	c.527T>C	c.(526-528)ATC>ACC	p.I176T		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	6720455I24Rik homolog precursor	176	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACTGTGCTCATCACAGACGGC	0.632000												
ZNF343	79175	broad.mit.edu	37	20	2463857	2463857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:2463857G>A	uc002wge.1	-	6	2238	c.1750C>T	c.(1750-1752)CGA>TGA	p.R584*	ZNF343_uc010gao.1_Nonsense_Mutation_p.R584*|ZNF343_uc002wgd.1_Nonsense_Mutation_p.R494*	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	584	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTAAAGCCTCGCCCACACTCC	0.522000												
KIF16B	55614	broad.mit.edu	37	20	16506751	16506751	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:16506751C>T	uc002wpg.1	-	3	375	c.217G>A	c.(217-219)GTT>ATT	p.V73I	KIF16B_uc010gch.1_Missense_Mutation_p.V73I|KIF16B_uc010gci.1_Missense_Mutation_p.V73I|KIF16B_uc010gcj.1_Missense_Mutation_p.V73I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	73	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TCTTGTGAAACGTAATCTGGG	0.343000												
RIN2	54453	broad.mit.edu	37	20	19955391	19955391	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:19955391G>C	uc002wro.1	+	7	758	c.722G>C	c.(721-723)CGT>CCT	p.R241P	RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.R35P	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	241					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			lung(4)|ovary(1)	5						GCCTCCCTGCGTCAGCTCTGC	0.557000												
ACSS1	84532	broad.mit.edu	37	20	25004162	25004162	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:25004162C>T	uc002wub.2	-	4	1625	c.747G>A	c.(745-747)CTG>CTA	p.L249L	ACSS1_uc002wuc.2_Silent_p.L249L|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_5'Flank|ACSS1_uc002wua.2_Silent_p.L166L	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	249					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			ovary(1)|skin(1)	2					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGAGCCACCAGGACATGCT	0.577000												
NINL	22981	broad.mit.edu	37	20	25472073	25472073	+	Silent	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:25472073T>G	uc002wux.1	-	11	1473	c.1399A>C	c.(1399-1401)AGG>CGG	p.R467R	NINL_uc010gdn.1_Silent_p.R467R|NINL_uc010gdo.1_Silent_p.R250R|NINL_uc010ztf.1_Silent_p.R483R	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	467					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						GCCCTCTGCCTGTGGGCCTGC	0.682000												
C20orf4	25980	broad.mit.edu	37	20	34828094	34828094	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:34828094C>A	uc002xfc.1	+	2	397	c.304C>A	c.(304-306)CCA>ACA	p.P102T	C20orf4_uc002xfd.1_Missense_Mutation_p.P102T|C20orf4_uc002xfe.1_Missense_Mutation_p.P102T	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	102											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AGACCTGTCCCCAGCCCCAGA	0.607000												
MYL9	10398	broad.mit.edu	37	20	35177567	35177567	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:35177567A>G	uc002xfl.1	+	4	528	c.434A>G	c.(433-435)GAG>GGG	p.E145G	uc002xfk.3_Intron|MYL9_uc002xfm.1_Missense_Mutation_p.E91G	NM_006097	NP_006088	P24844	MYL9_HUMAN	myosin regulatory light chain 9 isoform a	145	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle				0	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGTACCGGGAGGCACCCATT	0.582000												
DHX35	60625	broad.mit.edu	37	20	37634970	37634970	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:37634970G>A	uc002xjh.2	+	12	1204	c.1193G>A	c.(1192-1194)CGC>CAC	p.R398H	DHX35_uc010zwa.1_Missense_Mutation_p.R243H|DHX35_uc010zwb.1_Missense_Mutation_p.R243H|DHX35_uc010zwc.1_Missense_Mutation_p.R367H	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	398	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			lung(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GGTCGTAGTCGCTCGGGAAAA	0.502000												
PLCG1	5335	broad.mit.edu	37	20	39801247	39801247	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:39801247G>A	uc002xjp.1	+	26	3213	c.3092G>A	c.(3091-3093)TGT>TAT	p.C1031Y	PLCG1_uc002xjo.1_Missense_Mutation_p.C1031Y|PLCG1_uc010zwe.1_Missense_Mutation_p.C657Y	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	1031	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)				ATGTGGATCTGTGGCAGTCAG	0.577000												
ZFP64	55734	broad.mit.edu	37	20	50701599	50701599	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:50701599G>A	uc002xwk.2	-	9	1784	c.1435C>T	c.(1435-1437)CGG>TGG	p.R479W	ZFP64_uc002xwj.2_Missense_Mutation_p.R260W	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGTCAGCCCGGTCCCGGCCC	0.642000												
CTCFL	140690	broad.mit.edu	37	20	56098123	56098123	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:56098123C>T	uc010gix.1	-	2	1416	c.754_splice	c.e2+1	p.G252_splice	CTCFL_uc010giw.1_Splice_Site_p.G252_splice|CTCFL_uc002xym.2_Splice_Site_p.G252_splice|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Splice_Site_p.G252_splice|CTCFL_uc010gjb.1_Splice_Site_p.G252_splice|CTCFL_uc010gjc.1_Splice_Site_p.G252_splice|CTCFL_uc010gjd.1_Splice_Site_p.G252_splice|CTCFL_uc010gje.2_Splice_Site_p.G252_splice|CTCFL_uc010gjf.2_Splice_Site_p.G47_splice|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Splice_Site_p.G252_splice|CTCFL_uc010gji.1_Splice_Site_p.G47_splice|CTCFL_uc010gjj.1_Splice_Site_p.G252_splice|CTCFL_uc010gjk.1_Splice_Site_p.G252_splice|CTCFL_uc010gjl.1_Splice_Site_p.G252_splice	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AACTGGCCTACCCTTTGTCTT	0.388000												
GNAS	2778	broad.mit.edu	37	20	57480479	57480479	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:57480479A>G	uc002xzw.2	+	6	2688	c.2403A>G	c.(2401-2403)GGA>GGG	p.G801G	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Silent_p.G99G|GNAS_uc002xzx.2_Silent_p.G99G|GNAS_uc010gjr.2_Silent_p.G49G|GNAS_uc002xzy.2_Silent_p.G84G|GNAS_uc002yaa.2_Silent_p.G144G|GNAS_uc010zzt.1_Silent_p.G159G|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Silent_p.G49G|GNAS_uc002yae.2_Silent_p.G83G	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	158					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGATGAAGGAGTGCGTGCCT	0.473000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)		
ZNF831	128611	broad.mit.edu	37	20	57829477	57829477	+	Silent	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:57829477T>G	uc002yan.2	+	5	4713	c.4713T>G	c.(4711-4713)GCT>GCG	p.A1571A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1571						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					AAATACCAGCTTCAGGACCAA	0.483000												
NTSR1	4923	broad.mit.edu	37	20	61386229	61386229	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:61386229C>T	uc002ydf.2	+	2	1278	c.907C>T	c.(907-909)CGC>TGC	p.R303C		NM_002531	NP_002522	P30989	NTR1_HUMAN	neurotensin receptor 1	303	Cytoplasmic (Potential).					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			skin(2)|lung(1)|central_nervous_system(1)	4	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCACGGCGTGCGCGTCCTACG	0.697000												
ADAMTS1	9510	broad.mit.edu	37	21	28212301	28212301	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:28212301G>A	uc002ymf.2	-	6	2200	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	582	TSP type-1 1.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		TTCCCTCATCGTGTACTGGAC	0.517000												
TIAM1	7074	broad.mit.edu	37	21	32508291	32508291	+	Silent	SNP	C	C	T	rs143123730		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:32508291C>T	uc002yow.1	-	24	4315	c.3843G>A	c.(3841-3843)TCG>TCA	p.S1281S	TIAM1_uc011adk.1_Silent_p.S1281S|TIAM1_uc011adl.1_Silent_p.S1221S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1281	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						ACTTGCCCAGCGAGGCCGGCG	0.502000												
TIAM1	7074	broad.mit.edu	37	21	32582408	32582408	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:32582408C>T	uc002yow.1	-	12	2813	c.2341G>A	c.(2341-2343)GTC>ATC	p.V781I	TIAM1_uc011adk.1_Missense_Mutation_p.V781I|TIAM1_uc011adl.1_Missense_Mutation_p.V756I	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	781	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCTGGCCGGACGACCGTCAGG	0.547000												
C21orf59	56683	broad.mit.edu	37	21	33982263	33982263	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:33982263T>C	uc002yqc.2	-	2	305	c.192A>G	c.(190-192)GGA>GGG	p.G64G	C21orf59_uc002ypx.1_5'Flank|C21orf59_uc002ypy.1_Silent_p.G64G|C21orf59_uc002ypz.1_Silent_p.G64G|C21orf59_uc010glx.2_5'UTR|C21orf59_uc002yqd.2_Silent_p.G64G|C21orf59_uc002yqb.3_Silent_p.G64G|C21orf59_uc011adr.1_Intron	NM_021254	NP_067077	P57076	CU059_HUMAN	hypothetical protein LOC56683	64						cytosol|nucleus					0						CATCGGTCAGTCCTTGCATAT	0.378000												
SON	6651	broad.mit.edu	37	21	34925015	34925015	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:34925015T>C	uc002yse.1	+	3	3527	c.3478T>C	c.(3478-3480)TTG>CTG	p.L1160L	SON_uc002ysb.1_Silent_p.L1160L|SON_uc002ysc.2_Silent_p.L1160L|SON_uc002ysd.2_Silent_p.L151L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Silent_p.L151L	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1160	3 X 11 AA tandem repats of P-P-L-P-P-E-E- P-P-[TME]-[MTG].				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						AATGCCACCGTTGCCACCTGA	0.517000												
CRYZL1	9946	broad.mit.edu	37	21	34974629	34974629	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:34974629T>C	uc011adw.1	-	8	668	c.488A>G	c.(487-489)CAG>CGG	p.Q163R	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.Q187R|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	163					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						ATGTGCTAACTGAATAGCTAT	0.373000												
DIP2A	23181	broad.mit.edu	37	21	47985656	47985656	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:47985656G>A	uc002zjo.2	+	36	4378	c.4195G>A	c.(4195-4197)GGG>AGG	p.G1399R	DIP2A_uc011afz.1_Missense_Mutation_p.G1395R|DIP2A_uc002zjs.2_Missense_Mutation_p.G79R|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1399					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)		CAATGCCACCGGGTACTACAC	0.567000												
DGCR8	54487	broad.mit.edu	37	22	20073931	20073931	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:20073931G>T	uc002zri.2	+	2	795	c.445G>T	c.(445-447)GGT>TGT	p.G149C	DGCR8_uc010grz.2_Missense_Mutation_p.G149C|DGCR8_uc002zrj.2_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	149	Necessary for nuclear localization and retention.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					GGCGGAGTGCGGTCTGCTCCT	0.572000												
MYO18B	84700	broad.mit.edu	37	22	26351273	26351273	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:26351273C>T	uc003abz.1	+	39	6349	c.6099C>T	c.(6097-6099)GCC>GCT	p.A2033A	MYO18B_uc003aca.1_Silent_p.A1914A|MYO18B_uc010guy.1_Silent_p.A1915A|MYO18B_uc010guz.1_Silent_p.A1913A|MYO18B_uc011aka.1_Silent_p.A1187A|MYO18B_uc011akb.1_Silent_p.A1546A|MYO18B_uc010gva.1_Silent_p.A31A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2033	Tail.|Potential.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						AGCTGAAGGCCGACATGGAAG	0.637000												
SEC14L2	23541	broad.mit.edu	37	22	30802355	30802355	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:30802355C>T	uc003ahr.2	+	3	328	c.155C>T	c.(154-156)TCG>TTG	p.S52L	SEC14L2_uc003ahq.2_Missense_Mutation_p.S52L|SEC14L2_uc011akx.1_5'UTR|SEC14L2_uc003ahs.2_5'UTR|SEC14L2_uc011aky.1_Missense_Mutation_p.S52L|SEC14L2_uc003aht.2_5'Flank|SEC14L2_uc003ahu.3_5'Flank|SEC14L2_uc010gvv.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTP18_uc010gvx.1_5'Flank|MTP18_uc003ahv.1_5'Flank	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	52					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)	CTGCAGAAGTCGGAGGCCATG	0.532000												
CYTH4	27128	broad.mit.edu	37	22	37705361	37705361	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:37705361C>A	uc003arf.2	+	9	921	c.805C>A	c.(805-807)CTA>ATA	p.L269I	CYTH4_uc003are.2_3'UTR|CYTH4_uc011amw.1_Missense_Mutation_p.L212I|CYTH4_uc010gxe.2_Intron	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	cytohesin 4	269	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			ovary(2)	2						GCTGCTCAAGCTAGGTGAGAG	0.592000												
GTPBP1	9567	broad.mit.edu	37	22	39124048	39124048	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:39124048G>A	uc003awg.2	+	10	1752	c.1598G>A	c.(1597-1599)CGC>CAC	p.R533H		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	533					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)					GACTGTCTGCGCACTGGGGAC	0.592000												
TNRC6B	23112	broad.mit.edu	37	22	40662751	40662751	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:40662751G>A	uc011aor.1	+	5	2728	c.2517G>A	c.(2515-2517)TCG>TCA	p.S839S	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Silent_p.S839S|TNRC6B_uc003ayo.2_Silent_p.S643S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	839	Pro-rich.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0						CTTCTGGTTCGTGGGGAGGCC	0.617000												
ZC3H7B	23264	broad.mit.edu	37	22	41753257	41753257	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:41753257C>T	uc003azw.2	+	23	2974	c.2758C>T	c.(2758-2760)CTG>TTG	p.L920L	ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	936	Potential.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1						CAACGAGTGGCTGGACCGGCG	0.622000												
ACO2	50	broad.mit.edu	37	22	41903881	41903881	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:41903881C>T	uc003bac.2	+	3	282	c.260C>T	c.(259-261)TCG>TTG	p.S87L	ACO2_uc003bad.2_Missense_Mutation_p.S87L	NM_001098	NP_001089	Q99798	ACON_HUMAN	aconitase 2, mitochondrial precursor	87					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(2)|ovary(1)|lung(1)	4						CGAGGCAAGTCGTACCTGCGG	0.622000												
NFAM1	150372	broad.mit.edu	37	22	42807623	42807623	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:42807623T>C	uc003bcn.3	-	2	279	c.241A>G	c.(241-243)AGC>GGC	p.S81G		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	NFAT activation molecule 1 precursor	81	Extracellular (Potential).|Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity				0						TGAAAGTAGCTGACTGTGAAA	0.552000												
PHF21B	112885	broad.mit.edu	37	22	45312220	45312220	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:45312220G>A	uc003bfn.2	-	4	655	c.504C>T	c.(502-504)GCC>GCT	p.A168A	PHF21B_uc003bfm.2_Silent_p.A6A|PHF21B_uc011aqk.1_Silent_p.A156A|PHF21B_uc011aql.1_Silent_p.A168A|PHF21B_uc011aqm.1_Silent_p.A156A	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	PHD finger protein 21B isoform 1	168							zinc ion binding			ovary(2)|skin(1)	3		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCACAGACACGGCGGTGCTGG	0.672000												
TBC1D22A	25771	broad.mit.edu	37	22	47433069	47433069	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:47433069C>T	uc003bib.2	+	11	1439	c.1304C>T	c.(1303-1305)ACC>ATC	p.T435I	TBC1D22A_uc010haf.2_Missense_Mutation_p.T405I|TBC1D22A_uc003bic.2_Missense_Mutation_p.T376I|TBC1D22A_uc003bie.2_Missense_Mutation_p.T357I|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T388I	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	435	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CTGCGTTGTACCATCCGCCTG	0.632000												
ZBED4	9889	broad.mit.edu	37	22	50280399	50280399	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:50280399T>C	uc003bix.2	+	2	3559	c.3089T>C	c.(3088-3090)ATC>ACC	p.I1030T		NM_014838	NP_055653	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1030						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			ovary(2)	2		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGATTTAATCAGGGAACTC	0.582000												
SRGAP3	9901	broad.mit.edu	37	3	9057396	9057396	+	Silent	SNP	G	G	A	rs141284390	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:9057396G>A	uc003brf.1	-	15	2374	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	SRGAP3_uc003brg.1_Silent_p.D542D|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	566	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CATTTTGATCGTCCACAAGGG	0.448000			T	RAF1	pilocytic astrocytoma							
TTC21A	199223	broad.mit.edu	37	3	39166987	39166987	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:39166987C>T	uc003cjc.2	+	11	1557	c.1380C>T	c.(1378-1380)TGC>TGT	p.C460C	TTC21A_uc003cje.2_Silent_p.C460C|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Silent_p.C411C	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	460							binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCTGGTCTGCATTGCTAAGG	0.552000												
TRAK1	22906	broad.mit.edu	37	3	42244155	42244155	+	Missense_Mutation	SNP	G	G	A	rs149693845		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:42244155G>A	uc003cky.2	+	13	1871	c.1655G>A	c.(1654-1656)CGC>CAC	p.R552H	TRAK1_uc011azh.1_Missense_Mutation_p.R552H|TRAK1_uc011azi.1_Missense_Mutation_p.R552H|TRAK1_uc003ckz.3_Missense_Mutation_p.R478H|TRAK1_uc011azj.1_Missense_Mutation_p.R478H|TRAK1_uc003cla.2_Missense_Mutation_p.R494H	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	552					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						ACGCACTCCCGCTTCTCCGAG	0.632000												
KLHL18	23276	broad.mit.edu	37	3	47385423	47385423	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47385423A>G	uc003crd.2	+	10	1843	c.1717A>G	c.(1717-1719)ACC>GCC	p.T573A	KLHL18_uc011bav.1_Missense_Mutation_p.T461A	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	573											0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCCTCTCCTCACCATCTAAGG	0.592000												
PTPN23	25930	broad.mit.edu	37	3	47453351	47453351	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47453351G>A	uc003crf.1	+	21	4063	c.3967G>A	c.(3967-3969)GTC>ATC	p.V1323I	PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.V1193I|uc003cri.2_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type	1323	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTGAGCAGCGTCCGCAGCAC	0.622000												
SMARCC1	6599	broad.mit.edu	37	3	47651742	47651742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47651742G>A	uc003crq.2	-	26	2975	c.2857C>T	c.(2857-2859)CGA>TGA	p.R953*	SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Nonsense_Mutation_p.R844*	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated	953					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TGTCGTGCTCGTAATTCAGCA	0.532000												
IP6K1	9807	broad.mit.edu	37	3	49775738	49775738	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:49775738C>T	uc003cxm.1	-	3	656	c.341G>A	c.(340-342)CGG>CAG	p.R114Q	IP6K1_uc003cxn.1_5'UTR|IP6K1_uc011bcv.1_5'UTR|IP6K1_uc003cxo.2_Missense_Mutation_p.R114Q	NM_153273	NP_695005	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1 isoform 1	114					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity				0						GTGTTTGCGCCGAGGTTGCTC	0.552000												
GNAT1	2779	broad.mit.edu	37	3	50231585	50231585	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:50231585C>T	uc003cym.2	+	6	755	c.639C>T	c.(637-639)GGC>GGT	p.G213G	GNAT1_uc003cyl.2_Silent_p.G213G	NM_144499	NP_653082	P11488	GNAT1_HUMAN	rod-type transducin alpha subunit	213					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTTCGAGGGCGTGACCTGCA	0.682000												
DNAH1	25981	broad.mit.edu	37	3	52426908	52426908	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:52426908A>G	uc011bef.1	+	65	10602	c.10341A>G	c.(10339-10341)ATA>ATG	p.I3447M	DNAH1_uc003ddv.2_Missense_Mutation_p.I305M	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3512					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGAGTACATACCCGTGGCCA	0.572000												
NISCH	11188	broad.mit.edu	37	3	52512141	52512141	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:52512141T>C	uc011beg.1	+	11	1088	c.1016T>C	c.(1015-1017)CTG>CCG	p.L339P	NISCH_uc003ded.3_Missense_Mutation_p.L339P|NISCH_uc003dec.1_Missense_Mutation_p.L339P	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	339	LRR 3.|Necessary for homooligomerization and targeting to endosomes.|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CATCTGGACCTGTCCTACAAC	0.537000												
STAB1	23166	broad.mit.edu	37	3	52551354	52551354	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:52551354T>C	uc003dej.2	+	43	4582	c.4508T>C	c.(4507-4509)ATC>ACC	p.I1503T	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1503	EGF-like 12.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGTCTCATCCACCACGGG	0.612000												
CACNA1D	776	broad.mit.edu	37	3	53785815	53785815	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:53785815C>T	uc003dgv.3	+	28	3719	c.3556C>T	c.(3556-3558)CGG>TGG	p.R1186W	CACNA1D_uc003dgu.3_Missense_Mutation_p.R1206W|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1186W|CACNA1D_uc003dgw.3_Missense_Mutation_p.R853W|CACNA1D_uc003dgx.1_Missense_Mutation_p.R334W	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1186	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACGTCCCTTGCGGAGATACAT	0.512000												
LRIG1	26018	broad.mit.edu	37	3	66434487	66434487	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:66434487C>T	uc003dmx.2	-	14	2013	c.1999G>A	c.(1999-2001)GCA>ACA	p.A667T	SLC25A26_uc011bft.1_Intron|LRIG1_uc011bfu.1_Missense_Mutation_p.A287T|LRIG1_uc003dmw.2_Missense_Mutation_p.A333T|LRIG1_uc010hnz.2_Missense_Mutation_p.A383T|LRIG1_uc010hoa.2_Intron	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	667	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TAAACCCCTGCGTCATCTATT	0.493000												
LRIG1	26018	broad.mit.edu	37	3	66465353	66465353	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:66465353A>G	uc003dmx.2	-	5	652	c.638T>C	c.(637-639)CTG>CCG	p.L213P	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.L213P	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	213	Extracellular (Potential).|LRR 7.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CAGTTGTGTCAGCCTGGGTAG	0.488000												
PDZRN3	23024	broad.mit.edu	37	3	73433871	73433871	+	Missense_Mutation	SNP	C	C	T	rs139110477		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:73433871C>T	uc003dpl.1	-	10	1942	c.1846G>A	c.(1846-1848)GGC>AGC	p.G616S	PDZRN3_uc011bgh.1_Missense_Mutation_p.G273S|PDZRN3_uc010hoe.1_Missense_Mutation_p.G314S|PDZRN3_uc011bgf.1_Missense_Mutation_p.G333S|PDZRN3_uc011bgg.1_Missense_Mutation_p.G336S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	616							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAGGTCGCCGCTGCCCAAG	0.657000												
CRYBG3	131544	broad.mit.edu	37	3	97595968	97595968	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:97595968C>T	uc003drx.2	+	1	150	c.86C>T	c.(85-87)ACA>ATA	p.T29I		NM_153605	NP_705833			beta-gamma crystallin domain containing 3												0						AGGAGAGAGACAGATTATAGT	0.383000												
GABRR3	200959	broad.mit.edu	37	3	97731387	97731387	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:97731387T>C	uc011bgr.1	-	4	331	c.331A>G	c.(331-333)AGG>GGG	p.R111G		NM_001105580	NP_001099050	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 3	111	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0						CAGTAATGCCTGAGATAAAAA	0.413000												
CCDC14	64770	broad.mit.edu	37	3	123633732	123633732	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:123633732G>A	uc011bjx.1	-	13	2847	c.2756C>T	c.(2755-2757)ACG>ATG	p.T919M	CCDC14_uc003egv.3_Missense_Mutation_p.T560M|CCDC14_uc003egx.3_Missense_Mutation_p.T719M|CCDC14_uc010hrt.2_Missense_Mutation_p.T878M|CCDC14_uc003egy.3_Missense_Mutation_p.T719M|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	919						centrosome					0		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGAAGTGAACGTTGAAAACGA	0.443000												
SEC61A1	29927	broad.mit.edu	37	3	127783746	127783746	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:127783746G>A	uc003ekb.2	+	8	827	c.643G>A	c.(643-645)GCA>ACA	p.A215T	RUVBL1_uc003eke.2_3'UTR|RUVBL1_uc003ekf.2_3'UTR|SEC61A1_uc003ekc.2_Missense_Mutation_p.A162T|SEC61A1_uc003ekd.2_Missense_Mutation_p.A95T|SEC61A1_uc003ekg.2_5'UTR	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	215	Lumenal (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1						TGCTATCATCGCACTTTTCCA	0.507000												
CLSTN2	64084	broad.mit.edu	37	3	140122508	140122508	+	Silent	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:140122508G>T	uc003etn.2	+	3	460	c.270G>T	c.(268-270)CTG>CTT	p.L90L	CLSTN2_uc003etm.2_Silent_p.L90L	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	90	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						GCCAGGAGCTGCCCTTTGAGG	0.527000										HNSCC(16;0.037)		
TRIM42	287015	broad.mit.edu	37	3	140407105	140407105	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:140407105C>T	uc003eto.1	+	3	1772	c.1581C>T	c.(1579-1581)CTC>CTT	p.L527L		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	527						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CCCACAGCCTCGGCAACCAGC	0.582000												
SIAH2	6478	broad.mit.edu	37	3	150460067	150460067	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:150460067G>A	uc003eyi.2	-	2	1463	c.836C>T	c.(835-837)ACG>ATG	p.T279M		NM_005067	NP_005058	O43255	SIAH2_HUMAN	seven in absentia homolog 2	279	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGAACGGGGCGTGGCCTCCCA	0.547000												
IGSF10	285313	broad.mit.edu	37	3	151176381	151176381	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:151176381C>T	uc011bod.1	-	1	117	c.117G>A	c.(115-117)ACG>ACA	p.T39T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	39	LRRNT.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGTACCTCCGTAGGCATAT	0.562000												
ZBBX	79740	broad.mit.edu	37	3	167016150	167016150	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:167016150A>C	uc003fep.2	-	18	2145	c.1822T>G	c.(1822-1824)TTA>GTA	p.L608V	ZBBX_uc011bpc.1_Missense_Mutation_p.L608V|ZBBX_uc003feq.2_Missense_Mutation_p.L579V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	608						intracellular	zinc ion binding			ovary(2)	2						GAAGGAAGTAAGTTGAGTCTT	0.328000												
EIF4A2	1974	broad.mit.edu	37	3	186502807	186502807	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:186502807A>G	uc003fqs.2	+	4	304	c.265A>G	c.(265-267)ATT>GTT	p.I89V	EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.I90V|EIF4A2_uc003fqv.2_Intron|EIF4A2_uc003fqw.2_Intron|EIF4A2_uc011bsb.1_5'Flank|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	89	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			ovary(2)|breast(2)	4	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CACATTTGCTATTTCCATCCT	0.443000			T	BCL6	NHL							
TM4SF19	116211	broad.mit.edu	37	3	196050848	196050848	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:196050848G>A	uc003fwl.1	-	5	595	c.470C>T	c.(469-471)TCG>TTG	p.S157L	TM4SF19_uc003fwj.2_RNA|uc003fwk.1_Missense_Mutation_p.R38Q|TM4SF19_uc010iad.1_Missense_Mutation_p.R156C|TM4SF19_uc011btv.1_Missense_Mutation_p.S131L	NM_138461	NP_612470	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	157	Extracellular (Potential).					integral to membrane					0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GTTCCAGAGCGAACGGTCATA	0.542000												
MFSD7	84179	broad.mit.edu	37	4	680446	680446	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:680446T>C	uc003gay.2	-	2	226	c.169A>G	c.(169-171)ATT>GTT	p.I57V	MFSD7_uc003gaw.2_5'Flank|MFSD7_uc003gax.2_Missense_Mutation_p.I57V|MFSD7_uc003gaz.2_Intron|MFSD7_uc003gba.2_Missense_Mutation_p.I57V|MFSD7_uc003gbb.1_5'UTR	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	57					transmembrane transport	integral to membrane					0						TCCTCAGCAATGACGTCAGCC	0.627000												
LIAS	11019	broad.mit.edu	37	4	39471655	39471655	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:39471655C>T	uc003guf.2	+	8	827	c.754C>T	c.(754-756)CGG>TGG	p.R252W	LIAS_uc003gug.2_Missense_Mutation_p.R252W|LIAS_uc003guh.2_Missense_Mutation_p.R209W	NM_006859	NP_006850	O43766	LIAS_HUMAN	lipoic acid synthetase isoform 1 precursor	252					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding				0					Lipoic Acid(DB00166)	TCGTGATCCTCGGGCCAATTT	0.418000												
PHOX2B	8929	broad.mit.edu	37	4	41748277	41748277	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:41748277C>T	uc003gwf.3	-	3	852	c.492G>A	c.(490-492)GCG>GCA	p.A164A		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	164	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1)	12						TGGCCGCGGCCGCTGCGGCTG	0.662000			Mis|F		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
GRXCR1	389207	broad.mit.edu	37	4	43032468	43032468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:43032468C>T	uc003gwt.2	+	4	784	c.784C>T	c.(784-786)CGA>TGA	p.R262*		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	262					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1						GTCCATGTTTCGAAACTGCTT	0.473000												
KCTD8	386617	broad.mit.edu	37	4	44450458	44450458	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:44450458G>A	uc003gwu.2	-	1	367	c.83C>T	c.(82-84)GCG>GTG	p.A28V		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	28						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						ggcggccgacgcgccgggcgA	0.527000										HNSCC(17;0.042)		
UGT2A1	10941	broad.mit.edu	37	4	70460308	70460308	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:70460308C>T	uc003hem.3	-	5	1254	c.1191G>A	c.(1189-1191)CAG>CAA	p.Q397Q	UGT2A1_uc011caq.1_Silent_p.Q563Q|UGT2A1_uc010ihu.2_Silent_p.Q397Q|UGT2A1_uc010iht.2_Silent_p.Q353Q|UGT2A1_uc010ihs.2_Silent_p.Q398Q	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	397	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						TGTTATCAGGCTGATCAGCAA	0.453000												
AMBN	258	broad.mit.edu	37	4	71472057	71472057	+	Silent	SNP	C	C	T	rs145240720		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:71472057C>T	uc003hfl.2	+	13	1029	c.954C>T	c.(952-954)AAC>AAT	p.N318N		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	318					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			GCCCTGAGAACGAAGAAGGAG	0.577000												
ANKRD17	26057	broad.mit.edu	37	4	74005813	74005813	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:74005813A>G	uc003hgp.2	-	15	2637	c.2520T>C	c.(2518-2520)GCT>GCC	p.A840A	ANKRD17_uc003hgo.2_Silent_p.A727A|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Silent_p.A840A|ANKRD17_uc011cbd.1_Silent_p.A405A	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	840					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAGTTGGTCAGCATGAGCCA	0.423000												
NAA11	84779	broad.mit.edu	37	4	80246788	80246788	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:80246788G>A	uc003hlt.3	-	1	384	c.244C>T	c.(244-246)CGG>TGG	p.R82W		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	82	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						CCGAGGCGCCGGTGTGAACGC	0.562000												
DNAJB14	79982	broad.mit.edu	37	4	100851702	100851702	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:100851702G>A	uc003hvl.2	-	2	361	c.210C>T	c.(208-210)GGC>GGT	p.G70G	DNAJB14_uc003hvk.2_5'UTR|DNAJB14_uc010ili.2_Intron|DNAJB14_uc003hvm.2_Silent_p.G70G	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	70					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TGCTTTGATCGCCACTACCTG	0.428000												
PPA2	27068	broad.mit.edu	37	4	106367549	106367549	+	Silent	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:106367549G>C	uc003hxl.2	-	5	452	c.432C>G	c.(430-432)ACC>ACG	p.T144T	PPA2_uc003hxm.2_Silent_p.T126T|PPA2_uc003hxn.2_Silent_p.T144T|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.T51T|PPA2_uc003hxr.2_Silent_p.T51T|PPA2_uc011cfa.1_Silent_p.T51T	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	144					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		CCTGAGGGAGGGTACCATAAT	0.358000												
PPA2	27068	broad.mit.edu	37	4	106367570	106367570	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:106367570A>G	uc003hxl.2	-	5	431	c.411T>C	c.(409-411)GGT>GGC	p.G137G	PPA2_uc003hxm.2_Silent_p.G119G|PPA2_uc003hxn.2_Silent_p.G137G|PPA2_uc003hxo.2_Intron|PPA2_uc003hxp.2_Intron|PPA2_uc003hxq.2_Silent_p.G44G|PPA2_uc003hxr.2_Silent_p.G44G|PPA2_uc011cfa.1_Silent_p.G44G	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	inorganic pyrophosphatase 2 isoform 1 precursor	137					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			pancreas(1)	1		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCCATATATAACCCTTGTAAG	0.373000												
ARHGEF38	54848	broad.mit.edu	37	4	106510452	106510452	+	Missense_Mutation	SNP	C	C	A	rs145953652	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:106510452C>A	uc003hxu.2	+	2	390	c.244C>A	c.(244-246)CCA>ACA	p.P82T		NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN	hypothetical protein LOC54848	82					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|breast(1)	3						GACCTTAACCCCAGAGGAAGA	0.418000												
DKK2	27123	broad.mit.edu	37	4	107845238	107845238	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:107845238C>T	uc003hyi.2	-	4	1358	c.653G>A	c.(652-654)CGC>CAC	p.R218H	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	218	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACCCTTCTTGCGTTGTTTGGT	0.502000												
EGF	1950	broad.mit.edu	37	4	110865126	110865126	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:110865126G>A	uc003hzy.3	+	4	1090	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	EGF_uc011cfu.1_Missense_Mutation_p.R213Q|EGF_uc011cfv.1_Missense_Mutation_p.R213Q	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	213	LDL-receptor class B 4.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTTGATAAGCGGCTGTTTTGG	0.433000												
KIAA1109	84162	broad.mit.edu	37	4	123207740	123207740	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:123207740C>T	uc003ieh.2	+	51	9127	c.9082C>T	c.(9082-9084)CGT>TGT	p.R3028C	KIAA1109_uc003iel.1_Missense_Mutation_p.R963C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	3028					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCACAGATTGCGTTTTACTTC	0.388000												
FAT4	79633	broad.mit.edu	37	4	126242500	126242500	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:126242500G>A	uc003ifj.3	+	1	4934	c.4934G>A	c.(4933-4935)GGC>GAC	p.G1645D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1645	Cadherin 16.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GAACCCATTGGCACAAACGTG	0.413000												
HSPA4L	22824	broad.mit.edu	37	4	128716934	128716934	+	Silent	SNP	C	C	T	rs75776460	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:128716934C>T	uc003ifm.2	+	3	430	c.177C>T	c.(175-177)AAC>AAT	p.N59N	HSPA4L_uc010iny.1_Silent_p.N59N|HSPA4L_uc011cgr.1_Silent_p.N26N	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	59					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						TAGTCACGAACGTAAGAAATA	0.373000												
HSPA4L	22824	broad.mit.edu	37	4	128725223	128725223	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:128725223A>G	uc003ifm.2	+	8	1219	c.966A>G	c.(964-966)AAA>AAG	p.K322K	HSPA4L_uc010iny.1_Silent_p.K281K|HSPA4L_uc011cgr.1_Silent_p.K289K	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	322					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CACCTTTAAAAGCAGTAATGG	0.358000												
RAB33B	83452	broad.mit.edu	37	4	140394191	140394191	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140394191A>G	uc003ihv.2	+	2	990	c.601A>G	c.(601-603)AGC>GGC	p.S201G		NM_031296	NP_112586	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	201					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding				0	all_hematologic(180;0.162)					TAAGCTTAAGAGCCACAAACC	0.418000												
MAML3	55534	broad.mit.edu	37	4	140810638	140810638	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140810638G>T	uc003ihz.1	-	3	2692	c.1940C>A	c.(1939-1941)CCG>CAG	p.P647Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	647	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)					TGGAGGTGGCGgctgctgctg	0.418000												
LRBA	987	broad.mit.edu	37	4	151199022	151199022	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:151199022C>T	uc010ipj.2	-	57	8958	c.8484G>A	c.(8482-8484)GCG>GCA	p.A2828A	LRBA_uc010ipi.2_Silent_p.A350A|LRBA_uc003ils.3_Silent_p.A723A|LRBA_uc003ilt.3_Silent_p.A1476A|LRBA_uc003ilu.3_Silent_p.A2816A|LRBA_uc003ilr.3_Silent_p.A248A	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2828	WD 6.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CGTAAGACAGCGCCATGGCCC	0.468000												
LRBA	987	broad.mit.edu	37	4	151770620	151770620	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:151770620G>T	uc010ipj.2	-	25	4586	c.4112C>A	c.(4111-4113)GCT>GAT	p.A1371D	LRBA_uc003ilt.3_Missense_Mutation_p.A30D|LRBA_uc003ilu.3_Missense_Mutation_p.A1371D	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1371						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					ACCCCCACAAGCCATGACCAT	0.393000												
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:153249385G>A	uc003ims.2	-	9	1542	c.1393C>T	c.(1393-1395)CGT>TGT	p.R465C	FBXW7_uc011cii.1_Missense_Mutation_p.R465C|FBXW7_uc003imt.2_Missense_Mutation_p.R465C|FBXW7_uc011cih.1_Missense_Mutation_p.R289C|FBXW7_uc003imq.2_Missense_Mutation_p.R385C|FBXW7_uc003imr.2_Missense_Mutation_p.R347C	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	465	WD 3.		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in a acute lymphoblastic leukemia cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R465C(52)|p.R465H(36)|p.R465L(2)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			Mis|N|D|F		colorectal|endometrial|T-ALL							
TLL1	7092	broad.mit.edu	37	4	166935638	166935638	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:166935638G>A	uc003irh.1	+	8	1615	c.968G>A	c.(967-969)CGT>CAT	p.R323H	TLL1_uc011cjn.1_Missense_Mutation_p.R323H|TLL1_uc011cjo.1_Missense_Mutation_p.R147H	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	323	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AATGGCATACGTCCTGCAATT	0.458000												
HPGD	3248	broad.mit.edu	37	4	175416735	175416735	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:175416735T>C	uc003itu.2	-	5	652	c.462A>G	c.(460-462)TCA>TCG	p.S154S	HPGD_uc003itt.2_Silent_p.S21S|HPGD_uc003itv.2_Silent_p.S154S|HPGD_uc011ckf.1_Silent_p.S33S|HPGD_uc010irp.2_Silent_p.S33S|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Silent_p.S86S|HPGD_uc011ckh.1_Silent_p.S33S|HPGD_uc003itw.2_Silent_p.S154S	NM_000860	NP_000851	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	154	NAD.				female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity				0		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TGCCATGCTTTGAAGCACAAT	0.388000												
ODZ3	55714	broad.mit.edu	37	4	183694720	183694720	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:183694720T>C	uc003ivd.1	+	22	5025	c.4988T>C	c.(4987-4989)ATT>ACT	p.I1663T		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1663	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)		ACAGTGGACATTGAGTCATCT	0.443000												
C4orf41	60684	broad.mit.edu	37	4	184614224	184614224	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:184614224C>T	uc003ivx.2	+	20	2337	c.2161C>T	c.(2161-2163)CGG>TGG	p.R721W	C4orf41_uc003ivw.2_Missense_Mutation_p.R721W|C4orf41_uc010isc.2_Missense_Mutation_p.R65W|C4orf41_uc003ivy.2_Missense_Mutation_p.R327W	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	hypothetical protein LOC60684 isoform a	721											0		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)		ACAGGCAGCTCGGTCTTTCAA	0.483000												
SLC6A3	6531	broad.mit.edu	37	5	1432617	1432617	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:1432617G>A	uc003jck.2	-	4	736	c.615C>T	c.(613-615)AAC>AAT	p.N205N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	205	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAAAAGTGTCGTTGAGGCCCG	0.617000												
SEMA5A	9037	broad.mit.edu	37	5	9063142	9063142	+	Missense_Mutation	SNP	G	G	A	rs2290734		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:9063142G>A	uc003jek.2	-	18	3087	c.2375C>T	c.(2374-2376)TCG>TTG	p.S792L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	792	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						CTGTGACCACGACGTCCAGGC	0.597000												
SEMA5A	9037	broad.mit.edu	37	5	9154749	9154749	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:9154749C>A	uc003jek.2	-	12	2044	c.1332G>T	c.(1330-1332)TTG>TTT	p.L444F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	444	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TCTCTTCCAGCAAACAGCTGC	0.547000												
MARCH6	10299	broad.mit.edu	37	5	10411586	10411586	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:10411586A>G	uc003jet.1	+	19	2016	c.1833A>G	c.(1831-1833)ATA>ATG	p.I611M	MARCH6_uc011cmu.1_Missense_Mutation_p.I563M|MARCH6_uc003jeu.1_Missense_Mutation_p.I309M|MARCH6_uc011cmv.1_Missense_Mutation_p.I506M	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	611	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						ACCAAGCCATACTCCAGCAGG	0.458000												
ROPN1L	83853	broad.mit.edu	37	5	10450112	10450112	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:10450112A>G	uc003jex.3	+	3	575	c.304A>G	c.(304-306)AAG>GAG	p.K102E		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	102					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						GCAGAAGTGGAAGAACTTGTG	0.398000												
DNAH5	1767	broad.mit.edu	37	5	13922340	13922340	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:13922340G>A	uc003jfd.2	-	5	578	c.536C>T	c.(535-537)ACG>ATG	p.T179M	DNAH5_uc003jfe.1_RNA	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	179	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GCCATGGCTCGTGGCTCTGAG	0.562000									Kartagener_syndrome			
ADAMTS12	81792	broad.mit.edu	37	5	33596124	33596124	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:33596124C>T	uc003jia.1	-	17	2732	c.2569G>A	c.(2569-2571)GGG>AGG	p.G857R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G772R	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	857	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TTCACCATCCCGCGGCCCTTC	0.517000										HNSCC(64;0.19)		
RANBP3L	202151	broad.mit.edu	37	5	36251559	36251559	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:36251559G>T	uc003jkh.2	-	13	1703	c.1210C>A	c.(1210-1212)CAT>AAT	p.H404N	RANBP3L_uc011cow.1_Missense_Mutation_p.H429N	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like isoform 2	404	RanBD1.				intracellular transport					ovary(1)	1	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAAGACGATGATGTATTGCT	0.383000												
DDX4	54514	broad.mit.edu	37	5	55110957	55110957	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:55110957G>A	uc003jqg.3	+	20	2018	c.1944G>A	c.(1942-1944)TCG>TCA	p.S648S	DDX4_uc010ivz.2_Silent_p.S628S|DDX4_uc003jqh.3_Silent_p.S614S|DDX4_uc003jqj.2_Silent_p.S499S	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform	648	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|skin(1)	2		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCTTGAATCGGATAACCATT	0.358000												
ARSB	411	broad.mit.edu	37	5	78280984	78280984	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:78280984G>A	uc003kfq.2	-	1	1374	c.88C>T	c.(88-90)CTG>TTG	p.L30L	ARSB_uc003kfr.3_Silent_p.L30L	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	30					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		gccAACAACAGCAGCAGCAGC	0.557000												
THBS4	7060	broad.mit.edu	37	5	79366961	79366961	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:79366961G>A	uc003kgh.2	+	14	2001	c.1678G>A	c.(1678-1680)GAT>AAT	p.D560N	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	560	TSP type-3 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACCGATGGGGATGGAAGAGG	0.413000												
ANKRD34B	340120	broad.mit.edu	37	5	79855037	79855037	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:79855037G>A	uc010jam.2	-	4	1152	c.802C>T	c.(802-804)CTC>TTC	p.L268F	ANKRD34B_uc003kgw.2_Missense_Mutation_p.L268F|ANKRD34B_uc010jan.2_Missense_Mutation_p.L268F	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	268						cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ATATCCTGGAGCTCCTCTTGC	0.502000												
MSH3	4437	broad.mit.edu	37	5	80064741	80064741	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:80064741C>T	uc003kgz.2	+	15	2425	c.2172C>T	c.(2170-2172)GAC>GAT	p.D724D		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	724					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GTGTTATTGACGAGATCCGAA	0.328000								MMR				
RASGRF2	5924	broad.mit.edu	37	5	80513294	80513294	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:80513294T>C	uc003kha.1	+	25	3552	c.3552_splice	c.e25+2	p.M1184_splice	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_Splice_Site	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGAGAATGGTAGGTATAATT	0.338000												
GPR98	84059	broad.mit.edu	37	5	89923187	89923187	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:89923187A>G	uc003kju.2	+	7	928	c.832A>G	c.(832-834)ATA>GTA	p.I278V	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	278	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAAGACCACATACTCATAAT	0.378000												
FAM174A	345757	broad.mit.edu	37	5	99871435	99871435	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:99871435C>T	uc003knj.1	+	1	321	c.201C>T	c.(199-201)GGC>GGT	p.G67G	uc003kni.2_5'Flank	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	67	Extracellular (Potential).					integral to membrane					0						AGCAGCCGGGCCGTGGTCTGG	0.721000												
FER	2241	broad.mit.edu	37	5	108168618	108168618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:108168618C>T	uc003kop.1	+	4	739	c.355C>T	c.(355-357)CAG>TAG	p.Q119*	FER_uc011cve.1_Nonsense_Mutation_p.Q59*|FER_uc011cvf.1_RNA|FER_uc003koq.2_Nonsense_Mutation_p.Q119*|FER_uc011cvg.1_Intron	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	119	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGGTGTTCATCAGCAGATAGA	0.388000												
SEMA6A	57556	broad.mit.edu	37	5	115813609	115813609	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:115813609A>G	uc010jck.2	-	15	2291	c.1582T>C	c.(1582-1584)TCC>CCC	p.S528P	SEMA6A_uc003krx.3_Missense_Mutation_p.S528P|SEMA6A_uc003krw.3_Missense_Mutation_p.S60P|SEMA6A_uc010jcj.2_Missense_Mutation_p.S72P	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and	528	Extracellular (Potential).				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			ovary(2)	2		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGTCTCTGGAGGCAATACAG	0.493000												
SMAD5	4090	broad.mit.edu	37	5	135496657	135496657	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:135496657G>A	uc003lbj.1	+	5	960	c.516G>A	c.(514-516)ACG>ACA	p.T172T	SMAD5_uc003lbk.1_Silent_p.T172T|SMAD5_uc003lbl.1_Silent_p.T172T	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	SMAD family member 5	172					BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAATGCCACGTTTCCAGATT	0.473000												
KDM3B	51780	broad.mit.edu	37	5	137735690	137735690	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:137735690G>A	uc003lcy.1	+	11	3388	c.3188G>A	c.(3187-3189)CGG>CAG	p.R1063Q	KDM3B_uc010jew.1_Missense_Mutation_p.R719Q|KDM3B_uc011cys.1_Missense_Mutation_p.R95Q	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	jumonji domain containing 1B	1063					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						AGGAAAAGCCGGCCACGCAGT	0.478000												
PCDHB1	29930	broad.mit.edu	37	5	140431403	140431403	+	Silent	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140431403C>A	uc003lik.1	+	1	425	c.348C>A	c.(346-348)TCC>TCA	p.S116S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	116	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCAGTCCTTCCGGGCCG	0.502000												
PCDHB5	26167	broad.mit.edu	37	5	140517344	140517344	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140517344G>T	uc003liq.2	+	1	2545	c.2328G>T	c.(2326-2328)CAG>CAT	p.Q776H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	776	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTGCCCCAGGGCGCTGGTG	0.502000												
PCDHB7	56129	broad.mit.edu	37	5	140553130	140553130	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140553130C>T	uc003lit.2	+	1	888	c.714C>T	c.(712-714)AAC>AAT	p.N238N		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	238	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542000												
PCDHGA2	56113	broad.mit.edu	37	5	140718560	140718560	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140718560C>T	uc003ljk.1	+	1	207	c.22C>T	c.(22-24)CCA>TCA	p.P8S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.P8S	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	8					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAAGTTGCCACACTGCAG	0.552000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHGB2	56103	broad.mit.edu	37	5	140740955	140740955	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140740955A>G	uc003ljs.1	+	1	1253	c.1253A>G	c.(1252-1254)TAC>TGC	p.Y418C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.Y418C|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	418	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCAGAATACAATCTCACC	0.507000												
PCDHGA9	56107	broad.mit.edu	37	5	140782828	140782828	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140782828G>A	uc003lkh.1	+	1	309	c.309G>A	c.(307-309)CTG>CTA	p.L103L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Silent_p.L103L	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	103	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTGAACTTTA	0.532000												
PCDHGC5	56097	broad.mit.edu	37	5	140869039	140869039	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:140869039A>C	uc003lla.1	+	1	232	c.232A>C	c.(232-234)AGC>CGC	p.S78R	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S78R	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	78	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTCCCTGAGCTTGATGAG	0.547000												
FBXO38	81545	broad.mit.edu	37	5	147793698	147793698	+	Splice_Site	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:147793698G>T	uc003lpf.1	+	10	1214	c.1094_splice	c.e10-1	p.S365_splice	FBXO38_uc003lpg.1_Splice_Site_p.S365_splice|FBXO38_uc003lph.2_Splice_Site_p.S365_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b							cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTTTTTAGGCAGAATGGC	0.358000												
HTR4	3360	broad.mit.edu	37	5	147830828	147830828	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:147830828C>T	uc003lpj.1	-	7	1248	c.1084G>A	c.(1084-1086)GTT>ATT	p.V362I	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform a	362	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTGTGCAGAACGGTGTACCTA	0.483000												
CDX1	1044	broad.mit.edu	37	5	149546485	149546485	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:149546485G>A	uc003lrq.2	+	1	142	c.46G>A	c.(46-48)GGC>AGC	p.G16S		NM_001804	NP_001795	P47902	CDX1_HUMAN	caudal type homeobox 1	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGTACCCCGGCCCAGCCAG	0.597000												
CDX1	1044	broad.mit.edu	37	5	149546487	149546487	+	Silent	SNP	C	C	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:149546487C>G	uc003lrq.2	+	1	144	c.48C>G	c.(46-48)GGC>GGG	p.G16G		NM_001804	NP_001795	P47902	CDX1_HUMAN	caudal type homeobox 1	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTACCCCGGCCCAGCCAGGC	0.592000												
CCDC69	26112	broad.mit.edu	37	5	150566955	150566955	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:150566955T>C	uc003ltq.2	-	5	508	c.385A>G	c.(385-387)ACC>GCC	p.T129A	CCDC69_uc010jhu.2_5'UTR|CCDC69_uc011dcq.1_RNA	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	129	Potential.									ovary(2)	2		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCTGGGTAGAACTGGCC	0.537000												
CYFIP2	26999	broad.mit.edu	37	5	156816383	156816383	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:156816383G>A	uc003lwq.2	+	31	3532	c.3394G>A	c.(3394-3396)GCC>ACC	p.A1132T	CYFIP2_uc011ddn.1_Missense_Mutation_p.A1106T|CYFIP2_uc011ddo.1_Missense_Mutation_p.A936T|CYFIP2_uc003lwr.2_Missense_Mutation_p.A1132T|CYFIP2_uc003lws.2_Missense_Mutation_p.A1132T|CYFIP2_uc003lwt.2_Missense_Mutation_p.A1035T|CYFIP2_uc011ddp.1_Missense_Mutation_p.A866T|CYFIP2_uc003lwv.2_Missense_Mutation_p.A87T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1157					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTGTGGAGCGCCATGCAGTT	0.617000												
DOCK2	1794	broad.mit.edu	37	5	169111316	169111316	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:169111316C>T	uc003maf.2	+	8	803	c.723C>T	c.(721-723)TTC>TTT	p.F241F	DOCK2_uc011der.1_RNA	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	241					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAGCTCTTCATGTCTCTCT	0.483000												
TLX3	30012	broad.mit.edu	37	5	170736463	170736463	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:170736463G>A	uc003mbf.2	+	1	176	c.94G>A	c.(94-96)GCA>ACA	p.A32T	uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	32						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)			CCAGGACAGCGCACCCGCCCC	0.756000			T	BCL11B	T-ALL							
SH3PXD2B	285590	broad.mit.edu	37	5	171766016	171766016	+	Missense_Mutation	SNP	C	C	T	rs144659619	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:171766016C>T	uc003mbr.2	-	13	2264	c.2093G>A	c.(2092-2094)CGA>CAA	p.R698Q		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	698					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGGAAGCTTCGGCTGAAGGC	0.632000												
HRH2	3274	broad.mit.edu	37	5	175111278	175111278	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:175111278A>G	uc003mdd.2	+	1	2815	c.1042A>G	c.(1042-1044)ACA>GCA	p.T348A	HRH2_uc003mdc.3_Missense_Mutation_p.T348A	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	348	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GTGGAGTGGGACAGAAGTCAC	0.582000												
SNCB	6620	broad.mit.edu	37	5	176056614	176056614	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176056614G>A	uc003mep.2	-	3	485	c.42C>T	c.(40-42)GGC>GGT	p.G14G	SNCB_uc003meq.2_Silent_p.G14G|SNCB_uc010jke.1_Silent_p.G14G|hsa-mir-4281|MI0015885_5'Flank|EIF4E1B_uc010jkf.1_5'Flank	NM_001001502	NP_001001502	Q16143	SYUB_HUMAN	beta-synuclein	14							calcium ion binding|phospholipase inhibitor activity			ovary(1)	1	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCACAACGCCCTCCTTGG	0.672000												
EIF4E1B	253314	broad.mit.edu	37	5	176070736	176070736	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176070736G>A	uc010jkf.1	+	5	880	c.296_splice	c.e5+1	p.A99_splice		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E						regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTTCTGGGCGTGAGTGTCTG	0.632000												
PDLIM7	9260	broad.mit.edu	37	5	176917892	176917892	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176917892T>G	uc003mhc.1	-	7	636	c.551A>C	c.(550-552)GAG>GCG	p.E184A	PDLIM7_uc003mha.1_5'UTR|PDLIM7_uc003mhb.1_Missense_Mutation_p.E150A|PDLIM7_uc003mhd.1_Missense_Mutation_p.E36A|PDLIM7_uc003mhe.1_RNA|PDLIM7_uc003mhf.2_Missense_Mutation_p.E184A|PDLIM7_uc003mhg.1_Missense_Mutation_p.E184A	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 isoform 1	184					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTGCTCCTCATCCGGGTC	0.602000												
DCDC2	51473	broad.mit.edu	37	6	24289078	24289078	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:24289078A>G	uc003ndx.2	-	6	1061	c.759_splice	c.e6+1	p.S253_splice	DCDC2_uc003ndy.2_Splice_Site_p.S253_splice	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2						cellular defense response|intracellular signal transduction|neuron migration					ovary(1)	1		Ovarian(999;0.101)				TCTGATACTTACACTCCCTTT	0.353000												
PGBD1	84547	broad.mit.edu	37	6	28269709	28269709	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28269709G>A	uc003nky.2	+	7	2448	c.2078G>A	c.(2077-2079)GGC>GAC	p.G693D	PGBD1_uc003nkz.2_Missense_Mutation_p.G693D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	693					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						TATGGGGATGGCATTATCAGT	0.383000												
ZNF311	282890	broad.mit.edu	37	6	28963905	28963905	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28963905T>C	uc003nlu.2	-	7	1387	c.874A>G	c.(874-876)ATG>GTG	p.M292V	ZNF311_uc011dlk.1_Missense_Mutation_p.M200V|ZNF311_uc003nlv.2_Missense_Mutation_p.M200V	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	292	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						ATCCGGTGCATAGAAAGCTGA	0.438000												
VARS2	57176	broad.mit.edu	37	6	30890885	30890885	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:30890885C>T	uc003nsc.1	+	23	2822	c.2190C>T	c.(2188-2190)GGC>GGT	p.G730G	VARS2_uc011dmx.1_Silent_p.G730G|VARS2_uc011dmy.1_Silent_p.G590G|VARS2_uc011dmz.1_Silent_p.G760G|VARS2_uc011dna.1_Silent_p.G728G|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Silent_p.G168G|VARS2_uc010jsg.1_Silent_p.G102G|VARS2_uc010jsh.1_5'UTR	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	730					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			ovary(3)|central_nervous_system(1)	4						TTCCAGCGGGCGACTTGCACC	0.567000												
HLA-B	3106	broad.mit.edu	37	6	31323192	31323192	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:31323192T>C	uc003nth.2	-	4	851	c.797A>G	c.(796-798)CAG>CGG	p.Q266R	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.Q145R|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	266	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).			Q -> E (in Ref. 16; AA sequence).	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						TGCCCACTTCTGGAAGGTTCT	0.582000									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
CPNE5	57699	broad.mit.edu	37	6	36710206	36710206	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:36710206G>A	uc003omr.1	-	21	1688	c.1621C>T	c.(1621-1623)CGC>TGC	p.R541C	CPNE5_uc003omp.1_Missense_Mutation_p.R249C|CPNE5_uc010jwn.1_Missense_Mutation_p.R191C|CPNE5_uc003omq.1_Missense_Mutation_p.R191C	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	copine V	541	VWFA.									skin(1)	1						CGGGCCAGGCGGGCCATGCTC	0.652000												
PIM1	5292	broad.mit.edu	37	6	37140777	37140777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:37140777C>T	uc003onk.2	+	5	1043	c.613C>T	c.(613-615)CGA>TGA	p.R205*	PIM1_uc011dtw.1_Silent_p.P73P	NM_002648	NP_002639	P11309	PIM1_HUMAN	non-specific serine/threonine protein kinase	296	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			large_intestine(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CACAGGGACCCGAGTGTATAG	0.478000			T	BCL6	NHL							
BTBD9	114781	broad.mit.edu	37	6	38560397	38560397	+	Silent	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:38560397G>T	uc003ooa.3	-	5	1345	c.769C>A	c.(769-771)CGA>AGA	p.R257R	BTBD9_uc003ony.3_Silent_p.R189R|BTBD9_uc010jwv.2_Silent_p.R189R|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.R257R	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9 isoform a	257					cell adhesion						0						CTCTCAGATCGCACTTTAATG	0.498000												
DNAH8	1769	broad.mit.edu	37	6	38791409	38791409	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:38791409G>T	uc003ooe.1	+	26	3741	c.3141G>T	c.(3139-3141)CAG>CAT	p.Q1047H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CTTTTGAACAGGAGATTGATG	0.313000												
DNAH8	1769	broad.mit.edu	37	6	38997965	38997965	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:38997965G>A	uc003ooe.1	+	91	13870	c.13270G>A	c.(13270-13272)GTA>ATA	p.V4424I		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						CACCCCCAAGGTACTCTTCAC	0.512000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ABCC10	89845	broad.mit.edu	37	6	43400360	43400360	+	Silent	SNP	T	T	C	rs141145411		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:43400360T>C	uc003ouy.1	+	3	857	c.642T>C	c.(640-642)GCT>GCC	p.A214A	ABCC10_uc003ouz.1_Silent_p.A171A	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	214						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGAGGTGGCTGAAGATGGGG	0.632000												
PRIM2	5558	broad.mit.edu	37	6	57372344	57372344	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:57372344C>T	uc003pdx.2	+	8	837	c.750C>T	c.(748-750)CTC>CTT	p.L250L		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	250					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGCCTCTGCTCAATCACCTCA	0.408000												
EYS	346007	broad.mit.edu	37	6	66054010	66054010	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:66054010C>T	uc011dxu.1	-	10	2058	c.1520G>A	c.(1519-1521)TGC>TAC	p.C507Y	EYS_uc003peq.2_Missense_Mutation_p.C507Y|EYS_uc003per.1_Missense_Mutation_p.C507Y	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	507					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						ATCTTCAGTGCAGTTTGCAGC	0.353000												
MYO6	4646	broad.mit.edu	37	6	76591511	76591511	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:76591511T>C	uc003pih.1	+	23	2671	c.2392T>C	c.(2392-2394)TGG>CGG	p.W798R	MYO6_uc003pig.1_Missense_Mutation_p.W798R|MYO6_uc003pii.1_Missense_Mutation_p.W798R	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	798	Required for binding calmodulin (By similarity).				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAAAGTTCAGTGGTGCTCACT	0.418000												
SNAP91	9892	broad.mit.edu	37	6	84265953	84265953	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:84265953G>A	uc011dze.1	-	28	2960	c.2643C>T	c.(2641-2643)AGC>AGT	p.S881S	SNAP91_uc011dzd.1_Silent_p.S379S|SNAP91_uc003pkb.2_Silent_p.S790S|SNAP91_uc003pkc.2_Silent_p.S851S|SNAP91_uc003pkd.2_Silent_p.S574S|SNAP91_uc003pka.2_Silent_p.S879S	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	881	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CAGGTGTAGGGCTTGGAGAAA	0.438000												
NT5E	4907	broad.mit.edu	37	6	86197150	86197150	+	Silent	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:86197150C>A	uc003pko.3	+	5	1603	c.1047C>A	c.(1045-1047)TCC>TCA	p.S349S	NT5E_uc010kbr.2_Silent_p.S349S	NM_002526	NP_002517	P21589	5NTD_HUMAN	5' nucleotidase, ecto precursor	349					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			ovary(3)|central_nervous_system(1)	4		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGGATGGCTCCTCTCAATCAT	0.373000												
PRDM13	59336	broad.mit.edu	37	6	100062523	100062523	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:100062523G>A	uc003pqg.1	+	4	2273	c.2012G>A	c.(2011-2013)GGC>GAC	p.G671D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	671					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)		GCCGAGCCCGGCTATCCCCCG	0.701000												
CDC40	51362	broad.mit.edu	37	6	110534291	110534291	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:110534291C>T	uc003pua.2	+	8	894	c.870C>T	c.(868-870)GGC>GGT	p.G290G		NM_015891	NP_056975	O60508	PRP17_HUMAN	cell division cycle 40 homolog	290	WD 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm					0		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTTATAGGGCGTCAGTGCAG	0.378000												
SLC22A16	85413	broad.mit.edu	37	6	110778069	110778069	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:110778069A>G	uc003puf.2	-	2	272	c.205T>C	c.(205-207)TGG>CGG	p.W69R	SLC22A16_uc003pue.2_Intron|SLC22A16_uc003pug.2_Missense_Mutation_p.W69R	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	solute carrier family 22, member 16	69					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			ovary(1)	1		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TCCAAACTCCAATTAGAGTGA	0.498000												
TSPYL4	23270	broad.mit.edu	37	6	116574135	116574135	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:116574135C>T	uc003pwn.2	-	1	1127	c.1037G>A	c.(1036-1038)CGG>CAG	p.R346Q	DSE_uc011ebf.1_5'Flank|TSPYL4_uc011ebe.1_Missense_Mutation_p.R174Q|uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	346					nucleosome assembly	nucleus					0		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GTTCCCTTCCCGGTTTCTGTG	0.512000												
ZUFSP	221302	broad.mit.edu	37	6	116966910	116966910	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:116966910T>C	uc003pxf.1	-	9	1902	c.1656A>G	c.(1654-1656)GCA>GCG	p.A552A	ZUFSP_uc010kef.1_Silent_p.A356A	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	552						intracellular	zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CACCCTCTACTGCCAATATCT	0.318000												
HBS1L	10767	broad.mit.edu	37	6	135300363	135300363	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:135300363G>A	uc003qez.2	-	14	1848	c.1641C>T	c.(1639-1641)GGC>GGT	p.G547G	HBS1L_uc003qey.2_Silent_p.G383G|HBS1L_uc011ecy.1_Silent_p.G271G|HBS1L_uc011ecz.1_Silent_p.G383G|HBS1L_uc011eda.1_Silent_p.G505G	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Hsp70 subfamily B suppressor 1-like protein	547					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			skin(2)	2	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TAACATGATCGCCTGCTGCCG	0.428000												
IFNGR1	3459	broad.mit.edu	37	6	137519585	137519585	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:137519585A>G	uc003qho.2	-	7	1156	c.1053T>C	c.(1051-1053)AGT>AGC	p.S351S	IFNGR1_uc011edm.1_Silent_p.S323S	NM_000416	NP_000407	P15260	INGR1_HUMAN	interferon gamma receptor 1 precursor	351	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			upper_aerodigestive_tract(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTTCTGTTATACTAGAAAGTT	0.458000												
HECA	51696	broad.mit.edu	37	6	139488308	139488308	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:139488308G>A	uc003qin.2	+	2	1444	c.1159G>A	c.(1159-1161)GCG>ACG	p.A387T		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	387					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATTCTGGCCGCGCTCAGTGC	0.582000												
UTRN	7402	broad.mit.edu	37	6	145161969	145161969	+	Splice_Site	SNP	G	G	A	rs141700678		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:145161969G>A	uc003qkt.2	+	72	10362	c.10270_splice	c.e72+1	p.P3424_splice		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTGCTGCCGTGAGTATGAA	0.542000												
LATS1	9113	broad.mit.edu	37	6	150004778	150004778	+	Missense_Mutation	SNP	C	C	T	rs147658805	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:150004778C>T	uc003qmu.1	-	4	1995	c.1447G>A	c.(1447-1449)GCT>ACT	p.A483T	LATS1_uc010kif.1_Missense_Mutation_p.A378T|LATS1_uc003qmv.1_Missense_Mutation_p.A483T|LATS1_uc003qmw.2_Missense_Mutation_p.A483T|LATS1_uc010kig.1_Missense_Mutation_p.A378T	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	483					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)		ACTGTTGTAGCAGAAGGCTGA	0.413000												
LRP11	84918	broad.mit.edu	37	6	150164195	150164195	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:150164195G>A	uc003qng.2	-	3	1161	c.837C>T	c.(835-837)ACC>ACT	p.T279T	LRP11_uc003qnh.1_Silent_p.T279T	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	279	PKD.|Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TGTCCGTCACGGTCAGCTGGA	0.587000												
PLEKHG1	57480	broad.mit.edu	37	6	151153343	151153343	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:151153343T>C	uc003qny.1	+	16	3406	c.3094_splice	c.e16+2	p.G1032_splice	PLEKHG1_uc011eem.1_Splice_Site_p.G1091_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G						regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CCGCCATTGGTATGTGCACCC	0.532000												
SYNE1	23345	broad.mit.edu	37	6	152737985	152737985	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:152737985G>A	uc010kiw.2	-	41	6189	c.5587C>T	c.(5587-5589)CGG>TGG	p.R1863W	SYNE1_uc003qot.3_Missense_Mutation_p.R1870W|SYNE1_uc003qou.3_Missense_Mutation_p.R1863W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1846W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1863	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAAGCTGCCGCCTCTCCACA	0.602000										HNSCC(10;0.0054)		
UNC93A	54346	broad.mit.edu	37	6	167728874	167728874	+	Silent	SNP	G	G	A	rs147514798		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:167728874G>A	uc003qvq.2	+	8	1483	c.1308G>A	c.(1306-1308)CCG>CCA	p.P436P	UNC93A_uc003qvr.2_Silent_p.P394P	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	436						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAAGAACCCGATCAGACCCC	0.532000												
SMOC2	64094	broad.mit.edu	37	6	168999624	168999624	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:168999624C>T	uc003qws.1	+	8	784	c.764C>T	c.(763-765)ACG>ATG	p.T255M	SMOC2_uc003qwr.1_Missense_Mutation_p.T266M	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	255	Thyroglobulin type-1 2.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CACCCCTCCACGGGGTACTGC	0.652000												
AIMP2	7965	broad.mit.edu	37	7	6063167	6063167	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:6063167G>A	uc003spo.2	+	4	921	c.808G>A	c.(808-810)GCT>ACT	p.A270T	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	270	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1						CCCTTGGCTCGCTGGGAATGA	0.517000												
INMT	11185	broad.mit.edu	37	7	30795206	30795206	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:30795206C>T	uc003tbs.1	+	3	547	c.531C>T	c.(529-531)CGC>CGT	p.R177R	FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Silent_p.R176R	NM_006774	NP_006765	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	177						cytoplasm	amine N-methyltransferase activity				0						ATGCCTACCGCGCTGCCCTGT	0.647000												
GLI3	2737	broad.mit.edu	37	7	42187878	42187878	+	Missense_Mutation	SNP	C	C	T	rs78749834		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:42187878C>T	uc011kbh.1	-	3	405	c.314G>A	c.(313-315)CGC>CAC	p.R105H	GLI3_uc011kbg.1_Missense_Mutation_p.R46H	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	105					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						CACCGTCCCGCGGTACGGCAC	0.587000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
PGAM2	5224	broad.mit.edu	37	7	44102368	44102368	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:44102368T>C	uc003tjs.2	-	3	792	c.757A>G	c.(757-759)AAG>GAG	p.K253E		NM_000290	NP_000281	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2	253					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity				0						ACCCCTCACTTGGCCTTGCCC	0.637000												
AEBP1	165	broad.mit.edu	37	7	44144334	44144334	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:44144334C>T	uc003tkb.2	+	1	375	c.70C>T	c.(70-72)CGC>TGC	p.R24C		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	24					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						CCCTGGAGGGCGCCCGCAGAC	0.493000												
AUTS2	26053	broad.mit.edu	37	7	70255656	70255656	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:70255656C>T	uc003tvw.3	+	19	4197	c.3454C>T	c.(3454-3456)CGG>TGG	p.R1152W	AUTS2_uc003tvx.3_Missense_Mutation_p.R1128W|AUTS2_uc011keg.1_Missense_Mutation_p.R604W	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1152	His-rich.									ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCTGGACGAGCGGGAGCGCTT	0.602000												
SRCRB4D	136853	broad.mit.edu	37	7	76019509	76019509	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:76019509C>T	uc003ufb.2	-	11	1943	c.1595G>A	c.(1594-1596)CGA>CAA	p.R532Q	SRCRB4D_uc003ufa.2_Missense_Mutation_p.E34K	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	532	SRCR 4.					extracellular region|membrane	scavenger receptor activity			pancreas(1)	1						AATGGGGCCTCGGCCTGGGCC	0.647000												
DTX2	113878	broad.mit.edu	37	7	76121562	76121562	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:76121562C>A	uc003uff.3	+	6	1557	c.1001C>A	c.(1000-1002)GCG>GAG	p.A334E	DTX2_uc011kgk.1_Missense_Mutation_p.A243E|DTX2_uc003ufg.3_Missense_Mutation_p.A334E|DTX2_uc003ufh.3_Missense_Mutation_p.A334E|DTX2_uc003ufj.3_Missense_Mutation_p.A334E|DTX2_uc003ufk.3_Missense_Mutation_p.A12E	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	deltex 2 isoform a	334					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GTCCAGCAGGCGCTCGCAGGT	0.652000												
SEMA3D	223117	broad.mit.edu	37	7	84647590	84647590	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:84647590T>G	uc003uic.2	-	13	1563	c.1523A>C	c.(1522-1524)AAC>ACC	p.N508T	SEMA3D_uc010led.2_Missense_Mutation_p.N508T|SEMA3D_uc003uib.2_Missense_Mutation_p.N147T	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	508	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5						CAATTCCATGTTCAAGATGAT	0.284000												
RUNDC3B	154661	broad.mit.edu	37	7	87407118	87407118	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:87407118A>G	uc003ujb.2	+	9	1265	c.854A>G	c.(853-855)TAC>TGC	p.Y285C	RUNDC3B_uc011khd.1_Missense_Mutation_p.Y268C|RUNDC3B_uc011khe.1_Missense_Mutation_p.Y268C|RUNDC3B_uc003ujc.2_Missense_Mutation_p.Y268C|RUNDC3B_uc003ujd.2_Missense_Mutation_p.Y190C	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B isoform a	285										skin(1)	1	Esophageal squamous(14;0.00164)					TTCCAGGGTTACCTTGAAGAA	0.353000												
C7orf64	84060	broad.mit.edu	37	7	92158224	92158224	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:92158224C>T	uc003ulz.2	+	1	138	c.97C>T	c.(97-99)CCT>TCT	p.P33S	PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Missense_Mutation_p.P33S|C7orf64_uc003uma.2_Missense_Mutation_p.P33S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	33							nucleotide binding			ovary(2)	2						GGGACGACGGCCTCGTGCTGT	0.537000												
SAMD9L	219285	broad.mit.edu	37	7	92761615	92761615	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:92761615A>T	uc003umh.1	-	5	4886	c.3670T>A	c.(3670-3672)TCC>ACC	p.S1224T	SAMD9L_uc003umj.1_Missense_Mutation_p.S1224T|SAMD9L_uc003umi.1_Missense_Mutation_p.S1224T|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1224T|SAMD9L_uc003umk.1_Missense_Mutation_p.S1224T|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1224T|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1224T|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1224										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTTTTTTGGATAATTCATTT	0.378000												
PDK4	5166	broad.mit.edu	37	7	95216783	95216783	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:95216783T>G	uc003uoa.2	-	9	1248	c.928A>C	c.(928-930)ACA>CCA	p.T310P	PDK4_uc003unz.2_Missense_Mutation_p.T98P	NM_002612	NP_002603	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase 4 precursor	310	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GTGGAGTATGTATAACTAAAG	0.398000												
NPTX2	4885	broad.mit.edu	37	7	98256498	98256498	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:98256498G>A	uc003upl.2	+	4	1087	c.910G>A	c.(910-912)GTC>ATC	p.V304I		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	304	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCCTGTTTGTCAGTGACGG	0.622000												
TRRAP	8295	broad.mit.edu	37	7	98569562	98569562	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:98569562G>T	uc003upp.2	+	52	8021	c.7812G>T	c.(7810-7812)GAG>GAT	p.E2604D	TRRAP_uc011kis.1_Missense_Mutation_p.E2586D|TRRAP_uc003upr.2_Missense_Mutation_p.E2303D	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2604					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)			CTCTCCGAGAGGTGAAGGTCT	0.468000												
CDHR3	222256	broad.mit.edu	37	7	105673129	105673129	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:105673129C>T	uc003vdl.3	+	19	2752	c.2644C>T	c.(2644-2646)CAC>TAC	p.H882Y	CDHR3_uc003vdk.2_3'UTR|CDHR3_uc003vdm.3_Missense_Mutation_p.H869Y|CDHR3_uc011klt.1_Missense_Mutation_p.H794Y|CDHR3_uc003vdn.2_3'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	882	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CCCCAAACCACACCCAGGAAA	0.547000												
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:114269973A>G	uc003vhb.2	+	5	884	c.510A>G	c.(508-510)CAA>CAG	p.Q170Q	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q195Q|FOXP2_uc003vha.2_Silent_p.Q78Q|FOXP2_uc011kmu.1_Silent_p.Q187Q|FOXP2_uc011kmv.1_Silent_p.Q170Q|FOXP2_uc010ljz.1_Silent_p.Q78Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q170Q|FOXP2_uc003vgx.2_Silent_p.Q170Q|FOXP2_uc003vhd.2_Silent_p.Q170Q|FOXP2_uc003vhc.2_Silent_p.Q195Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						agcagcagcaacaacaacaac	0.164000												
WNT16	51384	broad.mit.edu	37	7	120979292	120979292	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:120979292A>G	uc003vjw.2	+	4	1248	c.991A>G	c.(991-993)ACC>GCC	p.T331A	WNT16_uc003vjv.2_Missense_Mutation_p.T321A|WNT16_uc010lkl.2_Missense_Mutation_p.T115A	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family,	331					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			lung(2)|ovary(2)|large_intestine(1)	5	all_neural(327;0.117)					AGGTTACAACACCCATGTGGT	0.532000												
GPR37	2861	broad.mit.edu	37	7	124404474	124404474	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:124404474G>A	uc003vli.2	-	1	1208	c.557C>T	c.(556-558)GCC>GTC	p.A186V		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	186	Extracellular (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						GAGTTTCCCGGCTCTCCTTGG	0.637000												
PAX4	5078	broad.mit.edu	37	7	127251170	127251170	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:127251170C>T	uc010lld.1	-	9	1186	c.980G>A	c.(979-981)GGC>GAC	p.G327D	PAX4_uc003vmf.2_Missense_Mutation_p.G325D|PAX4_uc003vmg.1_Intron	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	339	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GGCCTGAGAGCCACTAAGACT	0.582000												
CPA4	51200	broad.mit.edu	37	7	129950677	129950677	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:129950677G>A	uc003vpr.2	+	9	891	c.844G>A	c.(844-846)GCC>ACC	p.A282T	CPA4_uc011kpd.1_Missense_Mutation_p.A249T|CPA4_uc011kpe.1_Missense_Mutation_p.A178T	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4 preproprotein	282					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TGGACCCCACGCCAATTCGGA	0.493000												
CNTNAP2	26047	broad.mit.edu	37	7	147092837	147092837	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:147092837G>A	uc003weu.1	+	10	2151	c.1635G>A	c.(1633-1635)GCG>GCA	p.A545A		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	545	Extracellular (Potential).|Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAAGTTTCGCGAATGTCAGCA	0.438000										HNSCC(39;0.1)		
ZNF786	136051	broad.mit.edu	37	7	148768490	148768490	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:148768490A>C	uc003wfh.2	-	4	1511	c.1374T>G	c.(1372-1374)TGT>TGG	p.C458W	ZNF786_uc011kuk.1_Missense_Mutation_p.C421W|ZNF786_uc003wfi.2_Missense_Mutation_p.C372W	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	458	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGTTCCTGCCACACTTGGCAC	0.612000												
SSPO	23145	broad.mit.edu	37	7	149490473	149490473	+	Silent	SNP	C	C	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:149490473C>G	uc010lpk.2	+	40	5949	c.5949C>G	c.(5947-5949)GGC>GGG	p.G1983G		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	1983	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATGGGGGCCCCTGCAGGG	0.677000												
REPIN1	29803	broad.mit.edu	37	7	150069144	150069144	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:150069144C>T	uc010lpq.1	+	4	1303	c.814C>T	c.(814-816)CGC>TGC	p.R272C	REPIN1_uc003whd.2_Missense_Mutation_p.R261C|REPIN1_uc010lpr.1_Missense_Mutation_p.R329C|REPIN1_uc003whc.2_Missense_Mutation_p.R272C|REPIN1_uc003whe.2_Missense_Mutation_p.R272C	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	272	C2H2-type 7.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GTGCGGGAAGCGCTTTACCAA	0.657000												
MLL3	58508	broad.mit.edu	37	7	151845190	151845190	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:151845190G>A	uc003wla.2	-	52	14041	c.13822C>T	c.(13822-13824)CGC>TGC	p.R4608C	MLL3_uc003wkz.2_Missense_Mutation_p.R3726C|MLL3_uc003wkx.2_Missense_Mutation_p.R766C|MLL3_uc003wky.2_Missense_Mutation_p.R2172C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4608	FYR C-terminal.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AACACTGGGCGCCCATCCTTC	0.542000			N		medulloblastoma							
MYOM2	9172	broad.mit.edu	37	8	2026941	2026941	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:2026941G>A	uc003wpx.3	+	12	1527	c.1389G>A	c.(1387-1389)GCG>GCA	p.A463A	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	463	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAACAGTGCGGGCATCAGCC	0.537000												
CSGALNACT1	55790	broad.mit.edu	37	8	19362752	19362752	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:19362752G>A	uc011kyn.1	-	4	1658	c.594C>T	c.(592-594)AGC>AGT	p.S198S	CSGALNACT1_uc011kyo.1_Silent_p.S198S|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.S197S|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	198	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)		GGTGATTGGGGCTGTTCTCTG	0.532000												
FAM160B2	64760	broad.mit.edu	37	8	21959324	21959324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:21959324C>T	uc011kyx.1	+	14	1864	c.1813C>T	c.(1813-1815)CGA>TGA	p.R605*	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	605											0						CCACTTCCTCCGAGTGCTGTT	0.642000												
LGI3	203190	broad.mit.edu	37	8	22006416	22006416	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:22006416C>T	uc003xav.2	-	8	1193	c.904G>A	c.(904-906)GGC>AGC	p.G302S	LGI3_uc010ltu.2_Missense_Mutation_p.G278S	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	302	EAR 2.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ATGTAAGAGCCGCCAAACAGC	0.607000												
ENTPD4	9583	broad.mit.edu	37	8	23301979	23301979	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:23301979G>T	uc003xdl.2	-	5	717	c.553C>A	c.(553-555)CTC>ATC	p.L185I	ENTPD4_uc011kzu.1_Missense_Mutation_p.L185I|ENTPD4_uc003xdm.2_Missense_Mutation_p.L185I|ENTPD4_uc011kzv.1_Missense_Mutation_p.L185I|ENTPD4_uc011kzw.1_Missense_Mutation_p.L151I	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	185	Lumenal (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTTTCGGGGAGGATTCTCATT	0.537000												
EBF2	64641	broad.mit.edu	37	8	25899691	25899691	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:25899691C>T	uc003xes.1	-	2	225	c.208G>A	c.(208-210)GTC>ATC	p.V70I	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.V70I	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	70					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGCGCCAGGACGAAGTGAAAG	0.582000												
STMN4	81551	broad.mit.edu	37	8	27094411	27094411	+	Silent	SNP	G	G	A	rs73563904	by1000genomes	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:27094411G>A	uc003xfk.2	-	6	636	c.522C>T	c.(520-522)GCC>GCT	p.A174A	STMN4_uc003xfj.2_Silent_p.A201A|STMN4_uc011lai.1_3'UTR|STMN4_uc011laj.1_3'UTR			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	174	Potential.				intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GCACCTCCTCGGCGTGCTTGT	0.572000												
SCARA5	286133	broad.mit.edu	37	8	27824038	27824038	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:27824038G>C	uc003xgj.2	-	3	574	c.134C>G	c.(133-135)GCA>GGA	p.A45G	SCARA5_uc010luz.2_Missense_Mutation_p.A45G|SCARA5_uc003xgk.2_Intron|SCARA5_uc003xgl.2_Missense_Mutation_p.A45G	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	45	Cytoplasmic (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCAGATGCTTGCCCGCCGTTT	0.512000												
FAM110B	90362	broad.mit.edu	37	8	59058957	59058957	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:59058957C>T	uc003xtj.1	+	5	1048	c.168C>T	c.(166-168)GCC>GCT	p.A56A		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	56						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGCTGGAGGCCGACAAGGCCA	0.677000												
BHLHE22	27319	broad.mit.edu	37	8	65493706	65493706	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:65493706C>T	uc003xvi.2	+	1	893	c.359C>T	c.(358-360)CCG>CTG	p.P120L	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	120	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						AGCAGCCTGCCGGCCGGGGCC	0.612000												
PRDM14	63978	broad.mit.edu	37	8	70970930	70970930	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:70970930C>T	uc003xym.2	-	6	1533	c.1331G>A	c.(1330-1332)CGG>CAG	p.R444Q		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	444	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AAGCCGGTCCCGCTTCTCAAA	0.493000												
NCOA2	10499	broad.mit.edu	37	8	71033565	71033565	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:71033565A>C	uc003xyn.1	-	22	4517	c.4355T>G	c.(4354-4356)ATG>AGG	p.M1452R	NCOA2_uc011lfb.1_Missense_Mutation_p.M540R	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1452					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGCTTAATCATATCCATTCC	0.448000			T	RUNXBP2	AML							
NCOA2	10499	broad.mit.edu	37	8	71057031	71057031	+	Silent	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:71057031A>G	uc003xyn.1	-	13	2820	c.2658T>C	c.(2656-2658)AAT>AAC	p.N886N	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	886					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAAGTGGTAAATTCTGGTTTG	0.428000			T	RUNXBP2	AML							
LACTB2	51110	broad.mit.edu	37	8	71556377	71556377	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:71556377G>A	uc011lfd.1	-	4	607	c.515C>T	c.(514-516)ACG>ATG	p.T172M	LACTB2_uc003xyp.2_Missense_Mutation_p.T172M	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	lactamase, beta 2	172							hydrolase activity|metal ion binding			ovary(1)	1	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTCAAATACCGTTGTTCCTTC	0.348000												
KCNB2	9312	broad.mit.edu	37	8	73480329	73480329	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:73480329C>T	uc003xzb.2	+	2	948	c.360C>T	c.(358-360)GGC>GGT	p.G120G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	120	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			TTTCGTTTGGCCAAGAACTTG	0.433000												
ZFHX4	79776	broad.mit.edu	37	8	77764978	77764978	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:77764978G>A	uc003yav.2	+	10	6073	c.5686G>A	c.(5686-5688)GAA>AAA	p.E1896K	ZFHX4_uc003yau.1_Missense_Mutation_p.E1941K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1896K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1896						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)			TGGTGAAGGCGAAAACACTGA	0.383000										HNSCC(33;0.089)		
SLC7A13	157724	broad.mit.edu	37	8	87226664	87226664	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:87226664A>G	uc003ydq.1	-	4	1489	c.1391T>C	c.(1390-1392)CTC>CCC	p.L464P	SLC7A13_uc003ydr.1_3'UTR	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	464	Cytoplasmic (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						CACATCAGGGAGGCAAATATT	0.308000												
WWP1	11059	broad.mit.edu	37	8	87454932	87454932	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:87454932G>A	uc003ydt.2	+	18	2203	c.1923G>A	c.(1921-1923)CTG>CTA	p.L641L	WWP1_uc010mai.2_Silent_p.L417L	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	641	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						ACTATTGTCTGCAGATAAATC	0.343000												
RUNX1T1	862	broad.mit.edu	37	8	92983013	92983013	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:92983013G>A	uc003yfd.2	-	10	1496	c.1412C>T	c.(1411-1413)GCG>GTG	p.A471V	RUNX1T1_uc003yfc.1_Missense_Mutation_p.A444V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.A434V|RUNX1T1_uc010mao.2_Missense_Mutation_p.A444V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.A482V|RUNX1T1_uc010man.1_Missense_Mutation_p.A96V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.A434V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	471			A -> V (in a colorectal cancer sample; somatic mutation).		generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A434V(1)		lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTTCCGCTCCGCCTCAGACAC	0.622000												
UBR5	51366	broad.mit.edu	37	8	103358483	103358483	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:103358483G>A	uc003ykr.1	-	7	750	c.717C>T	c.(715-717)AGC>AGT	p.S239S	UBR5_uc003yks.1_Silent_p.S239S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	239					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATAAGATTCGCTGGCTGTAT	0.423000												
DCAF13	25879	broad.mit.edu	37	8	104453816	104453816	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:104453816A>C	uc003yln.2	+	10	1953	c.1676A>C	c.(1675-1677)CAG>CCG	p.Q559P	DCAF13_uc003ylo.2_Missense_Mutation_p.Q270P	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	WD repeats and SOF1 domain containing	407					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				breast(1)	1						ATTCAGGAACAGCGCATCATG	0.383000												
RIMS2	9699	broad.mit.edu	37	8	104513161	104513161	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:104513161C>T	uc003ylp.2	+	1	186	c.47C>T	c.(46-48)GCG>GTG	p.A16V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	16					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCATCCCGGCGGCCTCTCAG	0.657000										HNSCC(12;0.0054)		
LRP12	29967	broad.mit.edu	37	8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:105503269G>A	uc003yma.2	-	7	2307	c.2212C>T	c.(2212-2214)CGC>TGC	p.R738C	LRP12_uc003ymb.2_Missense_Mutation_p.R719C|LRP12_uc003ylz.2_Missense_Mutation_p.R144C	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	738	Cytoplasmic (Potential).				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478000												
SYBU	55638	broad.mit.edu	37	8	110631179	110631179	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:110631179T>G	uc003ynj.3	-	3	482	c.319A>C	c.(319-321)AGT>CGT	p.S107R	SYBU_uc003yni.3_Missense_Mutation_p.S104R|SYBU_uc003ynk.3_5'UTR|SYBU_uc010mco.2_Missense_Mutation_p.S106R|SYBU_uc003ynl.3_Missense_Mutation_p.S106R|SYBU_uc010mcp.2_Missense_Mutation_p.S107R|SYBU_uc010mcq.2_Missense_Mutation_p.S107R|SYBU_uc003yno.3_5'UTR|SYBU_uc010mcr.2_Missense_Mutation_p.S107R|SYBU_uc003ynm.3_Missense_Mutation_p.S106R|SYBU_uc003ynn.3_Missense_Mutation_p.S106R|SYBU_uc010mcs.2_5'UTR|SYBU_uc010mct.2_Missense_Mutation_p.S107R|SYBU_uc010mcu.2_Missense_Mutation_p.S106R|SYBU_uc003ynp.3_Missense_Mutation_p.S39R|SYBU_uc010mcv.2_Missense_Mutation_p.S107R	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	107	Sufficient for interaction with KIF5B.|Ser-rich.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CCTTCATCACTTCCAGGGCAA	0.488000												
CSMD3	114788	broad.mit.edu	37	8	113332152	113332152	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:113332152C>T	uc003ynu.2	-	46	7383	c.7224G>A	c.(7222-7224)ACG>ACA	p.T2408T	CSMD3_uc003yns.2_Silent_p.T1610T|CSMD3_uc003ynt.2_Silent_p.T2368T|CSMD3_uc011lhx.1_Silent_p.T2304T|CSMD3_uc003ynw.1_Silent_p.T119T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2408	Extracellular (Potential).|Sushi 13.					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						CATCATCTTCCGTCAAAATTT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
ZHX2	22882	broad.mit.edu	37	8	123964522	123964522	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:123964522G>A	uc003ypk.1	+	3	1339	c.772G>A	c.(772-774)GTC>ATC	p.V258I		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	258	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTGCCCAAGGTCCCTGTCCC	0.507000												
FER1L6	654463	broad.mit.edu	37	8	125074167	125074167	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:125074167T>C	uc003yqw.2	+	25	3428	c.3222T>C	c.(3220-3222)AGT>AGC	p.S1074S	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1074	Cytoplasmic (Potential).|C2 4.					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGGGAGGAGTACCCTTGTGG	0.542000												
ZFAT	57623	broad.mit.edu	37	8	135614974	135614974	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:135614974A>G	uc003yup.2	-	6	1163	c.988T>C	c.(988-990)TAT>CAT	p.Y330H	ZFAT_uc003yun.2_Missense_Mutation_p.Y318H|ZFAT_uc003yuo.2_Missense_Mutation_p.Y318H|ZFAT_uc010meh.2_Missense_Mutation_p.Y318H|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.Y318H|ZFAT_uc010mej.2_Missense_Mutation_p.Y268H|ZFAT_uc003yur.2_Missense_Mutation_p.Y318H	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	330	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AACGAGCAATAGTCGCAGGCG	0.552000												
FAM135B	51059	broad.mit.edu	37	8	139380191	139380191	+	Silent	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:139380191T>C	uc003yuy.2	-	2	207	c.36A>G	c.(34-36)GTA>GTG	p.V12V	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	12								p.V12L(1)		ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TATGTAGCTCTACCGAAAACT	0.299000										HNSCC(54;0.14)		
SLC45A4	57210	broad.mit.edu	37	8	142228357	142228357	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:142228357A>G	uc003ywd.1	-	4	1537	c.1229T>C	c.(1228-1230)ATG>ACG	p.M410T	SLC45A4_uc003ywc.1_Missense_Mutation_p.M410T|SLC45A4_uc010meq.1_Missense_Mutation_p.M408T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	461					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)			CCGCTTCTGCATGTCGTACAG	0.682000												
PTP4A3	11156	broad.mit.edu	37	8	142437061	142437061	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:142437061C>T	uc003ywg.1	+	3	555	c.221C>T	c.(220-222)GCG>GTG	p.A74V	PTP4A3_uc003ywh.1_Missense_Mutation_p.A74V|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	74						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			GACGATGGGGCGCCCCCGCCC	0.682000												
ARC	23237	broad.mit.edu	37	8	143694938	143694938	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:143694938C>T	uc003ywn.1	-	1	896	c.695G>A	c.(694-696)GGC>GAC	p.G232D		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	232					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CTCAGAGCCGCCCACCTGCCG	0.637000												
LYNX1	66004	broad.mit.edu	37	8	143846058	143846058	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:143846058C>T	uc003yxb.2	-	5	988	c.361G>A	c.(361-363)GCT>ACT	p.A121T	LYNX1_uc003yxa.2_Missense_Mutation_p.A87T	NM_023946	NP_076435	Q9BZG9	LYNX1_HUMAN	Ly-6 neurotoxin-like protein 1 isoform a	Error:Variant_position_missing_in_Q9BZG9_after_alignment						anchored to membrane|plasma membrane					0	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGCAGCAAGCGATGGATACG	0.667000												
EPPK1	83481	broad.mit.edu	37	8	144941539	144941539	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:144941539G>A	uc003zaa.1	-	1	5896	c.5883C>T	c.(5881-5883)AAC>AAT	p.N1961N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1961	Plectin 32.|Potential.					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)			GCAGCTCCTCGTTCACCAGGC	0.657000												
PLEC	5339	broad.mit.edu	37	8	144993140	144993140	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:144993140G>A	uc003zaf.1	-	32	11430	c.11260C>T	c.(11260-11262)CGC>TGC	p.R3754C	PLEC_uc003zab.1_Missense_Mutation_p.R3617C|PLEC_uc003zac.1_Missense_Mutation_p.R3621C|PLEC_uc003zad.2_Missense_Mutation_p.R3617C|PLEC_uc003zae.1_Missense_Mutation_p.R3585C|PLEC_uc003zag.1_Missense_Mutation_p.R3595C|PLEC_uc003zah.2_Missense_Mutation_p.R3603C|PLEC_uc003zaj.2_Missense_Mutation_p.R3644C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3754	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						ATGATCATGCGTTCCTTGGTC	0.617000												
OPLAH	26873	broad.mit.edu	37	8	145106642	145106642	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:145106642G>A	uc003zar.3	-	27	3790	c.3708C>T	c.(3706-3708)ACC>ACT	p.T1236T		NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1236							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGGGTACACGGTCACCGACG	0.612000												
VPS28	51160	broad.mit.edu	37	8	145649609	145649609	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:145649609C>T	uc003zcr.1	-	7	498	c.445G>A	c.(445-447)GCC>ACC	p.A149T	VPS28_uc003zcs.1_Missense_Mutation_p.A149T|VPS28_uc003zct.1_Missense_Mutation_p.A149T	NM_016208	NP_057292	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 isoform 1	149	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCATCCATGGCGCGGATCTCC	0.682000												
KANK1	23189	broad.mit.edu	37	9	730125	730125	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:730125C>T	uc003zgl.1	+	8	3422	c.2773C>T	c.(2773-2775)CCT>TCT	p.P925S	KANK1_uc003zgm.2_Missense_Mutation_p.P925S|KANK1_uc003zgn.1_Missense_Mutation_p.P925S|KANK1_uc003zgs.1_Missense_Mutation_p.P767S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	925					negative regulation of actin filament polymerization	cytoplasm				ovary(2)|central_nervous_system(1)|pancreas(1)	4		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GACATCCCAGCCTGAGCAAGA	0.517000												
ADAMTSL1	92949	broad.mit.edu	37	9	18770611	18770611	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:18770611G>A	uc003zne.3	+	17	2356	c.2229G>A	c.(2227-2229)ACG>ACA	p.T743T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	743						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GTTCCAGAACGTGTGGCGGGG	0.473000												
KIAA1161	57462	broad.mit.edu	37	9	34372397	34372397	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:34372397G>A	uc003zue.3	-	3	712	c.545C>T	c.(544-546)GCG>GTG	p.A182V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	182	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCAGTGGGCCGCCGCGTCGCC	0.692000												
FRMPD1	22844	broad.mit.edu	37	9	37729812	37729812	+	Missense_Mutation	SNP	C	C	T	rs142379512		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:37729812C>T	uc004aag.1	+	8	744	c.700C>T	c.(700-702)CGG>TGG	p.R234W	FRMPD1_uc004aah.1_Missense_Mutation_p.R234W|FRMPD1_uc011lqm.1_Missense_Mutation_p.R56W|FRMPD1_uc011lqn.1_Missense_Mutation_p.R103W	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	234	FERM.					cytoskeleton|cytosol|plasma membrane				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9				GBM - Glioblastoma multiforme(29;0.00655)		CAGCATCTCCCGGCTGCACCT	0.592000												
TMC1	117531	broad.mit.edu	37	9	75407203	75407203	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:75407203C>T	uc004aiz.1	+	17	2041	c.1501C>T	c.(1501-1503)CCA>TCA	p.P501S	TMC1_uc010moz.1_Missense_Mutation_p.P459S|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.P355S|TMC1_uc010mpa.1_Missense_Mutation_p.P355S	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	501	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						TAGCACTGGACCACCCTTTTT	0.448000												
VPS13A	23230	broad.mit.edu	37	9	79852980	79852980	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:79852980G>A	uc004akr.2	+	18	1918	c.1658G>A	c.(1657-1659)CGC>CAC	p.R553H	VPS13A_uc004akp.3_Missense_Mutation_p.R553H|VPS13A_uc004akq.3_Missense_Mutation_p.R553H|VPS13A_uc004aks.2_Missense_Mutation_p.R553H	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	553	TPR 3.				Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						GAAAAACCCCGCCTCCTGTCT	0.328000												
RASEF	158158	broad.mit.edu	37	9	85637257	85637257	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:85637257C>T	uc004amo.1	-	3	924	c.663G>A	c.(661-663)CGG>CGA	p.R221R		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	221	Potential.				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						TCACGTCTTTCCGTGTCTTAT	0.299000												
FKTN	2218	broad.mit.edu	37	9	108370221	108370221	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:108370221G>T	uc004bcr.2	+	7	985	c.769G>T	c.(769-771)GCA>TCA	p.A257S	FKTN_uc011lvx.1_Missense_Mutation_p.A257S|FKTN_uc004bcs.2_Missense_Mutation_p.A257S|FKTN_uc011lvy.1_Missense_Mutation_p.A257S|FKTN_uc010mtm.2_Missense_Mutation_p.A125S	NM_001079802	NP_001073270	O75072	FKTN_HUMAN	fukutin	257	Lumenal (Potential).				muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(2)|ovary(1)	3						AGAAGCTCGAGCATTCTTTCA	0.358000												
CTNNAL1	8727	broad.mit.edu	37	9	111753119	111753119	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:111753119C>T	uc004bdo.1	-	4	568	c.526G>A	c.(526-528)GCA>ACA	p.A176T	CTNNAL1_uc010mtt.1_Missense_Mutation_p.A176T|CTNNAL1_uc004bdp.1_Missense_Mutation_p.A176T	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	176					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		TCCATAGTTGCGAGAACCTGC	0.373000												
DFNB31	25861	broad.mit.edu	37	9	117266506	117266506	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:117266506G>A	uc004biz.3	-	1	1225	c.576C>T	c.(574-576)AAC>AAT	p.N192N	DFNB31_uc004biy.3_5'Flank|DFNB31_uc004bja.3_Silent_p.N192N|DFNB31_uc004bjb.2_Silent_p.N192N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	192	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GGGATTTGTCGTTGACGCGCA	0.478000												
TNC	3371	broad.mit.edu	37	9	117826201	117826201	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:117826201T>C	uc004bjj.3	-	12	3996	c.3634A>G	c.(3634-3636)ACC>GCC	p.T1212A	TNC_uc010mvf.2_Missense_Mutation_p.T1212A	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	1212	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CCTGGGACGGTGAGGTTCTGG	0.562000												
TLR4	7099	broad.mit.edu	37	9	120475243	120475243	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:120475243C>T	uc004bjz.2	+	3	1128	c.837C>T	c.(835-837)GGC>GGT	p.G279G	TLR4_uc004bka.2_Silent_p.G239G|TLR4_uc004bkb.2_Silent_p.G79G	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	279	Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						CTCTAGAGGGCCTGTGCAATT	0.363000												
DBC1	1620	broad.mit.edu	37	9	122000973	122000973	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:122000973G>A	uc004bkc.2	-	5	1101	c.645C>T	c.(643-645)TCC>TCT	p.S215S	DBC1_uc004bkd.2_Silent_p.S215S	NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	215	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GCAGAAGGACGGAACTCACAG	0.493000												
PPP2R4	5524	broad.mit.edu	37	9	131885404	131885404	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:131885404A>G	uc004bxm.1	+	3	470	c.203A>G	c.(202-204)TAC>TGC	p.Y68C	PPP2R4_uc004bxl.1_Missense_Mutation_p.Y68C|PPP2R4_uc011mbo.1_Missense_Mutation_p.Y68C|PPP2R4_uc010myr.1_Intron|PPP2R4_uc004bxn.1_Missense_Mutation_p.Y68C|PPP2R4_uc004bxo.1_Missense_Mutation_p.Y68C|PPP2R4_uc011mbp.1_Intron|PPP2R4_uc011mbq.1_Missense_Mutation_p.Y68C|PPP2R4_uc010mys.1_Missense_Mutation_p.Y33C	NM_178001	NP_821068	Q15257	PTPA_HUMAN	protein phosphatase 2A, regulatory subunit B'	68					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			ovary(1)|lung(1)|pancreas(1)	3		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ACCTTCGAGTACAGAGTCTCC	0.438000												
COL5A1	1289	broad.mit.edu	37	9	137694781	137694781	+	Silent	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:137694781G>A	uc004cfe.2	+	39	3436	c.3054G>A	c.(3052-3054)GGG>GGA	p.G1018G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1018	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCACCCTGGGCCCCCTGGAC	0.617000												
FCN1	2219	broad.mit.edu	37	9	137808227	137808227	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:137808227G>C	uc004cfi.2	-	2	276	c.184C>G	c.(184-186)CCA>GCA	p.P62A		NM_002003	NP_001994	O00602	FCN1_HUMAN	ficolin 1 precursor	62	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			large_intestine(1)|ovary(1)	2		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCTCCCTTTGGCCCTGGGGCC	0.647000												
SEC16A	9919	broad.mit.edu	37	9	139350543	139350543	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:139350543A>G	uc004chx.2	-	19	5935	c.5626T>C	c.(5626-5628)TGG>CGG	p.W1876R	SEC16A_uc004chs.2_5'Flank|SEC16A_uc004cht.2_5'Flank|SEC16A_uc004chu.2_Missense_Mutation_p.W61R|SEC16A_uc004chv.3_Missense_Mutation_p.W1266R|SEC16A_uc004chw.2_Missense_Mutation_p.W1876R|SEC16A_uc010nbn.2_Missense_Mutation_p.W1876R	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1698					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAACCAGCCACGTGGGTGCG	0.572000												
NPDC1	56654	broad.mit.edu	37	9	139935551	139935551	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:139935551C>T	uc004ckt.2	-	3	583	c.348G>A	c.(346-348)CCG>CCA	p.P116P	NPDC1_uc004ckr.2_Silent_p.P116P|NPDC1_uc004cks.2_Silent_p.P194P|NPDC1_uc004cku.2_Silent_p.P116P	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and	116						integral to membrane					0	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGGGTAGGGGCGGAGTTGAGT	0.672000												
HDHD1A	8226	broad.mit.edu	37	X	6968351	6968351	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:6968351G>A	uc004crv.2	-	4	750	c.673C>T	c.(673-675)CCC>TCC	p.P225S	HDHD1A_uc011mhm.1_Missense_Mutation_p.P248S|HDHD1A_uc011mhn.1_Missense_Mutation_p.P182S|HDHD1A_uc010ndl.2_3'UTR	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain	225					nucleotide metabolic process		metal ion binding|phosphatase activity				0		Colorectal(8;0.0114)|Medulloblastoma(8;0.184)				TCATAGGAGGGCAAACCAAAC	0.567000												
KAL1	3730	broad.mit.edu	37	X	8522053	8522053	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:8522053C>T	uc004csf.2	-	9	1444	c.1294G>A	c.(1294-1296)GGA>AGA	p.G432R		NM_000216	NP_000207	P23352	KALM_HUMAN	Kallmann syndrome 1 protein precursor	432	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			ovary(3)|pancreas(1)	4						AAGGGAGCTCCGACTTCCAGC	0.413000												
PDHA1	5160	broad.mit.edu	37	X	19375832	19375832	+	Silent	SNP	A	A	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:19375832A>C	uc004czg.3	+	9	1039	c.894A>C	c.(892-894)GGA>GGC	p.G298G	PDHA1_uc004czh.3_Silent_p.G333G|PDHA1_uc011mjc.1_Silent_p.G302G|PDHA1_uc011mjd.1_Silent_p.G264G|PDHA1_uc010nfk.2_Intron|PDHA1_uc010nfl.2_Silent_p.G89G	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	298					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)	GTGACCCTGGAGTCAGGTACG	0.493000												
MBTPS2	51360	broad.mit.edu	37	X	21887618	21887618	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:21887618C>A	uc004dae.2	+	7	989	c.792C>A	c.(790-792)GAC>GAA	p.D264E	MBTPS2_uc010nfr.2_5'UTR|MBTPS2_uc004dab.2_Missense_Mutation_p.D264E	NM_015884	NP_056968	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase,	264	Lumenal (Probable).				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			ovary(1)	1						TTCCCAAGGACTCTCCTGCCA	0.393000												
SHROOM4	57477	broad.mit.edu	37	X	50377350	50377350	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:50377350G>A	uc004dpe.2	-	4	1749	c.1723C>T	c.(1723-1725)CGG>TGG	p.R575W	SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R459W	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	shroom family member 4	575					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			upper_aerodigestive_tract(1)	1	Ovarian(276;0.236)					GAGCGGCCCCGGGTCCCTCCA	0.577000												
AR	367	broad.mit.edu	37	X	66941796	66941796	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:66941796T>G	uc004dwu.1	+	6	3555	c.2440T>G	c.(2440-2442)TTC>GTC	p.F814V	AR_uc004dwv.1_Missense_Mutation_p.F282V	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	813	Ligand-binding.|Interaction with MYST2.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ACTGCTACTCTTCAGCATTAG	0.488000									Androgen_Insensitivity_Syndrome			
OTUD6A	139562	broad.mit.edu	37	X	69283211	69283211	+	Silent	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:69283211C>T	uc004dxu.1	+	1	871	c.837C>T	c.(835-837)GCC>GCT	p.A279A		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	279										lung(1)|skin(1)	2						AGGCCGGCGCCGCCGGGGGCG	0.652000												
DLG3	1741	broad.mit.edu	37	X	69669655	69669655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:69669655C>T	uc004dyi.1	+	4	977	c.649C>T	c.(649-651)CGA>TGA	p.R217*	DLG3_uc004dyj.1_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	synapse-associated protein 102 isoform a	217	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			large_intestine(1)|pancreas(1)	2	Renal(35;0.156)					GGTGCGGAGGCGACAGCCTCC	0.662000												
FOXO4	4303	broad.mit.edu	37	X	70320703	70320703	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:70320703G>A	uc004dys.1	+	2	976	c.623G>A	c.(622-624)CGC>CAC	p.R208H	FOXO4_uc010nkz.2_Missense_Mutation_p.R208H|FOXO4_uc004dyt.1_Missense_Mutation_p.R153H	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	208					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)					CTCCGGGGCCGCAGTAAAGCC	0.542000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FAM133A	286499	broad.mit.edu	37	X	92964587	92964587	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:92964587G>A	uc004efr.1	+	4	482	c.169G>A	c.(169-171)GCA>ACA	p.A57T		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	57	Lys-rich.										0						AGGTTCAAAAGCATTAGCTGA	0.323000												
CXorf56	63932	broad.mit.edu	37	X	118679451	118679451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:118679451G>A	uc004erk.1	-	3	305	c.259C>T	c.(259-261)CGA>TGA	p.R87*	CXorf56_uc004erj.1_Nonsense_Mutation_p.R38*|CXorf56_uc011mtu.1_Intron	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN	hypothetical protein LOC63932	87							protein binding				0						CTGTACTGTCGTTCAATGCCT	0.353000												
MAP7D3	79649	broad.mit.edu	37	X	135318405	135318405	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:135318405C>T	uc004ezt.2	-	7	825	c.734G>A	c.(733-735)CGT>CAT	p.R245H	MAP7D3_uc004ezs.2_Missense_Mutation_p.R209H|MAP7D3_uc011mwc.1_Missense_Mutation_p.R227H|MAP7D3_uc010nsa.1_Missense_Mutation_p.R244H	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	245						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TAACTAACCACGTGGCTTCCT	0.333000												
MAGEC3	139081	broad.mit.edu	37	X	140983061	140983061	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:140983061T>A	uc011mwp.1	+	5	916	c.916T>A	c.(916-918)TCA>ACA	p.S306T	MAGEC3_uc004fbs.2_5'UTR|MAGEC3_uc010nsj.2_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3 isoform 1	306	MAGE 1.									skin(2)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCCCTGGTCAGCCTTGGC	0.463000												
FAM58A	92002	broad.mit.edu	37	X	152860068	152860068	+	Silent	SNP	C	C	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:152860068C>G	uc010nug.2	-	2	283	c.180G>C	c.(178-180)GTG>GTC	p.V60V				Q8N1B3	FA58A_HUMAN	RecName: Full=Cyclin-related protein FAM58B;	122					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCACACTGCACGATGCTGT	0.557000												
PDZD4	57595	broad.mit.edu	37	X	153071526	153071526	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:153071526C>A	uc004fiz.1	-	5	799	c.549G>T	c.(547-549)CAG>CAT	p.Q183H	PDZD4_uc004fiy.1_Missense_Mutation_p.Q108H|PDZD4_uc004fix.2_Missense_Mutation_p.Q87H|PDZD4_uc004fja.1_Missense_Mutation_p.Q189H|PDZD4_uc011mze.1_Missense_Mutation_p.Q74H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	183	PDZ.					cell cortex				breast(1)	1	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGTGCTCACCTGGATGATGC	0.617000												
L1CAM	3897	broad.mit.edu	37	X	153129872	153129872	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:153129872G>A	uc004fjb.2	-	24	3335	c.3227C>T	c.(3226-3228)ACG>ATG	p.T1076M	L1CAM_uc004fjc.2_Missense_Mutation_p.T1076M|L1CAM_uc010nuo.2_Missense_Mutation_p.T1071M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1076	Fibronectin type-III 5.|Extracellular (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCACTGCGTGTAGGAGCT	0.567000												
EMD	2010	broad.mit.edu	37	X	153609114	153609114	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:153609114T>C	uc004fkl.2	+	5	649	c.401T>C	c.(400-402)GTG>GCG	p.V134A		NM_000117	NP_000108	P50402	EMD_HUMAN	emerin	134	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCTGCAGGTGCATGATGAC	0.607000												
NLGN4Y	22829	broad.mit.edu	37	Y	16734098	16734098	+	Silent	SNP	C	C	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrY:16734098C>A	uc004ftg.2	+	2	351	c.99C>A	c.(97-99)GCC>GCA	p.A33A	NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc011nas.1_Silent_p.A33A|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.A33A|NLGN4Y_uc004fti.3_Silent_p.A33A	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	33					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CTGCTCTTGCCATCAAGTTCA	0.463000												
OTOF	9381	broad.mit.edu	37	2	26684950	26684950	+	Splice_Site	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:26684949_26684949AC>A	uc002rhk.3	-	42	5418	c.5291_splice	c.e42+1	p.G1764_splice	OTOF_uc010yla.2_Splice_Site_p.G494_splice|OTOF_uc002rhh.3_Splice_Site_p.G997_splice|OTOF_uc002rhi.3_Splice_Site_p.G1074_splice|OTOF_uc002rhj.3_Splice_Site_p.G997_splice	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1764					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTCACCCACCCCCTCACG	0.622												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
MYLK	4638	broad.mit.edu	37	3	123368044	123368045	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624												
GRB10	2887	broad.mit.edu	37	7	50771608	50771608	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome			
COPB1	1315	broad.mit.edu	37	11	14510133	14510133	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:14510132_14510132TA>T	uc001mlh.2	-	6	853	c.607_splice	c.e6-1	p.D203_splice	COPB1_uc001mli.2_Splice_Site_p.D203_splice|COPB1_uc001mlg.2_Splice_Site_p.D203_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	203					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCTCGATCCTAAAAAAAATA	0.294												
GIF	2694	broad.mit.edu	37	11	59599272	59599272	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:59599271_59599271TA>T	uc001noi.3	-	8	1122	c.1074_splice	c.e8-1	p.K358_splice		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	358					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTTTCAAATCTAAAAAAAAGT	0.338												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
MAP7D1	55700	broad.mit.edu	37	1	36643530	36643530	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:36643530delC	uc001bzz.2	+	9	1652	c.1436delC	c.(1435-1437)TCCfs	p.S479fs	MAP7D1_uc001caa.2_Frame_Shift_Del_p.S447fs|MAP7D1_uc001cab.2_Frame_Shift_Del_p.S442fs|MAP7D1_uc001cac.2_Frame_Shift_Del_p.S179fs|MAP7D1_uc001cad.2_Frame_Shift_Del_p.S25fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	479	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				AGGCCTGCCTCCCCCTGCCCC	0.647												
HORMAD1	84072	broad.mit.edu	37	1	150676776	150676776	+	Frame_Shift_Del	DEL	T	T	-	rs45439605		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:150676776delT	uc001evk.1	-	11	954	c.848delA	c.(847-849)AACfs	p.N283fs	HORMAD1_uc001evl.1_Frame_Shift_Del_p.N276fs|HORMAD1_uc001evm.1_Frame_Shift_Del_p.N203fs	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	283					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGCAGGGTTTTTTTCCTG	0.289												
FCRL3	115352	broad.mit.edu	37	1	157666009	157666010	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:157666009_157666010delAC	uc001frb.2	-	7	1244_1245	c.952_953delGT	c.(952-954)GTCfs	p.V318fs	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Frame_Shift_Del_p.V318fs|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Frame_Shift_Del_p.V44fs|FCRL3_uc001frc.1_Frame_Shift_Del_p.V318fs	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	318	Ig-like C2-type 4.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)					GGAGAATGTGACAGTCCCTGAA	0.510												
CR1	1378	broad.mit.edu	37	1	207696973	207696973	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:207696973delC	uc001hfy.2	+	5	645	c.505delC	c.(505-507)CCCfs	p.P169fs	CR1_uc009xcl.1_Frame_Shift_Del_p.P169fs|CR1_uc001hfx.2_Frame_Shift_Del_p.P169fs|CR1_uc009xcj.1_Frame_Shift_Del_p.P169fs|CR1_uc009xck.1_Frame_Shift_Del_p.P169fs	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	169	Extracellular (Potential).|Sushi 3.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						TTGTGGGCTACCCCCCACCAT	0.433												
EGR2	1959	broad.mit.edu	37	10	64573574	64573574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:64573574delC	uc010qim.1	-	3	978	c.824delG	c.(823-825)GGCfs	p.G275fs	EGR2_uc010qin.1_Frame_Shift_Del_p.G225fs|EGR2_uc001jmi.2_Frame_Shift_Del_p.G275fs|EGR2_uc010qio.1_Frame_Shift_Del_p.G288fs|EGR2_uc009xph.2_Frame_Shift_Del_p.G275fs	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a	275					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)					AGCACTGGGGCCCCCCAGGGT	0.697												
COL13A1	1305	broad.mit.edu	37	10	71690277	71690277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:71690277delA	uc001jpr.1	+	28	2155	c.1619delA	c.(1618-1620)GAAfs	p.E540fs	COL13A1_uc001jqj.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jps.1_Frame_Shift_Del_p.E511fs|COL13A1_uc001jpt.1_Frame_Shift_Del_p.E499fs|COL13A1_uc001jpu.1_Frame_Shift_Del_p.E521fs|COL13A1_uc001jpv.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jpx.1_Frame_Shift_Del_p.E518fs|COL13A1_uc001jpw.1_Frame_Shift_Del_p.E487fs|COL13A1_uc001jpy.1_Frame_Shift_Del_p.E478fs|COL13A1_uc001jpz.1_Frame_Shift_Del_p.E483fs|COL13A1_uc001jqa.1_Frame_Shift_Del_p.E480fs|COL13A1_uc001jqc.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jqb.1_Frame_Shift_Del_p.E489fs|COL13A1_uc001jql.2_Frame_Shift_Del_p.E540fs|COL13A1_uc001jqd.1_Frame_Shift_Del_p.E528fs|COL13A1_uc001jqe.1_Frame_Shift_Del_p.E523fs|COL13A1_uc001jqf.1_Frame_Shift_Del_p.E521fs|COL13A1_uc001jqg.1_Frame_Shift_Del_p.E518fs|COL13A1_uc001jqh.1_Frame_Shift_Del_p.E540fs|COL13A1_uc001jqi.1_Frame_Shift_Del_p.E540fs|COL13A1_uc010qjf.1_Frame_Shift_Del_p.E330fs	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN	alpha 1 type XIII collagen isoform 1	540	Extracellular (Potential).|Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)	GAGAAGGGGGAAAAAGGGGAG	0.637												
WAPAL	23063	broad.mit.edu	37	10	88259565	88259565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:88259565delT	uc001kdo.2	-	3	1877	c.1435delA	c.(1435-1437)AGAfs	p.R479fs	WAPAL_uc001kdn.2_Frame_Shift_Del_p.R522fs|WAPAL_uc009xsw.2_Frame_Shift_Del_p.R479fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	479	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						GTTTTAGTTCTTTTTTTGCTT	0.383												
SEMA4G	57715	broad.mit.edu	37	10	102743278	102743278	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:102743278delA	uc001krw.1	+	14	2306	c.1922delA	c.(1921-1923)GAAfs	p.E641fs	SEMA4G_uc001krv.2_RNA|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	636	Extracellular (Potential).|Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TATGCCGAGGAAAATGGCCTC	0.637												
CRY2	1408	broad.mit.edu	37	11	45869014	45869014	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:45869014delG	uc010rgn.1	+	1	58	c.36delG	c.(34-36)GCGfs	p.A12fs	CRY2_uc009ykw.2_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like) isoform 1	Error:Variant_position_missing_in_Q49AN0_after_alignment					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			central_nervous_system(1)	1						GGGGCGGAGCGGGGGTGGCTG	0.547												
BCL9L	283149	broad.mit.edu	37	11	118773106	118773106	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:118773106delG	uc001pug.2	-	6	2311	c.1346delC	c.(1345-1347)CCTfs	p.P449fs	BCL9L_uc009zal.2_Frame_Shift_Del_p.P444fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	449	Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			ovary(1)|pancreas(1)	2	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGGGGGGGAGGGGGGGCTTG	0.667												
HYOU1	10525	broad.mit.edu	37	11	118919812	118919812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:118919812delG	uc001puu.2	-	17	2103	c.1910delC	c.(1909-1911)CCAfs	p.P637fs	HYOU1_uc001put.2_Frame_Shift_Del_p.P602fs|HYOU1_uc010ryu.1_Intron|HYOU1_uc010ryv.1_Frame_Shift_Del_p.P526fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.P637fs|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Frame_Shift_Del_p.P637fs	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	637	Poly-Pro.					endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TTCAGGGGGTGGGGGCTGAGA	0.607												
GXYLT1	283464	broad.mit.edu	37	12	42481685	42481686	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:42481685_42481686insT	uc001rms.3	-	8	1450_1451	c.1225_1226insA	c.(1225-1227)ACAfs	p.T409fs	GXYLT1_uc001rmt.3_Frame_Shift_Ins_p.T378fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	409	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						TGTATGCACTGTTTTTTGTAGT	0.282												
KCNH3	23416	broad.mit.edu	37	12	49948320	49948320	+	Frame_Shift_Del	DEL	G	G	-	rs143761616		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:49948320delG	uc001ruh.1	+	11	2379	c.2119delG	c.(2119-2121)GGGfs	p.G707fs	KCNH3_uc010smj.1_Frame_Shift_Del_p.G647fs	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	707	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CCTGGGTGCTGGGGGAGGCTC	0.657												
FGD6	55785	broad.mit.edu	37	12	95486597	95486599	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:95486597_95486599delCTT	uc001tdp.3	-	16	3847_3849	c.3623_3625delAAG	c.(3622-3627)GAAGTT>GTT	p.E1208del	FGD6_uc009zsx.2_In_Frame_Del_p.E341del|FGD6_uc001tdq.1_In_Frame_Del_p.E244del	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1208					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(2)|breast(1)	3						AGAGGACTAACTTCTTCTTTATT	0.463												
NBEA	26960	broad.mit.edu	37	13	35738543	35738543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:35738543delT	uc001uvb.2	+	25	4336	c.4130delT	c.(4129-4131)ATTfs	p.I1377fs	NBEA_uc010abi.2_Frame_Shift_Del_p.I68fs	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1377						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAAATATTATTTTTGTACAT	0.328												
SLITRK1	114798	broad.mit.edu	37	13	84455330	84455331	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:84455330_84455331insC	uc001vlk.2	-	1	1198_1199	c.312_313insG	c.(310-315)GGGCTGfs	p.G104fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	104_105	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCAGCTGCAGCCCCAGAAAAG	0.460												
SLITRK6	84189	broad.mit.edu	37	13	86368589	86368589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:86368589delG	uc001vll.1	-	2	2514	c.2055delC	c.(2053-2055)CCCfs	p.P685fs	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	685	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CATGAACCATGGGGCTCACCA	0.453												
C14orf45	80127	broad.mit.edu	37	14	74489628	74489628	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:74489628delA	uc010tup.1	+	2	189	c.66delA	c.(64-66)ATAfs	p.I22fs		NM_025057	NP_079333	Q8ND07	CN045_HUMAN	hypothetical protein LOC80127	22											0				BRCA - Breast invasive adenocarcinoma(234;0.00351)		GGAAGTTAATAAAAACAGATG	0.368												
VASH1	22846	broad.mit.edu	37	14	77229171	77229171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	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												
VPS18	57617	broad.mit.edu	37	15	41191837	41191837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:41191837delC	uc001zne.2	+	4	1160	c.821delC	c.(820-822)ACCfs	p.T274fs		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	274					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCTTCTACACCCCCAAGCTG	0.622												
NEDD4	4734	broad.mit.edu	37	15	56125274	56125275	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:56125274_56125275insT	uc002adj.2	-	23	4015_4016	c.3715_3716insA	c.(3715-3717)AGAfs	p.R1239fs	NEDD4_uc002adl.2_Frame_Shift_Ins_p.R820fs|NEDD4_uc002adi.2_Frame_Shift_Ins_p.R1167fs|NEDD4_uc010ugj.1_Frame_Shift_Ins_p.R1223fs|NEDD4_uc010bfm.2_Frame_Shift_Ins_p.R1222fs|NEDD4_uc002adk.2_RNA	NM_198400	NP_006145	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally	1239	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			skin(2)|ovary(1)|breast(1)	4				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCTTATTCTTTTTTCTGAA	0.347												
TMEM8A	58986	broad.mit.edu	37	16	427749	427749	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:427749delG	uc002cgu.3	-	2	350	c.221delC	c.(220-222)CCAfs	p.P74fs	TMEM8A_uc002cgv.3_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8 (five membrane-spanning	74	Extracellular (Potential).				cell adhesion	integral to plasma membrane				central_nervous_system(2)|pancreas(1)	3						CACAGCATCTGGGGGCACGCG	0.687												
PRSS33	260429	broad.mit.edu	37	16	2835834	2835834	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2835834delG	uc002cro.1	-	3	368	c.208delC	c.(208-210)CAGfs	p.Q70fs	PRSS33_uc002crp.1_Frame_Shift_Del_p.Q70fs|PRSS33_uc010uwh.1_Frame_Shift_Del_p.Q70fs	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	protease, serine, 33 precursor	70	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						AGCACCCACTGGGGGGCGATG	0.721												
SPG7	6687	broad.mit.edu	37	16	89598886	89598886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:89598886delG	uc002fnj.2	+	9	1187	c.1166delG	c.(1165-1167)CGTfs	p.R389fs	SPG7_uc002fni.2_Frame_Shift_Del_p.R389fs	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 isoform 1	389	Mitochondrial matrix (Potential).				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGCGCTGCCCGTGTGCGGAGC	0.582												
PIK3C3	5289	broad.mit.edu	37	18	39629562	39629562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr18:39629562delA	uc002lap.2	+	21	2314	c.2256delA	c.(2254-2256)ACAfs	p.T752fs	PIK3C3_uc010xcl.1_Frame_Shift_Del_p.T689fs|PIK3C3_uc002laq.2_Frame_Shift_Del_p.T237fs|PIK3C3_uc002lar.1_Frame_Shift_Del_p.T136fs	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	catalytic phosphatidylinositol 3-kinase 3	752	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			lung(8)|ovary(1)|breast(1)	10						TTTTGCTAACAAAAACAGGTA	0.353										TSP Lung(28;0.18)		
HDGFRP2	84717	broad.mit.edu	37	19	4488752	4488752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:4488752delG	uc002mao.2	+	4	461	c.368delG	c.(367-369)CGGfs	p.R123fs	HDGFRP2_uc002map.2_Frame_Shift_Del_p.R123fs|HDGFRP2_uc010dtz.1_RNA	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	123					transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						GATGAGGACCGGGGGGTCATG	0.657												
SLC25A23	79085	broad.mit.edu	37	19	6444302	6444304	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:6444302_6444304delTTC	uc002mex.1	-	9	1222_1224	c.1080_1082delGAA	c.(1078-1083)AAGAAC>AAC	p.K360del	SLC25A23_uc010duu.1_RNA|SLC25A23_uc002meu.2_RNA|SLC25A23_uc002mev.2_RNA|SLC25A23_uc002mew.1_RNA|SLC25A23_uc010xjd.1_In_Frame_Del_p.K121del	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	solute carrier family 25, member 23	360	Solcar 2.|Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)|pancreas(1)	2						AAGCCACCAGTTCTTCAGAGTCT	0.606												
MLL4	9757	broad.mit.edu	37	19	36211899	36211899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:36211899delC	uc010eei.2	+	3	1650	c.1650delC	c.(1648-1650)GACfs	p.D550fs		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	550	Pro-rich.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGATGAAGACCCCCCCAAAC	0.592												
PPP1R13L	10848	broad.mit.edu	37	19	45889359	45889361	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:45889359_45889361delAGG	uc002pbn.2	-	9	1970_1972	c.1893_1895delCCT	c.(1891-1896)CTCCTG>CTG	p.631_632LL>L	PPP1R13L_uc002pbm.2_In_Frame_Del_p.210_211LL>L|PPP1R13L_uc002pbo.2_In_Frame_Del_p.631_632LL>L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	631_632					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)		CGCCGCGTCCAGGAGGAGCACCA	0.734												
GRLF1	2909	broad.mit.edu	37	19	47424760	47424760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:47424760delA	uc010ekv.2	+	1	2828	c.2828delA	c.(2827-2829)GAAfs	p.E943fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	943					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		GATGTGGTGGAAAAAAAGAAC	0.473												
PTOV1	53635	broad.mit.edu	37	19	50363527	50363527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:50363527delG	uc002pqf.1	+	12	1412	c.1242delG	c.(1240-1242)ATGfs	p.M414fs	PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Frame_Shift_Del_p.W359fs|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	414	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCCGTAGATGGGGGGGTAGT	0.657												
ZNF579	163033	broad.mit.edu	37	19	56089951	56089951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:56089951delC	uc002qlh.2	-	2	1108	c.1055delG	c.(1054-1056)GGCfs	p.G352fs		NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	352	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CGCCCCCTCGCCCCCCTCCGG	0.602												
ROCK2	9475	broad.mit.edu	37	2	11332397	11332397	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:11332397delT	uc002rbd.1	-	32	4489	c.4040delA	c.(4039-4041)AAGfs	p.K1347fs		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	1347	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTAGGTATCTTTTTCACCAA	0.403												
MATN3	4148	broad.mit.edu	37	2	20200211	20200211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:20200211delT	uc002rdl.2	-	5	1222	c.1159delA	c.(1159-1161)ACAfs	p.T387fs	MATN3_uc010exu.1_Frame_Shift_Del_p.T345fs	NM_002381	NP_002372	O15232	MATN3_HUMAN	matrilin 3 precursor	387	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAACATGTTTTTTTATCT	0.403												
DOK1	1796	broad.mit.edu	37	2	74783466	74783467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:74783466_74783467insC	uc002sms.2	+	5	693_694	c.671_672insC	c.(670-672)TGCfs	p.C224fs	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Frame_Shift_Ins_p.C85fs|DOK1_uc010ffo.2_Frame_Shift_Ins_p.C85fs|DOK1_uc002smt.2_Frame_Shift_Ins_p.C10fs|DOK1_uc002smu.2_Frame_Shift_Ins_p.C10fs|DOK1_uc010yrz.1_Frame_Shift_Ins_p.C213fs|DOK1_uc002smv.2_Frame_Shift_Ins_p.C85fs|DOK1_uc002smw.1_Frame_Shift_Ins_p.C10fs	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	224	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						GGCCGCCGCTGCCCCTCAGGCC	0.589												
FAHD2B	151313	broad.mit.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:97749725delG	uc002sxm.2	-	7	993	c.842delC	c.(841-843)CCAfs	p.P281fs		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	281							hydrolase activity|metal ion binding				0						ACCGACACCTGGGGGGGTCCC	0.552												
PDCD1	5133	broad.mit.edu	37	2	242795104	242795104	+	Frame_Shift_Del	DEL	G	G	-	rs41444844	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:242795104delG	uc002wcq.3	-	2	173	c.105delC	c.(103-105)CCCfs	p.P35fs	PDCD1_uc010fzs.2_5'UTR|PDCD1_uc010fzt.2_RNA	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	35	Ig-like V-type.|Extracellular (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGGAGAAGGTGGGGGGGTTCC	0.632												
SPATA2	9825	broad.mit.edu	37	20	48522803	48522803	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:48522803delG	uc010gie.2	-	3	1266	c.916delC	c.(916-918)CACfs	p.H306fs	SPATA2_uc002xuw.2_Frame_Shift_Del_p.H306fs|SPATA2_uc010zyn.1_Frame_Shift_Del_p.H169fs	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	306					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGGCTGCCGTGGGGGGAGCTG	0.647												
IL5RA	3568	broad.mit.edu	37	3	3134038	3134038	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:3134038delT	uc011ask.1	-	10	1508	c.864delA	c.(862-864)AAAfs	p.K288fs	IL5RA_uc010hbq.2_Intron|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Frame_Shift_Del_p.K288fs|IL5RA_uc011asl.1_Frame_Shift_Del_p.K288fs|IL5RA_uc011asm.1_Frame_Shift_Del_p.K288fs|IL5RA_uc010hbt.2_Frame_Shift_Del_p.K288fs|IL5RA_uc011asn.1_Frame_Shift_Del_p.K288fs|IL5RA_uc010hbu.2_Frame_Shift_Del_p.K288fs|IL5RA_uc010hbp.2_5'UTR	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	288	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGGTCATCAATTTTTCTATCT	0.408												
PLXNB1	5364	broad.mit.edu	37	3	48465485	48465485	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:48465485delC	uc003csw.2	-	3	806	c.536delG	c.(535-537)GGTfs	p.G179fs	PLXNB1_uc003csu.2_Frame_Shift_Del_p.G179fs|PLXNB1_uc003csx.2_Frame_Shift_Del_p.G179fs|PLXNB1_uc010hjx.1_RNA	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	179	Extracellular (Potential).|Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAATGCCACCCCCCACACC	0.672												
SR140	23350	broad.mit.edu	37	3	142775212	142775212	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:142775212delA	uc003evh.1	+	28	3109	c.3010delA	c.(3010-3012)AAAfs	p.K1004fs	SR140_uc003evi.1_Frame_Shift_Del_p.K595fs|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Frame_Shift_Del_p.K1003fs	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	1004					RNA processing	nucleus	nucleotide binding|RNA binding				0						TAGATCTCCTAAAAAATCAGG	0.383												
KNG1	3827	broad.mit.edu	37	3	186459703	186459704	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:186459703_186459704insA	uc011bsa.1	+	10	1730_1731	c.1518_1519insA	c.(1516-1521)CATAAAfs	p.H506fs	KNG1_uc003fqr.2_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	506_507	|His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	ACGGAAAACATAAAAATAAAGG	0.421												
GABRA2	2555	broad.mit.edu	37	4	46314590	46314590	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:46314590delT	uc003gxc.3	-	4	1072	c.399delA	c.(397-399)AAAfs	p.K133fs	GABRA2_uc010igc.2_Frame_Shift_Del_p.K133fs|GABRA2_uc011bzc.1_Frame_Shift_Del_p.K78fs|GABRA2_uc003gxe.2_Frame_Shift_Del_p.K133fs	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	133	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGCTACTGATTTTTTCCCAT	0.348												
NAA15	80155	broad.mit.edu	37	4	140270718	140270718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140270718delA	uc003ihu.1	+	7	1050	c.794delA	c.(793-795)GAAfs	p.E265fs		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	NMDA receptor regulated 1	265					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			ovary(1)|skin(1)	2						AAAGGCTTGGAAAAAGCACTC	0.333												
MAP9	79884	broad.mit.edu	37	4	156273869	156273869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:156273869delT	uc003ios.2	-	13	1964	c.1700delA	c.(1699-1701)AAGfs	p.K567fs	MAP9_uc011cin.1_Frame_Shift_Del_p.K542fs|MAP9_uc010iqa.1_RNA	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	aster-associated protein	567	Potential.				cell division|mitosis	cytoplasm|microtubule|spindle				ovary(1)|central_nervous_system(1)	2	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAAAGCTTCCTTTTTTTCATT	0.189												
FAM198B	51313	broad.mit.edu	37	4	159091773	159091773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:159091773delC	uc003ipp.3	-	2	1207	c.755delG	c.(754-756)GGCfs	p.G252fs	uc003ipu.1_5'Flank|FAM198B_uc003ipq.3_Frame_Shift_Del_p.G252fs|FAM198B_uc003ipr.3_Frame_Shift_Del_p.G252fs|FAM198B_uc003ips.2_Frame_Shift_Del_p.G252fs|uc003ipt.1_5'Flank	NM_016613	NP_057697	Q6UWH4	F198B_HUMAN	hypothetical protein LOC51313 isoform 2	252	Extracellular (Potential).					Golgi membrane|integral to membrane					0						GCCAGGTGCGCCCCCCTCCAG	0.637											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TLR3	7098	broad.mit.edu	37	4	187000149	187000149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:187000149delA	uc003iyq.2	+	3	698	c.597delA	c.(595-597)TTAfs	p.L199fs	TLR3_uc011ckz.1_5'Flank	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	199	LRR 7.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTCATCTTTAAAAAAATTAG	0.333												
KIAA0947	23379	broad.mit.edu	37	5	5441312	5441312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:5441312delA	uc003jdm.3	+	5	507	c.285delA	c.(283-285)TTAfs	p.L95fs		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	95	Potential.									ovary(1)|central_nervous_system(1)	2						TGGGATCTTTAAAAGCAGAGC	0.353												
APC	324	broad.mit.edu	37	5	112116587	112116587	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:112116587delA	uc010jby.2	+	6	1012	c.632delA	c.(631-633)GAAfs	p.E211fs	APC_uc011cvt.1_Frame_Shift_Del_p.E221fs|APC_uc003kpz.3_Frame_Shift_Del_p.E211fs|APC_uc003kpy.3_Frame_Shift_Del_p.E211fs|APC_uc010jbz.2_5'UTR	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	211	Leu-rich.|Potential.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGATATGGAAAAACGAGCA	0.353		12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)		
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139866640	139866640	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:139866640delA	uc003lfs.1	+	14	2364	c.2240delA	c.(2239-2241)CAAfs	p.Q747fs	ANKHD1_uc003lfq.1_Frame_Shift_Del_p.Q766fs|ANKHD1_uc003lfr.2_Frame_Shift_Del_p.Q747fs|ANKHD1_uc003lft.1_Frame_Shift_Del_p.Q211fs|ANKHD1_uc003lfu.1_Frame_Shift_Del_p.Q227fs|ANKHD1_uc003lfv.1_Frame_Shift_Del_p.Q77fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	747						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGGAGTGCAAAAAGGTTAG	0.398												
JARID2	3720	broad.mit.edu	37	6	15496722	15496722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:15496722delG	uc003nbj.2	+	7	1510	c.1266delG	c.(1264-1266)GTGfs	p.V422fs	JARID2_uc011diu.1_Frame_Shift_Del_p.V286fs|JARID2_uc011div.1_Frame_Shift_Del_p.V250fs|JARID2_uc011diw.1_Frame_Shift_Del_p.V384fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	422					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTAAGGAGGTGGGGGGGCGGC	0.667												
KIF13A	63971	broad.mit.edu	37	6	17837800	17837800	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:17837800delA	uc003ncg.3	-	10	950	c.845delT	c.(844-846)TTGfs	p.L282fs	KIF13A_uc003ncf.2_Frame_Shift_Del_p.L282fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.L282fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.L282fs|KIF13A_uc003ncj.2_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	282					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AACCAACCCCAAGGTTGTAAG	0.378												
PGBD1	84547	broad.mit.edu	37	6	28269912	28269913	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28269912_28269913insT	uc003nky.2	+	7	2651_2652	c.2281_2282insT	c.(2281-2283)ATTfs	p.I761fs	PGBD1_uc003nkz.2_Frame_Shift_Ins_p.I761fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	761					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						ATGGTACTCAATTTTGGTGAGC	0.406												
PRR3	80742	broad.mit.edu	37	6	30529885	30529885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:30529885delC	uc003nqi.1	+	3	810	c.444delC	c.(442-444)GACfs	p.D148fs	PRR3_uc003nqj.1_Frame_Shift_Del_p.D127fs	NM_025263	NP_079539	P79522	PRR3_HUMAN	proline-rich protein 3 isoform a	148							nucleic acid binding|zinc ion binding				0						CCAAGGATGACCCCCAGGTTA	0.488												
SLC39A7	7922	broad.mit.edu	37	6	33169042	33169042	+	Frame_Shift_Del	DEL	C	C	-	rs2975298		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:33169042delC	uc003odf.2	+	2	137	c.20delC	c.(19-21)GCCfs	p.A7fs	RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Frame_Shift_Del_p.A7fs|SLC39A7_uc011dqv.1_5'UTR|SLC39A7_uc003odh.2_5'Flank	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN	solute carrier family 39, member 7	7				A -> G (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			large_intestine(1)	1						GGCCTGGGGGCCCCCCACTGG	0.627												
SYNGAP1	8831	broad.mit.edu	37	6	33419549	33419549	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:33419549delC	uc011dri.1	+	19	4093	c.3898delC	c.(3898-3900)CCCfs	p.P1300fs	ZBTB9_uc003oeq.2_5'Flank|SYNGAP1_uc010juy.2_Frame_Shift_Del_p.P1269fs|SYNGAP1_uc010juz.2_3'UTR	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1300					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4						GAGGCAGCTTCCCCCCTTGGG	0.647												
ATG5	9474	broad.mit.edu	37	6	106634539	106634539	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:106634539delT	uc003prf.2	-	8	1057	c.704delA	c.(703-705)AAGfs	p.K235fs	ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Frame_Shift_Del_p.K157fs|ATG5_uc010kdc.2_3'UTR	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	APG5 autophagy 5-like	235					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			large_intestine(1)	1	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACTTGATTCTTTTTTTCCCC	0.368												
CITED2	10370	broad.mit.edu	37	6	139694554	139694554	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:139694554delG	uc003qip.1	-	2	772	c.528delC	c.(526-528)CCCfs	p.P176fs		NM_006079	NP_006070	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with	176	Gly-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity				0	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGAGCCGCCGGGGGTGCTGC	0.542												
PHACTR2	9749	broad.mit.edu	37	6	144095279	144095279	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:144095279delA	uc003qjq.3	+	8	1613	c.1483delA	c.(1483-1485)AAAfs	p.K495fs	PHACTR2_uc010khh.2_Frame_Shift_Del_p.K415fs|PHACTR2_uc010khi.2_Frame_Shift_Del_p.K506fs|PHACTR2_uc003qjr.3_Frame_Shift_Del_p.K426fs	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	495	RPEL 2.						actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACTAGAGGACAAAAACATCTT	0.413												
C7orf49	78996	broad.mit.edu	37	7	134851370	134851370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:134851370delA	uc003vsl.2	-	4	734	c.467delT	c.(466-468)TTCfs	p.F156fs	C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Frame_Shift_Del_p.F127fs|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Frame_Shift_Del_p.F155fs|C7orf49_uc003vso.2_Frame_Shift_Del_p.F101fs	NM_024033	NP_076938	Q9BWK5	MRI_HUMAN	modulator of retrovirus infection	156						cytoplasm				large_intestine(1)|ovary(1)	2						GCCCTAGCTGAAAAAGATCTC	0.607												
KRBA1	84626	broad.mit.edu	37	7	149430566	149430566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:149430566delC	uc003wfz.2	+	18	2922	c.2523delC	c.(2521-2523)CGCfs	p.R841fs	KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Frame_Shift_Del_p.R448fs	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	KRAB A domain containing 1	841										ovary(1)|central_nervous_system(1)	2	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGGGAGGCGCCCCCAAGGCC	0.672												
MLL3	58508	broad.mit.edu	37	7	151874092	151874093	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:151874092_151874093insT	uc003wla.2	-	38	8664_8665	c.8445_8446insA	c.(8443-8448)AAATCCfs	p.K2815fs	MLL3_uc003wkz.2_Frame_Shift_Ins_p.K1876fs|MLL3_uc003wky.2_Frame_Shift_Ins_p.K324fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2815_2816					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)		GTAACAGTGGATTTTTTCTGTG	0.322			N		medulloblastoma							
C9orf11	54586	broad.mit.edu	37	9	27294316	27294316	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:27294316delT	uc003zql.2	-	3	371	c.287delA	c.(286-288)AACfs	p.N96fs	C9orf11_uc011lnq.1_Frame_Shift_Del_p.N96fs|C9orf11_uc003zqm.2_Frame_Shift_Del_p.N96fs	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN	Acr formation associated factor isoform 1	96	Vesicular (Potential).					acrosomal membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)		CTTCTTACCGTTTTTTAGAGC	0.388												
TRPM3	80036	broad.mit.edu	37	9	73250128	73250128	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:73250128delT	uc004aid.2	-	12	1875	c.1631delA	c.(1630-1632)AAGfs	p.K544fs	TRPM3_uc004ahu.2_Frame_Shift_Del_p.K374fs|TRPM3_uc004ahv.2_Frame_Shift_Del_p.K356fs|TRPM3_uc004ahw.2_Frame_Shift_Del_p.K416fs|TRPM3_uc004ahx.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004ahy.2_Frame_Shift_Del_p.K416fs|TRPM3_uc004ahz.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004aia.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004aib.2_Frame_Shift_Del_p.K391fs|TRPM3_uc004aic.2_Frame_Shift_Del_p.K544fs	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	569	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GGTTCTTACCTTTTTGACATC	0.473												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705051	112705051	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:112705051delG	uc004bei.2	+	7	774	c.582delG	c.(580-582)GAGfs	p.E194fs	PALM2_uc004bef.2_Frame_Shift_Del_p.E196fs|PALM2_uc004beg.2_Frame_Shift_Del_p.E162fs|PALM2_uc004beh.3_Frame_Shift_Del_p.E194fs|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2 isoform 2	Error:Variant_position_missing_in_Q9Y2D5_after_alignment							enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6						TTGGCCCAGAGGGGGTCCATC	0.443												
SHOX	6473	broad.mit.edu	37	X	595491	595491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:595491delC	uc004cph.1	+	3	1107	c.416delC	c.(415-417)ACCfs	p.T139fs	SHOX_uc004cpi.2_Frame_Shift_Del_p.T139fs	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	139	Homeobox.				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCGACGAGACCCATTACCCC	0.577												
GPR82	27197	broad.mit.edu	37	X	41586414	41586415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:41586414_41586415insA	uc004dfs.1	+	3	375_376	c.135_136insA	c.(133-138)GGTAAAfs	p.G45fs	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Frame_Shift_Ins_p.G45fs|GPR82_uc004dfu.1_RNA	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	45_46	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CAAAAATAGGTAAAAAAACATC	0.371												
ZCCHC5	203430	broad.mit.edu	37	X	77913206	77913206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:77913206delG	uc004edc.1	-	2	1008	c.712delC	c.(712-714)CTGfs	p.L238fs		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	238							nucleic acid binding|zinc ion binding			ovary(1)	1						GTGTATTGCAGGGGGAAATCT	0.507												
AGRN	375790	broad.mit.edu	37	1	981861	981862	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:981860_981861G>GC	uc001ack.2	+	17	3045_3046	c.2995_2996G>GC	c.(2995-2997)gccfs	p.A999fs		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	999	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCACTGCCGGCCCCCCCCGGC	0.703												
EPHB2	2048	broad.mit.edu	37	1	23191384	23191385	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:23191383_23191384G>GC	uc009vqj.1	+	4	1126_1127	c.981_982G>GC	c.(979-984)gcgcccfs	p.A327fs	EPHB2_uc001bge.3_Frame_Shift_Ins_p.A327fs|EPHB2_uc001bgf.3_Frame_Shift_Ins_p.A327fs|EPHB2_uc010odu.2_Frame_Shift_Ins_p.A327fs|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	327	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.A327V(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCCCCTCCGCGCCCCAGGCTGT	0.639												
WDTC1	23038	broad.mit.edu	37	1	27621108	27621109	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:27621107_27621108T>TG	uc009vst.2	+	8	1395_1396	c.860_861T>TG	c.(859-861)atgfs	p.M287fs	WDTC1_uc001bno.3_Frame_Shift_Ins_p.M287fs|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	287							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.540												
ZCCHC17	51538	broad.mit.edu	37	1	31836880	31836882	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:31836879_31836881GAGA>G	uc001bsp.1	+	7	701_703	c.565_567GAGA>G	c.(565-567)gag>G	p.E189del	ZCCHC17_uc001bsq.1_In_Frame_Del_p.E181del|ZCCHC17_uc010ogf.1_In_Frame_Del_p.E191del|ZCCHC17_uc009vtu.1_In_Frame_Del_p.E165del|ZCCHC17_uc001bsr.1_In_Frame_Del_p.E189del|ZCCHC17_uc009vtv.1_In_Frame_Del_p.E165del	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	189	Lys-rich.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TTCTTTTCAGGAGAAGAAGAAAA	0.394												
CCDC24	149473	broad.mit.edu	37	1	44461462	44461464	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:44461461_44461463CAGA>C	uc001clj.3	+	7	805_807	c.634_636CAGA>C	c.(634-636)cag>C	p.Q212del	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_In_Frame_Del_p.Q176del	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	212										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCTAAAGGAACAGAAGAAGGCCA	0.571												
CLCA1	1179	broad.mit.edu	37	1	86939531	86939532	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:86939530_86939531G>GA	uc001dlt.3	+	2	682_683	c.422_423G>GA	c.(421-423)ggafs	p.G141fs	CLCA1_uc001dls.1_Frame_Shift_Ins_p.G80fs	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	141					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTCATTGCAGGAAAAAAGTTAG	0.396												
LRRC8B	23507	broad.mit.edu	37	1	90058390	90058391	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:90058389_90058390G>GA	uc001dni.3	+	7	2706_2707	c.2199_2200G>GA	c.(2197-2202)gggaaafs	p.G733fs	LRRC8B_uc001dnh.3_Frame_Shift_Ins_p.G733fs|LRRC8B_uc001dnj.3_Frame_Shift_Ins_p.G733fs	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	733						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TACTTTTGGGGAAAAATAGCTT	0.416												
GON4L	54856	broad.mit.edu	37	1	155823172	155823172	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:155823171_155823171AT>A	uc001flz.2	-	1	498	c.401_401AT>T	c.(400-402)atgfs	p.M134fs	GON4L_uc001fly.1_Frame_Shift_Del_p.M134fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fma.1_Frame_Shift_Del_p.M134fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.M134fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.M134fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.K133K(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTGAGTGTCATTTTTTTCCC	0.458												
TMEM79	84283	broad.mit.edu	37	1	156255498	156255499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:156255497_156255498G>GC	uc010phi.2	+	1	676_677	c.480_481G>GC	c.(478-483)atgcccfs	p.M160fs	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_Frame_Shift_Ins_p.M1fs|TMEM79_uc009wrw.3_Frame_Shift_Ins_p.M160fs	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	160						integral to membrane		p.R163fs*17(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAACCTTCATGCCCCCCCGGGT	0.658												
SHISA4	149345	broad.mit.edu	37	1	201859594	201859594	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:201859593_201859593TA>T	uc001gxa.3	+	2	575	c.257_257TA>T	c.(256-258)atafs	p.I86fs	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	86						integral to membrane				kidney(1)|lung(4)	5						CCCAAGACCATAGCAGGCATC	0.567												
CAMK1G	57172	broad.mit.edu	37	1	209778891	209778891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr1:209778890_209778890TG>T	uc001hhd.3	+	4	408	c.306_306TG>T	c.(304-306)ggtfs	p.G102fs	CAMK1G_uc001hhf.4_Frame_Shift_Del_p.G102fs|CAMK1G_uc001hhe.3_Frame_Shift_Del_p.G102fs	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	102	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GTGTTTCTGGTGGGGAGCTCT	0.502												
OTOF	9381	broad.mit.edu	37	2	26684950	26684950	+	Splice_Site	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:26684949_26684949AC>A	uc002rhk.3	-	42	5418	c.5291_splice	c.e42+1	p.G1764_splice	OTOF_uc010yla.2_Splice_Site_p.G494_splice|OTOF_uc002rhh.3_Splice_Site_p.G997_splice|OTOF_uc002rhi.3_Splice_Site_p.G1074_splice|OTOF_uc002rhj.3_Splice_Site_p.G997_splice	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1764					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTCACCCACCCCCTCACG	0.622												
DOK1	1796	broad.mit.edu	37	2	74783467	74783468	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:74783466_74783467G>GC	uc002sms.3	+	4	1041_1042	c.671_672G>GC	c.(670-672)tgcfs	p.C224fs	LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.3_Frame_Shift_Ins_p.C85fs|DOK1_uc010ffo.3_Frame_Shift_Ins_p.C85fs|DOK1_uc002smt.3_Frame_Shift_Ins_p.C10fs|DOK1_uc002smu.3_Frame_Shift_Ins_p.C10fs|DOK1_uc010yrz.2_Frame_Shift_Ins_p.C213fs|DOK1_uc002smw.1_Frame_Shift_Ins_p.C10fs	NM_001381	NP_001184189	Q99704	DOK1_HUMAN	Homo sapiens docking protein 1, 62kDa (downstream of tyrosine kinase 1) (DOK1), transcript variant 1, mRNA.	224	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCGCCGCTGCCCCTCAGGCC	0.589												
MRPS9	64965	broad.mit.edu	37	2	105708963	105708963	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:105708962_105708962CA>C	uc002tcn.4	+	7	823	c.755_755CA>C	c.(754-756)tcafs	p.S252fs		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	252					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACTCTTGAATCAAAAAAACAG	0.398												
DNAH7	56171	broad.mit.edu	37	2	196722321	196722321	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:196722320_196722320AT>A	uc002utj.4	-	43	8296	c.8195_8195AT>T	c.(8194-8196)attfs	p.I2732fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2732	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I2732fs*15(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCCTCAATTTTTTTCCC	0.433												
BMPR2	659	broad.mit.edu	37	2	203395573	203395573	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:203395572_203395572GA>G	uc002uzf.4	+	7	2171	c.1023_1023GA>G	c.(1021-1023)gtgfs	p.V341fs	BMPR2_uc010ftr.3_Frame_Shift_Del_p.V341fs	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	341	Protein kinase.				BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATGTCCTAGTGAAAAATGATG	0.383												
ICA1L	130026	broad.mit.edu	37	2	203693622	203693622	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:203693621_203693621CT>C	uc002uzh.1	-	2	276	c.112_112AG>G	c.(112-114)gagfs	p.E38fs	ICA1L_uc002uzi.1_Frame_Shift_Del_p.E38fs|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Frame_Shift_Del_p.E38fs|ICA1L_uc002uzk.1_Frame_Shift_Del_p.E38fs	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	38										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCATCCTCTTTTTTTCCT	0.403												
NEU4	129807	broad.mit.edu	37	2	242755772	242755773	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr2:242755771_242755772G>GC	uc002wcp.2	+	1	623_624	c.129_130G>GC	c.(127-132)gtgcccfs	p.V43fs	NEU4_uc010fzr.3_Frame_Shift_Ins_p.V30fs|NEU4_uc002wcm.3_Frame_Shift_Ins_p.V30fs|NEU4_uc002wco.2_Frame_Shift_Ins_p.V30fs|NEU4_uc002wcn.2_Frame_Shift_Ins_p.V42fs	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	30						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGCTCCCCGTGCCCCCCGGGCC	0.723												
C3orf20	84077	broad.mit.edu	37	3	14724444	14724444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:14724443_14724443GC>G	uc003byy.3	+	2	675	c.223_223GC>G	c.(223-225)gccfs	p.A75fs	C3orf20_uc003byz.3_Intron|C3orf20_uc003bza.3_Intron|C3orf20_uc003byx.2_Frame_Shift_Del_p.A75fs	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	75						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGCTTTGGAGCCCCCCTGGT	0.577												
SETD2	29072	broad.mit.edu	37	3	47161907	47161908	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:47161906_47161907C>CT	uc003cqv.3	-	2	4272_4273	c.4186_4187G>AG	c.(4186-4188)aggfs	p.R1396fs	SETD2_uc003cqs.3_Frame_Shift_Ins_p.R1407fs	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCCTGCCTCCTTTTTTTAAGA	0.391			"""N, F, S, Mis"""		clear cell renal carcinoma							
PPP4R2	151987	broad.mit.edu	37	3	73047240	73047240	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:73047239_73047239AG>A	uc003dph.1	+	1	116	c.46_46AG>A	c.(46-48)aggfs	p.R16fs	PPP4R2_uc003dpi.1_Frame_Shift_Del_p.R16fs	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	16					RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TTTTGAGAAGAGGGGGAAAAA	0.358												
ROBO2	6092	broad.mit.edu	37	3	77657038	77657039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:77657037_77657038T>TC	uc011bgk.2	+	21	3880_3881	c.3237_3238T>TC	c.(3235-3240)cctcccfs	p.P1079fs	ROBO2_uc021xat.1_Frame_Shift_Ins_p.P1091fs|ROBO2_uc003dpy.4_Frame_Shift_Ins_p.P1075fs|ROBO2_uc003dpz.3_Frame_Shift_Ins_p.P1079fs|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Frame_Shift_Ins_p.P202fs	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1075					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V1079fs*22(2)|p.V1095fs*22(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCTCTACCTCCCCCCCCAGT	0.431												
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:114058002_114058002AG>A	uc003ebi.3	-	4	2256	c.2076_2076CT>T	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGTGCCTGCAGGGGGGGTCC	0.632												
MYLK	4638	broad.mit.edu	37	3	123368044	123368045	+	Splice_Site	INS	-	-	G	rs138786404		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:123368043_123368044T>TG	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCAC	0.624												
NPHP3	27031	broad.mit.edu	37	3	132337509	132337509	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:132337508_132337508CA>C	uc003eov.4	-	10	1764	c.1384_1384TG>G	c.(1384-1386)gctfs	p.A462fs	NPHP3_uc011blr.1_Frame_Shift_Del_p.A73fs	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						ACATCTGGAGCAAAAAAGCAT	0.373												
RASA2	5922	broad.mit.edu	37	3	141326548	141326548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:141326547_141326547TA>T	uc010huq.1	+	20	1973	c.1973_1973TA>T	c.(1972-1974)gtafs	p.V658fs	RASA2_uc003etz.1_Frame_Shift_Del_p.V654fs|RASA2_uc003eua.1_Frame_Shift_Del_p.V655fs	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	654	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACAATCCCAGTAAAAAACATT	0.274												
KNG1	3827	broad.mit.edu	37	3	186459704	186459705	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr3:186459703_186459704T>TA	uc011bsa.2	+	9	1752_1753	c.1518_1519T>TA	c.(1516-1521)cataaafs	p.H506fs	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	506	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	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)	ACGGAAAACATAAAAATAAAGG	0.421												
FAM193A	8603	broad.mit.edu	37	4	2661593	2661594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:2661592_2661593A>AC	uc010ick.3	+	8	1284_1285	c.1283_1284A>AC	c.(1282-1284)gacfs	p.D428fs	FAM193A_uc003gfd.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvm.2_Frame_Shift_Ins_p.D252fs|FAM193A_uc011bvn.2_Frame_Shift_Ins_p.D228fs|FAM193A_uc010icl.3_Frame_Shift_Ins_p.D228fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Ins_p.D82fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525												
SDAD1	55153	broad.mit.edu	37	4	76891521	76891521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:76891520_76891520CT>C	uc003hje.4	-	9	944	c.825_825AG>G	c.(823-825)aagfs	p.K275fs	SDAD1_uc003hjf.4_Frame_Shift_Del_p.K178fs|SDAD1_uc011cbr.2_Frame_Shift_Del_p.K238fs	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	275					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTTTTTTCTTCTTTTTTTGTT	0.378												
MGST2	4258	broad.mit.edu	37	4	140624683	140624683	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr4:140624682_140624682TA>T	uc003ihy.3	+	3	555	c.303_303TA>T	c.(301-303)gctfs	p.A101fs	MGST2_uc021xsf.1_Frame_Shift_Del_p.A101fs|MGST2_uc010ioi.1_Frame_Shift_Del_p.A33fs|MGST2_uc021xse.1_Frame_Shift_Del_p.*78fs	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	101			A -> V (in dbSNP:rs8192111).		glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	CAGAAGCTGCTAAAAAACGGT	0.408												
CDH10	1008	broad.mit.edu	37	5	24488219	24488219	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:24488218_24488218CT>C	uc003jgr.2	-	11	2427	c.1921_1921AG>G	c.(1921-1923)gagfs	p.E641fs	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	641					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAGAGGCTCTTTTTTTCGC	0.408										HNSCC(23;0.051)		
TRIM23	373	broad.mit.edu	37	5	64910016	64910016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:64910015_64910015AT>A	uc003jty.3	-	2	362	c.276_276AT>T	c.(274-276)aatfs	p.N92fs	TRIM23_uc003jtw.3_Frame_Shift_Del_p.N92fs|TRIM23_uc003jtx.3_Frame_Shift_Del_p.N92fs	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	92					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N92K(2)|p.N92I(1)|p.N92H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATAAAGCAAAATTTTTTTTCA	0.358												
APC	324	broad.mit.edu	37	5	112175676	112175677	+	Frame_Shift_Del	DEL	AG	AG	-	rs121913334		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:112175675_112175676AAG>A	uc003kpz.4	+	16	4577_4578	c.4384_4385AAG>A	c.(4384-4386)aagfs	p.K1462fs	APC_uc011cvt.2_Frame_Shift_Del_p.K1444fs|APC_uc003kpy.4_Frame_Shift_Del_p.K1462fs|APC_uc010jbz.3_Frame_Shift_Del_p.K1179fs|APC_uc010jca.3_Frame_Shift_Del_p.K762fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1462	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1465fs*3(16)|p.K1462fs*6(5)|p.E1461*(3)|p.K1462fs*5(2)|p.K1462fs*10(2)|p.?(1)|p.K1454fs*3(1)|p.K1192fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TACTGCTGAAAAGAGAGAGAGT	0.450		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)		
SLC27A6	28965	broad.mit.edu	37	5	128359397	128359397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:128359396_128359396GA>G	uc003kuy.3	+	6	1644	c.1248_1248GA>G	c.(1246-1248)gtgfs	p.V416fs	SLC27A6_uc003kuz.3_Frame_Shift_Del_p.V416fs	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	416					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTATTCATGTGAAAAAAGGTA	0.383												
THG1L	54974	broad.mit.edu	37	5	157166440	157166440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:157166439_157166439CG>C	uc003lxd.3	+	5	972	c.846_846CG>C	c.(844-846)atcfs	p.I282fs	THG1L_uc011ddu.2_Frame_Shift_Del_p.I150fs|AK000953_uc021ygr.1_5'Flank	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Homo sapiens tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) (THG1L), mRNA.	282					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGATATCATCGGGGATGCTT	0.488												
SNCB	6620	broad.mit.edu	37	5	176053506	176053507	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr5:176053505_176053506G>GT	uc010jke.1	-	1	772_773	c.378_379C>AC	c.(376-381)aaaccafs	p.K126fs	SNCB_uc021yij.1_Frame_Shift_Ins_p.T59fs|SNCB_uc003mep.3_Frame_Shift_Ins_p.T59fs|SNCB_uc003meq.3_Frame_Shift_Ins_p.T59fs|SNCB_uc021yig.1_Frame_Shift_Ins_p.T45fs|SNCB_uc021yih.1_Frame_Shift_Ins_p.T59fs|SNCB_uc021yii.1_Frame_Shift_Ins_p.T45fs			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity	p.T59N(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTTCCTTGGTTTTTTCAGCC	0.594												
WRNIP1	56897	broad.mit.edu	37	6	2785352	2785352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:2785351_2785351GC>G	uc003mtz.3	+	6	2024	c.1833_1833GC>G	c.(1831-1833)ctgfs	p.L611fs	WRNIP1_uc003mua.3_Frame_Shift_Del_p.L586fs	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	611					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGGGGCCACTGCCCCCCGTGC	0.587												
PGBD1	84547	broad.mit.edu	37	6	28269913	28269914	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:28269912_28269913A>AT	uc003nky.3	+	6	2701_2702	c.2281_2282A>AT	c.(2281-2283)attfs	p.I761fs	PGBD1_uc003nkz.3_Frame_Shift_Ins_p.I761fs	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	761					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGGTACTCAATTTTGGTGAGC	0.406												
RGL2	5863	broad.mit.edu	37	6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:33263964_33263965G>GC	uc003odv.3	-	5	1168_1169	c.608_609C>GC	c.(607-609)ggcfs	p.G203fs	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Frame_Shift_Ins_p.G121fs|RGL2_uc011drb.2_Frame_Shift_Ins_p.G121fs	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	203	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGTCAGCGCTGCCCCCCCCAAC	0.653												
SNRPC	6631	broad.mit.edu	37	6	34735762	34735763	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:34735761_34735762T>TC	uc003ojt.2	+	3	687_688	c.237_238T>TC	c.(235-240)cctcccfs	p.P79fs	SNRPC_uc021yyv.1_Frame_Shift_Ins_p.P38fs|SNRPC_uc021yyw.1_Frame_Shift_Ins_p.P100fs	NM_003093	NP_003084	P09234	RU1C_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA.	79					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGATACCACCTCCCCCCAGCCT	0.470												
COL9A1	1297	broad.mit.edu	37	6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:70991120_70991120AG>A	uc003pfg.4	-	7	1008	c.849_849CT>T	c.(847-849)cctfs	p.P283fs	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Frame_Shift_Del_p.P40fs	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGGAACTCCAGGGGGGCCCG	0.597												
UTRN	7402	broad.mit.edu	37	6	144843173	144843175	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:144843172_144843174ACTT>A	uc003qkt.3	+	38	5690_5692	c.5598_5600ACTT>A	c.(5596-5601)tcactt>tcAt	p.L1868del		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1868					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.L1868F(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTAGATCATCACTTCTTCCTACA	0.310												
AKAP12	9590	broad.mit.edu	37	6	151672365	151672365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:151672364_151672364AC>A	uc011eep.2	+	3	3078	c.2838_2838AC>A	c.(2836-2838)gaafs	p.E946fs	AKAP12_uc003qoe.3_Frame_Shift_Del_p.E946fs|AKAP12_uc003qof.3_Frame_Shift_Del_p.E848fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Del_p.E841fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	946				E -> G (in Ref. 4; CAH18338).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAAGAAGAACCCCCCACGG	0.527												
RNASET2	8635	broad.mit.edu	37	6	167352430	167352432	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr6:167352429_167352431ACTT>A	uc003qve.3	-	5	805_807	c.398_400AAGT>T	c.(397-402)aagtac>aTac	p.133_134KY>I	RNASET2_uc003qvf.3_In_Frame_Del_p.41_42KY>I|RNASET2_uc003qvi.1_In_Frame_Del_p.S21del	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	133					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		CTGCCAAAGTACTTCTTCTGGGA	0.567												
POLM	27434	broad.mit.edu	37	7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	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)				
GRB10	2887	broad.mit.edu	37	7	50771608	50771608	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:50771607_50771607TA>T	uc003tpi.2	-	2	98	c.52_splice	c.e2-1	p.D18_splice	GRB10_uc003tph.3_Splice_Site|GRB10_uc003tpj.2_Splice_Site_p.D18_splice|GRB10_uc003tpk.2_Splice_Site_p.D18_splice|GRB10_uc010kzb.2_Splice_Site|GRB10_uc003tpl.2_Splice_Site_p.D12_splice|GRB10_uc003tpm.2_Splice_Site	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	18					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCTTGTCCTAAAAAAACAG	0.527									Russell-Silver syndrome			
COBL	23242	broad.mit.edu	37	7	51287562	51287563	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:51287561_51287562T>TG	uc003tps.3	-	1	306_307	c.121_122A>CA	c.(121-123)cacfs	p.H41fs	COBL_uc003tpr.4_Frame_Shift_Ins_p.H41fs|COBL_uc011kcl.2_Frame_Shift_Ins_p.H41fs|COBL_uc010kzc.3_Frame_Shift_Ins_p.H41fs|COBL_uc003tpt.3_Frame_Shift_Ins_p.H41fs	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	41										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604												
SLC12A9	56996	broad.mit.edu	37	7	100452360	100452361	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:100452359_100452360A>AG	uc003uwp.3	+	2	441_442	c.299_300A>AG	c.(298-300)cagfs	p.Q100fs	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.3_Intron|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	100						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGAGCCGTGCAGGGGGGCGGAG	0.614												
FOXP2	93986	broad.mit.edu	37	7	114303520	114303521	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:114303519_114303520T>TA	uc003vhb.3	+	14	2158_2159	c.1784_1785T>TA	c.(1783-1785)gtafs	p.V595fs	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Frame_Shift_Ins_p.V620fs|FOXP2_uc003vha.3_Frame_Shift_Ins_p.V503fs|FOXP2_uc011kmv.2_Frame_Shift_Ins_p.V594fs|FOXP2_uc011kmu.2_Frame_Shift_Ins_p.V612fs|FOXP2_uc010ljz.2_Frame_Shift_Ins_p.V410fs|FOXP2_uc003vhe.1_Frame_Shift_Ins_p.V165fs	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	595					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CCAACCTTAGTAAAAAATATAC	0.322												
ARHGEF5	7984	broad.mit.edu	37	7	144075858	144075858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:144075857_144075857TC>T	uc003wel.3	+	13	4652	c.4534_4534TC>T	c.(4534-4536)tccfs	p.S1512fs	ARHGEF5_uc003wem.3_Frame_Shift_Del_p.S313fs	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1512					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCCAAAGACTCCCCCCAGGT	0.557												
MLL3	58508	broad.mit.edu	37	7	151874093	151874094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr7:151874092_151874093A>AT	uc003wla.3	-	37	8664_8665	c.8445_8446T>AT	c.(8443-8448)aaatccfs	p.K2815fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.K1876fs|MLL3_uc003wky.3_Frame_Shift_Ins_p.K324fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2815					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)		GTAACAGTGGATTTTTTCTGTG	0.322			N		medulloblastoma							
MSR1	4481	broad.mit.edu	37	8	16012628	16012628	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:16012627_16012627CT>C	uc010lsu.3	-	5	962	c.898_898AG>G	c.(898-900)ggafs	p.G300fs	MSR1_uc003wwz.3_Frame_Shift_Del_p.G282fs|MSR1_uc003wxa.3_Frame_Shift_Del_p.G282fs|MSR1_uc003wxb.3_Frame_Shift_Del_p.G282fs|MSR1_uc011kxz.2_Frame_Shift_Del_p.G56fs	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	282	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G300C(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCTCGATCTCCTTTTTCACCC	0.403												
WHSC1L1	54904	broad.mit.edu	37	8	38205208	38205209	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:38205207_38205208GAT>G	uc003xli.3	-	1	1000_1001	c.482_483ATC>C	c.(481-483)atcfs	p.I161fs	WHSC1L1_uc011lbm.2_Frame_Shift_Del_p.I161fs|WHSC1L1_uc010lwe.3_Frame_Shift_Del_p.I161fs|WHSC1L1_uc003xlj.3_Frame_Shift_Del_p.I161fs	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	161					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCCATTCTGGATAGTTTTGGT	0.436			T	NUP98	AML							
ZFHX4	79776	broad.mit.edu	37	8	77767090	77767091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:77767089_77767090G>GA	uc003yau.2	+	9	8319_8320	c.7932_7933G>GA	c.(7930-7935)ctgaaafs	p.L2644fs	ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L2599fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2645G(1)|p.R2643R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGTCGGGCTGAAAAAAAGGGT	0.515										HNSCC(33;0.089)		
PKHD1L1	93035	broad.mit.edu	37	8	110457588	110457589	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:110457587_110457588G>GC	uc003yne.3	+	37	5593_5594	c.5489_5490G>GC	c.(5488-5490)agcfs	p.S1830fs		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1830					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTGTCAGCAGCCCCCCAGTAG	0.495										HNSCC(38;0.096)		
SNTB1	6641	broad.mit.edu	37	8	121706031	121706032	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr8:121706030_121706031C>CG	uc010mdg.3	-	1	915_916	c.689_690G>CG	c.(688-690)ccgfs	p.P230fs	SNTB1_uc003ype.3_Frame_Shift_Ins_p.P230fs	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	230	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACTGCGATGACGGGGGGTCTGA	0.584												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:125861041_125861042T>TA	uc011lzh.2	+	22	2915_2916	c.2781_2782T>TA	c.(2779-2784)attaaafs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Ins_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACAG	0.396												
ASS1	445	broad.mit.edu	37	9	133339541	133339542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr9:133339540_133339541G>GC	uc010mza.3	+	5	1142_1143	c.634_635G>GC	c.(634-636)gccfs	p.A212fs	ASS1_uc004bzm.3_Frame_Shift_Ins_p.A136fs|ASS1_uc004bzn.3_Frame_Shift_Ins_p.A136fs	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	136					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CTACTCACTGGCCCCCCAGATA	0.594												
LRRC27	80313	broad.mit.edu	37	10	134147117	134147117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr10:134147116_134147116AC>A	uc010quw.1	+	1	283	c.88_88AC>A	c.(88-90)accfs	p.T30fs	STK32C_uc010quu.1_5'Flank|STK32C_uc009ybc.1_5'Flank|STK32C_uc009ybd.1_5'Flank|LRRC27_uc001llf.2_Frame_Shift_Del_p.T30fs|LRRC27_uc010quv.1_Frame_Shift_Del_p.T30fs|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Frame_Shift_Del_p.T30fs|LRRC27_uc001llj.2_5'Flank	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	30										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTTGCCTGCCACCCCCTCCAA	0.542												
ZNF214	7761	broad.mit.edu	37	11	7022420	7022420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:7022419_7022419GC>G	uc009yfh.1	-	2	794	c.495_495GC>C	c.(493-495)ggcfs	p.G165fs	ZNF214_uc001mfa.2_Frame_Shift_Del_p.G165fs|ZNF214_uc010ray.1_Frame_Shift_Del_p.G165fs	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GACGGTATCTGCCCCCTTGAA	0.413												
GIF	2694	broad.mit.edu	37	11	59599272	59599272	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:59599271_59599271TA>T	uc001noi.3	-	8	1122	c.1074_splice	c.e8-1	p.K358_splice		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	358					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTTTCAAATCTAAAAAAAAGT	0.338												
RARRES3	5920	broad.mit.edu	37	11	63313709	63313710	+	Frame_Shift_Ins	INS	-	-	A	rs74932327		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:63313708_63313709C>CA	uc001nxf.4	+	3	543_544	c.475_476C>CA	c.(475-477)caafs	p.Q159fs		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	159					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TAGGAGATACCAAAAAAAAGCG	0.540												
EFEMP2	30008	broad.mit.edu	37	11	65634501	65634501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:65634500_65634500GC>G	uc001ofy.4	-	10	1480	c.1221_1221GC>C	c.(1219-1221)ggcfs	p.G407fs	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	407					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		ACTCCCGGGGGCCCGTCACCG	0.607												
FADD	8772	broad.mit.edu	37	11	70052405	70052406	+	Frame_Shift_Del	DEL	AG	AG	-	rs150178083		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:70052404_70052405CAG>C	uc001opm.2	+	1	749_750	c.452_453CAG>C	c.(451-453)acafs	p.T151fs		NM_003824	NP_003815	Q13158	FADD_HUMAN	Homo sapiens Fas (TNFRSF6)-associated via death domain (FADD), mRNA.	151	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TGGAAGAACACAGAGAAGGAGA	0.579												
C11orf57	55216	broad.mit.edu	37	11	111953628	111953631	+	Frame_Shift_Del	DEL	ACAA	ACAA	-	rs143693721		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:111953627_111953630GACAA>G	uc001pmw.4	+	5	936_939	c.813_816GACAA>G	c.(811-816)aggacafs	p.R271fs	C11orf57_uc001pmr.4_Frame_Shift_Del_p.R270fs|C11orf57_uc001pmt.4_Frame_Shift_Del_p.R271fs|C11orf57_uc001pmv.4_Frame_Shift_Del_p.R270fs|C11orf57_uc001pms.4_Frame_Shift_Del_p.R242fs	NM_001082969	NP_060665	Q6ZUT1	CK057_HUMAN	Homo sapiens chromosome 11 open reading frame 57 (C11orf57), transcript variant 2, mRNA.	270										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		TACAGGAGAGGACAAACAAACGCA	0.412												
C1QTNF5	114902	broad.mit.edu	37	11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:119210189_119210190G>GC	uc001pwj.2	-	14	3379_3380	c.583_584C>GC	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589												
SRPR	6734	broad.mit.edu	37	11	126137087	126137088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr11:126137086_126137087C>CT	uc001qdh.3	-	3	687_688	c.509_510G>AG	c.(508-510)aagfs	p.K170fs	SRPR_uc010sbm.2_Frame_Shift_Ins_p.K142fs|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	170					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.K170fs*33(4)|p.K170K(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCTTGGCCCCCTTTTTTTTGCT	0.436												
GXYLT1	283464	broad.mit.edu	37	12	42481686	42481687	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:42481685_42481686G>GT	uc001rms.4	-	7	1450_1451	c.1225_1226C>AC	c.(1225-1227)acafs	p.T409fs	GXYLT1_uc001rmt.4_Frame_Shift_Ins_p.T378fs	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	409					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.T409fs*17(2)|p.K408I(1)|p.T378fs*17(1)		kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TGTATGCACTGTTTTTTGTAGT	0.282												
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATG	0.607												
TMEM132D	121256	broad.mit.edu	37	12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr12:130184704_130184704TG>T	uc009zyl.1	-	1	947	c.619_619CA>A	c.(619-621)acgfs	p.T207fs		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	207						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCAACCACCGTGGGGGGGCTG	0.711												
XPO4	64328	broad.mit.edu	37	13	21371027	21371027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:21371026_21371026TA>T	uc001unq.4	-	16	2529	c.2493_2493TA>A	c.(2491-2493)ttafs	p.L831fs		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	831					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GGAAGTCCATTAAAAAATTAA	0.408												
SLITRK1	114798	broad.mit.edu	37	13	84455331	84455332	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr13:84455330_84455331G>GC	uc001vlk.3	-	0	1198_1199	c.312_313C>GC	c.(310-315)gggctgfs	p.G104fs		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	104						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ACCAGCTGCAGCCCCAGAAAAG	0.460												
TRIM9	114088	broad.mit.edu	37	14	51561516	51561516	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:51561515_51561515TG>T	uc001wyx.4	-	0	908	c.143_143CA>A	c.(142-144)cagfs	p.Q48fs	TRIM9_uc001wyy.2_Frame_Shift_Del_p.Q48fs|TRIM9_uc001wyz.4_Frame_Shift_Del_p.Q48fs	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	48					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCGATGGCTCTGGGGGGATTC	0.612												
PNMA1	9240	broad.mit.edu	37	14	74179511	74179512	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr14:74179510_74179511TTC>T	uc001xor.1	-	0	1618_1619	c.832_833GAA>A	c.(832-834)aagfs	p.K278fs		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA.	278					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		aatggcccccttctctaccacc	0.530												
DISP2	85455	broad.mit.edu	37	15	40660038	40660039	+	Frame_Shift_Ins	INS	-	-	G	rs75662097	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:40660037_40660038C>CG	uc001zlk.1	+	7	1813_1814	c.1724_1725C>CG	c.(1723-1725)tcgfs	p.S575fs		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	575	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGCTGCCGTCGGGGGGGCTGG	0.663												
TTBK2	146057	broad.mit.edu	37	15	43044962	43044962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:43044961_43044961GT>G	uc001zqo.2	-	13	2922	c.2483_2483AC>C	c.(2482-2484)acafs	p.T828fs	TTBK2_uc010bcy.2_Frame_Shift_Del_p.T759fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	828					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAAAGTCTGTGTTTTTGTCAC	0.403												
CCPG1	9236	broad.mit.edu	37	15	55651780	55651781	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:55651779_55651780C>CTA	uc010bfk.2	-	7	2490_2491	c.2191_2192G>TAG	c.(2191-2193)agafs	p.R731fs	CCPG1_uc002acy.3_Frame_Shift_Ins_p.R731fs|CCPG1_uc002acu.2_Frame_Shift_Ins_p.R587fs|CCPG1_uc002acz.2_Frame_Shift_Ins_p.R731fs|CCPG1_uc002acw.2_Frame_Shift_Ins_p.R456fs|CCPG1_uc002acx.3_Frame_Shift_Ins_p.R348fs|CCPG1_uc002acv.2_Frame_Shift_Ins_p.R731fs|CCPG1_uc021smu.1_Frame_Shift_Ins_p.R351fs	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	731					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAAGAAGTGTCTATATATATAT	0.337												
NEDD4	4734	broad.mit.edu	37	15	56125275	56125276	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:56125274_56125275C>CT	uc002adj.3	-	22	4015_4016	c.3715_3716G>AG	c.(3715-3717)agafs	p.R1239fs	NEDD4_uc002adl.3_Frame_Shift_Ins_p.R820fs|NEDD4_uc002adi.3_Frame_Shift_Ins_p.R1167fs|NEDD4_uc010ugj.2_Frame_Shift_Ins_p.R1223fs|NEDD4_uc010bfm.3_Frame_Shift_Ins_p.R1222fs|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1239	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCTTATTCTTTTTTCTGAA	0.347												
MCTP2	55784	broad.mit.edu	37	15	94945156	94945156	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr15:94945155_94945155GA>G	uc002btj.3	+	15	2057	c.1992_1992GA>G	c.(1990-1992)gtgfs	p.V664fs	MCTP2_uc010boj.3_Frame_Shift_Del_p.V393fs|MCTP2_uc010bok.3_Frame_Shift_Del_p.V664fs|MCTP2_uc002btk.4_Frame_Shift_Del_p.V252fs|MCTP2_uc002btl.3_Frame_Shift_Del_p.V252fs	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	664					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGACCGTGTGAAAAGAATCA	0.363												
AMDHD2	51005	broad.mit.edu	37	16	2578619	2578620	+	Frame_Shift_Ins	INS	-	-	C	rs142686134		TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:2578618_2578619A>AC	uc010uwc.2	+	7	1125_1126	c.1028_1029A>AC	c.(1027-1029)gacfs	p.D343fs	AMDHD2_uc002cqp.3_Frame_Shift_Ins_p.D343fs|AMDHD2_uc002cqq.3_Intron|AMDHD2_uc010uwd.2_Frame_Shift_Ins_p.D107fs	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	323					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTGGCCCACGACCCCCCCAGAG	0.663												
ATXN2L	11273	broad.mit.edu	37	16	28846491	28846491	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:28846490_28846490AC>A	uc002dqy.3	+	18	2712	c.2545_2545AC>A	c.(2545-2547)accfs	p.T849fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.T855fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.T849fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.T258fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.T131fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	849						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGAGCAGCCTACCCCCCAAGC	0.627												
MVP	9961	broad.mit.edu	37	16	29841900	29841900	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:29841899_29841899TC>T	uc002dui.3	+	1	181	c.29_29TC>T	c.(28-30)atcfs	p.I10fs	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Frame_Shift_Del_p.I10fs|MVP_uc010vea.2_5'Flank	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	10					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						ATCATCCGCATCCCCCCATAC	0.562												
PRSS53	339105	broad.mit.edu	37	16	31097488	31097488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:31097487_31097487AG>A	uc002eaq.3	-	5	681	c.681_681CT>T	c.(679-681)cctfs	p.P227fs	PRSS53_uc002ear.3_Frame_Shift_Del_p.P21fs	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	227	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						GGCACAGCACAGGGCCCCCGG	0.602												
KIAA0182	23199	broad.mit.edu	37	16	85682290	85682291	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr16:85682289_85682290A>ACC	uc002fix.3	+	2	432_433	c.358_359A>ACC	c.(358-360)accfs	p.T120fs	KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	120							protein binding	p.V123fs*2(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CGTGCCCAGCACCCCCCCCGTG	0.688												
VTN	7448	broad.mit.edu	37	17	26696773	26696773	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:26696772_26696772GC>G	uc002hbc.3	-	2	434	c.285_285GC>C	c.(283-285)ggcfs	p.G95fs	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	95					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCAGGGAGGGGCCCCCCACCT	0.592												
SUPT6H	6830	broad.mit.edu	37	17	27028588	27028588	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:27028587_27028587AC>A	uc010crt.3	+	37	5317	c.5125_5125AC>A	c.(5125-5127)accfs	p.T1709fs	SUPT6H_uc002hby.3_Frame_Shift_Del_p.T1709fs	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1709					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCGAAAGCACCCCCATGTC	0.617												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
BPTF	2186	broad.mit.edu	37	17	65940454	65940455	+	In_Frame_Ins	INS	-	-	CAC			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:65940453_65940454G>GCAC	uc002jgf.3	+	19	6726_6727	c.6665_6666G>GCAC	c.(6664-6666)agc>aGCAC	p.S2222S	BPTF_uc002jge.3_In_Frame_Ins_p.S2348S|BPTF_uc021uca.1_In_Frame_Ins_p.S22S|BPTF_uc002jgg.3_In_Frame_Ins_p.S22S	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2348					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCACAGCCAGCACCACCACCA	0.550												
GGA3	23163	broad.mit.edu	37	17	73239175	73239175	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:73239174_73239174GT>G	uc002jni.2	-	5	537	c.498_498AC>C	c.(496-498)aacfs	p.N166fs	GGA3_uc002jnk.2_Frame_Shift_Del_p.N94fs|GGA3_uc002jnj.2_Frame_Shift_Del_p.N133fs|GGA3_uc010wry.2_Frame_Shift_Del_p.N94fs|GGA3_uc010wrw.2_Frame_Shift_Del_p.N44fs|GGA3_uc010wrx.2_Frame_Shift_Del_p.N44fs|GGA3_uc010wrz.2_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	166	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CAAAAACAGGGTTTTTGGGAC	0.542												
LRRC45	201255	broad.mit.edu	37	17	79983283	79983283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr17:79983282_79983282TG>T	uc002kde.3	+	4	800	c.560_560TG>T	c.(559-561)ctgfs	p.L187fs	STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA.	187						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GTTGGCCTCCTGGGGGGCCGG	0.627												
MRI1	84245	broad.mit.edu	37	19	13882968	13882968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:13882967_13882967AC>A	uc002mxe.3	+	5	1048	c.982_982AC>A	c.(982-984)accfs	p.T328fs	MRI1_uc002mxf.3_Frame_Shift_Del_p.T281fs|C19orf53_uc002mxg.3_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	328					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTTCGATGTCACCCCCCACGA	0.557												
ZNF43	7594	broad.mit.edu	37	19	22002026	22002026	+	Splice_Site	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:22002025_22002025TA>T	uc002nqj.3	-	2	134	c.4_splice	c.e2-1	p.G2_splice	ZNF43_uc002nql.3_Splice_Site|ZNF43_uc002nqm.3_Splice_Site|ZNF43_uc010ecv.3_Splice_Site|ZNF43_uc002nqk.3_Intron	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CAATGGTCCCTAAAAAAAACA	0.383												
PPP1R13L	10848	broad.mit.edu	37	19	45900173	45900173	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:45900172_45900172TG>T	uc002pbn.3	-	3	420	c.343_343CA>A	c.(343-345)aagfs	p.K115fs	PPP1R13L_uc002pbo.3_Frame_Shift_Del_p.K115fs|PPP1R13L_uc002pbp.2_Frame_Shift_Del_p.K115fs	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	115	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTCCCTTGGGGGACAGC	0.746												
BAX	581	broad.mit.edu	37	19	49458971	49458972	+	Frame_Shift_Ins	INS	-	-	G	rs141306106	byFrequency	TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr19:49458970_49458971T>TG	uc002plk.3	+	2	182_183	c.113_114T>TG	c.(112-114)atgfs	p.M38fs	BAX_uc002plf.1_Frame_Shift_Ins_p.M38fs|BAX_uc002plg.1_Frame_Shift_Ins_p.M1fs|BAX_uc002plh.1_Intron|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Frame_Shift_Ins_p.M38fs|BAX_uc002pll.3_Intron|BAX_uc002plm.3_Intron	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	38					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.E41fs*19(1)|p.R37*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GCAGGGCGAATGGGGGGGGAGG	0.594												
DEFB127	140850	broad.mit.edu	37	20	139607	139608	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:139606_139607C>CT	uc002wcy.1	+	1	241_242	c.241_242C>CT	c.(241-243)cttfs	p.L81fs		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	Homo sapiens defensin, beta 127 (DEFB127), mRNA.	81					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TGCACTGACTCTTCAAGACTAT	0.376												
PTPRT	11122	broad.mit.edu	37	20	41306553	41306553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:41306552_41306552AC>A	uc002xkg.3	-	6	1291	c.1107_1107GT>T	c.(1105-1107)ggtfs	p.G369fs	PTPRT_uc010ggj.3_Frame_Shift_Del_p.G369fs	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	369	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			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)				GCGGTCCCGTACCCCCCTCAC	0.547												
TSHZ2	128553	broad.mit.edu	37	20	51871592	51871592	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:51871591_51871591CA>C	uc002xwo.3	+	1	2481	c.1594_1594CA>C	c.(1594-1596)caafs	p.Q532fs	TSHZ2_uc021wex.1_Frame_Shift_Del_p.Q529fs	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	532					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAACAAAGCCCAAAACGGGGC	0.542												
GMEB2	26205	broad.mit.edu	37	20	62234425	62234425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:62234424_62234424TC>T	uc002yfp.1	-	2	730	c.251_251GA>A	c.(250-252)gagfs	p.E84fs	GMEB2_uc002yfo.1_Frame_Shift_Del_p.E6fs|GMEB2_uc002yfq.1_Frame_Shift_Del_p.E84fs	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	84	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TTCCAGGTTCTCCCCCTCTTC	0.483												
RTEL1	51750	broad.mit.edu	37	20	62319690	62319692	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr20:62319689_62319691ATCT>A	uc021wge.1	+	18	1842_1844	c.1672_1674ATCT>A	c.(1672-1674)atc>A	p.I558del	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_In_Frame_Del_p.I558del|RTEL1_uc011abd.2_In_Frame_Del_p.I582del|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_In_Frame_Del_p.I335del|RTEL1_uc002yfx.1_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	558					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGGGCTCCTGATCTTCTTCCCTT	0.635												
C21orf59	56683	broad.mit.edu	37	21	33949091	33949092	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:33949090_33949091A>AC	uc002ypw.4	-	4	757_758	c.641_642T>GT	c.(640-642)ggtfs	p.G214fs		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						ATCTTCAGACACCCCCCCGTCT	0.480												
SUMO3	6612	broad.mit.edu	37	21	46226874	46226875	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr21:46226873_46226874CTG>C	uc002zfz.1	-	3	465_466	c.304_305CAG>G	c.(304-306)agtfs	p.S102fs	SUMO3_uc011afi.1_Frame_Shift_Del_p.S140fs	NM_006936	NP_008867	P55854	SUMO3_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae) (SUMO3), mRNA.	102					protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		CCTCTAGAAACTGTGCCCTGCC	0.609												
MEI1	150365	broad.mit.edu	37	22	42126614	42126614	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chr22:42126613_42126613CT>C	uc003baz.1	+	8	1093	c.1068_1068CT>C	c.(1066-1068)ctcfs	p.L356fs	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Frame_Shift_Del_p.L356fs|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	356							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAGAGCCACTCTTTTTTTCCA	0.507												
GPR82	27197	broad.mit.edu	37	X	41586415	41586416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:41586414_41586415T>TA	uc022bvd.1	+	0	135_136	c.135_136T>TA	c.(133-138)ggtaaafs	p.G45fs	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Frame_Shift_Ins_p.G45fs	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CAAAAATAGGTAAAAAAACATC	0.371												
TAF7L	54457	broad.mit.edu	37	X	100530217	100530218	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MJ-01A-11D-A25D-08	TCGA-CD-A4MJ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9897e6a0-16a6-448b-a494-2ff94291ce74	3cb3d878-cb2a-4022-990a-85beffc44db3	g.chrX:100530216_100530217A>AT	uc004ehb.3	-	11	1363_1364	c.1337_1338T>AT	c.(1336-1338)aatfs	p.N446fs	TAF7L_uc004eha.3_Frame_Shift_Ins_p.N286fs|TAF7L_uc004ehc.2_Frame_Shift_Ins_p.N360fs	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	446					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTACCTTCTCATTTTTTTGTTT	0.337