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
KLHL17	339451	broad.mit.edu	37	1	898826	898826	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:898826G>A	uc001aca.1	+	8	1404	c.1297G>A	c.(1297-1299)GCC>ACC	p.A433T	KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_3'UTR	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	433	Interaction with F-actin (By similarity).|Kelch 2.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGTGTGGCCGCCTTGCATGG	0.637												
GLTPD1	80772	broad.mit.edu	37	1	1262961	1262961	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1262961C>T	uc001aeo.2	+	3	878	c.463C>T	c.(463-465)CGC>TGC	p.R155C	CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	155						cytoplasm	glycolipid binding|glycolipid transporter activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGGTCGTGCGCCGCGCCGT	0.721												
ATAD3B	83858	broad.mit.edu	37	1	1424619	1424619	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1424619C>T	uc001afv.2	+	13	1403	c.1302C>T	c.(1300-1302)AAC>AAT	p.N434N	ATAD3B_uc001afx.2_Silent_p.N388N|ATAD3B_uc001afy.2_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	434							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCACACTGAACGCCTTCCTGT	0.592												
SSU72	29101	broad.mit.edu	37	1	1480327	1480327	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1480327G>A	uc001agd.2	-	3	605	c.280C>T	c.(280-282)CGG>TGG	p.R94W	SSU72_uc009vkg.1_Missense_Mutation_p.R94W	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Ssu72 RNA polymerase II CTD phosphatase homolog	94					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity				0	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTTTCTGGCCGGGGCTTGATT	0.473												
NADK	65220	broad.mit.edu	37	1	1685037	1685037	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:1685037G>A	uc009vkw.2	-	11	1274	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	NADK_uc001aic.2_Missense_Mutation_p.R385W|NADK_uc001aid.3_Missense_Mutation_p.R385W|NADK_uc001aie.2_Missense_Mutation_p.R530W|NADK_uc010nyv.1_Missense_Mutation_p.R353W	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	385					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTCTCTTCCGTCCATCAAAG	0.647												
SKI	6497	broad.mit.edu	37	1	2234746	2234746	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:2234746G>A	uc001aja.3	+	3	1190	c.1118G>A	c.(1117-1119)CGC>CAC	p.R373H		NM_003036	NP_003027	P12755	SKI_HUMAN	v-ski sarcoma viral oncogene homolog	373					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GTTCACCCTCGCCAGCGCCTC	0.612												
CHD5	26038	broad.mit.edu	37	1	6204126	6204126	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:6204126A>G	uc001amb.1	-	12	1992	c.1892T>C	c.(1891-1893)ATC>ACC	p.I631T	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	631	Chromo 2.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTAGTAGGGGATGTCGATGTC	0.602												
TNFRSF25	8718	broad.mit.edu	37	1	6525249	6525249	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:6525249C>T	uc001ane.2	-	3	282	c.194G>A	c.(193-195)TGC>TAC	p.C65Y	TNFRSF25_uc001ana.2_Intron|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_Intron|TNFRSF25_uc009vlz.2_Intron|TNFRSF25_uc001anf.2_Missense_Mutation_p.C65Y|TNFRSF25_uc001ang.2_Intron|TNFRSF25_uc001anh.2_Missense_Mutation_p.C65Y|TNFRSF25_uc001ani.1_Missense_Mutation_p.C65Y	NM_003790	NP_003781	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily,	65	TNFR-Cys 1.|Extracellular (Potential).				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(2)|breast(1)	3	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGTTGCCGCAGGGCTCCGT	0.592												
RERE	473	broad.mit.edu	37	1	8424212	8424212	+	Silent	SNP	G	G	A	rs146907591		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:8424212G>A	uc001ape.2	-	16	2454	c.1644C>T	c.(1642-1644)CCC>CCT	p.P548P	RERE_uc001apf.2_Silent_p.P548P|RERE_uc010nzx.1_Silent_p.P280P|RERE_uc001apd.2_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	548					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGGGTCCACGGGCTTCTCAA	0.582												
UBE4B	10277	broad.mit.edu	37	1	10163014	10163014	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:10163014C>A	uc001aqs.3	+	5	1157	c.444C>A	c.(442-444)TCC>TCA	p.S148S	UBE4B_uc001aqr.3_Silent_p.S148S|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	148					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AGGAGCCTTCCTCGGGCCCTG	0.423												
CASZ1	54897	broad.mit.edu	37	1	10699617	10699617	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:10699617G>A	uc001aro.2	-	21	4982	c.4662C>T	c.(4660-4662)AGC>AGT	p.S1554S		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCAGTCGGCGCTGGAGCTGA	0.657												
TARDBP	23435	broad.mit.edu	37	1	11082567	11082567	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:11082567C>T	uc001art.2	+	6	1235	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	TARDBP_uc010oap.1_Silent_p.F251F	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	367	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		ACCAGGCCTTCGGTTCTGGAA	0.517												
MTOR	2475	broad.mit.edu	37	1	11291032	11291032	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:11291032C>T	uc001asd.2	-	18	2850	c.2729G>A	c.(2728-2730)CGG>CAG	p.R910Q		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	910					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						AGAGGCATCCCGGGACTGGTC	0.522												
KIAA2013	90231	broad.mit.edu	37	1	11983333	11983333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:11983333C>T	uc001atk.2	-	2	1441	c.1247G>A	c.(1246-1248)CGG>CAG	p.R416Q	KIAA2013_uc001atl.1_Missense_Mutation_p.R416Q	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	hypothetical protein LOC90231 precursor	416	Extracellular (Potential).					integral to membrane				ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGACAGCCGCCCCGGCCA	0.647												
PRAMEF2	65122	broad.mit.edu	37	1	12921076	12921076	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:12921076G>A	uc001aum.1	+	4	954	c.867G>A	c.(865-867)AGG>AGA	p.R289R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	289											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCCACAGGTGCCTCCAGA	0.458												
PLEKHM2	23207	broad.mit.edu	37	1	16053856	16053856	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:16053856C>A	uc010obo.1	+	9	1516	c.1289C>A	c.(1288-1290)GCT>GAT	p.A430D		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	430					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGCTCCCGTGCTGAGCCCCCA	0.652												
EPHA2	1969	broad.mit.edu	37	1	16455930	16455930	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:16455930C>T	uc001aya.1	-	16	2961	c.2824G>A	c.(2824-2826)GAC>AAC	p.D942N		NM_004431	NP_004422	P29317	EPHA2_HUMAN	ephrin receptor EphA2 precursor	942	SAM.|Cytoplasmic (Potential).|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGACTTACTCGTTGGTCATC	0.637												
PADI1	29943	broad.mit.edu	37	1	17565179	17565179	+	Silent	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:17565179T>G	uc001bah.1	+	13	1619	c.1527T>G	c.(1525-1527)GGT>GGG	p.G509G	PADI1_uc010oco.1_Silent_p.G66G|PADI1_uc010ocp.1_Silent_p.G66G|PADI1_uc010ocq.1_5'UTR|PADI1_uc009vpb.1_5'Flank	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	peptidylarginine deiminase type I	509					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAGAAGAGGGTTATGGGGAGG	0.612												
ARHGEF10L	55160	broad.mit.edu	37	1	17975138	17975138	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:17975138C>A	uc001ban.2	+	22	2521	c.2362C>A	c.(2362-2364)CCT>ACT	p.P788T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P749T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.P749T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.P744T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.P549T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.P561T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.P491T|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	788					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGCTGCATCCCTGCCTTCTC	0.642												
KLHDC7A	127707	broad.mit.edu	37	1	18809182	18809182	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:18809182G>A	uc001bax.2	+	1	1759	c.1707G>A	c.(1705-1707)TGG>TGA	p.W569*	KLHDC7A_uc009vpg.2_Nonsense_Mutation_p.W351*	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	569	Kelch 3.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGGATCTGGAGCGAGGTGT	0.672												
TAS1R2	80834	broad.mit.edu	37	1	19180947	19180947	+	Silent	SNP	G	G	A	rs142043699		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:19180947G>A	uc001bba.1	-	3	1018	c.1017C>T	c.(1015-1017)CGC>CGT	p.R339R		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	339	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCCCCACTCGCGGAACTCAC	0.652												
UBR4	23352	broad.mit.edu	37	1	19488089	19488089	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:19488089G>A	uc001bbi.2	-	37	5173	c.5169C>T	c.(5167-5169)AGC>AGT	p.S1723S	UBR4_uc001bbm.1_Silent_p.S934S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1723	UBR-type.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCACCAAACAGCTGCCATCTT	0.493												
KIF17	57576	broad.mit.edu	37	1	21031055	21031055	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:21031055C>T	uc001bdr.3	-	5	1126	c.1008G>A	c.(1006-1008)AGG>AGA	p.R336R	KIF17_uc001bds.3_Silent_p.R336R	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	336					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCGGCTTGTTCCTGATGTTCT	0.587												
ECE1	1889	broad.mit.edu	37	1	21582577	21582577	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:21582577C>T	uc001bek.2	-	8	958	c.883G>A	c.(883-885)GGG>AGG	p.G295R	ECE1_uc001bem.2_Missense_Mutation_p.G279R|ECE1_uc001bej.2_Missense_Mutation_p.G283R|ECE1_uc001bei.2_Missense_Mutation_p.G292R|ECE1_uc010odl.1_Missense_Mutation_p.G295R|ECE1_uc009vqa.1_Missense_Mutation_p.G295R	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	295	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCCTCGTCCCCGCCGCCCAGC	0.617												
ECE1	1889	broad.mit.edu	37	1	21585263	21585263	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:21585263C>T	uc001bek.2	-	6	760	c.685G>A	c.(685-687)GCC>ACC	p.A229T	ECE1_uc001bem.2_Missense_Mutation_p.A213T|ECE1_uc001bej.2_Missense_Mutation_p.A217T|ECE1_uc001bei.2_Missense_Mutation_p.A226T|ECE1_uc010odl.1_Missense_Mutation_p.A229T|ECE1_uc009vqa.1_Missense_Mutation_p.A229T	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	229	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTAGTGGGCGGTGACCACC	0.597												
HSPG2	3339	broad.mit.edu	37	1	22166330	22166330	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:22166330G>A	uc001bfj.2	-	72	9734	c.9694C>T	c.(9694-9696)CGC>TGC	p.R3232C	HSPG2_uc009vqd.2_Missense_Mutation_p.R3233C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3232	Ig-like C2-type 18.				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)	GCTGAGCAGCGCAAGGTGGCC	0.617												
HSPG2	3339	broad.mit.edu	37	1	22178284	22178284	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:22178284G>T	uc001bfj.2	-	54	7046	c.7006C>A	c.(7006-7008)CCT>ACT	p.P2336T	HSPG2_uc009vqd.2_Missense_Mutation_p.P2337T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2336	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCCACTCACGGTAGGCTAAG	0.632												
LUZP1	7798	broad.mit.edu	37	1	23418797	23418797	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:23418797C>T	uc001bgk.2	-	4	2342	c.1958G>A	c.(1957-1959)GGC>GAC	p.G653D	LUZP1_uc010odv.1_Missense_Mutation_p.G653D|LUZP1_uc001bgl.2_Missense_Mutation_p.G653D|LUZP1_uc001bgm.1_Missense_Mutation_p.G653D	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	653						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTCTCTGCCACTGGATTT	0.478												
HTR1D	3352	broad.mit.edu	37	1	23519758	23519758	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:23519758C>T	uc001bgn.2	-	1	1465	c.955G>A	c.(955-957)GTG>ATG	p.V319M		NM_000864	NP_000855	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D	319	Helical; Name=6; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity				0		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGAGACACCACGAAGAAGGGC	0.542												
TCEB3	6924	broad.mit.edu	37	1	24080896	24080896	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24080896C>T	uc001bho.2	+	7	1875	c.1815C>T	c.(1813-1815)CCC>CCT	p.P605P		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	elongin A	605	Activation domain (By similarity).|F-box.				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTCTTGAACCCGTTTTGGAGA	0.473												
MYOM3	127294	broad.mit.edu	37	1	24385441	24385441	+	Silent	SNP	C	C	T	rs140240337	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24385441C>T	uc001bin.3	-	36	4186	c.4023G>A	c.(4021-4023)CCG>CCA	p.P1341P	MYOM3_uc001bil.3_Silent_p.P234P|MYOM3_uc001bim.3_Silent_p.P998P	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1341	Ig-like C2-type 4.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCACATCCGGCAGACCTC	0.532												
MYOM3	127294	broad.mit.edu	37	1	24417383	24417383	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24417383G>A	uc001bin.3	-	12	1499	c.1336C>T	c.(1336-1338)CGG>TGG	p.R446W	MYOM3_uc001bim.3_Missense_Mutation_p.R103W|MYOM3_uc001bio.2_Missense_Mutation_p.R446W|MYOM3_uc001bip.1_Missense_Mutation_p.R103W	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	446	Fibronectin type-III 1.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCTCACCCGGAACCGATAG	0.632												
RCC1	1104	broad.mit.edu	37	1	28856393	28856393	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:28856393C>T	uc001bqg.1	+	2	100	c.15C>T	c.(13-15)CGC>CGT	p.R5R	SNHG3-RCC1_uc001bqa.1_Silent_p.R5R|SNHG3-RCC1_uc001bqb.1_Silent_p.R5R|SNHG3-RCC1_uc001bqc.1_Silent_p.R5R|RCC1_uc001bqe.1_Silent_p.R5R|RCC1_uc001bqf.1_Silent_p.R5R	NM_001269	NP_001260	P18754	RCC1_HUMAN	regulator of chromosome condensation 1 isoform	5					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			ovary(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAAGCGCATAGCTAAAA	0.408												
HCRTR1	3061	broad.mit.edu	37	1	32084721	32084721	+	Translation_Start_Site	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:32084721G>T	uc009vtx.2	+	3	313	c.-72G>T	c.(-74--70)GAGGG>GATGG		HCRTR1_uc001btb.2_Intron|HCRTR1_uc001btc.3_Translation_Start_Site|HCRTR1_uc001btd.2_Translation_Start_Site|HCRTR1_uc010ogl.1_Translation_Start_Site	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1						feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AGTGGGCTGAGGGCTGGCCCA	0.557												
BAI2	576	broad.mit.edu	37	1	32222255	32222255	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:32222255G>A	uc001btn.2	-	4	537	c.183C>T	c.(181-183)ATC>ATT	p.I61I	BAI2_uc010ogp.1_Silent_p.I49I|BAI2_uc010ogq.1_Silent_p.I61I|BAI2_uc001bto.2_Silent_p.I61I|BAI2_uc001btq.1_Silent_p.I49I|BAI2_uc010ogr.1_Silent_p.I49I	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	61	Extracellular (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCCCGAGGCGATGGTAGGAA	0.672												
ZNF362	149076	broad.mit.edu	37	1	33747277	33747277	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:33747277C>A	uc001bxc.1	+	6	943	c.773C>A	c.(772-774)CCG>CAG	p.P258Q		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	258	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACAAGTGCCCGCACTGCTCC	0.582												
ZMYM4	9202	broad.mit.edu	37	1	35855667	35855667	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:35855667G>T	uc001byt.2	+	15	2635	c.2555G>T	c.(2554-2556)AGT>ATT	p.S852I	ZMYM4_uc009vuu.2_Missense_Mutation_p.S820I|ZMYM4_uc001byu.2_Missense_Mutation_p.S528I|ZMYM4_uc009vuv.2_Missense_Mutation_p.S591I	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	852					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATCAGCAAAGTGTATGTGAC	0.393												
NCDN	23154	broad.mit.edu	37	1	36026083	36026083	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36026083C>T	uc001bza.2	+	4	458	c.331C>T	c.(331-333)CTG>TTG	p.L111L	KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Silent_p.L111L|NCDN_uc001bzc.2_Silent_p.L94L	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN	neurochondrin isoform 1	111					neuron projection development	cytosol|dendrite|neuronal cell body				large_intestine(2)|pancreas(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTGGCCCTGCTGGCCTGCTT	0.627												
PSMB2	5690	broad.mit.edu	37	1	36107026	36107026	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36107026T>C	uc001bzf.1	-	1	118	c.8A>G	c.(7-9)TAC>TGC	p.Y3C	PSMB2_uc001bzd.1_Missense_Mutation_p.Y3C|PSMB2_uc010ohz.1_Missense_Mutation_p.Y3C|PSMB2_uc001bzg.1_Missense_Mutation_p.Y3C	NM_002794	NP_002785	P49721	PSB2_HUMAN	proteasome beta 2 subunit	3					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	ACCGATGAGGTACTCCATGGT	0.617												
EIF2C3	192669	broad.mit.edu	37	1	36520649	36520649	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36520649C>T	uc001bzp.2	+	18	2633	c.2377C>T	c.(2377-2379)CGC>TGC	p.R793C	EIF2C3_uc001bzq.2_Missense_Mutation_p.R559C	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	793	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACTTACGTACGCTGTACACG	0.438												
MACF1	23499	broad.mit.edu	37	1	39929341	39929341	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:39929341G>A	uc010oiu.1	+	59	17196	c.17065G>A	c.(17065-17067)GGA>AGA	p.G5689R	MACF1_uc010ois.1_Missense_Mutation_p.G5187R|MACF1_uc001cde.1_Missense_Mutation_p.G64R|MACF1_uc001cdf.1_Missense_Mutation_p.G64R	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	7145	C-terminal tail (By similarity).|GAR.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAGCAGATCGGAGAGAATAA	0.443												
PPT1	5538	broad.mit.edu	37	1	40557001	40557001	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:40557001C>T	uc001cfb.2	-	4	665	c.433G>A	c.(433-435)GGT>AGT	p.G145S	PPT1_uc010ojf.1_Missense_Mutation_p.G95S|PPT1_uc010ojg.1_Intron|PPT1_uc009vwa.2_RNA	NM_000310	NP_000301	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1 isoform 1	145					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			ovary(1)	1	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAAAGTTACCTTGATGTTGT	0.433												
HIVEP3	59269	broad.mit.edu	37	1	42041238	42041238	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:42041238C>T	uc001cgz.3	-	5	6397	c.5184G>A	c.(5182-5184)GCG>GCA	p.A1728A	HIVEP3_uc001cha.3_Silent_p.A1728A|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	1728					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTTGATCCTCGCCGGCTCCC	0.567												
TMEM125	128218	broad.mit.edu	37	1	43738510	43738510	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:43738510C>T	uc001cir.2	+	4	687	c.117C>T	c.(115-117)GTC>GTT	p.V39V	EBNA1BP2_uc001cio.2_5'Flank|TMEM125_uc001cis.2_Silent_p.V39V	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	transmembrane protein 125	39	Helical; (Potential).					integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTGCTTCGTCGTGGCCGTGG	0.726												
KIAA0467	23334	broad.mit.edu	37	1	43913908	43913908	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:43913908C>T	uc001cjk.1	+	54	7487	c.7025C>T	c.(7024-7026)GCG>GTG	p.A2342V	KIAA0467_uc001cjl.1_Missense_Mutation_p.A330V	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	3241						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTTATTCTAGCGCCTGGACCG	0.682												
PTPRF	5792	broad.mit.edu	37	1	44063426	44063426	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44063426C>T	uc001cjr.2	+	12	2161	c.1821C>T	c.(1819-1821)TCC>TCT	p.S607S	PTPRF_uc001cjs.2_Silent_p.S607S|PTPRF_uc001cju.2_Silent_p.S178S|PTPRF_uc009vwt.2_Silent_p.S178S|PTPRF_uc001cjv.2_Intron|PTPRF_uc001cjw.2_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	607	Extracellular (Potential).|Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGCCCCCTCCGCCCCTCCCC	0.642												
KDM4A	9682	broad.mit.edu	37	1	44157236	44157236	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44157236T>C	uc001cjx.2	+	15	2478	c.2312T>C	c.(2311-2313)CTA>CCA	p.L771P	KDM4A_uc010oki.1_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	771					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						GCCAATGCCCTAGAGGAGGTG	0.498												
IPO13	9670	broad.mit.edu	37	1	44424484	44424484	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44424484C>T	uc001ckx.2	+	11	2746	c.1951C>T	c.(1951-1953)CTG>TTG	p.L651L		NM_014652	NP_055467	O94829	IPO13_HUMAN	importin 13	651	HEAT 11.				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTTCACCACACTGGACATCAG	0.562												
CCDC24	149473	broad.mit.edu	37	1	44457978	44457978	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:44457978C>T	uc001clj.2	+	3	392	c.221C>T	c.(220-222)CCG>CTG	p.P74L	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.P30L|CCDC24_uc009vxc.2_Intron	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	74											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGGCACCACCGCCTCTCCTA	0.637												
RPS8	6202	broad.mit.edu	37	1	45243749	45243749	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:45243749T>C	uc001cmi.2	+	5	488	c.465T>C	c.(463-465)AAT>AAC	p.N155N	SNORD38B_uc001cml.2_5'Flank	NM_001012	NP_001003	P62241	RS8_HUMAN	ribosomal protein S8	155					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGAAAAAGAATGCCAAAATCA	0.413												
RAD54L	8438	broad.mit.edu	37	1	46743801	46743801	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:46743801T>C	uc009vye.2	+	19	2205	c.2091T>C	c.(2089-2091)TCT>TCC	p.S697S	RAD54L_uc001cpl.2_Silent_p.S697S|RAD54L_uc001cpm.1_Silent_p.S480S	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	697					meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTGATGGTTCTGACTGCACTT	0.592								Direct_reversal_of_damage|Homologous_recombination				
LRRC41	10489	broad.mit.edu	37	1	46751402	46751402	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:46751402C>T	uc001cpn.2	-	4	1171	c.1127G>A	c.(1126-1128)CGG>CAG	p.R376Q	LRRC41_uc010omb.1_Missense_Mutation_p.R376Q|LRRC41_uc001cpo.1_Missense_Mutation_p.R376Q	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	376										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGCTGGTGCCCGTTTGTATGA	0.622												
DMRTA2	63950	broad.mit.edu	37	1	50884409	50884409	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:50884409C>T	uc010ona.1	-	2	1653	c.1557G>A	c.(1555-1557)GCG>GCA	p.A519A	DMRTA2_uc010onb.1_Silent_p.A519A	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	519	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0						CCTTGTGCACCGCCGCAGCAG	0.706												
ZCCHC11	23318	broad.mit.edu	37	1	52891130	52891130	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:52891130C>T	uc001ctx.2	-	29	4992	c.4758G>A	c.(4756-4758)CCG>CCA	p.P1586P	ZCCHC11_uc001cty.2_Silent_p.P1587P|ZCCHC11_uc001ctz.2_Silent_p.P1582P	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1586	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						AATGGGGACGCGGTGCATGTT	0.468												
GLIS1	148979	broad.mit.edu	37	1	53990523	53990523	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:53990523C>T	uc001cvr.1	-	5	1562	c.995G>A	c.(994-996)CGC>CAC	p.R332H		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	332	C2H2-type 5.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			skin(1)	1						GTCTGTGTAGCGCTTGGAGCA	0.637												
DHCR24	1718	broad.mit.edu	37	1	55319710	55319710	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55319710G>A	uc001cyc.1	-	7	1347	c.1218C>T	c.(1216-1218)CAC>CAT	p.H406H	DHCR24_uc010ooi.1_Silent_p.H49H|DHCR24_uc010ooj.1_Silent_p.H220H|DHCR24_uc010ook.1_Silent_p.H365H	NM_014762	NP_055577	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase precursor	406					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			pancreas(1)	1						CCCCACTCACGTGGATGTCGT	0.562												
USP24	23358	broad.mit.edu	37	1	55562769	55562769	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55562769T>C	uc001cyg.3	-	46	5312	c.5312A>G	c.(5311-5313)GAA>GGA	p.E1771G		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1931					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TCGCCCATTTTCCCCAACTTC	0.478												
USP24	23358	broad.mit.edu	37	1	55613380	55613380	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55613380G>A	uc001cyg.3	-	15	1580	c.1580C>T	c.(1579-1581)GCC>GTC	p.A527V		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	687					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13						TCCAGGCCCGGCCACAGCAGC	0.463												
PDE4B	5142	broad.mit.edu	37	1	66829177	66829177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:66829177G>A	uc001dcn.2	+	12	1398	c.1207G>A	c.(1207-1209)GTG>ATG	p.V403M	PDE4B_uc009war.2_Missense_Mutation_p.V311M|PDE4B_uc001dco.2_Missense_Mutation_p.V403M|PDE4B_uc001dcp.2_Missense_Mutation_p.V388M|PDE4B_uc001dcq.2_Missense_Mutation_p.V231M|PDE4B_uc009was.2_Missense_Mutation_p.V170M	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	403					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CCATTCTGACGTGGCATATCA	0.423												
IL23R	149233	broad.mit.edu	37	1	67724741	67724741	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:67724741C>A	uc001ddo.2	+	11	1905	c.1820C>A	c.(1819-1821)TCT>TAT	p.S607Y	IL23R_uc009waz.2_Missense_Mutation_p.S404Y|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.S205Y|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.S189Y|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.S353Y|IL23R_uc010opn.1_Missense_Mutation_p.S452Y|IL23R_uc001ddr.2_RNA|IL23R_uc010ops.1_Missense_Mutation_p.S404Y|IL23R_uc010opt.1_Missense_Mutation_p.S248Y|IL23R_uc010opu.1_Missense_Mutation_p.S303Y|IL23R_uc010opv.1_Missense_Mutation_p.S365Y|IL23R_uc010opw.1_Missense_Mutation_p.S242Y|IL23R_uc010opx.1_Missense_Mutation_p.S248Y|IL23R_uc010opy.1_Missense_Mutation_p.S374Y|IL23R_uc010opz.1_Missense_Mutation_p.S248Y|IL23R_uc010oqa.1_Missense_Mutation_p.S248Y|IL23R_uc010oqb.1_Missense_Mutation_p.S436Y|IL23R_uc010oqc.1_Missense_Mutation_p.S323Y|IL23R_uc010oqd.1_Missense_Mutation_p.S242Y|IL23R_uc010oqe.1_Missense_Mutation_p.S205Y|IL23R_uc010oqf.1_Missense_Mutation_p.S205Y|IL23R_uc010oqg.1_Missense_Mutation_p.S205Y|IL23R_uc010oqh.1_Missense_Mutation_p.S248Y|IL23R_uc001dds.2_Missense_Mutation_p.S352Y|IL23R_uc001ddt.2_Missense_Mutation_p.S205Y	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor precursor	607	Cytoplasmic (Potential).				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity				0						GAGTTGCCATCTATTAATACT	0.378												
LRRC7	57554	broad.mit.edu	37	1	70501850	70501850	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	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	0.393												
LRRC7	57554	broad.mit.edu	37	1	70505412	70505412	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:70505412G>T	uc001dep.2	+	19	3821	c.3791G>T	c.(3790-3792)GGT>GTT	p.G1264V	LRRC7_uc009wbg.2_Missense_Mutation_p.G548V|LRRC7_uc001deq.2_Missense_Mutation_p.G505V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1264						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GAGAGCTGTGGTAAAATGCCT	0.448												
AK5	26289	broad.mit.edu	37	1	77759520	77759520	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:77759520G>A	uc001dhn.2	+	3	547	c.290G>A	c.(289-291)CGG>CAG	p.R97Q	AK5_uc001dho.2_Missense_Mutation_p.R71Q|AK5_uc001dhm.1_Intron	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	97					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						CGGTATGACCGGCTCCCTCCA	0.408												
USP33	23032	broad.mit.edu	37	1	78163101	78163101	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:78163101A>G	uc001dht.2	-	25	3077	c.2730T>C	c.(2728-2730)GGT>GGC	p.G910G	USP33_uc009wca.1_RNA|USP33_uc001dhs.2_3'UTR|USP33_uc001dhu.2_Silent_p.G879G	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	910	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						CAGGCCCTCCACCATAAATAG	0.368												
FUBP1	8880	broad.mit.edu	37	1	78430612	78430612	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:78430612C>T	uc001dii.2	-	9	767	c.678G>A	c.(676-678)CCG>CCA	p.P226P	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Silent_p.P247P	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	226	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						CAGTGTTCTGCGGCCCGTCTT	0.358												
WDR63	126820	broad.mit.edu	37	1	85550270	85550270	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:85550270T>C	uc001dkt.2	+	6	623	c.432T>C	c.(430-432)CAT>CAC	p.H144H	WDR63_uc009wcl.2_Silent_p.H144H	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	144										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATAAAGAACATATTCCTGAAG	0.338												
CYR61	3491	broad.mit.edu	37	1	86048117	86048117	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:86048117G>A	uc001dle.2	+	4	877	c.653G>A	c.(652-654)CGC>CAC	p.R218H	CYR61_uc001dlg.2_Missense_Mutation_p.R47H|CYR61_uc009wcp.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61 precursor	218					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)	1				all cancers(265;0.0216)|Epithelial(280;0.0441)		ATGGAGCCTCGCATCCTATAC	0.433											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
F3	2152	broad.mit.edu	37	1	94998030	94998030	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:94998030C>T	uc001dqr.2	-	5	777	c.598G>A	c.(598-600)GCC>ACC	p.A200T	F3_uc001dqp.2_RNA|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron	NM_001993	NP_001984	P13726	TF_HUMAN	coagulation factor III precursor	200	Extracellular (Potential).				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			central_nervous_system(1)	1		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	TTTGTTTTGGCTGTTTTCTGT	0.373												
LPPR5	163404	broad.mit.edu	37	1	99418625	99418625	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:99418625C>T	uc001dsb.2	-	3	843	c.621_splice	c.e3+1	p.T207_splice	LPPR5_uc001dsc.2_Splice_Site_p.T207_splice	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1							integral to membrane	hydrolase activity				0						TCCTTACTTACGGTCAGATAC	0.378												
CCDC76	54482	broad.mit.edu	37	1	100606543	100606543	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:100606543A>G	uc001dsv.2	+	7	656	c.637A>G	c.(637-639)ATC>GTC	p.I213V	CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.I213V	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	coiled-coil domain containing 76	213					tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		AGTTCACTTCATCCTAGTGGA	0.368												
COL11A1	1301	broad.mit.edu	37	1	103444434	103444434	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:103444434A>G	uc001dul.2	-	34	3009	c.2691T>C	c.(2689-2691)ACT>ACC	p.T897T	COL11A1_uc001duk.2_Silent_p.T93T|COL11A1_uc001dum.2_Silent_p.T909T|COL11A1_uc001dun.2_Silent_p.T858T|COL11A1_uc009weh.2_Silent_p.T781T	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	897	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGTTTCCCAGTGGGACCTC	0.418												
COL11A1	1301	broad.mit.edu	37	1	103471836	103471836	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:103471836C>T	uc001dul.2	-	16	2037	c.1719G>A	c.(1717-1719)ACG>ACA	p.T573T	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.T585T|COL11A1_uc001dun.2_Silent_p.T534T|COL11A1_uc009weh.2_Silent_p.T457T	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	573	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGTTTTCCCGTTGGACCAG	0.348												
NTNG1	22854	broad.mit.edu	37	1	107691418	107691418	+	Missense_Mutation	SNP	C	C	T	rs142686945		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:107691418C>T	uc001dvh.3	+	2	921	c.203C>T	c.(202-204)CCG>CTG	p.P68L	NTNG1_uc001dvf.3_Missense_Mutation_p.P68L|NTNG1_uc010out.1_Missense_Mutation_p.P68L|NTNG1_uc001dvc.3_Missense_Mutation_p.P68L|NTNG1_uc001dvd.1_Missense_Mutation_p.P68L	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	netrin G1 isoform 1	68	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			large_intestine(2)|ovary(2)|skin(2)	6		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTCGATCCTCCGGATATTACC	0.438												
SLC25A24	29957	broad.mit.edu	37	1	108690905	108690905	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:108690905A>G	uc001dvn.3	-	7	1140	c.926T>C	c.(925-927)ATG>ACG	p.M309T	SLC25A24_uc001dvm.2_Missense_Mutation_p.M290T	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	309	Solcar 2.|Helical; Name=3; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ACTCACCTCCATTGGATATAT	0.279												
C1orf59	113802	broad.mit.edu	37	1	109191326	109191326	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:109191326C>T	uc001dvt.3	-	8	1282	c.1044G>A	c.(1042-1044)GCG>GCA	p.A348A	C1orf59_uc001dvu.3_Silent_p.A348A|C1orf59_uc009wer.2_3'UTR	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN	hypothetical protein LOC113802	348					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity				0		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)		ACTTGGGATACGCAAGGAGTC	0.473												
WDR47	22911	broad.mit.edu	37	1	109560159	109560159	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:109560159C>T	uc001dwj.2	-	3	599	c.223G>A	c.(223-225)GAA>AAA	p.E75K	WDR47_uc001dwl.2_Missense_Mutation_p.E75K|WDR47_uc001dwi.2_Missense_Mutation_p.E75K|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.1_Missense_Mutation_p.E2K	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	75	CTLH.									ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCAAATTTTTCCATACATTCT	0.299												
KCND3	3752	broad.mit.edu	37	1	112524251	112524251	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:112524251G>T	uc001ebu.1	-	2	1578	c.1098C>A	c.(1096-1098)ACC>ACA	p.T366T	KCND3_uc001ebv.1_Silent_p.T366T	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	366						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ACCCCAGTGTGGTCATGGTGA	0.542												
MOV10	4343	broad.mit.edu	37	1	113238801	113238801	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:113238801A>G	uc001eck.2	+	12	2081	c.1811A>G	c.(1810-1812)GAG>GGG	p.E604G	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Missense_Mutation_p.E604G|MOV10_uc001ecm.2_Missense_Mutation_p.E544G|MOV10_uc009wgj.1_Missense_Mutation_p.E544G	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	604					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AAGAAGGGGGAGTATGTATTT	0.557												
CASQ2	845	broad.mit.edu	37	1	116243928	116243928	+	Missense_Mutation	SNP	A	A	T	rs77062555		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:116243928A>T	uc001efx.3	-	11	1398	c.1134T>A	c.(1132-1134)GAT>GAA	p.D378E	CASQ2_uc010owu.1_Missense_Mutation_p.D307E	NM_001232	NP_001223	O14958	CASQ2_HUMAN	cardiac calsequestrin 2 precursor	378	Asp/Glu-rich (acidic).				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			skin(1)	1	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		catcatcatcatcttcatcat	0.254												
PDE4DIP	9659	broad.mit.edu	37	1	145075752	145075752	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:145075752C>T	uc001emh.2	-	1	328	c.111G>A	c.(109-111)ACG>ACA	p.T37T	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Silent_p.T37T|PDE4DIP_uc001emk.2_Silent_p.T37T	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGGGTTCGCGTCGCGTCCC	0.726			T	PDGFRB	MPD							
ANKRD34A	284615	broad.mit.edu	37	1	145473629	145473629	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:145473629G>A	uc001enq.1	+	4	1594	c.301G>A	c.(301-303)GGC>AGC	p.G101S	NBPF10_uc001emp.3_Intron	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	101	ANK 3.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTTGCCCACGGCGCAGACCC	0.726												
PRKAB2	5565	broad.mit.edu	37	1	146639440	146639440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:146639440G>A	uc001epe.2	-	3	374	c.229C>T	c.(229-231)CGG>TGG	p.R77W	PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.R77W	NM_005399	NP_005390	O43741	AAKB2_HUMAN	AMP-activated protein kinase beta 2	77					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				lung(2)|skin(1)	3	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	ACAGTGGGCCGGGCCTGCTGT	0.522												
GJA8	2703	broad.mit.edu	37	1	147380280	147380280	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:147380280C>T	uc001epu.1	+	2	261	c.198C>T	c.(196-198)TAC>TAT	p.Y66Y		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	66	Extracellular (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					ACGTCTGCTACGACGAGGCCT	0.617												
RPRD2	23248	broad.mit.edu	37	1	150444621	150444621	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:150444621G>A	uc009wlr.2	+	11	3398	c.3197G>A	c.(3196-3198)CGC>CAC	p.R1066H	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1040H	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	1066							protein binding			ovary(1)	1						ATAGAAACCCGCGTCTCCTCC	0.522												
SETDB1	9869	broad.mit.edu	37	1	150923182	150923182	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:150923182G>A	uc001evu.2	+	13	2019	c.1829G>A	c.(1828-1830)CGG>CAG	p.R610Q	SETDB1_uc009wmf.2_Missense_Mutation_p.R611Q|SETDB1_uc001evv.2_Missense_Mutation_p.R610Q|SETDB1_uc009wmg.1_Missense_Mutation_p.R610Q	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	610	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GACTTCCGGCGGATGACAGCC	0.527												
TNFAIP8L2	79626	broad.mit.edu	37	1	151131319	151131319	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151131319A>G	uc001ewx.2	+	2	272	c.146A>G	c.(145-147)TAC>TGC	p.Y49C		NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein	49					innate immune response						0	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCAAGGAGTACACGCACAGC	0.572												
ZNF687	57592	broad.mit.edu	37	1	151262662	151262662	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151262662G>A	uc001exq.2	+	7	3127	c.3029G>A	c.(3028-3030)CGC>CAC	p.R1010H	ZNF687_uc009wmo.2_Missense_Mutation_p.R1010H|ZNF687_uc009wmp.2_Missense_Mutation_p.R1010H	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1010	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCTGAGGCGCCATGTCAGA	0.592												
ZNF687	57592	broad.mit.edu	37	1	151263646	151263646	+	Silent	SNP	G	G	A	rs137887486		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151263646G>A	uc001exq.2	+	9	3773	c.3675G>A	c.(3673-3675)GCG>GCA	p.A1225A	ZNF687_uc009wmo.2_Silent_p.A1225A|ZNF687_uc009wmp.2_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGCATGGCGTTCATCAGGG	0.612												
PSMB4	5692	broad.mit.edu	37	1	151372478	151372478	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151372478C>A	uc001eyc.1	+	2	185	c.162C>A	c.(160-162)ACC>ACA	p.T54T	PSMB4_uc010pda.1_Silent_p.T54T|PSMB4_uc001eyb.1_Silent_p.T54T	NM_002796	NP_002787	P28070	PSB4_HUMAN	proteasome beta 4 subunit	54					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGACCGGGACCTCAGTCCTCG	0.592												
CGN	57530	broad.mit.edu	37	1	151509788	151509788	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151509788T>G	uc009wmw.2	+	21	3722	c.3578T>G	c.(3577-3579)CTT>CGT	p.L1193R	TUFT1_uc001eyl.2_5'Flank|TUFT1_uc001eym.2_5'Flank|TUFT1_uc010pdf.1_5'Flank|TUFT1_uc010pdg.1_5'Flank|CGN_uc010pde.1_Missense_Mutation_p.L187R	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	1187	Tail.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATCACTGCTTACGGAGAGC	0.552												
CELF3	11189	broad.mit.edu	37	1	151682225	151682225	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:151682225G>A	uc001eys.1	-	3	1065	c.271C>T	c.(271-273)CGA>TGA	p.R91*	CELF3_uc010pdh.1_5'Flank|CELF3_uc001eyr.2_Nonsense_Mutation_p.R91*|CELF3_uc009wmy.2_Nonsense_Mutation_p.R91*|CELF3_uc009wmx.1_Nonsense_Mutation_p.R91*|CELF3_uc001eyt.2_Nonsense_Mutation_p.R15*|CELF3_uc010pdi.1_Nonsense_Mutation_p.R91*|C1orf230_uc001eyu.2_5'Flank	NM_007185	NP_009116	Q5SZQ8	CELF3_HUMAN	trinucleotide repeat containing 4	91					nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			ovary(1)|central_nervous_system(1)	2						CTACCTCCTCGGCTCTCGCTG	0.607												
TCHH	7062	broad.mit.edu	37	1	152084711	152084711	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:152084711G>A	uc001ezp.2	-	2	982	c.982C>T	c.(982-984)CGC>TGC	p.R328C	TCHH_uc009wne.1_Missense_Mutation_p.R328C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	328	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.|1-2; approximate.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctgc	0												
FLG2	388698	broad.mit.edu	37	1	152329055	152329055	+	Missense_Mutation	SNP	G	G	A	rs145274102		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:152329055G>A	uc001ezw.3	-	3	1280	c.1207C>T	c.(1207-1209)CGC>TGC	p.R403C	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	403	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGAAAAGCGGCCACAGGAA	0.428												
S100A13	6284	broad.mit.edu	37	1	153598863	153598863	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:153598863C>T	uc001fcf.3	-	2	245	c.86G>A	c.(85-87)CGG>CAG	p.R29Q	S100A13_uc001fcg.2_Missense_Mutation_p.R29Q|S100A13_uc009woh.2_Missense_Mutation_p.R29Q|S100A13_uc001fch.2_Missense_Mutation_p.R29Q|S100A13_uc001fci.2_Missense_Mutation_p.R29Q|S100A13_uc001fcj.2_Missense_Mutation_p.R29Q|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_001019384	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	29	1.|EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCTATCCTTCCGGCCCTCCTG	0.552												
DENND4B	9909	broad.mit.edu	37	1	153914704	153914704	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:153914704C>T	uc001fdd.1	-	5	1170	c.769G>A	c.(769-771)GTC>ATC	p.V257I		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	257	UDENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTGGAGAAGACGGGCACGGGG	0.632												
UBAP2L	9898	broad.mit.edu	37	1	154223782	154223782	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154223782C>A	uc001fep.3	+	13	1646	c.1479C>A	c.(1477-1479)TCC>TCA	p.S493S	UBAP2L_uc009wot.2_Silent_p.S493S|UBAP2L_uc010pek.1_Silent_p.S485S|UBAP2L_uc010pel.1_Silent_p.S503S|UBAP2L_uc010pen.1_Silent_p.S407S	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	493					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAAAGCCTCCTTGACTTCTA	0.448												
ADAR	103	broad.mit.edu	37	1	154557515	154557515	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154557515G>A	uc001ffh.2	-	15	3648	c.3448C>T	c.(3448-3450)CGG>TGG	p.R1150W	ADAR_uc001ffj.2_Missense_Mutation_p.R1105W|ADAR_uc001ffi.2_Missense_Mutation_p.R1124W|ADAR_uc001ffk.2_Missense_Mutation_p.R855W	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	1150	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AATTCATTCCGTGGCCTAGAG	0.498												
SHC1	6464	broad.mit.edu	37	1	154942742	154942742	+	Silent	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154942742T>G	uc001ffv.2	-	1	482	c.261A>C	c.(259-261)GCA>GCC	p.A87A	SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Silent_p.A87A|SHC1_uc001ffx.2_Intron|SHC1_uc001ffy.2_Intron	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	87					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CATCATCAGCTGCCCTTCCTG	0.672												
CLK2	1196	broad.mit.edu	37	1	155240683	155240683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:155240683C>T	uc001fjy.2	-	2	376	c.86G>A	c.(85-87)CGA>CAA	p.R29Q	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.R29Q|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.R29Q	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	29						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTTCTTCGTCGCTTATGCTT	0.592								Other_conserved_DNA_damage_response_genes				
ARHGEF2	9181	broad.mit.edu	37	1	155924705	155924705	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:155924705G>A	uc001fmt.2	-	14	1889	c.1771C>T	c.(1771-1773)CGG>TGG	p.R591W	ARHGEF2_uc001fmr.2_Missense_Mutation_p.R563W|ARHGEF2_uc001fms.2_Missense_Mutation_p.R590W|ARHGEF2_uc001fmu.2_Missense_Mutation_p.R635W	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor 2	591	Potential.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			ovary(1)	1	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTAATTCGCCGCAGGTAAGCC	0.313												
IQGAP3	128239	broad.mit.edu	37	1	156510583	156510583	+	Nonsense_Mutation	SNP	G	G	A	rs138977257	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156510583G>A	uc001fpf.2	-	23	2731	c.2656C>T	c.(2656-2658)CGA>TGA	p.R886*		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	886					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGATTGGATCGGATCTTCCTA	0.527												
BCAN	63827	broad.mit.edu	37	1	156617400	156617400	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156617400G>A	uc001fpp.2	+	4	903	c.567G>A	c.(565-567)CCG>CCA	p.P189P	BCAN_uc001fpo.2_Silent_p.P189P	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	189	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGCCACCCCGGAGCAGCTCT	0.632												
C1orf66	51093	broad.mit.edu	37	1	156702120	156702120	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156702120C>T	uc001fpu.2	+	3	918	c.284C>T	c.(283-285)GCG>GTG	p.A95V	C1orf66_uc001fpv.2_Missense_Mutation_p.A95V	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	hypothetical protein LOC51093 isoform 1	95						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGTCCACGGCGTGTGCCCTG	0.592												
INSRR	3645	broad.mit.edu	37	1	156821779	156821779	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156821779G>A	uc010pht.1	-	3	1096	c.842C>T	c.(841-843)GCC>GTC	p.A281V	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.A281V	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	281					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCAGGCTGGCACAGCGCTC	0.657												
INSRR	3645	broad.mit.edu	37	1	156823914	156823914	+	Silent	SNP	G	G	A	rs62640942	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156823914G>A	uc010pht.1	-	2	521	c.267C>T	c.(265-267)TAC>TAT	p.Y89Y	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Silent_p.Y89Y	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	89					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTCCAGTCCGTAGACACGGA	0.617												
NTRK1	4914	broad.mit.edu	37	1	156843506	156843506	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156843506C>T	uc001fqh.1	+	8	988	c.932C>T	c.(931-933)CCG>CTG	p.P311L	NTRK1_uc001fqf.1_Missense_Mutation_p.P281L|NTRK1_uc009wsi.1_Missense_Mutation_p.P16L|NTRK1_uc001fqi.1_Missense_Mutation_p.P311L|NTRK1_uc009wsk.1_Missense_Mutation_p.P311L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	311	Ig-like C2-type 2.|Extracellular (Potential).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAGCCGGCACCGTCTCTGCGC	0.627			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)		
ARHGEF11	9826	broad.mit.edu	37	1	156918229	156918229	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156918229G>A	uc001fqo.2	-	22	2907	c.1867C>T	c.(1867-1869)CGG>TGG	p.R623W	ARHGEF11_uc010phu.1_Missense_Mutation_p.R39W|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R663W|ARHGEF11_uc001fqp.1_Missense_Mutation_p.R142W	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	623					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTCGAGACCGTTTCATCTCT	0.587												
SPTA1	6708	broad.mit.edu	37	1	158622409	158622409	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:158622409T>C	uc001fst.1	-	23	3422	c.3223A>G	c.(3223-3225)AGA>GGA	p.R1075G		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1075					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					AGACGACGTCTGCGTTCTTCT	0.438												
MNDA	4332	broad.mit.edu	37	1	158815592	158815592	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:158815592G>T	uc001fsz.1	+	5	986	c.786G>T	c.(784-786)AGG>AGT	p.R262S		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	262	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)					AATTTGTAAGGAAGAAGGTCA	0.353												
FCRL6	343413	broad.mit.edu	37	1	159779226	159779226	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:159779226C>T	uc001fud.3	+	5	681	c.639C>T	c.(637-639)CAC>CAT	p.H213H	FCRL6_uc001fuc.2_Silent_p.H220H|FCRL6_uc009wsz.1_Silent_p.H118H|FCRL6_uc009wta.2_Silent_p.H213H	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6 precursor	213	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	all_hematologic(112;0.0597)					CTCTGCACCACGGGCCTGCTG	0.627												
SLAMF8	56833	broad.mit.edu	37	1	159799767	159799767	+	Missense_Mutation	SNP	G	G	A	rs140969397		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:159799767G>A	uc001fue.3	+	2	362	c.152G>A	c.(151-153)CGA>CAA	p.R51Q		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	SLAM family member 8 precursor	51	Extracellular (Potential).					integral to membrane					0	all_hematologic(112;0.0597)					GCTATCTGGCGATCTCTCTGG	0.612												
IGSF8	93185	broad.mit.edu	37	1	160064775	160064775	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:160064775G>A	uc001fva.2	-	2	371	c.326C>T	c.(325-327)GCC>GTC	p.A109V	IGSF8_uc001fuz.2_Missense_Mutation_p.A109V|IGSF8_uc009wtf.2_Missense_Mutation_p.A109V	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	109	Ig-like C2-type 1.|Extracellular (Potential).				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding				0	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAGCACCACGGCATCACCTTG	0.607												
NCSTN	23385	broad.mit.edu	37	1	160325683	160325683	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:160325683C>T	uc001fvx.2	+	13	1610	c.1486C>T	c.(1486-1488)CGT>TGT	p.R496C	NCSTN_uc001fvy.2_Missense_Mutation_p.R476C|NCSTN_uc010pjf.1_Missense_Mutation_p.R358C|NCSTN_uc001fvz.2_Missense_Mutation_p.R276C|NCSTN_uc010pjg.1_Missense_Mutation_p.R238C	NM_015331	NP_056146	Q92542	NICA_HUMAN	nicastrin precursor	496	Extracellular (Potential).				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			ovary(1)|lung(1)	2	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGCTGGGACGTGCTCTGTA	0.552												
CD84	8832	broad.mit.edu	37	1	160535331	160535331	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:160535331C>T	uc001fwh.3	-	2	275	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	CD84_uc001fwf.3_Missense_Mutation_p.R84Q|CD84_uc001fwg.3_Missense_Mutation_p.R84Q|CD84_uc009wtn.2_Missense_Mutation_p.R84Q|CD84_uc001fwi.3_Intron|CD84_uc001fwj.2_Missense_Mutation_p.R84Q|CD84_uc001fwk.2_Missense_Mutation_p.R84Q	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	84	Extracellular (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.R84W(1)		ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGCATGTATCCGTTCATAATA	0.438												
USF1	7391	broad.mit.edu	37	1	161010422	161010422	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:161010422C>T	uc001fxi.2	-	9	853	c.658G>A	c.(658-660)GTG>ATG	p.V220M	F11R_uc010pjw.1_5'Flank|F11R_uc001fxf.3_5'Flank|TSTD1_uc010pjx.1_5'Flank|TSTD1_uc009wtw.2_5'Flank|TSTD1_uc001fxh.3_5'Flank|USF1_uc001fxj.2_Missense_Mutation_p.V161M	NM_007122	NP_009053	P22415	USF1_HUMAN	upstream stimulatory factor 1 isoform 1	220	Helix-loop-helix motif.				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GAGAGCTGCACGATCCAGTTG	0.547												
FCGR2A	2212	broad.mit.edu	37	1	161479826	161479826	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:161479826C>T	uc001gan.2	+	4	634	c.581C>T	c.(580-582)ACG>ATG	p.T194M	FCGR2A_uc001gam.2_Missense_Mutation_p.T193M|FCGR2A_uc001gao.2_RNA	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor	194	Extracellular (Potential).|Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATAGGCTACACGCTGTTCTCA	0.517												
DDR2	4921	broad.mit.edu	37	1	162745616	162745616	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:162745616C>T	uc001gcf.2	+	16	2496	c.2031C>T	c.(2029-2031)AGC>AGT	p.S677S	DDR2_uc001gcg.2_Silent_p.S677S	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	677	Cytoplasmic (Potential).|Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTTCCTCCAGCGATGTACGCA	0.483												
LMX1A	4009	broad.mit.edu	37	1	165179968	165179968	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:165179968C>T	uc001gcy.1	-	5	936	c.715G>A	c.(715-717)GTC>ATC	p.V239I	LMX1A_uc001gcz.1_Missense_Mutation_p.V239I|LMX1A_uc001gcw.1_5'UTR|LMX1A_uc001gcx.1_5'UTR	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	239	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V239I(1)		central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CACACCTGGACGACACGGACA	0.478												
POGK	57645	broad.mit.edu	37	1	166815887	166815887	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:166815887C>T	uc001gdt.1	+	3	291	c.171C>T	c.(169-171)TCC>TCT	p.S57S	POGK_uc010ple.1_Intron|POGK_uc010plf.1_Intron	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	57	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						TATATTTTTCCGATGAGGAAT	0.473												
ADCY10	55811	broad.mit.edu	37	1	167830192	167830192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:167830192G>A	uc001ger.2	-	15	2024	c.1726C>T	c.(1726-1728)CGA>TGA	p.R576*	ADCY10_uc009wvk.2_Nonsense_Mutation_p.R484*|ADCY10_uc010plj.1_Nonsense_Mutation_p.R423*|ADCY10_uc009wvl.2_Nonsense_Mutation_p.R575*	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	576					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3						TTGGTCTGTCGTTCTTTATAA	0.363												
TNN	63923	broad.mit.edu	37	1	175092540	175092540	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:175092540T>C	uc001gkl.1	+	12	2768	c.2655T>C	c.(2653-2655)ATT>ATC	p.I885I		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	885	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AAAAAGAAATTGACGGCCCCA	0.463												
TNR	7143	broad.mit.edu	37	1	175375480	175375480	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:175375480G>A	uc001gkp.1	-	1	452	c.371C>T	c.(370-372)GCC>GTC	p.A124V	TNR_uc009wwu.1_Missense_Mutation_p.A124V|TNR_uc010pmz.1_Missense_Mutation_p.A124V	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	124					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					ACATGGACAGGCCTTTTTGGG	0.592												
ASTN1	460	broad.mit.edu	37	1	176999987	176999987	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:176999987G>T	uc001glc.2	-	4	1179	c.967C>A	c.(967-969)CAC>AAC	p.H323N	ASTN1_uc001glb.1_Missense_Mutation_p.H323N|ASTN1_uc001gld.1_Missense_Mutation_p.H323N|ASTN1_uc009wwx.1_Missense_Mutation_p.H323N|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	323					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						CTGGAGGTGTGAGAGAGAAGG	0.478												
FAM5B	57795	broad.mit.edu	37	1	177199214	177199214	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177199214G>A	uc001glf.2	+	2	514	c.202G>A	c.(202-204)GCT>ACT	p.A68T		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	68						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CTTCCACCGCGCTCAGGAGTA	0.637												
FAM5B	57795	broad.mit.edu	37	1	177250252	177250252	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177250252G>A	uc001glf.2	+	8	2252	c.1940G>A	c.(1939-1941)CGG>CAG	p.R647Q	FAM5B_uc001glg.2_Missense_Mutation_p.R542Q	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	647						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						GTTTACCTACGGAGCCGAATC	0.463												
SEC16B	89866	broad.mit.edu	37	1	177901700	177901700	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177901700C>A	uc001gli.1	-	24	3027	c.2937G>T	c.(2935-2937)GGG>GGT	p.G979G	SEC16B_uc001glk.1_Silent_p.G656G|SEC16B_uc009wwy.1_Missense_Mutation_p.G498V|SEC16B_uc001glh.1_Silent_p.G639G|SEC16B_uc009wwz.1_Silent_p.G638G|SEC16B_uc001glj.1_Silent_p.G980G	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	979					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						GGCCTTCACCCCCACCTGGAA	0.662												
SEC16B	89866	broad.mit.edu	37	1	177909758	177909758	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:177909758C>T	uc001gli.1	-	17	2204	c.2114G>A	c.(2113-2115)CGG>CAG	p.R705Q	SEC16B_uc001glk.1_Missense_Mutation_p.R382Q|SEC16B_uc009wwy.1_Missense_Mutation_p.R260Q|SEC16B_uc001glh.1_Missense_Mutation_p.R364Q|SEC16B_uc009wwz.1_Missense_Mutation_p.R364Q|SEC16B_uc001glj.1_Missense_Mutation_p.R706Q	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	705					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						CAGCTGCCTCCGAAGTTGCGC	0.572												
RALGPS2	55103	broad.mit.edu	37	1	178861408	178861408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:178861408C>T	uc001glz.2	+	15	1629	c.1291C>T	c.(1291-1293)CGA>TGA	p.R431*	RALGPS2_uc010pnb.1_Intron	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	431					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding				0						AAGAGTGGCACGAAATGGCTA	0.433												
CEP350	9857	broad.mit.edu	37	1	179991857	179991857	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:179991857G>A	uc001gnt.2	+	13	3643	c.3260G>A	c.(3259-3261)GGA>GAA	p.G1087E	CEP350_uc009wxl.2_Missense_Mutation_p.G1086E|CEP350_uc001gnu.2_Missense_Mutation_p.G921E	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1087						centrosome|nucleus|spindle				ovary(4)	4						TTGGACAGAGGAACATCAACA	0.413												
IER5	51278	broad.mit.edu	37	1	181058046	181058046	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:181058046T>A	uc001got.3	+	1	409	c.8T>A	c.(7-9)TTC>TAC	p.F3Y		NM_016545	NP_057629	Q5VY09	IER5_HUMAN	immediate early response 5	3										pancreas(1)	1						CAGATGGAGTTCAAGCTGGAG	0.622												
RGS8	85397	broad.mit.edu	37	1	182615870	182615870	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:182615870C>T	uc010pnw.1	-	7	801	c.543G>A	c.(541-543)TAG>TAA	p.*181*	RGS8_uc001gpn.1_Silent_p.*181*|RGS8_uc001gpm.1_Silent_p.*199*	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	regulator of G-protein signalling 8 isoform 2	181					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)	1						CTTCTGAGGTCTAACTGAGCC	0.483												
C1orf14	81626	broad.mit.edu	37	1	182922238	182922238	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:182922238C>T	uc001gpu.2	-	1	316	c.31G>A	c.(31-33)GCG>ACG	p.A11T	C1orf14_uc001gpv.2_5'UTR|C1orf14_uc010pnz.1_5'UTR|C1orf14_uc001gpw.2_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	chromosome 1 open reading frame 14	83											0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)		AATGAGTCCGCGGGCACCGAG	0.716												
HMCN1	83872	broad.mit.edu	37	1	186055508	186055508	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:186055508C>T	uc001grq.1	+	58	9244	c.9015C>T	c.(9013-9015)ATC>ATT	p.I3005I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3005	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AACAGCCCATCAAACTGAACA	0.388												
GLRX2	51022	broad.mit.edu	37	1	193066740	193066740	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:193066740G>T	uc001gsz.1	-	3	378	c.334C>A	c.(334-336)CTT>ATT	p.L112I	GLRX2_uc001gta.1_Missense_Mutation_p.L113I	NM_197962	NP_932066	Q9NS18	GLRX2_HUMAN	glutaredoxin 2 isoform 2	112	Glutaredoxin.				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity				0					Glutathione(DB00143)	ATTTTGTAAAGAGCATCTTGG	0.393												
ASPM	259266	broad.mit.edu	37	1	197099130	197099130	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:197099130A>G	uc001gtu.2	-	8	2801	c.2544T>C	c.(2542-2544)GCT>GCC	p.A848A	ASPM_uc001gtv.2_Silent_p.A848A|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	848					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						GAATAAACATAGCCAACCCTG	0.343												
KIF21B	23046	broad.mit.edu	37	1	200969527	200969527	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:200969527C>T	uc001gvs.1	-	11	1993	c.1676G>A	c.(1675-1677)CGG>CAG	p.R559Q	KIF21B_uc001gvr.1_Missense_Mutation_p.R559Q|KIF21B_uc009wzl.1_Missense_Mutation_p.R559Q|KIF21B_uc010ppn.1_Missense_Mutation_p.R559Q	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	559	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CCTCTTCCTCCGCTGCCTGAC	0.667												
CACNA1S	779	broad.mit.edu	37	1	201022613	201022613	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201022613G>A	uc001gvv.2	-	30	3996	c.3769C>T	c.(3769-3771)CTG>TTG	p.L1257L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1257	Cytoplasmic (Potential).|IV.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AACGTCCACAGGAGGGTTCGC	0.617												
IGFN1	91156	broad.mit.edu	37	1	201196200	201196200	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201196200G>A	uc001gwc.2	+	12	3229	c.2457G>A	c.(2455-2457)GCG>GCA	p.A819A	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3						GAAACCCCGCGGTGTACAGCA	0.657												
PPFIA4	8497	broad.mit.edu	37	1	203008345	203008345	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:203008345G>A	uc009xaj.2	+	6	650	c.650G>A	c.(649-651)CGC>CAC	p.R217H				O75335	LIPA4_HUMAN	SubName: Full=Liprin alpha4;	Error:Variant_position_missing_in_O75335_after_alignment					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CAGCTCCAGCGCCACCTTAAC	0.637											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LRRN2	10446	broad.mit.edu	37	1	204588727	204588727	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:204588727G>A	uc001hbe.1	-	3	782	c.394C>T	c.(394-396)CTG>TTG	p.L132L	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.L132L|LRRN2_uc009xbf.1_Silent_p.L132L|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	132	LRR 3.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTCCTCCAGCCGGGTCAGC	0.607												
CNTN2	6900	broad.mit.edu	37	1	205039135	205039135	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:205039135C>T	uc001hbr.2	+	18	2646	c.2377C>T	c.(2377-2379)CGC>TGC	p.R793C	CNTN2_uc001hbq.1_Missense_Mutation_p.R684C|CNTN2_uc001hbs.2_Missense_Mutation_p.R581C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	793	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCTACAACCGCCGCGGGGA	0.667												
AVPR1B	553	broad.mit.edu	37	1	206224692	206224692	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:206224692G>A	uc001hds.2	+	1	410	c.252G>A	c.(250-252)GCG>GCA	p.A84A		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	84	Helical; Name=2; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGGCCGTGGCGCTCTTCCAGG	0.662												
RASSF5	83593	broad.mit.edu	37	1	206757885	206757885	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:206757885C>T	uc001hed.2	+	4	914	c.857C>T	c.(856-858)GCC>GTC	p.A286V	RASSF5_uc001hec.1_Missense_Mutation_p.A286V|RASSF5_uc001hee.2_Missense_Mutation_p.A286V|RASSF5_uc001hef.2_Missense_Mutation_p.A133V|RASSF5_uc001heg.1_Missense_Mutation_p.A59V	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family 5	286	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			ovary(1)	1	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCCTAGATGCCATCAAGCAG	0.572												
PLXNA2	5362	broad.mit.edu	37	1	208225682	208225682	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:208225682C>T	uc001hgz.2	-	15	3741	c.2983G>A	c.(2983-2985)GAG>AAG	p.E995K		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	995	Extracellular (Potential).|IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCGTAGAACTCGCAGGTCTGG	0.547												
LAMB3	3914	broad.mit.edu	37	1	209806438	209806438	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:209806438G>A	uc001hhg.2	-	6	995	c.605C>T	c.(604-606)GCA>GTA	p.A202V	LAMB3_uc009xco.2_Missense_Mutation_p.A202V|LAMB3_uc001hhh.2_Missense_Mutation_p.A202V|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.A138V	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN	laminin, beta 3 precursor	202	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACTTTGAGTTGCTGGAATCCC	0.453												
C1orf107	27042	broad.mit.edu	37	1	210012437	210012437	+	Missense_Mutation	SNP	G	G	A	rs41275346	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:210012437G>A	uc001hhr.1	+	7	1322	c.1246G>A	c.(1246-1248)GTA>ATA	p.V416I	C1orf107_uc009xcu.1_Missense_Mutation_p.V131I	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	416					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TTATGAAGCCGTATTTGTGGG	0.433												
SERTAD4	56256	broad.mit.edu	37	1	210415016	210415016	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:210415016G>A	uc001hhy.2	+	4	584	c.405G>A	c.(403-405)TTG>TTA	p.L135L	SERTAD4_uc009xcw.2_Silent_p.L135L	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	135	SERTA.						protein binding			ovary(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TAAACAATTTGATGAAAAGGA	0.423												
KCNH1	3756	broad.mit.edu	37	1	210857061	210857061	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:210857061G>A	uc001hib.2	-	11	2702	c.2532C>T	c.(2530-2532)TGC>TGT	p.C844C	KCNH1_uc001hic.2_Silent_p.C817C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	844	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CACTCTTCCCGCAAGCATCTT	0.612												
HHIPL2	79802	broad.mit.edu	37	1	222713622	222713622	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:222713622G>A	uc001hnh.1	-	4	1238	c.1180C>T	c.(1180-1182)CGG>TGG	p.R394W		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	394					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		ACTCGGTACCGCTTGCCATGT	0.527												
DISP1	84976	broad.mit.edu	37	1	223175814	223175814	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:223175814G>A	uc001hnu.1	+	8	1222	c.1075G>A	c.(1075-1077)GCC>ACC	p.A359T		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	359					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)		AAACTACATCGCCATTCTGAA	0.498											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DISP1	84976	broad.mit.edu	37	1	223177193	223177193	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:223177193C>T	uc001hnu.1	+	8	2601	c.2454C>T	c.(2452-2454)ATC>ATT	p.I818I		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	818					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)		GTTTTAACATCGCCAGCCCAG	0.468												
DISP1	84976	broad.mit.edu	37	1	223178573	223178573	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:223178573A>G	uc001hnu.1	+	8	3981	c.3834A>G	c.(3832-3834)AAA>AAG	p.K1278K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1278					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)		ATGCCTACAAACACTTGAACT	0.537												
PARP1	142	broad.mit.edu	37	1	226566913	226566913	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:226566913G>T	uc001hqd.3	-	12	1846	c.1675C>A	c.(1675-1677)CTG>ATG	p.L559M		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	559					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATGTCCACCAGGCCAAGGGTG	0.537								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
GJC2	57165	broad.mit.edu	37	1	228346347	228346347	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228346347C>T	uc001hsk.2	+	2	1063	c.888C>T	c.(886-888)GAC>GAT	p.D296D		NM_020435	NP_065168	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	296	Cytoplasmic (Potential).				cell death	connexon complex|integral to membrane					0		Prostate(94;0.0405)				GCGCGCAGGACGCGGTGCGCG	0.552												
OBSCN	84033	broad.mit.edu	37	1	228402651	228402651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228402651G>A	uc009xez.1	+	5	1724	c.1680G>A	c.(1678-1680)TGG>TGA	p.W560*	OBSCN_uc001hsn.2_Nonsense_Mutation_p.W560*|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	560	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCTACACCTGGATCAGGTGCC	0.592												
OBSCN	84033	broad.mit.edu	37	1	228403459	228403459	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228403459C>T	uc009xez.1	+	6	2068	c.2024C>T	c.(2023-2025)GCC>GTC	p.A675V	OBSCN_uc001hsn.2_Missense_Mutation_p.A675V|uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	675	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GAGGTGCCCGCCAGCCTGCAC	0.657												
OBSCN	84033	broad.mit.edu	37	1	228481310	228481310	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228481310C>T	uc009xez.1	+	41	11168	c.11124C>T	c.(11122-11124)ACC>ACT	p.T3708T	OBSCN_uc001hsn.2_Silent_p.T3708T|OBSCN_uc001hsq.1_Silent_p.T964T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3708	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CCATGCTCACCGTCAGGGGTA	0.622												
OBSCN	84033	broad.mit.edu	37	1	228494787	228494787	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228494787C>T	uc009xez.1	+	45	12156	c.12112C>T	c.(12112-12114)CGC>TGC	p.R4038C	OBSCN_uc001hsn.2_Missense_Mutation_p.R4038C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4038	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GCTGCTGGTACGCGGAGTGGA	0.647												
OBSCN	84033	broad.mit.edu	37	1	228509323	228509323	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228509323G>A	uc009xez.1	+	55	14825	c.14781G>A	c.(14779-14781)GTG>GTA	p.V4927V	OBSCN_uc001hsn.2_Silent_p.V4927V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4927	Ig-like 48.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGGCAGATGTGCGAGCCCGCT	0.637												
OBSCN	84033	broad.mit.edu	37	1	228527676	228527676	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228527676G>A	uc009xez.1	+	70	17333	c.17289G>A	c.(17287-17289)ACG>ACA	p.T5763T	OBSCN_uc001hsn.2_Silent_p.T5763T|OBSCN_uc001hsr.1_Silent_p.T392T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	5763	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGTGCGACACGGACGACGACG	0.627												
OBSCN	84033	broad.mit.edu	37	1	228558393	228558393	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228558393C>T	uc009xez.1	+	93	20224	c.20180C>T	c.(20179-20181)GCG>GTG	p.A6727V	OBSCN_uc001hsr.1_Missense_Mutation_p.A1356V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	6727					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A7309V(1)		stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TCCATGCCTGCGGAGGAGGCC	0.617												
OBSCN	84033	broad.mit.edu	37	1	228564758	228564758	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:228564758G>A	uc009xez.1	+	101	23089	c.23045G>A	c.(23044-23046)CGC>CAC	p.R7682H	OBSCN_uc001hsr.1_Missense_Mutation_p.R2311H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7682	Protein kinase 2.|ATP (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				AGCAGGGGCCGCTTCAGCGTG	0.662												
EXOC8	149371	broad.mit.edu	37	1	231471747	231471747	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:231471747G>A	uc001huq.2	-	1	1832	c.1745C>T	c.(1744-1746)ACG>ATG	p.T582M		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	exocyst complex 84-kDa subunit	582					exocytosis|protein transport	growth cone|nucleus	protein binding			skin(1)	1	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGCTTCTGGCGTCATCAAGTT	0.458												
SIPA1L2	57568	broad.mit.edu	37	1	232577521	232577521	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:232577521C>A	uc001hvg.2	-	11	3689	c.3531G>T	c.(3529-3531)AGG>AGT	p.R1177S	SIPA1L2_uc001hvf.2_Missense_Mutation_p.R251S	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1177					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)				TACCCGGGTGCCTGCTTGCTT	0.552												
PCNXL2	80003	broad.mit.edu	37	1	233397867	233397867	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:233397867C>T	uc001hvl.2	-	3	639	c.404G>A	c.(403-405)CGA>CAA	p.R135Q	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	135						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAGAGGTTTCGACTGGCCTC	0.483												
NID1	4811	broad.mit.edu	37	1	236180456	236180456	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236180456G>A	uc001hxo.2	-	10	2348	c.2246C>T	c.(2245-2247)ACG>ATG	p.T749M	NID1_uc009xgd.2_Intron	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	749	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	ACCCACACACGTTCCCTCATC	0.483												
NID1	4811	broad.mit.edu	37	1	236192939	236192939	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236192939G>A	uc001hxo.2	-	7	1751	c.1649C>T	c.(1648-1650)ACG>ATG	p.T550M	NID1_uc009xgd.2_Missense_Mutation_p.T550M	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	550	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CTCCAGCTCCGTGTCGATGGT	0.632												
HEATR1	55127	broad.mit.edu	37	1	236749163	236749163	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236749163G>C	uc001hyd.1	-	16	2131	c.2006C>G	c.(2005-2007)GCT>GGT	p.A669G	HEATR1_uc009xgh.1_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	669					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TATATTATCAGCCAACAACTC	0.333												
HEATR1	55127	broad.mit.edu	37	1	236761267	236761267	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:236761267G>A	uc001hyd.1	-	5	639	c.514C>T	c.(514-516)CCG>TCG	p.P172S		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	172					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			ovary(2)|skin(1)	3	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTAGCTAACGGCACTCCAGAT	0.373												
RYR2	6262	broad.mit.edu	37	1	237580390	237580390	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:237580390G>A	uc001hyl.1	+	11	935	c.815G>A	c.(814-816)CGT>CAT	p.R272H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	272	Cytoplasmic (By similarity).|MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTCATGCACGTTCCCTTTGG	0.423												
CHRM3	1131	broad.mit.edu	37	1	240071340	240071340	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:240071340T>C	uc001hyp.2	+	5	1368	c.589T>C	c.(589-591)TTT>CTT	p.F197L		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	197	Helical; Name=4; (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGTCATCTCCTTTGTCCTTTG	0.517												
FMN2	56776	broad.mit.edu	37	1	240370881	240370881	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:240370881G>T	uc010pyd.1	+	5	2994	c.2769G>T	c.(2767-2769)CCG>CCT	p.P923P	FMN2_uc010pye.1_Silent_p.P927P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	923	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCTCCTCCGCCGCCTCTAC	0.672												
FMN2	56776	broad.mit.edu	37	1	240371493	240371493	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:240371493G>A	uc010pyd.1	+	5	3606	c.3381G>A	c.(3379-3381)GCG>GCA	p.A1127A	FMN2_uc010pye.1_Silent_p.A1131A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1127	Pro-rich.|FH1.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCGGAGCGGGCATACCCC	0.721												
EFCAB2	84288	broad.mit.edu	37	1	245245466	245245466	+	Splice_Site	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245245466T>A	uc001ibd.2	+	5	812	c.671_splice	c.e5+2	p.K224_splice	EFCAB2_uc001ibc.2_Splice_Site_p.K88_splice|EFCAB2_uc010pyo.1_Splice_Site_p.K98_splice|EFCAB2_uc010pyp.1_Splice_Site_p.K88_splice|EFCAB2_uc001ibe.2_Splice_Site	NR_026586		Q5VUJ9	EFCB2_HUMAN	RecName: Full=EF-hand calcium-binding domain-containing protein 2;								calcium ion binding				0	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AGAAAGAAAGTAAGTAAGTAA	0.343												
TFB2M	64216	broad.mit.edu	37	1	246707850	246707850	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:246707850C>T	uc001ibn.2	-	7	1117	c.992G>A	c.(991-993)CGC>CAC	p.R331H		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	331					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGTGGCGCTGCGCCTCCCAAA	0.333												
NLRP3	114548	broad.mit.edu	37	1	247607387	247607387	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:247607387G>A	uc001icr.2	+	9	2921	c.2783G>A	c.(2782-2784)GGG>GAG	p.G928E	NLRP3_uc001ics.2_Missense_Mutation_p.G871E|NLRP3_uc001icu.2_Missense_Mutation_p.G928E|NLRP3_uc001icw.2_Missense_Mutation_p.G871E|NLRP3_uc001icv.2_Missense_Mutation_p.G814E|NLRP3_uc010pyw.1_Missense_Mutation_p.G906E	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	928	LRR 7.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGAGACAAGGGGATCAAACTA	0.502												
OR2T8	343172	broad.mit.edu	37	1	248084484	248084484	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:248084484G>A	uc010pzc.1	+	1	165	c.165G>A	c.(163-165)ACG>ACA	p.T55T		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522												
OR2AK2	391191	broad.mit.edu	37	1	248129580	248129580	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:248129580T>C	uc010pzd.1	+	1	947	c.947T>C	c.(946-948)GTG>GCG	p.V316A	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	316	Cytoplasmic (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)			ACGGGGGCAGTGAGGAGACTG	0.418												
OR2M3	127062	broad.mit.edu	37	1	248366979	248366979	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:248366979A>G	uc010pzg.1	+	1	610	c.610A>G	c.(610-612)ATA>GTA	p.I204V		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCTGCTGTATAGTAATGAT	0.443												
ZNF692	55657	broad.mit.edu	37	1	249144569	249144569	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:249144569C>T	uc001ifc.1	-	12	1567	c.1400G>A	c.(1399-1401)CGT>CAT	p.R467H	ZNF692_uc001iez.1_Missense_Mutation_p.R189H|ZNF692_uc001ifa.1_Missense_Mutation_p.R189H|ZNF692_uc001ifb.1_Missense_Mutation_p.R263H|ZNF692_uc001ifd.1_Missense_Mutation_p.R466H|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.R422H|ZNF692_uc010pzr.1_Missense_Mutation_p.R472H	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	zinc finger protein 692 isoform 2	467	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACTTTTGCTACGGTGGGCTGC	0.617												
FBXO18	84893	broad.mit.edu	37	10	5966457	5966457	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:5966457A>T	uc001iis.2	+	17	2677	c.2582A>T	c.(2581-2583)GAT>GTT	p.D861V	FBXO18_uc001iir.2_Missense_Mutation_p.D787V|FBXO18_uc009xig.2_Missense_Mutation_p.D787V|FBXO18_uc001iit.2_Missense_Mutation_p.D912V	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	861					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						CATATAGAAGATTTGGACTTT	0.398												
IL15RA	3601	broad.mit.edu	37	10	6008297	6008297	+	Missense_Mutation	SNP	T	T	G	rs141286489		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:6008297T>G	uc001iiv.2	-	2	176	c.94A>C	c.(94-96)ACG>CCG	p.T32P	IL15RA_uc010qau.1_Missense_Mutation_p.T32P|IL15RA_uc001iiw.2_5'UTR|IL15RA_uc001iix.2_5'UTR|IL15RA_uc001iiy.2_Intron	NM_002189	NP_002180	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha isoform 1	32	Sushi.|Extracellular (Potential).				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0						GGAGGGCACGTGATGCCTGCG	0.557												
USP6NL	9712	broad.mit.edu	37	10	11504982	11504982	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:11504982C>T	uc001ikt.3	-	15	2266	c.1945G>A	c.(1945-1947)GCC>ACC	p.A649T	USP6NL_uc001iks.1_Missense_Mutation_p.A666T	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	649						intracellular	Rab GTPase activator activity				0						CTGCTGTTGGCAGTAGGGAAG	0.557												
MCM10	55388	broad.mit.edu	37	10	13237117	13237117	+	Missense_Mutation	SNP	C	C	T	rs74881009		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:13237117C>T	uc001ima.2	+	14	1926	c.1825C>T	c.(1825-1827)CGG>TGG	p.R609W	MCM10_uc001imb.2_Missense_Mutation_p.R608W|MCM10_uc001imc.2_Missense_Mutation_p.R608W	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	609					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TCAGCCTCCACGGACAGGATC	0.532												
BEND7	222389	broad.mit.edu	37	10	13523008	13523008	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:13523008C>T	uc001imm.2	-	6	1095	c.798G>A	c.(796-798)GCG>GCA	p.A266A	BEND7_uc001imn.2_Silent_p.A27A|BEND7_uc001imo.3_Silent_p.A279A	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	BEN domain containing 7 isoform 1	318	BEN.						protein binding			ovary(1)|breast(1)	2						CATCAAAAAACGCACACACCA	0.433												
ST8SIA6	338596	broad.mit.edu	37	10	17365073	17365073	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17365073A>G	uc001ipd.2	-	7	719	c.719T>C	c.(718-720)ATA>ACA	p.I240T	ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide	240	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(1)	1						CTTCAGAGTTATGATGCTTGG	0.368												
PTPLA	9200	broad.mit.edu	37	10	17636321	17636321	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17636321C>T	uc001ipg.2	-	6	702	c.667G>A	c.(667-669)GCT>ACT	p.A223T		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like, member A	223	Lumenal (Potential).				fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			central_nervous_system(1)|skin(1)	2						GGCAAGGCAGCGTATATTGTA	0.313												
STAM	8027	broad.mit.edu	37	10	17742261	17742261	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17742261C>T	uc001ipj.1	+	9	1111	c.895C>T	c.(895-897)CCA>TCA	p.P299S	STAM_uc010qcf.1_Missense_Mutation_p.P188S|STAM_uc009xjw.1_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	signal transducing adaptor molecule 1	299					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2						AGAGCCGGAACCAGCCTTTAT	0.328												
SLC39A12	221074	broad.mit.edu	37	10	18242200	18242200	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:18242200G>A	uc001ipo.2	+	2	268	c.-5G>A	c.(-7--3)GCGTG>GCATG		SLC39A12_uc001ipn.2_Translation_Start_Site|SLC39A12_uc001ipp.2_Translation_Start_Site|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TGGAGGAAGCGTGGAAATGTG	0.468												
PLXDC2	84898	broad.mit.edu	37	10	20290771	20290771	+	Silent	SNP	G	G	A	rs149037714		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:20290771G>A	uc001iqg.1	+	2	817	c.180G>A	c.(178-180)GCG>GCA	p.A60A	PLXDC2_uc001iqh.1_Silent_p.A60A	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	60	Extracellular (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						ATTCACACGCGTACAGCCACA	0.502												
DNAJC1	64215	broad.mit.edu	37	10	22048331	22048331	+	Missense_Mutation	SNP	G	G	A	rs141146821		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:22048331G>A	uc001irc.2	-	11	1651	c.1364C>T	c.(1363-1365)GCG>GTG	p.A455V	DNAJC1_uc001ird.2_Missense_Mutation_p.A341V	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	455	Cytoplasmic (By similarity).				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			lung(1)	1		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTCCGGCTTCGCTGTAGCCTC	0.632												
PIP4K2A	5305	broad.mit.edu	37	10	22880669	22880669	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:22880669C>A	uc001irl.3	-	4	629	c.381G>T	c.(379-381)CAG>CAT	p.Q127H	PIP4K2A_uc010qcu.1_Translation_Start_Site	NM_005028	NP_005019	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	127	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			ovary(1)|skin(1)	2						CACTGCGGGCCTGGGAGTCGT	0.532												
MYO3A	53904	broad.mit.edu	37	10	26315378	26315378	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:26315378T>C	uc001isn.2	+	10	1230	c.870T>C	c.(868-870)ATT>ATC	p.I290I	MYO3A_uc009xko.1_Silent_p.I290I|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.I290I	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	290					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TTACTCAAATTGAGGGCAAAG	0.378												
MYO3A	53904	broad.mit.edu	37	10	26500869	26500869	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:26500869C>T	uc001isn.2	+	35	5188	c.4828C>T	c.(4828-4830)CGG>TGG	p.R1610W	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.P625L	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1610					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						CTCCCAGCGCCGGCGCCTCGT	0.687												
ITGB1	3688	broad.mit.edu	37	10	33218834	33218834	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:33218834G>A	uc001iws.3	-	4	428	c.292C>T	c.(292-294)CGT>TGT	p.R98C	ITGB1_uc001iwp.3_Missense_Mutation_p.R98C|ITGB1_uc001iwq.3_Missense_Mutation_p.R98C|ITGB1_uc001iwr.3_Missense_Mutation_p.R98C|ITGB1_uc001iwt.3_Missense_Mutation_p.R98C|ITGB1_uc001iwu.1_Missense_Mutation_p.R98C	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	98	Extracellular (Potential).				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CCTTTGCTACGGTTGGTTACA	0.408												
RBP3	5949	broad.mit.edu	37	10	48388554	48388554	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:48388554G>A	uc001jez.2	-	1	2438	c.2324C>T	c.(2323-2325)ACG>ATG	p.T775M		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	775	4 X approximate tandem repeats.|3.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	CAGCGCAGCCGTGTCCACCAG	0.637												
ERCC6	2074	broad.mit.edu	37	10	50691467	50691467	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:50691467G>A	uc001jhs.3	-	9	2071	c.1917C>T	c.(1915-1917)GAC>GAT	p.D639D	ERCC6_uc010qgr.1_Silent_p.D9D|ERCC6_uc001jhr.3_Silent_p.D39D	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	639	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CATAGTGCCAGTCATACCTGC	0.418								Direct_reversal_of_damage|NER				
PCDH15	65217	broad.mit.edu	37	10	55583033	55583033	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:55583033A>G	uc001jju.1	-	33	4848	c.4453T>C	c.(4453-4455)TTT>CTT	p.F1485L	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.F1482L|PCDH15_uc010qhw.1_Missense_Mutation_p.F1445L|PCDH15_uc010qhx.1_Missense_Mutation_p.F1416L|PCDH15_uc010qhy.1_Missense_Mutation_p.F1492L|PCDH15_uc010qhz.1_Missense_Mutation_p.F1487L|PCDH15_uc010qia.1_Missense_Mutation_p.F1465L|PCDH15_uc010qib.1_Missense_Mutation_p.F1462L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1485	Cytoplasmic (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGGAAGAAAAGGGCATCACA	0.383										HNSCC(58;0.16)		
RTKN2	219790	broad.mit.edu	37	10	63959523	63959523	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:63959523G>A	uc001jlw.2	-	11	1381	c.1284C>T	c.(1282-1284)TAC>TAT	p.Y428Y	RTKN2_uc009xpf.1_Silent_p.Y230Y|RTKN2_uc001jlv.2_Silent_p.Y82Y	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	rhotekin 2	428					signal transduction	intracellular					0	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCATATCATGGTAGACTGAGG	0.383												
CTNNA3	29119	broad.mit.edu	37	10	68940230	68940230	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:68940230G>A	uc009xpn.1	-	7	1015	c.892C>T	c.(892-894)CCA>TCA	p.P298S	CTNNA3_uc001jmw.2_Missense_Mutation_p.P298S|CTNNA3_uc001jmx.3_Missense_Mutation_p.P298S|CTNNA3_uc009xpo.1_Missense_Mutation_p.P158S|CTNNA3_uc001jna.2_Missense_Mutation_p.P310S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	298					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						TCTAGTGATGGTCGTATTTCC	0.448												
TET1	80312	broad.mit.edu	37	10	70332337	70332337	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:70332337G>A	uc001jok.3	+	2	747	c.242G>A	c.(241-243)CGC>CAC	p.R81H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	81					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9						GGAGCAGCACGCATGAATTTG	0.438												
DDX50	79009	broad.mit.edu	37	10	70706238	70706238	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:70706238G>A	uc001jou.2	+	15	2173	c.2066G>A	c.(2065-2067)CGG>CAG	p.R689Q	DDX50_uc010qjc.1_Intron	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	nucleolar protein GU2	689	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1						CGATCAGGCCGGTCAGGCCGG	0.517												
ADAMTS14	140766	broad.mit.edu	37	10	72498727	72498727	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:72498727C>T	uc001jrh.2	+	11	1729	c.1729C>T	c.(1729-1731)CGG>TGG	p.R577W	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R580W|ADAMTS14_uc001jri.1_Missense_Mutation_p.R100W	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	577	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						ATCCCGCAGCCGGAGCTGCAA	0.672												
CDH23	64072	broad.mit.edu	37	10	73462408	73462408	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:73462408C>T	uc001jrx.3	+	23	3067	c.2690C>T	c.(2689-2691)GCC>GTC	p.A897V	CDH23_uc001jry.2_Missense_Mutation_p.A513V|CDH23_uc001jrz.2_Missense_Mutation_p.A513V	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	897	Cadherin 9.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CCTTTTGTGGCCGAGGTGCTT	0.572												
CDH23	64072	broad.mit.edu	37	10	73491781	73491781	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:73491781C>T	uc001jrx.3	+	31	4130	c.3753C>T	c.(3751-3753)GGC>GGT	p.G1251G	CDH23_uc001jrz.2_Silent_p.G867G|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Silent_p.G59G	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1251	Cadherin 12.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						TCCTGTCGGGCGCAGAGGGGA	0.557												
CDH23	64072	broad.mit.edu	37	10	73501579	73501579	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:73501579C>T	uc001jrx.3	+	36	5123	c.4746C>T	c.(4744-4746)AGC>AGT	p.S1582S	CDH23_uc001jsc.1_Silent_p.S389S	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1582	Cadherin 15.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						ACCGCATCAGCGGTGAGATCG	0.632												
PLAU	5328	broad.mit.edu	37	10	75673765	75673765	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:75673765C>T	uc001jwa.2	+	8	854	c.708C>T	c.(706-708)ATC>ATT	p.I236I	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Silent_p.I219I|PLAU_uc010qkx.1_Silent_p.I150I|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Silent_p.I236I|PLAU_uc009xrq.1_Silent_p.I200I	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	236	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGGACTACATCGTCTACCTGG	0.507												
MYST4	23522	broad.mit.edu	37	10	76789460	76789460	+	Nonsense_Mutation	SNP	C	C	A	rs146568876		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:76789460C>A	uc001jwn.1	+	18	5371	c.4878C>A	c.(4876-4878)TAC>TAA	p.Y1626*	MYST4_uc001jwo.1_Nonsense_Mutation_p.Y1334*|MYST4_uc001jwp.1_Nonsense_Mutation_p.Y1443*	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	1626	Ser-rich.|Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)					AAAACAGCTACGCCCAAATCA	0.527			T	CREBBP	AML							
ANXA11	311	broad.mit.edu	37	10	81917463	81917463	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:81917463G>A	uc001kbq.1	-	16	2217	c.1392C>T	c.(1390-1392)ACC>ACT	p.T464T	ANXA11_uc010qlx.1_Silent_p.T564T|ANXA11_uc001kbr.1_Silent_p.T464T|ANXA11_uc001kbs.1_Silent_p.T464T|ANXA11_uc001kbt.1_Silent_p.T464T|ANXA11_uc010qly.1_Silent_p.T431T|ANXA11_uc009xsq.1_Silent_p.T468T|ANXA11_uc001kbu.1_Silent_p.T464T	NM_145869	NP_665876	P50995	ANX11_HUMAN	annexin A11	464	Annexin 4.				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			ovary(1)	1	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCAGGAGGTCGGTCTCGCTGC	0.587												
NRG3	10718	broad.mit.edu	37	10	84745202	84745202	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:84745202C>A	uc001kco.2	+	9	1959	c.1932C>A	c.(1930-1932)GCC>GCA	p.A644A	NRG3_uc010qlz.1_Silent_p.A643A|NRG3_uc001kcp.2_Silent_p.A447A|NRG3_uc001kcq.2_Silent_p.A294A|NRG3_uc001kcr.2_Silent_p.A318A	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	668	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGACTGATGCCAGACGGTCAG	0.478												
BMPR1A	657	broad.mit.edu	37	10	88659627	88659627	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:88659627C>T	uc001kdy.2	+	6	958	c.410C>T	c.(409-411)ACA>ATA	p.T137I		NM_004329	NP_004320	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	137	Extracellular (Potential).				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8						TTGCAACCCACACTGCCCCCT	0.423			Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis			
MMRN2	79812	broad.mit.edu	37	10	88702881	88702881	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:88702881C>A	uc001kea.2	-	6	1787	c.1660G>T	c.(1660-1662)GGC>TGC	p.G554C	MMRN2_uc010qmn.1_Missense_Mutation_p.G197C|MMRN2_uc009xtb.2_Missense_Mutation_p.G511C	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	multimerin 2 precursor	554	Potential.					extracellular space				large_intestine(1)	1						GCCCGCTCGCCCTCCGCTTTG	0.766												
STAMBPL1	57559	broad.mit.edu	37	10	90665312	90665312	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:90665312C>A	uc001kfk.2	+	3	566	c.143C>A	c.(142-144)CCA>CAA	p.P48Q	STAMBPL1_uc010qmx.1_Missense_Mutation_p.P48Q|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.P48Q|STAMBPL1_uc001kfm.2_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	48							metal ion binding|metallopeptidase activity|protein binding			ovary(1)	1		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GACATCACTCCACGACGTTAC	0.433												
IDE	3416	broad.mit.edu	37	10	94221002	94221002	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94221002A>G	uc001kia.2	-	22	2845	c.2769T>C	c.(2767-2769)ACT>ACC	p.T923T	IDE_uc010qnp.1_Silent_p.T368T|IDE_uc001khz.2_Silent_p.T368T	NM_004969	NP_004960	P14735	IDE_HUMAN	insulin-degrading enzyme isoform 1 precursor	923					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGCAACCTCAGTGTTATCTG	0.294												
CYP26C1	340665	broad.mit.edu	37	10	94822567	94822567	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94822567G>A	uc010qns.1	+	3	520	c.520G>A	c.(520-522)GCG>ACG	p.A174T	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	174					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				CTCCTGGTGCGCGGCGGGCGG	0.741												
CYP26C1	340665	broad.mit.edu	37	10	94822703	94822703	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94822703A>T	uc010qns.1	+	3	656	c.656A>T	c.(655-657)GAG>GTG	p.E219V	CYP26C1_uc009xud.2_RNA	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C,	219					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)	1		Colorectal(252;0.122)				CAGCTCGTGGAGAACCTCTTC	0.697												
CYP26A1	1592	broad.mit.edu	37	10	94833762	94833762	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94833762C>T	uc001kil.2	+	1	116	c.71C>T	c.(70-72)GCG>GTG	p.A24V	CYP26A1_uc001kik.1_Intron|CYP26A1_uc001kim.1_5'Flank	NM_000783	NP_000774	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A,	24					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3		Colorectal(252;0.122)				TTCCTGGCTGCGATCAAGCTC	0.697												
LGI1	9211	broad.mit.edu	37	10	95556956	95556956	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:95556956C>T	uc001kjc.3	+	8	1406	c.1070C>T	c.(1069-1071)ACT>ATT	p.T357I	LGI1_uc010qnv.1_Missense_Mutation_p.T309I|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	357	EAR 3.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)				GCTGGTTTTACTACCATTTAC	0.378												
BLNK	29760	broad.mit.edu	37	10	97956800	97956800	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:97956800C>T	uc001kls.3	-	16	1293	c.1115G>A	c.(1114-1116)CGG>CAG	p.R372Q	BLNK_uc001kme.3_Missense_Mutation_p.R267Q|BLNK_uc001klt.3_Missense_Mutation_p.R263Q|BLNK_uc009xvc.2_RNA|BLNK_uc001klu.3_Intron|BLNK_uc001klv.3_Intron|BLNK_uc001klw.3_Intron|BLNK_uc001klx.3_Missense_Mutation_p.R349Q|BLNK_uc001kly.3_Intron|BLNK_uc001klz.3_RNA|BLNK_uc001kma.3_Intron|BLNK_uc001kmb.3_Missense_Mutation_p.R168Q|BLNK_uc001kmc.3_Intron|BLNK_uc001kmd.3_Missense_Mutation_p.R290Q|BLNK_uc009xvd.2_RNA	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	B-cell linker isoform 1	372	SH2.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(2)	2		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGAGCTTTTCCGAATAAGAAA	0.274												
PIK3AP1	118788	broad.mit.edu	37	10	98369534	98369534	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:98369534A>G	uc001kmq.2	-	14	2233	c.2105T>C	c.(2104-2106)GTC>GCC	p.V702A	PIK3AP1_uc001kmo.2_Missense_Mutation_p.V301A|PIK3AP1_uc001kmp.2_Missense_Mutation_p.V524A	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	702						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGGGGAATGACACTTTTCCT	0.567												
RRP12	23223	broad.mit.edu	37	10	99118343	99118343	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:99118343G>A	uc001knf.2	-	33	3881	c.3742C>T	c.(3742-3744)CCG>TCG	p.P1248S	RRP12_uc001kne.2_Missense_Mutation_p.P263S|RRP12_uc009xvl.2_Missense_Mutation_p.P365S|RRP12_uc009xvm.2_Missense_Mutation_p.P966S|RRP12_uc010qou.1_Missense_Mutation_p.P1187S|RRP12_uc009xvn.2_Missense_Mutation_p.P1148S	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	1248						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAGGGATCCGGCCGGCCTTTC	0.582												
GOLGA7B	401647	broad.mit.edu	37	10	99623943	99623943	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:99623943C>T	uc001kos.2	+	4	375	c.310C>T	c.(310-312)CGC>TGC	p.R104C		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	golgi autoantigen, golgin subfamily a, 7B	104						Golgi membrane					0						GAAGATTTCCCGCTACATCCA	0.567												
NKX2-3	159296	broad.mit.edu	37	10	101294895	101294895	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:101294895G>A	uc009xwj.2	+	2	711	c.512G>A	c.(511-513)CGG>CAG	p.R171Q		NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	NK2 transcription factor related, locus 3	171	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		AAGCAGCAGCGGTACCTGTCG	0.627												
COX15	1355	broad.mit.edu	37	10	101491804	101491804	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:101491804C>T	uc001kqb.3	-	1	620	c.3G>A	c.(1-3)ATG>ATA	p.M1I	COX15_uc001kqc.3_Missense_Mutation_p.M1I|COX15_uc010qpj.1_5'UTR|CUTC_uc010qpk.1_5'Flank|CUTC_uc001kqd.3_5'Flank|CUTC_uc001kqe.3_5'Flank	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	COX15 homolog isoform 1	1					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCAATCGCTGCATACTGATGA	0.617												
WNT8B	7479	broad.mit.edu	37	10	102242433	102242433	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102242433G>A	uc001krb.2	+	6	1030	c.916G>A	c.(916-918)GTG>ATG	p.V306M		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family,	306					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			ovary(1)|breast(1)|large_intestine(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GGCCGAGACCGTGTCCAGCTG	0.726											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SEC31B	25956	broad.mit.edu	37	10	102265959	102265959	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102265959C>A	uc001krc.1	-	9	985	c.883_splice	c.e9-1	p.V295_splice	SEC31B_uc010qpo.1_Splice_Site_p.V294_splice|SEC31B_uc001krd.1_Splice_Site|SEC31B_uc001krf.1_Splice_Site|SEC31B_uc001kre.1_Splice_Site|SEC31B_uc001krg.1_Splice_Site|SEC31B_uc010qpp.1_Intron|SEC31B_uc009xwn.1_Intron|SEC31B_uc009xwo.1_Intron|SEC31B_uc010qpq.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TATATACCACCTAATATGAGG	0.527												
FAM178A	55719	broad.mit.edu	37	10	102684492	102684492	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102684492A>G	uc001krt.3	+	5	2276	c.1734A>G	c.(1732-1734)TCA>TCG	p.S578S	FAM178A_uc001krr.1_Silent_p.S578S|FAM178A_uc001krs.2_Silent_p.S578S|FAM178A_uc001kru.1_Silent_p.S513S	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	578											0						AAGCCCCTTCAGAAGGAGAGA	0.463												
FAM178A	55719	broad.mit.edu	37	10	102719203	102719203	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102719203A>G	uc001krt.3	+	19	3978	c.3436A>G	c.(3436-3438)AGG>GGG	p.R1146G	FAM178A_uc001krs.2_Missense_Mutation_p.R1146G	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	1146											0						CTTGGTCGCCAGGATACATGG	0.353												
MRPL43	84545	broad.mit.edu	37	10	102739097	102739097	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102739097G>T	uc001kry.1	-	5	633	c.561C>A	c.(559-561)TCC>TCA	p.S187S	SEMA4G_uc001krv.2_Intron|SEMA4G_uc010qpt.1_Intron|SEMA4G_uc001krw.1_Intron|SEMA4G_uc001krx.2_Intron|MRPL43_uc010qpu.1_Missense_Mutation_p.L230I	NM_176792	NP_789762	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43 isoform b	187					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AGGTCAATGAGGATGAGATAG	0.403												
NPM3	10360	broad.mit.edu	37	10	103543108	103543108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:103543108G>A	uc001ktt.2	-	1	63	c.40C>T	c.(40-42)CAG>TAG	p.Q14*		NM_006993	NP_008924	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	14							nucleic acid binding				0		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGGCTCTCCTGACTCAAAAAC	0.627												
GBF1	8729	broad.mit.edu	37	10	104128514	104128514	+	Silent	SNP	C	C	T	rs141570106		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104128514C>T	uc001kux.1	+	23	3135	c.2895C>T	c.(2893-2895)TCC>TCT	p.S965S	GBF1_uc001kuy.1_Silent_p.S965S|GBF1_uc001kuz.1_Silent_p.S966S	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	965					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCATGATCTCCGCCCACTATG	0.532												
GBF1	8729	broad.mit.edu	37	10	104129937	104129937	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104129937G>A	uc001kux.1	+	27	3583	c.3343G>A	c.(3343-3345)GAC>AAC	p.D1115N	GBF1_uc001kuy.1_Missense_Mutation_p.D1115N|GBF1_uc001kuz.1_Missense_Mutation_p.D1116N	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1115					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTAGCAATGTGACCCAGAAAA	0.498												
GBF1	8729	broad.mit.edu	37	10	104130552	104130552	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104130552C>T	uc001kux.1	+	29	3832	c.3592C>T	c.(3592-3594)CGG>TGG	p.R1198W	GBF1_uc001kuy.1_Missense_Mutation_p.R1198W|GBF1_uc001kuz.1_Missense_Mutation_p.R1199W	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	1198					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTTGTGGAGCGGGCAGTGGT	0.542												
NEURL	9148	broad.mit.edu	37	10	105330652	105330652	+	Missense_Mutation	SNP	G	G	A	rs143041435		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:105330652G>A	uc001kxh.2	+	2	519	c.109G>A	c.(109-111)GTC>ATC	p.V37I		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	37					nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCCCTTCCCCGTCACTTCTCA	0.647												
PNLIP	5406	broad.mit.edu	37	10	118307977	118307977	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:118307977C>T	uc001lcm.2	+	4	350	c.307C>T	c.(307-309)CTG>TTG	p.L103L		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	103					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.338												
BAG3	9531	broad.mit.edu	37	10	121411231	121411231	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:121411231G>A	uc001lem.2	+	1	350	c.44G>A	c.(43-45)GGC>GAC	p.G15D	BAG3_uc001lel.2_Missense_Mutation_p.G15D	NM_004281	NP_004272	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	15					anti-apoptosis|apoptosis|protein folding	cytosol				ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GTGGCGTCCGGCAACGGTGAC	0.716												
INPP5F	22876	broad.mit.edu	37	10	121586728	121586728	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:121586728C>T	uc001leo.2	+	20	3001	c.2835C>T	c.(2833-2835)GAC>GAT	p.D945D	INPP5F_uc001lep.2_Silent_p.D335D	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	945							phosphoric ester hydrolase activity			ovary(2)	2		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGCTGGCGACGTACACATAT	0.468												
BTBD16	118663	broad.mit.edu	37	10	124096124	124096124	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:124096124G>A	uc001lgc.1	+	15	1630	c.1379G>A	c.(1378-1380)GGC>GAC	p.G460D	BTBD16_uc001lgd.1_Missense_Mutation_p.G459D	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	460										skin(1)	1		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CTGGTTGACGGCAAGTGGCAG	0.542												
DMBT1	1755	broad.mit.edu	37	10	124353109	124353109	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:124353109G>C	uc001lgk.1	+	21	2631	c.2525G>C	c.(2524-2526)AGT>ACT	p.S842T	DMBT1_uc001lgl.1_Missense_Mutation_p.S832T|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.S842T|DMBT1_uc010qtx.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	842					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGACACCCAGTCCAGGTAGG	0.522												
HMX3	340784	broad.mit.edu	37	10	124896767	124896767	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:124896767G>A	uc010quc.1	+	2	594	c.594G>A	c.(592-594)GCG>GCA	p.A198A		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	198					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity				0		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGGCCGGGGCGAGCGTAGGGG	0.657												
CPXM2	119587	broad.mit.edu	37	10	125526656	125526656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:125526656C>A	uc001lhk.1	-	10	1637	c.1312G>T	c.(1312-1314)GGA>TGA	p.G438*	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	438					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACCAGCCTCCCAGCTCCGAG	0.547												
CHST15	51363	broad.mit.edu	37	10	125780886	125780886	+	Silent	SNP	G	G	A	rs139630938	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:125780886G>A	uc001lhl.2	-	5	1746	c.1233C>T	c.(1231-1233)TCC>TCT	p.S411S	CHST15_uc001lhm.2_Silent_p.S411S|CHST15_uc001lhn.2_Silent_p.S411S|CHST15_uc010que.1_Silent_p.S411S|CHST15_uc001lho.2_Silent_p.S411S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	411	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						AGTCGTCCGCGGATTTATTCG	0.418												
CHST15	51363	broad.mit.edu	37	10	125801889	125801889	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:125801889C>T	uc001lhl.2	-	3	1474	c.961G>A	c.(961-963)GCA>ACA	p.A321T	CHST15_uc001lhm.2_Missense_Mutation_p.A321T|CHST15_uc001lhn.2_Missense_Mutation_p.A321T|CHST15_uc010que.1_Missense_Mutation_p.A321T|CHST15_uc001lho.2_Missense_Mutation_p.A321T	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	B cell RAG associated protein	321	Lumenal (Potential).				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			ovary(1)	1						ATCTGGTGTGCGGCCAGGTCA	0.527												
CTBP2	1488	broad.mit.edu	37	10	126682504	126682504	+	Silent	SNP	G	G	A	rs148275243		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:126682504G>A	uc009yak.2	-	8	1118	c.831C>T	c.(829-831)GAC>GAT	p.D277D	CTBP2_uc009yal.2_Silent_p.D277D|CTBP2_uc001lif.3_Silent_p.D277D|CTBP2_uc001lih.3_Silent_p.D277D|CTBP2_uc001lid.3_Silent_p.D345D|CTBP2_uc001lie.3_Silent_p.D817D	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	277					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGCTTTCTCGTCCACCAGGC	0.607												
CTBP2	1488	broad.mit.edu	37	10	126691913	126691913	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:126691913G>A	uc009yak.2	-	4	494	c.207C>T	c.(205-207)CAC>CAT	p.H69H	CTBP2_uc009yal.2_Silent_p.H69H|CTBP2_uc001lif.3_Silent_p.H69H|CTBP2_uc001lih.3_Silent_p.H69H|CTBP2_uc001lid.3_Silent_p.H137H|CTBP2_uc001lie.3_Silent_p.H609H	NM_001329	NP_001320	P56545	CTBP2_HUMAN	C-terminal binding protein 2 isoform 1	69					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding				0		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCTTCTCGTGGATTTCCT	0.667												
C10orf90	118611	broad.mit.edu	37	10	128192694	128192694	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:128192694C>T	uc001ljq.2	-	3	1196	c.1075G>A	c.(1075-1077)GCT>ACT	p.A359T	C10orf90_uc001ljp.2_Missense_Mutation_p.A312T|C10orf90_uc010qum.1_Missense_Mutation_p.A456T|C10orf90_uc009yao.2_Missense_Mutation_p.A456T|C10orf90_uc001ljs.1_Missense_Mutation_p.A312T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	359										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CAAGGACAAGCGCCGGTCCCC	0.512											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EBF3	253738	broad.mit.edu	37	10	131638574	131638574	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:131638574G>A	uc001lki.1	-	15	1618	c.1559C>T	c.(1558-1560)CCC>CTC	p.P520L		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	565					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)		CCGGACCACGGGCGCGAAGGC	0.622												
PKP3	11187	broad.mit.edu	37	11	400009	400009	+	Missense_Mutation	SNP	G	G	A	rs144679997		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:400009G>A	uc001lpc.2	+	6	1392	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H		NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	plakophilin 3	439					cell adhesion	desmosome|nucleus	binding			skin(1)	1		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAAGGACCGCCTGGCCAGA	0.662												
PHRF1	57661	broad.mit.edu	37	11	609301	609301	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:609301A>T	uc001lqe.2	+	14	3976	c.3845A>T	c.(3844-3846)CAG>CTG	p.Q1282L	PHRF1_uc010qwc.1_Missense_Mutation_p.Q1281L|PHRF1_uc010qwd.1_Missense_Mutation_p.Q1280L|PHRF1_uc010qwe.1_Missense_Mutation_p.Q1278L|PHRF1_uc009ybz.1_Missense_Mutation_p.Q1072L|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1282							RNA polymerase binding|zinc ion binding				0						GTTTTCATCCAGCTCGATGAC	0.607												
DEAF1	10522	broad.mit.edu	37	11	679753	679753	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:679753G>A	uc001lqq.1	-	8	1754	c.1061C>T	c.(1060-1062)ACG>ATG	p.T354M	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	354					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGCCTCTACCGTGGACGCTCG	0.642												
CHID1	66005	broad.mit.edu	37	11	900108	900108	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:900108G>A	uc001lsl.2	-	6	603	c.442C>T	c.(442-444)CCT>TCT	p.P148S	CHID1_uc010qwu.1_Missense_Mutation_p.P178S|CHID1_uc010qwv.1_Missense_Mutation_p.P209S|CHID1_uc001lsn.2_Missense_Mutation_p.P173S|CHID1_uc001lsm.2_Missense_Mutation_p.P148S|CHID1_uc001lso.2_Missense_Mutation_p.P148S|CHID1_uc001lsp.2_Missense_Mutation_p.P148S|CHID1_uc010qww.1_Missense_Mutation_p.P148S	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1 isoform a	148					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		AGGAGCCGAGGCACTGCAGGG	0.587												
AP2A2	161	broad.mit.edu	37	11	993774	993774	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:993774T>C	uc001lss.2	+	13	1752	c.1571T>C	c.(1570-1572)CTG>CCG	p.L524P	AP2A2_uc001lst.1_Missense_Mutation_p.L525P|AP2A2_uc009yco.1_RNA|AP2A2_uc009ycq.1_Missense_Mutation_p.L115P	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	524					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGTTCCACCTGCTGCACTCC	0.687												
MUC2	4583	broad.mit.edu	37	11	1081791	1081791	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:1081791C>A	uc001lsx.1	+	13	1746	c.1719C>A	c.(1717-1719)CCC>CCA	p.P573P		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	573	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGACGATCCCTGCTCCCTGA	0.677												
MUC2	4583	broad.mit.edu	37	11	1083287	1083287	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:1083287G>A	uc001lsx.1	+	16	2214	c.2187G>A	c.(2185-2187)GCG>GCA	p.A729A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	729						inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCTGGAGGCGGGGGATGTGG	0.672												
SLC22A18	5002	broad.mit.edu	37	11	2924669	2924669	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:2924669C>A	uc001lwx.2	+	2	312	c.94C>A	c.(94-96)CTG>ATG	p.L32M	SLC22A18AS_uc001lwv.3_Intron|SLC22A18AS_uc001lww.3_Intron|SLC22A18_uc001lwy.2_Missense_Mutation_p.L32M|SLC22A18_uc001lwz.2_Missense_Mutation_p.L32M	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	tumor suppressing subtransferable candidate 5	32	Helical; (Potential).				excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|ovary(1)	3		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTACGTGCTGGCCGCCAC	0.652												
CHRNA10	57053	broad.mit.edu	37	11	3688709	3688709	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:3688709G>A	uc001lyf.2	-	4	720	c.648C>T	c.(646-648)TAC>TAT	p.Y216Y	CHRNA10_uc010qxt.1_Silent_p.Y10Y|CHRNA10_uc010qxu.1_Silent_p.Y10Y	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10	216	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			ovary(1)	1		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	AGCAGCAGCCGTAGGTGAGCA	0.731												
OR52A5	390054	broad.mit.edu	37	11	5153860	5153860	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:5153860T>C	uc010qyx.1	-	1	13	c.13A>G	c.(13-15)AAT>GAT	p.N5D		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|lung(1)|central_nervous_system(1)	4		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACTGAGCCATTGAATGTCGGC	0.388												
OR52N4	390072	broad.mit.edu	37	11	5776875	5776875	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:5776875T>G	uc001mbu.2	+	1	953	c.905T>G	c.(904-906)ATA>AGA	p.I302R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N,	302	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ACCAAACAGATACGAGACTGT	0.428												
ILK	3611	broad.mit.edu	37	11	6631234	6631234	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6631234G>A	uc001mee.2	+	11	1181	c.1046G>A	c.(1045-1047)CGC>CAC	p.R349H	ILK_uc001mef.2_Missense_Mutation_p.R349H|ILK_uc010rap.1_Missense_Mutation_p.R215H|ILK_uc010raq.1_Missense_Mutation_p.R288H|ILK_uc001meg.2_Missense_Mutation_p.R195H|ILK_uc001meh.2_Missense_Mutation_p.R349H|ILK_uc001mei.2_5'Flank	NM_001014794	NP_001014794	Q13418	ILK_HUMAN	integrin-linked kinase	349	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TGTCCTGGTCGCATGTATGCA	0.502												
DCHS1	8642	broad.mit.edu	37	11	6648203	6648203	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6648203C>A	uc001mem.1	-	14	6477	c.6067G>T	c.(6067-6069)GCC>TCC	p.A2023S		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2023	Cadherin 19.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAGCGGGCCACGCGGATT	0.577												
DCHS1	8642	broad.mit.edu	37	11	6651814	6651814	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6651814G>A	uc001mem.1	-	10	4621	c.4211C>T	c.(4210-4212)GCG>GTG	p.A1404V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1404	Cadherin 13.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCGTAAGCGCGCGCCACGG	0.731												
DCHS1	8642	broad.mit.edu	37	11	6662035	6662035	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:6662035A>G	uc001mem.1	-	2	1220	c.810T>C	c.(808-810)CCT>CCC	p.P270P		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	270	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGACTGCCAGGGGCCAGGC	0.597												
PPFIBP2	8495	broad.mit.edu	37	11	7670467	7670467	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:7670467G>A	uc001mfj.3	+	20	2386	c.1998_splice	c.e20+1	p.V666_splice	PPFIBP2_uc010rbb.1_Splice_Site_p.V589_splice|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Splice_Site_p.V600_splice|PPFIBP2_uc010rbe.1_Splice_Site_p.V554_splice|PPFIBP2_uc001mfl.3_Splice_Site_p.V523_splice|PPFIBP2_uc009yfj.1_Splice_Site_p.V310_splice	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2						cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			ovary(2)|breast(2)	4				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTAACTGTGGTGAGGACTTT	0.398												
SBF2	81846	broad.mit.edu	37	11	9810688	9810688	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:9810688T>C	uc001mib.2	-	35	5038	c.4900A>G	c.(4900-4902)ACT>GCT	p.T1634A	uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.T278A|SBF2_uc001mic.2_5'Flank|uc001mie.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1634	Interaction with MTMR2.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCAGGCTGAGTACAGCTGACA	0.577												
SOX6	55553	broad.mit.edu	37	11	16208344	16208344	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:16208344G>A	uc001mme.2	-	5	765	c.732C>T	c.(730-732)CGC>CGT	p.R244R	SOX6_uc001mmd.2_Silent_p.R234R|SOX6_uc001mmf.2_Silent_p.R231R|SOX6_uc001mmg.2_Silent_p.R231R	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6 isoform 4	231	Potential.|Gln-rich.				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			ovary(3)	3						CTTGCTGTTGGCGAGCAAGGT	0.478												
MRGPRX3	117195	broad.mit.edu	37	11	18159128	18159128	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:18159128C>T	uc001mnu.2	+	3	740	c.379C>T	c.(379-381)CCC>TCC	p.P127S		NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	127	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2						CATCCTGTGGCCCATCTGGTA	0.572												
ANO5	203859	broad.mit.edu	37	11	22296135	22296135	+	Silent	SNP	G	G	A	rs144048656		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:22296135G>A	uc001mqi.2	+	20	2573	c.2256G>A	c.(2254-2256)ACG>ACA	p.T752T	ANO5_uc001mqj.2_Silent_p.T751T	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	752	Helical; (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TTGCATTTACGTCAGACATCA	0.363												
CSTF3	1479	broad.mit.edu	37	11	33106750	33106750	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:33106750T>C	uc001muh.2	-	21	2203	c.2037A>G	c.(2035-2037)GTA>GTG	p.V679V	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	cleavage stimulation factor subunit 3 isoform 1	679					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding				0						CCTTGGTGAGTACTGCATTAC	0.512												
HIPK3	10114	broad.mit.edu	37	11	33369417	33369417	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:33369417A>G	uc001mul.1	+	11	2434	c.2164A>G	c.(2164-2166)AAT>GAT	p.N722D	HIPK3_uc001mum.1_Missense_Mutation_p.N722D|HIPK3_uc009yjv.1_Missense_Mutation_p.N722D	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	722					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TTCATGCAGCAATCATTATAA	0.408												
PRDM11	56981	broad.mit.edu	37	11	45204517	45204517	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45204517C>T	uc001myo.2	+	5	680	c.431C>T	c.(430-432)GCG>GTG	p.A144V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	144										upper_aerodigestive_tract(1)	1						GACCGGGCGGCGCTCACCATC	0.612												
CHST1	8534	broad.mit.edu	37	11	45671832	45671832	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45671832G>A	uc001mys.1	-	4	1313	c.642C>T	c.(640-642)AAC>AAT	p.N214N		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	214	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CGCGCAGGTCGTTCACCTCGG	0.677												
GYLTL1B	120071	broad.mit.edu	37	11	45948971	45948971	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45948971C>A	uc001nbv.1	+	11	1542	c.1431C>A	c.(1429-1431)GCC>GCA	p.A477A	GYLTL1B_uc001nbw.1_Silent_p.A446A|GYLTL1B_uc001nbx.1_Silent_p.A477A|GYLTL1B_uc001nby.1_Silent_p.A160A|GYLTL1B_uc001nbz.1_5'Flank	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	477	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)		TCGTCGAGGCCTCACCAGTGC	0.627												
PHF21A	51317	broad.mit.edu	37	11	45955742	45955742	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:45955742C>T	uc001ncc.3	-	18	2444	c.1820G>A	c.(1819-1821)CGG>CAG	p.R607Q	PHF21A_uc001ncb.3_Missense_Mutation_p.R561Q|PHF21A_uc009ykx.2_Missense_Mutation_p.R561Q|PHF21A_uc001nca.1_3'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	607	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						CTCCTTCTGCCGGGCCAGGAT	0.552												
DGKZ	8525	broad.mit.edu	37	11	46395999	46395999	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:46395999G>A	uc001ncn.1	+	17	2145	c.2020G>A	c.(2020-2022)GCC>ACC	p.A674T	DGKZ_uc001nch.1_Missense_Mutation_p.A502T|DGKZ_uc010rgq.1_Missense_Mutation_p.A429T|DGKZ_uc001ncj.1_Missense_Mutation_p.A452T|DGKZ_uc010rgr.1_Missense_Mutation_p.A451T|DGKZ_uc001nck.1_Missense_Mutation_p.A264T|DGKZ_uc001ncl.2_Missense_Mutation_p.A486T|DGKZ_uc001ncm.2_Missense_Mutation_p.A485T|DGKZ_uc009yky.1_Missense_Mutation_p.A486T|DGKZ_uc010rgs.1_Missense_Mutation_p.A463T	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	674					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GATGTTCTACGCCGGGGTGAG	0.652												
MYBPC3	4607	broad.mit.edu	37	11	47357511	47357511	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:47357511G>A	uc001nfa.3	-	25	2709	c.2654C>T	c.(2653-2655)ACG>ATG	p.T885M	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	884	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GAGGGAGACCGTGGTGTCAGA	0.672												
MYBPC3	4607	broad.mit.edu	37	11	47364465	47364465	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:47364465C>T	uc001nfa.3	-	15	1428	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	457	Ig-like C2-type 3.		R -> H (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		CTCCAAGGGGCGCGTGATGAG	0.622												
PTPRJ	5795	broad.mit.edu	37	11	48188871	48188871	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:48188871C>T	uc001ngp.3	+	25	4326	c.3971C>T	c.(3970-3972)GCG>GTG	p.A1324V		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1324	Cytoplasmic (Potential).				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8						GAAAACCTTGCGCCCGTGACC	0.443												
OR5M8	219484	broad.mit.edu	37	11	56258299	56258299	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:56258299A>G	uc001nix.1	-	1	548	c.548T>C	c.(547-549)CTG>CCG	p.L183P		NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	Esophageal squamous(21;0.00352)					CAGCTTAATCAGTGGTGGGTC	0.463												
SMTNL1	219537	broad.mit.edu	37	11	57313372	57313372	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:57313372C>T	uc009ymh.1	+	5	990	c.990C>T	c.(988-990)GAC>GAT	p.D330D		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	312										ovary(1)	1						CACCCAGCGACGTGCCCCAGA	0.657												
ZDHHC5	25921	broad.mit.edu	37	11	57466520	57466520	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:57466520C>T	uc001nkx.1	+	11	2868	c.1612C>T	c.(1612-1614)CGC>TGC	p.R538C	ZDHHC5_uc001nky.1_Missense_Mutation_p.R485C|ZDHHC5_uc001nkz.1_Missense_Mutation_p.R352C	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	538						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						CAATCTGTCGCGCCACATTGT	0.627												
ZDHHC5	25921	broad.mit.edu	37	11	57466723	57466723	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:57466723C>T	uc001nkx.1	+	11	3071	c.1815C>T	c.(1813-1815)GTC>GTT	p.V605V	ZDHHC5_uc001nky.1_Silent_p.V552V|ZDHHC5_uc001nkz.1_Silent_p.V419V	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC domain containing 5	605						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)	1						GCCCAGCTGTCCCCCGTTTTG	0.597												
OR5B17	219965	broad.mit.edu	37	11	58125979	58125979	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:58125979A>G	uc010rke.1	-	1	564	c.564T>C	c.(562-564)TCT>TCC	p.S188S		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGTGTTTCTCAGAGCAGGTCA	0.358												
OR5B17	219965	broad.mit.edu	37	11	58126399	58126399	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:58126399C>A	uc010rke.1	-	1	144	c.144G>T	c.(142-144)CTG>CTT	p.L48L		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	48	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGAGTCCAGCAGGATTAATA	0.458												
TMEM132A	54972	broad.mit.edu	37	11	60703568	60703568	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:60703568G>A	uc001nqj.2	+	11	2454	c.2261G>A	c.(2260-2262)CGT>CAT	p.R754H	TMEM132A_uc001nqi.2_Missense_Mutation_p.R755H|TMEM132A_uc001nqm.2_Translation_Start_Site	NM_178031	NP_821174	Q24JP5	T132A_HUMAN	transmembrane protein 132A isoform b	754	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				skin(1)	1						GGCCGCCACCGTGTGCCTCTG	0.751												
C11orf10	746	broad.mit.edu	37	11	61557966	61557966	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:61557966C>T	uc001nsf.2	-	2	167	c.112G>A	c.(112-114)GTT>ATT	p.V38I	FEN1_uc001nsg.2_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	hypothetical protein LOC746	38						integral to membrane				breast(1)	1						AAAGGATACACGAAGAACCAG	0.542												
ASRGL1	80150	broad.mit.edu	37	11	62159723	62159723	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:62159723T>A	uc001nte.3	+	7	1178	c.894T>A	c.(892-894)GAT>GAA	p.D298E	ASRGL1_uc001ntf.3_Missense_Mutation_p.D298E|ASRGL1_uc001ntg.3_Missense_Mutation_p.D170E	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	asparaginase-like 1	298					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity				0					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TCGGAATTGATCCTGACGATA	0.527											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AHNAK	79026	broad.mit.edu	37	11	62298080	62298080	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:62298080T>C	uc001ntl.2	-	5	4109	c.3809A>G	c.(3808-3810)GAG>GGG	p.E1270G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1270					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTCTCGGCCCTCTCCTTTGAA	0.542												
POLR2G	5436	broad.mit.edu	37	11	62533156	62533156	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:62533156G>A	uc001nva.2	+	6	541	c.431G>A	c.(430-432)CGC>CAC	p.R144H	POLR2G_uc001nvb.2_RNA	NM_002696	NP_002687	P62487	RPB7_HUMAN	DNA directed RNA polymerase II polypeptide G	144					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding				0						GATGAGATCCGCTTAAAGATT	0.453												
OTUB1	55611	broad.mit.edu	37	11	63764564	63764564	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:63764564G>A	uc001nyf.1	+	6	1070	c.466G>A	c.(466-468)GCC>ACC	p.A156T	OTUB1_uc001nyg.1_Missense_Mutation_p.A199T|OTUB1_uc010rmz.1_Missense_Mutation_p.A193T|OTUB1_uc010rna.1_Missense_Mutation_p.A165T|OTUB1_uc009ypa.2_Missense_Mutation_p.A55T|OTUB1_uc009ypb.1_Missense_Mutation_p.A126T	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	otubain 1	156	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)	1						GACCTCTGTCGCCGACCTGCT	0.607												
PPP1R14B	26472	broad.mit.edu	37	11	64012400	64012400	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64012400A>G	uc001nza.2	-	3	643	c.375_splice	c.e3+1	p.E125_splice		NM_138689	NP_619634	Q96C90	PP14B_HUMAN	protein phosphatase 1 regulatory subunit 14B						regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity				0						GAAATCTCTTACCTCTGTGGG	0.597												
NRXN2	9379	broad.mit.edu	37	11	64436033	64436033	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64436033G>A	uc001oar.2	-	9	1680	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	NRXN2_uc001oas.2_Missense_Mutation_p.T383M|NRXN2_uc001oaq.2_Missense_Mutation_p.T81M	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						ATCCTCCTGCGTGTAGCCTGT	0.582												
RASGRP2	10235	broad.mit.edu	37	11	64502632	64502632	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64502632C>T	uc009ypu.2	-	12	1591	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H	RASGRP2_uc001oat.2_Missense_Mutation_p.R357H|RASGRP2_uc001oau.2_Missense_Mutation_p.R310H|RASGRP2_uc009ypv.2_Missense_Mutation_p.R455H|RASGRP2_uc009ypw.2_Missense_Mutation_p.R455H	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	455	EF-hand 2.|EF-hand 1.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						GAAGTTCCCACGGATGATCTG	0.537												
CDC42BPG	55561	broad.mit.edu	37	11	64602606	64602606	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64602606T>G	uc001obs.3	-	17	1973	c.1973A>C	c.(1972-1974)CAG>CCG	p.Q658P		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	658	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CTCCTGCTCCTGGGCCAGCTC	0.692												
EHD1	10938	broad.mit.edu	37	11	64627709	64627709	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64627709G>A	uc001obu.1	-	3	857	c.602C>T	c.(601-603)TCG>TTG	p.S201L	EHD1_uc001obv.1_Missense_Mutation_p.S201L|EHD1_uc010rnq.1_Missense_Mutation_p.S215L	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	201	Potential.				blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0						GATCACTTCCGAGAACTCATC	0.582												
ATG2A	23130	broad.mit.edu	37	11	64675237	64675237	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64675237G>A	uc001obx.2	-	17	2605	c.2490C>T	c.(2488-2490)TAC>TAT	p.Y830Y		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	830							protein binding			ovary(1)|central_nervous_system(1)	2						AGATGCTCTCGTAGACCTCCT	0.632												
C11orf2	738	broad.mit.edu	37	11	64875963	64875963	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64875963C>T	uc001ocr.1	+	5	1060	c.1020C>T	c.(1018-1020)TTC>TTT	p.F340F	C11orf2_uc001ocs.1_Silent_p.F216F	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	340					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						TGGCGGCCTTCGCCCGGCAGC	0.716												
CAPN1	823	broad.mit.edu	37	11	64953462	64953462	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:64953462C>T	uc009yqd.1	+	5	642	c.531C>T	c.(529-531)TTC>TTT	p.F177F	CAPN1_uc001odf.1_Silent_p.F177F|CAPN1_uc001odg.1_Silent_p.F177F|CAPN1_uc010roa.1_5'UTR	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	177	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		AGCTAGTGTTCGTGCACTCTG	0.617												
PCNXL3	399909	broad.mit.edu	37	11	65386029	65386029	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65386029G>A	uc001oey.2	+	6	1196	c.1196G>A	c.(1195-1197)CGA>CAA	p.R399Q		NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	399						integral to membrane					0						CCACCCCTGCGAAGACACTCT	0.657												
PCNXL3	399909	broad.mit.edu	37	11	65403107	65403107	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65403107G>A	uc001oey.2	+	32	5292	c.5292G>A	c.(5290-5292)GCG>GCA	p.A1764A	PCNXL3_uc001oez.2_Silent_p.A651A	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1764						integral to membrane					0						CCAAGCAGGCGCTTCGCAACA	0.672												
SNX32	254122	broad.mit.edu	37	11	65620191	65620191	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65620191C>T	uc001ofr.2	+	11	1130	c.1003C>T	c.(1003-1005)CGG>TGG	p.R335W		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	sorting nexin 6B	335	Potential.				cell communication|protein transport		phosphatidylinositol binding				0				READ - Rectum adenocarcinoma(159;0.171)		CCGGGAGGTGCGGCCCGCCGA	0.697												
CTSW	1521	broad.mit.edu	37	11	65648955	65648955	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65648955G>A	uc001ogc.1	+	3	292	c.250G>A	c.(250-252)GCT>ACT	p.A84T	CTSW_uc001ogb.1_Missense_Mutation_p.A84T	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	84					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		CTTGGGCACAGCTGAGTTTGG	0.582												
RIN1	9610	broad.mit.edu	37	11	66100001	66100001	+	Missense_Mutation	SNP	C	C	T	rs11227461	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66100001C>T	uc001ohn.1	-	10	2225	c.2098G>A	c.(2098-2100)GTC>ATC	p.V700I	RIN1_uc010roy.1_Missense_Mutation_p.V331I|RIN1_uc009yrd.1_Missense_Mutation_p.V393I|RIN1_uc010roz.1_Missense_Mutation_p.V595I|RIN1_uc010rpa.1_Missense_Mutation_p.V534I	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	700	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3						CGGCGGTAGACGAGGTAGCCA	0.672												
PELI3	246330	broad.mit.edu	37	11	66243212	66243212	+	Silent	SNP	G	G	A	rs141532058	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66243212G>A	uc001oic.3	+	8	1148	c.984G>A	c.(982-984)GCG>GCA	p.A328A	PELI3_uc001oid.3_Silent_p.A304A|PELI3_uc001oie.3_Silent_p.A179A	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	328						cytosol	protein binding			ovary(1)	1						CAAATGCAGCGCGGCCCCAGT	0.711												
DPP3	10072	broad.mit.edu	37	11	66260192	66260192	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66260192G>A	uc001oig.1	+	10	1056	c.994G>A	c.(994-996)GTA>ATA	p.V332I	DPP3_uc001oif.1_Missense_Mutation_p.V332I|DPP3_uc010rpe.1_Missense_Mutation_p.V321I	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	332					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2						TGCAGGTTTCGTAGCTGTGGT	0.517												
CCS	9973	broad.mit.edu	37	11	66372815	66372815	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66372815C>T	uc001oir.2	+	6	538	c.495C>T	c.(493-495)CGC>CGT	p.R165R	CCS_uc001ois.2_RNA	NM_005125	NP_005116	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	165	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding				0						TCCAGCACCGCGGAGACCTGG	0.557												
SPTBN2	6712	broad.mit.edu	37	11	66460165	66460165	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66460165C>T	uc001ojd.2	-	25	5104	c.5032G>A	c.(5032-5034)GGC>AGC	p.G1678S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1678	Spectrin 13.				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						TCCTTCAGGCCGGCATACAGC	0.637												
SPTBN2	6712	broad.mit.edu	37	11	66473194	66473194	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66473194C>T	uc001ojd.2	-	13	1840	c.1768G>A	c.(1768-1770)GTC>ATC	p.V590I		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	590	Spectrin 3.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GAGGCGCTGACGGCCCGCACC	0.657												
PC	5091	broad.mit.edu	37	11	66619987	66619987	+	Missense_Mutation	SNP	C	C	T	rs119103242		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66619987C>T	uc001ojn.1	-	13	1797	c.1748G>A	c.(1747-1749)CGC>CAC	p.R583H	PC_uc001ojo.1_Missense_Mutation_p.R583H|PC_uc001ojp.1_Missense_Mutation_p.R583H|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	583	Carboxyltransferase.		R -> L (in PC deficiency).		gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCGTGGGTGCGCACACGAGT	0.617												
SYT12	91683	broad.mit.edu	37	11	66816221	66816221	+	Missense_Mutation	SNP	G	G	A	rs78683901	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:66816221G>A	uc009yrl.2	+	8	1489	c.1259G>A	c.(1258-1260)CGA>CAA	p.R420Q	SYT12_uc001oju.2_Missense_Mutation_p.R420Q	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	420	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1						GCTGTCCGGCGAAACTAGCAA	0.632												
PTPRCAP	5790	broad.mit.edu	37	11	67203412	67203412	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67203412G>A	uc001oli.1	-	2	476	c.413C>T	c.(412-414)TCC>TTC	p.S138F		NM_005608	NP_005599	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type,	138					defense response	integral to membrane|plasma membrane					0			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CTCTGGGCTGGACGCCTCTCC	0.677												
CABP4	57010	broad.mit.edu	37	11	67223140	67223140	+	Silent	SNP	C	C	T	rs147329388		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67223140C>T	uc001olo.2	+	1	323	c.246C>T	c.(244-246)GGC>GGT	p.G82G	GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	calcium binding protein 4	82					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCGGCGGGCGCACCCCCTG	0.701												
SUV420H1	51111	broad.mit.edu	37	11	67926241	67926241	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67926241A>G	uc001onm.1	-	11	1828	c.1572T>C	c.(1570-1572)GGT>GGC	p.G524G	SUV420H1_uc009yse.1_Silent_p.G110G|SUV420H1_uc001onn.1_Silent_p.G352G|SUV420H1_uc009ysf.2_Silent_p.G284G	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 isoform	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(2)|kidney(1)	3						GCGAATGAGCACCTCTCACAG	0.557												
LRP5	4041	broad.mit.edu	37	11	68125314	68125314	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:68125314C>T	uc001ont.2	+	3	760	c.685C>T	c.(685-687)CGG>TGG	p.R229W	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	229	Beta-propeller 1.|LDL-receptor class B 4.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						CGGCTCGTTCCGGTAGGTACC	0.587												
IGHMBP2	3508	broad.mit.edu	37	11	68701933	68701933	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:68701933C>T	uc001ook.1	+	11	1641	c.1539C>T	c.(1537-1539)GGC>GGT	p.G513G	IGHMBP2_uc001ool.1_Silent_p.G137G|IGHMBP2_uc001oom.1_Silent_p.G91G	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	513					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCCTCCAGGCGAAGTCCGCC	0.582												
SHANK2	22941	broad.mit.edu	37	11	70338532	70338532	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:70338532G>A	uc001oqc.2	-	18	2425	c.2347C>T	c.(2347-2349)CGC>TGC	p.R783C	SHANK2_uc010rqn.1_Missense_Mutation_p.R195C|SHANK2_uc001opz.2_Missense_Mutation_p.R188C|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.R185C|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_5'UTR	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	404					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)			TCAGCAGCGCGGGAGGGCTTG	0.617												
C11orf51	25906	broad.mit.edu	37	11	71822259	71822259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:71822259G>A	uc001orw.2	-	3	286	c.64C>T	c.(64-66)CGA>TGA	p.R22*	C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Nonsense_Mutation_p.R22*	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906	22						intracellular					0						ACACAGGGTCGATCCAGATTA	0.542												
ATG16L2	89849	broad.mit.edu	37	11	72540364	72540364	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:72540364G>A	uc001otd.2	+	18	1829	c.1789G>A	c.(1789-1791)GTG>ATG	p.V597M	ATG16L2_uc001ote.2_Missense_Mutation_p.V491M|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.V352M|ATG16L2_uc001otg.2_Missense_Mutation_p.V331M|ATG16L2_uc009ytk.2_Missense_Mutation_p.V318M	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	ATG16 autophagy related 16-like 2	597	WD 7.				autophagy|protein transport	cytoplasm	protein binding				0			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			cGTCAACGCCGTGGCCTGGTG	0.368												
SLCO2B1	11309	broad.mit.edu	37	11	74914466	74914466	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:74914466G>A	uc001owb.2	+	13	2330	c.1943G>A	c.(1942-1944)CGA>CAA	p.R648Q	SLCO2B1_uc010rrr.1_Missense_Mutation_p.R504Q|SLCO2B1_uc010rrs.1_Missense_Mutation_p.R532Q|SLCO2B1_uc001owc.2_Missense_Mutation_p.R421Q|SLCO2B1_uc001owd.2_Missense_Mutation_p.R626Q	NM_007256	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family,	648	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			ovary(1)|breast(1)	2					Ergoloid mesylate(DB01049)	GACCTGCTCCGAAACCGGTGA	0.577												
DGAT2	84649	broad.mit.edu	37	11	75501723	75501723	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:75501723T>C	uc001oxa.2	+	4	635	c.376T>C	c.(376-378)TGG>CGG	p.W126R	DGAT2_uc001oxb.2_Missense_Mutation_p.W83R	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	126	Cytoplasmic (Potential).				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity				0	Ovarian(111;0.103)					GAGGTCACAGTGGGTCCGAAA	0.537												
B3GNT6	192134	broad.mit.edu	37	11	76751075	76751075	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:76751075G>A	uc001oxw.2	+	2	568	c.480G>A	c.(478-480)CCG>CCA	p.P160P		NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN	UDP-GlcNAc:betaGal	160	Lumenal (Potential).				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity				0						TGGGCACCCCGGGCCCCGAGG	0.741												
INTS4	92105	broad.mit.edu	37	11	77667073	77667073	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:77667073C>T	uc001oys.2	-	8	861	c.833G>A	c.(832-834)CGC>CAC	p.R278H	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Missense_Mutation_p.R278H	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	278	HEAT 5.				snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATCAACTAAGCGTATTTCTTC	0.373												
USP35	57558	broad.mit.edu	37	11	77920763	77920763	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:77920763T>C	uc009yva.1	+	10	2108	c.1862T>C	c.(1861-1863)ATC>ACC	p.I621T	USP35_uc001oze.2_Missense_Mutation_p.I377T|USP35_uc001ozc.2_Missense_Mutation_p.I189T|USP35_uc010rsp.1_Missense_Mutation_p.I53T|USP35_uc001ozd.2_Missense_Mutation_p.I232T|USP35_uc001ozf.2_Missense_Mutation_p.I352T	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	621					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACAGAAGACATCACAGCCCGG	0.677												
ODZ4	26011	broad.mit.edu	37	11	78369635	78369635	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:78369635C>A	uc001ozl.3	-	34	8241	c.7778G>T	c.(7777-7779)AGG>ATG	p.R2593M	ODZ4_uc001ozk.3_Missense_Mutation_p.R818M|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2593	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GGCAGCAACCCTTCGCCCATC	0.527												
ODZ4	26011	broad.mit.edu	37	11	78413245	78413245	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:78413245G>A	uc001ozl.3	-	28	4876	c.4413C>T	c.(4411-4413)ACC>ACT	p.T1471T	ODZ4_uc009yvb.1_Silent_p.T55T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1471	Extracellular (Potential).			T -> I (in Ref. 4; CAE45850).	signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						CAGCCAAAGCGGTGGCTGACT	0.557												
PCF11	51585	broad.mit.edu	37	11	82878523	82878523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:82878523C>T	uc001ozx.3	+	7	2413	c.2068C>T	c.(2068-2070)CGA>TGA	p.R690*	PCF11_uc010rsu.1_Nonsense_Mutation_p.R690*	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	690					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						GCATCAAATTCGACAGCTATT	0.353												
DLG2	1740	broad.mit.edu	37	11	84245742	84245742	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:84245742A>G	uc001paj.2	-	2	378	c.75T>C	c.(73-75)CAT>CAC	p.H25H	DLG2_uc010rsz.1_Silent_p.H25H|DLG2_uc010rta.1_Silent_p.H25H|DLG2_uc001pak.2_Silent_p.H130H|DLG2_uc001pal.1_Silent_p.H25H	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	25						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGGAATGATCATGTGGAGCGT	0.388												
CCDC89	220388	broad.mit.edu	37	11	85396954	85396954	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:85396954A>G	uc001pau.1	-	1	367	c.220T>C	c.(220-222)TCC>CCC	p.S74P		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	74	Potential.					cytoplasm|nucleus					0		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATGAGCTGGGACTGCTCTTCA	0.587												
FAT3	120114	broad.mit.edu	37	11	92590502	92590502	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:92590502G>A	uc001pdj.3	+	19	11505	c.11488G>A	c.(11488-11490)GGA>AGA	p.G3830R	FAT3_uc001pdi.3_Missense_Mutation_p.G270R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3830	EGF-like 1.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGAAGCTCGGAGAGTGCTC	0.517										TCGA Ovarian(4;0.039)		
FAM76B	143684	broad.mit.edu	37	11	95513059	95513059	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:95513059C>T	uc001pfn.2	-	6	907	c.595G>A	c.(595-597)GGA>AGA	p.G199R	FAM76B_uc001pfm.2_RNA	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	hypothetical protein LOC143684	199											0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCACAGTCCCTGCTCTTCT	0.279												
KIAA1377	57562	broad.mit.edu	37	11	101849177	101849177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:101849177G>A	uc001pgm.2	+	7	3215	c.2945G>A	c.(2944-2946)AGT>AAT	p.S982N	KIAA1377_uc001pgn.2_Missense_Mutation_p.S938N|KIAA1377_uc010run.1_Missense_Mutation_p.S783N	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	982							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAGAAGTACAGTGAGCAAATT	0.343												
MMP12	4321	broad.mit.edu	37	11	102738713	102738713	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:102738713G>T	uc001phk.2	-	6	758	c.713C>A	c.(712-714)CCC>CAC	p.P238H		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	238					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTTGTAGGTGGGGAACATTAC	0.448												
PDGFD	80310	broad.mit.edu	37	11	103780444	103780444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:103780444C>T	uc001phq.2	-	7	1463	c.1091G>A	c.(1090-1092)TGC>TAC	p.C364Y	PDGFD_uc001php.2_Missense_Mutation_p.C358Y	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	364					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCTTGAGCTGCAGATACAATC	0.453												
RAB39	54734	broad.mit.edu	37	11	107799501	107799501	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107799501G>A	uc001pjt.2	+	1	225	c.207G>A	c.(205-207)ACG>ACA	p.T69T		NM_017516	NP_059986	Q14964	RB39A_HUMAN	RAB39, member RAS oncogene family	69	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0				BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)		TCTGGGACACGGCGGGACAGG	0.736												
CUL5	8065	broad.mit.edu	37	11	107968391	107968391	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107968391G>A	uc001pjv.2	+	17	2601	c.1934G>A	c.(1933-1935)CGG>CAG	p.R645Q	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	645					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			ovary(1)	1		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AAACTCAAACGGCAAGTTTTG	0.373												
DDX10	1662	broad.mit.edu	37	11	108594061	108594061	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:108594061G>A	uc001pkm.2	+	13	1902	c.1837G>A	c.(1837-1839)GCA>ACA	p.A613T	DDX10_uc001pkl.1_Missense_Mutation_p.A613T	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	613							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(1)		breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CACCAGTGAGGCACAGAAGAT	0.363			T	NUP98	AML*							
DRD2	1813	broad.mit.edu	37	11	113283448	113283448	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:113283448G>A	uc001pnz.2	-	6	1289	c.968C>T	c.(967-969)GCC>GTC	p.A323V	DRD2_uc010rwv.1_Missense_Mutation_p.A322V|DRD2_uc001poa.3_Missense_Mutation_p.A323V|DRD2_uc001pob.3_Missense_Mutation_p.A294V	NM_000795	NP_000786	P14416	DRD2_HUMAN	dopamine receptor D2 isoform long	323	Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			pancreas(1)|skin(1)	2		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CTCTGGTTTGGCGGGGCTGTC	0.612												
USP28	57646	broad.mit.edu	37	11	113679043	113679043	+	Missense_Mutation	SNP	C	C	T	rs143699311		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:113679043C>T	uc001poh.2	-	18	2314	c.2281G>A	c.(2281-2283)GGT>AGT	p.G761S	USP28_uc001pog.2_Missense_Mutation_p.G469S|USP28_uc010rwy.1_Missense_Mutation_p.G636S|USP28_uc001poi.2_Missense_Mutation_p.G116S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	ubiquitin specific protease 28	761					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCTTCTACACCGCTCTTCTCA	0.522												
BUD13	84811	broad.mit.edu	37	11	116619250	116619250	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:116619250C>T	uc001ppn.2	-	10	1842	c.1808G>A	c.(1807-1809)AGC>AAC	p.S603N	BUD13_uc001ppo.2_Missense_Mutation_p.S469N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	603										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)		TGCCTTCTTGCTGGCAAGCCT	0.488												
SIK3	23387	broad.mit.edu	37	11	116729395	116729395	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:116729395G>A	uc001ppy.2	-	20	2504	c.2468C>T	c.(2467-2469)TCC>TTC	p.S823F	SIK3_uc001ppz.2_Intron|SIK3_uc001pqa.2_Intron|SIK3_uc001ppw.2_Intron|SIK3_uc001ppx.2_Intron|SIK3_uc001pqb.2_Missense_Mutation_p.S126F	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	823	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						GTTAGCAGGGGAGAACCGATT	0.547												
CEP164	22897	broad.mit.edu	37	11	117209321	117209321	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117209321C>T	uc001prc.2	+	3	166	c.19C>T	c.(19-21)CGC>TGC	p.R7C	CEP164_uc001prb.2_Missense_Mutation_p.R7C|CEP164_uc001prd.2_Missense_Mutation_p.R7C|CEP164_uc010rxj.1_Intron|CEP164_uc010rxk.1_Missense_Mutation_p.R7C	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	7	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACGACCCCTCCGCATAGGAGA	0.488												
CEP164	22897	broad.mit.edu	37	11	117232594	117232594	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117232594G>A	uc001prc.2	+	6	584	c.437G>A	c.(436-438)GGC>GAC	p.G146D	CEP164_uc001prb.2_Missense_Mutation_p.G146D|CEP164_uc010rxk.1_Missense_Mutation_p.G146D|CEP164_uc001prf.2_RNA|CEP164_uc009yzp.1_5'Flank	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	146	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCTCTTGGGGGCCTGGCTCCT	0.542												
DSCAML1	57453	broad.mit.edu	37	11	117308780	117308780	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117308780C>T	uc001prh.1	-	25	4445	c.4443G>A	c.(4441-4443)TCG>TCA	p.S1481S		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1421	Fibronectin type-III 5.|Extracellular (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGTTGTCCACCGAGTACTGTA	0.612												
DSCAML1	57453	broad.mit.edu	37	11	117335865	117335865	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:117335865G>A	uc001prh.1	-	17	3240	c.3238C>T	c.(3238-3240)CGG>TGG	p.R1080W		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1020	Extracellular (Potential).|Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGCCCCGGATGACACCG	0.517												
MLL	4297	broad.mit.edu	37	11	118352503	118352503	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118352503C>T	uc001pta.2	+	7	3731	c.3708C>T	c.(3706-3708)AAC>AAT	p.N1236N	MLL_uc001ptb.2_Silent_p.N1236N|MLL_uc001pte.1_RNA|MLL_uc009zab.1_Translation_Start_Site	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1236					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTGTGAAGAACGTGGTGGACT	0.463			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
PHLDB1	23187	broad.mit.edu	37	11	118499338	118499338	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118499338G>A	uc001ptr.1	+	7	2152	c.1799G>A	c.(1798-1800)CGG>CAG	p.R600Q	PHLDB1_uc001pts.2_Missense_Mutation_p.R600Q|PHLDB1_uc001ptt.2_Missense_Mutation_p.R600Q|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Missense_Mutation_p.R400Q|PHLDB1_uc001ptw.1_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	600											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGCCAAGAGCGGCTCCGGGAG	0.627												
VPS11	55823	broad.mit.edu	37	11	118948655	118948655	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118948655G>A	uc010ryx.1	+	11	1682	c.1640G>A	c.(1639-1641)CGC>CAC	p.R547H	VPS11_uc010ryy.1_Missense_Mutation_p.R393H	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	547	Clathrin.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AACATGAAGCGCTACGGCAAG	0.502												
ETS1	2113	broad.mit.edu	37	11	128350145	128350145	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:128350145C>T	uc010sbs.1	-	6	1248	c.932G>A	c.(931-933)CGT>CAT	p.R311H	ETS1_uc001qej.2_Missense_Mutation_p.R355H|ETS1_uc009zch.2_Missense_Mutation_p.R95H|ETS1_uc009zcg.2_Intron	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	311					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGGTCAGCACGGTCCCGCAC	0.597												
FLI1	2313	broad.mit.edu	37	11	128680442	128680442	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:128680442C>T	uc010sbu.1	+	9	1259	c.918C>T	c.(916-918)AAC>AAT	p.N306N	FLI1_uc010sbt.1_Silent_p.N113N|FLI1_uc010sbv.1_Silent_p.N273N|FLI1_uc009zci.2_Silent_p.N240N	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	306	ETS.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGGGGACCAACGGGGAGTTCA	0.632			T	EWSR1	Ewing sarcoma							
ARHGAP32	9743	broad.mit.edu	37	11	128993399	128993399	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:128993399G>A	uc009zcp.2	-	4	344	c.344C>T	c.(343-345)CCG>CTG	p.P115L	ARHGAP32_uc009zcq.1_Missense_Mutation_p.P75L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	115					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						AGCCATCTTCGGAAAGTGACC	0.338												
VPS26B	112936	broad.mit.edu	37	11	134109913	134109913	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:134109913C>T	uc001qhe.2	+	3	865	c.409C>T	c.(409-411)CGC>TGC	p.R137C		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B	137					protein transport|vacuolar transport	cytosol|retromer complex					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CATCAGCCGCCGCCTCAATGA	0.463												
ACAD8	27034	broad.mit.edu	37	11	134126526	134126526	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:134126526C>T	uc001qhk.2	+	2	255	c.194C>T	c.(193-195)GCA>GTA	p.A65V	ACAD8_uc009zdc.2_Nonsense_Mutation_p.Q24*|ACAD8_uc010sco.1_Nonsense_Mutation_p.Q24*|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Intron|ACAD8_uc001qhl.2_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.A27V|ACAD8_uc009zde.1_5'Flank	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	65					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CCAAATATGGCAGAGTGGGAC	0.448												
WNK1	65125	broad.mit.edu	37	12	995198	995198	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:995198C>T	uc001qio.3	+	19	5735	c.5228C>T	c.(5227-5229)TCA>TTA	p.S1743L	WNK1_uc001qip.3_Missense_Mutation_p.S1496L|WNK1_uc001qir.3_Missense_Mutation_p.S916L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1743					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACTACTACATCAGGAGTGAAA	0.418												
WNT5B	81029	broad.mit.edu	37	12	1748963	1748963	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:1748963C>T	uc009zdq.2	+	4	684	c.442C>T	c.(442-444)CGG>TGG	p.R148W	WNT5B_uc001qjj.2_Missense_Mutation_p.R148W|WNT5B_uc001qjk.2_Missense_Mutation_p.R148W|WNT5B_uc001qjl.2_Missense_Mutation_p.R148W	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family,	148					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CCGGACGGCGCGGCCCAAGGA	0.731												
CACNA1C	775	broad.mit.edu	37	12	2795387	2795387	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:2795387A>G	uc009zdu.1	+	48	6298	c.5985A>G	c.(5983-5985)GGA>GGG	p.G1995G	CACNA1C_uc009zdv.1_Silent_p.G1909G|CACNA1C_uc001qkb.2_Silent_p.G1912G|CACNA1C_uc001qkc.2_Silent_p.G1931G|CACNA1C_uc001qke.2_Silent_p.G1901G|CACNA1C_uc001qkf.2_Silent_p.G1920G|CACNA1C_uc001qjz.2_Silent_p.G1912G|CACNA1C_uc001qkd.2_Silent_p.G1931G|CACNA1C_uc001qkg.2_Silent_p.G1918G|CACNA1C_uc009zdw.1_Silent_p.G1953G|CACNA1C_uc001qkh.2_Silent_p.G1920G|CACNA1C_uc001qkl.2_Silent_p.G1960G|CACNA1C_uc001qkn.2_Silent_p.G1912G|CACNA1C_uc001qko.2_Silent_p.G1932G|CACNA1C_uc001qkp.2_Silent_p.G1912G|CACNA1C_uc001qkr.2_Silent_p.G1929G|CACNA1C_uc001qku.2_Silent_p.G1947G|CACNA1C_uc001qkq.2_Silent_p.G1940G|CACNA1C_uc001qks.2_Silent_p.G1912G|CACNA1C_uc001qkt.2_Silent_p.G1931G|CACNA1C_uc001qki.1_Silent_p.G1719G|CACNA1C_uc001qkj.1_Silent_p.G1683G|CACNA1C_uc001qkk.1_Silent_p.G1648G|CACNA1C_uc001qkm.1_Silent_p.G1708G|CACNA1C_uc010sea.1_Silent_p.G603G|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.G230G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	1995	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)	ACCGAGGGGGAGACATCTCTC	0.572												
TULP3	7289	broad.mit.edu	37	12	3043651	3043651	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:3043651G>A	uc010seh.1	+	8	929	c.848G>A	c.(847-849)CGT>CAT	p.R283H	TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_Missense_Mutation_p.R10H|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.R283H|TULP3_uc010sei.1_Missense_Mutation_p.R140H	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	283					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GTTTATGACCGTGGCATCTGC	0.522												
RAD51AP1	10635	broad.mit.edu	37	12	4665605	4665605	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:4665605A>G	uc001qmw.2	+	9	1015	c.859A>G	c.(859-861)AGG>GGG	p.R287G	RAD51AP1_uc001qmu.2_Missense_Mutation_p.R270G|RAD51AP1_uc001qmv.2_Missense_Mutation_p.R233G|RAD51AP1_uc010sep.1_Missense_Mutation_p.R152G|RAD51AP1_uc010seq.1_Missense_Mutation_p.R152G|RAD51AP1_uc009zeg.2_Intron	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	287					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGATACCACTAGGAAACCATT	0.433												
KCNA5	3741	broad.mit.edu	37	12	5153903	5153903	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:5153903C>T	uc001qni.2	+	1	819	c.590C>T	c.(589-591)GCG>GTG	p.A197V		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	197						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						GACGTGTTCGCGGACGAGATA	0.632												
ANO2	57101	broad.mit.edu	37	12	5848546	5848546	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:5848546G>C	uc001qnm.2	-	13	1431	c.1359C>G	c.(1357-1359)AAC>AAG	p.N453K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	458	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GCCTCTTCCAGTTTTCCAGGA	0.438												
C12orf53	196500	broad.mit.edu	37	12	6806777	6806777	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:6806777G>A	uc001qqf.1	-	3	275	c.199C>T	c.(199-201)CCA>TCA	p.P67S	C12orf53_uc001qqg.1_Missense_Mutation_p.P67S	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN	hypothetical protein LOC196500 precursor	67	Extracellular (Potential).					integral to membrane					0						GATCGGCTTGGTGGAGGTGCT	0.697												
ATN1	1822	broad.mit.edu	37	12	7044973	7044973	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:7044973T>C	uc001qrw.1	+	5	780	c.543T>C	c.(541-543)GCT>GCC	p.A181A	ATN1_uc001qrx.1_Silent_p.A181A|ATN1_uc001qry.1_Silent_p.A180A	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	181					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						AGCCAGAGGCTAGCTTTGAAC	0.637												
C1S	716	broad.mit.edu	37	12	7177814	7177814	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:7177814T>C	uc001qsj.2	+	15	2645	c.1926T>C	c.(1924-1926)AAT>AAC	p.N642N	C1S_uc001qsk.2_Silent_p.N642N|C1S_uc001qsl.2_Silent_p.N642N|C1S_uc009zfr.2_Silent_p.N475N|C1S_uc009zfs.2_RNA	NM_201442	NP_958850	P09871	C1S_HUMAN	complement component 1, s subcomponent	642	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			skin(1)	1					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGGATCCCAATGACAAGACCA	0.522												
FOXJ2	55810	broad.mit.edu	37	12	8200580	8200580	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:8200580C>T	uc001qtu.2	+	7	2005	c.920C>T	c.(919-921)CCG>CTG	p.P307L	FOXJ2_uc001qtt.1_Missense_Mutation_p.P307L	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	307					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				Kidney(36;0.0944)		cagcagcagcCGCCACAGCCA	0.473												
CLEC2B	9976	broad.mit.edu	37	12	10010142	10010142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:10010142C>T	uc001qwn.2	-	3	825	c.168G>A	c.(166-168)TGG>TGA	p.W56*		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	56	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0						TACTTGAATTCCAATCTCCTT	0.323												
TAS2R7	50837	broad.mit.edu	37	12	10954878	10954878	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:10954878A>G	uc001qyv.2	-	1	349	c.292T>C	c.(292-294)TGG>CGG	p.W98R		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	98	Helical; Name=3; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						GTTGCAAACCAGATACTTAAA	0.373												
GRIN2B	2904	broad.mit.edu	37	12	14018807	14018807	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:14018807G>A	uc001rbt.2	-	2	515	c.336C>T	c.(334-336)CTC>CTT	p.L112L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	112	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAATGAAATCGAGGATCTGGG	0.542												
ITPR2	3709	broad.mit.edu	37	12	26752212	26752212	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:26752212C>T	uc001rhg.2	-	30	4285	c.3868G>A	c.(3868-3870)GAG>AAG	p.E1290K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1290	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ACAACTCTCTCGCTAATTTCG	0.433												
PRICKLE1	144165	broad.mit.edu	37	12	42854129	42854129	+	Missense_Mutation	SNP	C	C	T	rs143947284	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:42854129C>T	uc010skv.1	-	8	2265	c.1978G>A	c.(1978-1980)GTC>ATC	p.V660I	PRICKLE1_uc001rnl.2_Missense_Mutation_p.V660I|PRICKLE1_uc010skw.1_Missense_Mutation_p.V660I|PRICKLE1_uc001rnm.2_Missense_Mutation_p.V660I|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	660	Arg/His-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AAATTGTAGACGCGTCTCCGA	0.507												
ARID2	196528	broad.mit.edu	37	12	46230679	46230679	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:46230679C>T	uc001ros.1	+	8	928	c.928C>T	c.(928-930)CGT>TGT	p.R310C	ARID2_uc001ror.2_Missense_Mutation_p.R310C|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	310					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGCAGCTAATCGTACCTGTCT	0.403												
PFKM	5213	broad.mit.edu	37	12	48534550	48534550	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:48534550G>A	uc001rrc.2	+	14	1407	c.1237G>A	c.(1237-1239)GCA>ACA	p.A413T	PFKM_uc001rra.1_Missense_Mutation_p.A98T|PFKM_uc001rrb.1_Missense_Mutation_p.A484T|PFKM_uc001rrd.2_Missense_Mutation_p.A98T|PFKM_uc001rre.1_Missense_Mutation_p.A413T|PFKM_uc001rrg.1_Missense_Mutation_p.A382T	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	413					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						GGCTCCGGCTGCAGGCATGAA	0.577												
CCDC65	85478	broad.mit.edu	37	12	49312541	49312541	+	Missense_Mutation	SNP	G	G	A	rs143876144	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:49312541G>A	uc001rso.2	+	6	1108	c.881G>A	c.(880-882)CGT>CAT	p.R294H		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	294										ovary(1)|skin(1)	2						CGGTATATCCGTAATGACAAG	0.463												
AQP6	363	broad.mit.edu	37	12	50367197	50367197	+	Missense_Mutation	SNP	G	G	A	rs116856189		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:50367197G>A	uc001rvr.1	+	1	578	c.241G>A	c.(241-243)GCC>ACC	p.A81T	AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	NM_001652	NP_001643	Q13520	AQP6_HUMAN	aquaporin 6	81	Cytoplasmic (Potential).				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity				0						CGGGGCCCACGCCAACCCCGC	0.672												
GPD1	2819	broad.mit.edu	37	12	50501398	50501398	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:50501398G>A	uc001rvz.2	+	6	694	c.661G>A	c.(661-663)GAC>AAC	p.D221N	GPD1_uc001rwa.2_Missense_Mutation_p.D198N	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	221					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	GGGCTTTGGCGACAACACCAA	0.582												
DAZAP2	9802	broad.mit.edu	37	12	51636173	51636173	+	Missense_Mutation	SNP	C	C	T	rs149578797		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:51636173C>T	uc010snd.1	+	4	545	c.361C>T	c.(361-363)CGT>TGT	p.R121C	DAZAP2_uc001ryb.2_Silent_p.N124N|DAZAP2_uc010snc.1_Silent_p.N64N|DAZAP2_uc010sne.1_Silent_p.N114N|DAZAP2_uc010snf.1_Intron	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN	DAZ associated protein 2 isoform c	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							WW domain binding				0						AGGGAGCCAACGTCCTCGTAA	0.557												
KRT1	3848	broad.mit.edu	37	12	53069361	53069361	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53069361G>A	uc001sau.1	-	9	1610	c.1551C>T	c.(1549-1551)AGC>AGT	p.S517S	KRT1_uc001sav.1_Silent_p.S517S	NM_006121	NP_006112	P04264	K2C1_HUMAN	keratin 1	517	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			ovary(1)|skin(1)	2						cacctcctcggctgccacctc	0.219												
KRT3	3850	broad.mit.edu	37	12	53188043	53188043	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53188043A>G	uc001say.2	-	2	784	c.718T>C	c.(718-720)TCC>CCC	p.S240P		NM_057088	NP_476429	P12035	K2C3_HUMAN	keratin 3	240	Rod.|Linker 1.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity				0						CCTGAGATGGAACTTGTGCCC	0.542												
ZNF740	283337	broad.mit.edu	37	12	53580194	53580194	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53580194C>T	uc001scb.3	+	6	787	c.393C>T	c.(391-393)TGC>TGT	p.C131C		NM_001004304	NP_001004304	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	131	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding				0						CATTTGAATGCGATATATGTG	0.483												
C12orf10	60314	broad.mit.edu	37	12	53700604	53700604	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:53700604A>G	uc001scp.3	+	6	958	c.906A>G	c.(904-906)CGA>CGG	p.R302R	C12orf10_uc009zmx.2_Silent_p.R251R|C12orf10_uc001scq.3_Silent_p.R187R	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	MYG1 protein precursor	302										ovary(2)	2						GACAGTGGCGAATACAGTGTG	0.552												
HOXC5	3222	broad.mit.edu	37	12	54428192	54428192	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:54428192T>C	uc001sew.2	+	2	660	c.585T>C	c.(583-585)AAT>AAC	p.N195N	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	195	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TGTGTCTCAATGAGAGACAGA	0.502												
HOXC4	3221	broad.mit.edu	37	12	54447822	54447822	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:54447822G>A	uc001seu.2	+	3	796	c.116G>A	c.(115-117)CGG>CAG	p.R39Q	HOXC4_uc001sex.2_Missense_Mutation_p.R39Q	NM_014620	NP_055435	P09017	HXC4_HUMAN	homeobox C4	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TATTACGGCCGGACCAGGGAA	0.527												
SMUG1	23583	broad.mit.edu	37	12	54576169	54576169	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:54576169C>T	uc001sff.1	-	4	653	c.524G>A	c.(523-525)CGC>CAC	p.R175H	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.R175H|SMUG1_uc009znf.1_Missense_Mutation_p.R175H|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	175	DNA binding (By similarity).				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						AGTAAGGTTGCGCCCGCTGGG	0.592								BER_DNA_glycosylases				
KIAA0748	9840	broad.mit.edu	37	12	55356472	55356472	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:55356472T>C	uc001sgn.3	-	9	1320	c.1210A>G	c.(1210-1212)ACA>GCA	p.T404A	KIAA0748_uc001sgl.3_Missense_Mutation_p.T266A|KIAA0748_uc001sgm.3_Missense_Mutation_p.T151A|KIAA0748_uc010spb.1_Missense_Mutation_p.T151A|KIAA0748_uc010spc.1_Missense_Mutation_p.T266A|KIAA0748_uc010spd.1_Missense_Mutation_p.T404A|KIAA0748_uc001sgo.3_RNA	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN	hypothetical protein LOC9840	404										ovary(1)|central_nervous_system(1)	2						GCTGGGTCTGTGCTCCACTGT	0.512												
OBFC2B	79035	broad.mit.edu	37	12	56622933	56622933	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56622933C>T	uc001ski.2	+	7	696	c.572C>T	c.(571-573)CCG>CTG	p.P191L	OBFC2B_uc001skk.2_Missense_Mutation_p.P216L|OBFC2B_uc001skj.2_Missense_Mutation_p.P207L	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	oligonucleotide/oligosaccharide-binding fold	191	Pro-rich.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			ovary(1)	1						CCTGCAGGCCCGCCTGGCCCT	0.607								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
TIMELESS	8914	broad.mit.edu	37	12	56822112	56822112	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56822112G>A	uc001slf.2	-	13	1654	c.1486C>T	c.(1486-1488)CGC>TGC	p.R496C	TIMELESS_uc001slg.2_Missense_Mutation_p.R495C	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	496					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						AGGAAAGAGCGGGGCTGGCAT	0.512												
GPR182	11318	broad.mit.edu	37	12	57389756	57389756	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:57389756C>T	uc001smk.2	+	2	857	c.763C>T	c.(763-765)CGC>TGC	p.R255C	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	255	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CAAGAGCCGGCGCCACTGCCT	0.622												
SRGAP1	57522	broad.mit.edu	37	12	64502736	64502736	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:64502736C>T	uc010ssp.1	+	16	1894	c.1838C>T	c.(1837-1839)GCG>GTG	p.A613V	SRGAP1_uc001srv.2_Missense_Mutation_p.A550V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	613	Rho-GAP.				axon guidance	cytosol		p.A613V(1)		ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATGAGAGGGCGCTTCACATC	0.443												
GRIP1	23426	broad.mit.edu	37	12	66935616	66935616	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:66935616C>T	uc001stk.2	-	3	492	c.251G>A	c.(250-252)CGG>CAG	p.R84Q	GRIP1_uc010sta.1_Missense_Mutation_p.R28Q|GRIP1_uc001stl.1_Missense_Mutation_p.R28Q|GRIP1_uc001stm.2_Missense_Mutation_p.R84Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	84	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCCTCCTTGCCGCAGATTAGA	0.463												
IL26	55801	broad.mit.edu	37	12	68595796	68595796	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:68595796A>G	uc001stx.1	-	4	464	c.429_splice	c.e4+1	p.R143_splice		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor						cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TAGAATTCTTACCCTATAAAA	0.269												
PTPRB	5787	broad.mit.edu	37	12	70963466	70963466	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:70963466A>G	uc001swb.3	-	12	2999	c.2969T>C	c.(2968-2970)GTT>GCT	p.V990A	PTPRB_uc010sto.1_Missense_Mutation_p.V990A|PTPRB_uc010stp.1_Missense_Mutation_p.V900A|PTPRB_uc001swc.3_Missense_Mutation_p.V1208A|PTPRB_uc001swa.3_Missense_Mutation_p.V1120A|PTPRB_uc001swd.3_Missense_Mutation_p.V1207A|PTPRB_uc009zrr.1_Missense_Mutation_p.V1087A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	990	Fibronectin type-III 11.|Extracellular (Potential).				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTCCGCCCAACCACATTTAT	0.517												
THAP2	83591	broad.mit.edu	37	12	72068121	72068121	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:72068121A>G	uc001swq.2	+	2	716	c.210A>G	c.(208-210)CGA>CGG	p.R70R		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated	70	THAP-type.					nucleolus	DNA binding|metal ion binding			ovary(1)	1						AAACTCGACGACTTAAAATGG	0.373												
KCNC2	3747	broad.mit.edu	37	12	75441991	75441991	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:75441991T>C	uc001sxg.1	-	4	2266	c.1722A>G	c.(1720-1722)ACA>ACG	p.T574T	KCNC2_uc009zry.2_Silent_p.T574T|KCNC2_uc001sxe.2_Silent_p.T574T|KCNC2_uc001sxf.2_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Shaw-related voltage-gated potassium channel	574	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(2)|pancreas(2)|skin(1)|lung(1)	6						GTAGGAAACATGTTTCCCCTC	0.488												
GLIPR1L2	144321	broad.mit.edu	37	12	75807475	75807475	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:75807475C>T	uc001sxr.1	+	3	586	c.578C>T	c.(577-579)GCG>GTG	p.A193V	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.A193V|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.A86V	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	193						integral to membrane				ovary(1)	1						TGCAACTATGCGCCAGGGTAA	0.289												
NAV3	89795	broad.mit.edu	37	12	78516178	78516178	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:78516178C>T	uc001syp.2	+	16	4381	c.4208C>T	c.(4207-4209)ACG>ATG	p.T1403M	NAV3_uc001syo.2_Missense_Mutation_p.T1403M|NAV3_uc010sub.1_Missense_Mutation_p.T903M|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CTCATGAGAACGGGTAGTGTG	0.552										HNSCC(70;0.22)		
LIN7A	8825	broad.mit.edu	37	12	81242079	81242079	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:81242079G>A	uc001szj.1	-	3	417	c.224C>T	c.(223-225)ACG>ATG	p.T75M	LIN7A_uc001szk.1_RNA	NM_004664	NP_004655	O14910	LIN7A_HUMAN	lin-7 homolog A	75	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			ovary(1)|skin(1)	2						AACAGTTATCGTTTCATGCAT	0.323												
PPFIA2	8499	broad.mit.edu	37	12	81833764	81833764	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:81833764G>A	uc001szo.1	-	7	793	c.632C>T	c.(631-633)GCT>GTT	p.A211V	PPFIA2_uc010sue.1_Missense_Mutation_p.A111V|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_Intron|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	137										ovary(3)|lung(2)|pancreas(1)	6						CTGATTAGCAGCAGCTAGTTC	0.413												
UBE2N	7334	broad.mit.edu	37	12	93804898	93804898	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:93804898G>A	uc001tcp.2	-	2	574	c.208C>T	c.(208-210)CGT>TGT	p.R70C		NM_003348	NP_003339	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	70					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity				0						GTCATGAAACGTACTTTAGGG	0.388								Direct_reversal_of_damage|Rad6_pathway				
TMCC3	57458	broad.mit.edu	37	12	94975589	94975589	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:94975589G>A	uc001tdj.2	-	2	922	c.804C>T	c.(802-804)AAC>AAT	p.N268N	TMCC3_uc001tdi.2_Silent_p.N237N	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	268						integral to membrane				ovary(1)|skin(1)	2						ACTGGTTTCCGTTACTGTCGG	0.592												
C12orf63	374467	broad.mit.edu	37	12	97045387	97045387	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:97045387T>C	uc001tet.1	+	3	247	c.169T>C	c.(169-171)TAT>CAT	p.Y57H		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	57										skin(6)|ovary(1)	7						TCGTGGTGGCTATTGGACTCT	0.383												
ANKS1B	56899	broad.mit.edu	37	12	99447056	99447056	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:99447056G>A	uc001tge.1	-	17	3074	c.2657C>T	c.(2656-2658)CCC>CTC	p.P886L	ANKS1B_uc001tgf.1_Missense_Mutation_p.P462L|ANKS1B_uc001tgk.2_Missense_Mutation_p.P183L|ANKS1B_uc001tgd.1_Missense_Mutation_p.P112L|ANKS1B_uc001tgi.2_Missense_Mutation_p.P112L|ANKS1B_uc009ztr.2_Missense_Mutation_p.P112L|ANKS1B_uc001tgj.2_Missense_Mutation_p.P112L|ANKS1B_uc001tgg.3_Missense_Mutation_p.P55L|ANKS1B_uc010svg.1_Missense_Mutation_p.P81L|ANKS1B_uc009zts.1_Missense_Mutation_p.P112L|ANKS1B_uc001tgm.1_Missense_Mutation_p.P112L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	886	SAM 2.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TACAGAGGTGGGATGGTAGCC	0.413												
ANO4	121601	broad.mit.edu	37	12	101504234	101504234	+	Silent	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:101504234A>T	uc010svm.1	+	23	2774	c.2202A>T	c.(2200-2202)CCA>CCT	p.P734P	ANO4_uc001thw.2_Silent_p.P699P|ANO4_uc001thx.2_Silent_p.P734P|ANO4_uc001thy.2_Silent_p.P254P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	734	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6						CCCTAGCACCACTTCTGGCCT	0.388										HNSCC(74;0.22)		
ASCL1	429	broad.mit.edu	37	12	103352210	103352210	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:103352210C>T	uc001tjr.3	+	1	759	c.188C>T	c.(187-189)GCG>GTG	p.A63V		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	63					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						cagcagcagGCGCCGCAGCTG	0.408												
STAB2	55576	broad.mit.edu	37	12	104034015	104034015	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:104034015G>A	uc001tjw.2	+	9	1207	c.1021G>A	c.(1021-1023)GTC>ATC	p.V341I		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	341	Extracellular (Potential).|EGF-like 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						TTGCACCACCGTCGCACCAGG	0.403												
WSCD2	9671	broad.mit.edu	37	12	108626654	108626654	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:108626654G>T	uc001tms.2	+	7	1870	c.1126G>T	c.(1126-1128)GGC>TGC	p.G376C	WSCD2_uc001tmt.2_Missense_Mutation_p.G376C|WSCD2_uc001tmu.2_Missense_Mutation_p.G124C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	376						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CTACTTCGATGGCTCCCTCTA	0.577												
SART3	9733	broad.mit.edu	37	12	108924005	108924005	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:108924005G>A	uc001tmz.1	-	15	2064	c.1829C>T	c.(1828-1830)GCG>GTG	p.A610V	SART3_uc001tmy.1_Missense_Mutation_p.A136V|SART3_uc009zux.1_Missense_Mutation_p.A222V|SART3_uc010swx.1_Missense_Mutation_p.A574V|SART3_uc010swy.1_Missense_Mutation_p.A496V|SART3_uc010swz.1_Missense_Mutation_p.A610V|SART3_uc001tna.1_RNA	NM_014706	NP_055521	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T	610	Required for nuclear localization.|Potential.|Nuclear localization signal (Potential).				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			pancreas(1)	1						CTTTTTTAACGCTTTCTTCTC	0.483									Porokeratosis			
ACACB	32	broad.mit.edu	37	12	109677751	109677751	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:109677751C>A	uc001tob.2	+	35	4898	c.4779C>A	c.(4777-4779)TTC>TTA	p.F1593L	ACACB_uc001toc.2_Missense_Mutation_p.F1593L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.F259L	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1593					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ACCACATCTTCCTCAACTTCG	0.612												
C12orf34	84915	broad.mit.edu	37	12	110206330	110206330	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:110206330T>C	uc001tpd.1	+	3	1155	c.596T>C	c.(595-597)ATC>ACC	p.I199T	MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.I199T	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	199	Pro-rich.									ovary(1)	1						CTGCCCTCCATCCACAGCCTC	0.731												
ANKRD13A	88455	broad.mit.edu	37	12	110450965	110450965	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:110450965A>G	uc001tpx.2	+	3	524	c.265A>G	c.(265-267)ATG>GTG	p.M89V	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.M89V|ANKRD13A_uc010sxw.1_Missense_Mutation_p.M89V	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	89	ANK 2.										0						CGATCCTGAGATGGTGTACAC	0.433												
ANAPC7	51434	broad.mit.edu	37	12	110812029	110812029	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:110812029C>A	uc001tqo.2	-	11	1721	c.1720G>T	c.(1720-1722)GGG>TGG	p.G574W		NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	anaphase-promoting complex subunit 7 isoform a	574					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding				0						CCTTCTTCCCCACTCCCTTCC	0.622												
HVCN1	84329	broad.mit.edu	37	12	111088012	111088012	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:111088012G>A	uc001trs.1	-	7	882	c.717C>T	c.(715-717)GCC>GCT	p.A239A	HVCN1_uc001trq.1_Silent_p.A239A|HVCN1_uc001trt.1_Silent_p.A239A|HVCN1_uc010syd.1_Silent_p.A219A	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	239	Cytoplasmic (Potential).|Potential.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						GAATCTTGGCGGCCAATTGTA	0.348												
MYL2	4633	broad.mit.edu	37	12	111356949	111356949	+	Missense_Mutation	SNP	A	A	C	rs104894370		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:111356949A>C	uc001try.3	-	2	123	c.52T>G	c.(52-54)TTC>GTC	p.F18V	MYL2_uc001trx.3_5'UTR	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	18					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			ovary(1)	1						AACATGGAGAACACGTTGGAG	0.507												
C12orf51	283450	broad.mit.edu	37	12	112608179	112608179	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112608179C>T	uc009zwc.2	-	62	10762	c.10744G>A	c.(10744-10746)GCG>ACG	p.A3582T		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TCAGGGGCCGCGTGGTCCGCT	0.552												
C12orf51	283450	broad.mit.edu	37	12	112622719	112622719	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112622719T>C	uc009zwc.2	-	54	8803	c.8785A>G	c.(8785-8787)ATG>GTG	p.M2929V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						AACCACAGCATGTCCTCGGGC	0.667												
C12orf51	283450	broad.mit.edu	37	12	112630521	112630521	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112630521G>A	uc009zwc.2	-	52	7887	c.7869C>T	c.(7867-7869)CTC>CTT	p.L2623L		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTTTGTGGCCGAGGCCATATA	0.612												
DTX1	1840	broad.mit.edu	37	12	113532597	113532597	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:113532597T>C	uc001tuk.1	+	6	1567	c.1231T>C	c.(1231-1233)TGC>CGC	p.C411R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	411	RING-type.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCTGCAGGACTGCACCATCTG	0.672												
DTX1	1840	broad.mit.edu	37	12	113534523	113534523	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:113534523C>T	uc001tuk.1	+	9	1978	c.1642C>T	c.(1642-1644)CTG>TTG	p.L548L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	548					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						CCCCCAGGTGCTGCGGCTGCT	0.647												
DDX54	79039	broad.mit.edu	37	12	113600761	113600761	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:113600761G>A	uc001tup.2	-	17	2199	c.2171C>T	c.(2170-2172)ACG>ATG	p.T724M	DDX54_uc001tuq.3_Missense_Mutation_p.T724M	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	724					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						CCGGCCCCTCGTCAGGTTCTG	0.652												
FBXW8	26259	broad.mit.edu	37	12	117387508	117387508	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:117387508C>T	uc001twg.1	+	4	756	c.674C>T	c.(673-675)GCG>GTG	p.A225V	FBXW8_uc001twf.1_Missense_Mutation_p.A159V|FBXW8_uc009zwp.1_RNA	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8 isoform	225	WD 1.						protein binding			ovary(2)|pancreas(1)	3	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGGTCATTGCGGGGTAAGCC	0.498												
TAOK3	51347	broad.mit.edu	37	12	118619376	118619376	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:118619376C>T	uc001twx.2	-	15	1661	c.1366G>A	c.(1366-1368)GAG>AAG	p.E456K	TAOK3_uc001twv.2_5'UTR|TAOK3_uc001tww.2_Missense_Mutation_p.E286K|TAOK3_uc001twy.3_Missense_Mutation_p.E456K	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	456	Potential.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCCGCAACTCGTTCTCCTGC	0.517											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CIT	11113	broad.mit.edu	37	12	120220362	120220362	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:120220362A>G	uc001txi.1	-	13	1678	c.1625T>C	c.(1624-1626)ATC>ACC	p.I542T	CIT_uc001txh.1_Missense_Mutation_p.I76T|CIT_uc001txj.1_Missense_Mutation_p.I542T	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	542	Potential.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGCTCTCTGATATCATGGAG	0.502												
RNF10	9921	broad.mit.edu	37	12	120995154	120995154	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:120995154C>T	uc001typ.3	+	5	1198	c.715C>T	c.(715-717)CGT>TGT	p.R239C	RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R145C	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	239	RING-type.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAAGATAACCCGTTGTGGACA	0.473												
RSRC2	65117	broad.mit.edu	37	12	123001835	123001835	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:123001835G>A	uc001ucr.2	-	5	687	c.541C>T	c.(541-543)CGC>TGC	p.R181C	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R122C|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R133C|RSRC2_uc001ucu.2_Missense_Mutation_p.R181C	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	181	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GATCTTGAGCGGGAACGAGAC	0.493												
PITPNM2	57605	broad.mit.edu	37	12	123472373	123472373	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:123472373T>C	uc001uej.1	-	20	3212	c.3073A>G	c.(3073-3075)ATG>GTG	p.M1025V	PITPNM2_uc001uek.1_Missense_Mutation_p.M1019V	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein,	1025					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGCCCATACATGAACCTGCCC	0.622												
SETD8	387893	broad.mit.edu	37	12	123875317	123875317	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:123875317C>T	uc001uew.2	+	3	315	c.273C>T	c.(271-273)ATC>ATT	p.I91I	SETD8_uc001uex.2_Silent_p.I26I	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	SET domain-containing 8	132					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)		TAGCCGGAATCTACAGGAAAC	0.488												
ATP6V0A2	23545	broad.mit.edu	37	12	124228805	124228805	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:124228805G>A	uc001ufr.2	+	11	1495	c.1247G>A	c.(1246-1248)GGA>GAA	p.G416E		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit	416	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GGAGACTTCGGACATGGCTTT	0.373												
CCDC92	80212	broad.mit.edu	37	12	124421929	124421929	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:124421929G>A	uc001ufw.1	-	5	819	c.672C>T	c.(670-672)TTC>TTT	p.F224F	CCDC92_uc001ufv.1_Silent_p.F207F|CCDC92_uc001ufx.1_Silent_p.F224F|CCDC92_uc001ufy.1_Silent_p.F207F	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	224											0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCTCTGCCCCGAATCTGTAGA	0.602												
NCOR2	9612	broad.mit.edu	37	12	124826557	124826557	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:124826557G>A	uc010tba.1	-	34	5141	c.5024C>T	c.(5023-5025)CCC>CTC	p.P1675L	NCOR2_uc010tay.1_Missense_Mutation_p.P1674L|NCOR2_uc010taz.1_Missense_Mutation_p.P1658L|NCOR2_uc010tbb.1_Missense_Mutation_p.P1667L|NCOR2_uc010tbc.1_Missense_Mutation_p.P1657L|NCOR2_uc010tax.1_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1675					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GATGAGGTAGGGTGGGTACAG	0.662												
UBC	7316	broad.mit.edu	37	12	125397325	125397325	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125397325C>T	uc001ugs.3	-	2	1441	c.993G>A	c.(991-993)AAG>AAA	p.K331K	UBC_uc001ugr.2_RNA|UBC_uc001ugu.1_Silent_p.K331K|UBC_uc001ugt.2_Silent_p.K331K|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.K179K	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	331	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGATCTTTGCCTTGACATTCT	0.517												
UBC	7316	broad.mit.edu	37	12	125397350	125397350	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125397350G>A	uc001ugs.3	-	2	1416	c.968C>T	c.(967-969)CCG>CTG	p.P323L	UBC_uc001ugr.2_RNA|UBC_uc001ugu.1_Missense_Mutation_p.P323L|UBC_uc001ugt.2_Missense_Mutation_p.P323L|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.P171L	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	323	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGTCACTCGGCTCCACTTC	0.522												
UBC	7316	broad.mit.edu	37	12	125397535	125397535	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125397535C>A	uc001ugs.3	-	2	1231	c.783G>T	c.(781-783)AAG>AAT	p.K261N	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.K261N|UBC_uc001ugt.2_Missense_Mutation_p.K261N|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.K109N	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	261	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GAATGCCTTCCTTGTCTTGGA	0.517												
DHX37	57647	broad.mit.edu	37	12	125434766	125434766	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:125434766C>T	uc001ugy.2	-	24	3244	c.3145G>A	c.(3145-3147)GCC>ACC	p.A1049T	DHX37_uc001ugz.1_Missense_Mutation_p.A136T	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1049							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)		ACCTCGATGGCGGGGAGCGGC	0.652												
TMEM132B	114795	broad.mit.edu	37	12	126135480	126135480	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:126135480C>T	uc001uhe.1	+	7	1888	c.1880C>T	c.(1879-1881)CCG>CTG	p.P627L	TMEM132B_uc001uhf.1_Missense_Mutation_p.P139L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	627	Extracellular (Potential).					integral to membrane				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCGGGAGCCGGGAATAACC	0.567												
TMEM132D	121256	broad.mit.edu	37	12	129558566	129558566	+	Missense_Mutation	SNP	C	C	T	rs143281224	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:129558566C>T	uc009zyl.1	-	9	3482	c.3154G>A	c.(3154-3156)GCC>ACC	p.A1052T	TMEM132D_uc001uia.2_Missense_Mutation_p.A590T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	1052	Cytoplasmic (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAGGAGACGGCGGTGAAGGTG	0.517												
RIMBP2	23504	broad.mit.edu	37	12	130926863	130926863	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:130926863G>A	uc001uil.2	-	8	1147	c.983C>T	c.(982-984)ACG>ATG	p.T328M	RIMBP2_uc001uim.2_Missense_Mutation_p.T236M|RIMBP2_uc001uin.1_Translation_Start_Site	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	328	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCTGCTCACCGTTCCCCATCC	0.562												
RIMBP2	23504	broad.mit.edu	37	12	130926883	130926883	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:130926883C>T	uc001uil.2	-	8	1127	c.963G>A	c.(961-963)GCG>GCA	p.A321A	RIMBP2_uc001uim.2_Silent_p.A229A|RIMBP2_uc001uin.1_5'UTR	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	321	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGGTGGCACCGCCGGGGGCT	0.557												
POLE	5426	broad.mit.edu	37	12	133218372	133218372	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:133218372C>T	uc001uks.1	-	39	5283	c.5239G>A	c.(5239-5241)GAC>AAC	p.D1747N	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.D551N|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	1747					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCCTCCATGTCGTTGACATGG	0.612								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
XPO4	64328	broad.mit.edu	37	13	21383964	21383964	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:21383964C>T	uc001unq.3	-	10	1352	c.1316G>A	c.(1315-1317)TGC>TAC	p.C439Y		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	439					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGCTAGGTGGCACTGAATATA	0.363												
SACS	26278	broad.mit.edu	37	13	23909044	23909044	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:23909044G>A	uc001uon.2	-	10	9560	c.8971C>T	c.(8971-8973)CGT>TGT	p.R2991C	SACS_uc001uoo.2_Missense_Mutation_p.R2844C|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2991					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTAAAAGACGTTTCATGTCT	0.368												
SPATA13	221178	broad.mit.edu	37	13	24865020	24865020	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:24865020C>T	uc001upg.1	+	8	1610	c.1203C>T	c.(1201-1203)CAC>CAT	p.H401H	SPATA13_uc001upd.1_Silent_p.H1026H|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.H347H|SPATA13_uc010tcz.1_Silent_p.H285H|SPATA13_uc010tda.1_Silent_p.H345H|SPATA13_uc001uph.2_Silent_p.H323H|SPATA13_uc010tdb.1_Silent_p.H261H|SPATA13_uc009zzz.1_Silent_p.H126H	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	401	DH.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CACAGGAACACGGGTGAGGGG	0.572												
RNF17	56163	broad.mit.edu	37	13	25425689	25425689	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:25425689T>C	uc001upr.2	+	24	3341	c.3300T>C	c.(3298-3300)GGT>GGC	p.G1100G	RNF17_uc010tdd.1_Silent_p.G959G|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.G1096G|RNF17_uc001ups.2_Silent_p.G1039G|RNF17_uc010aac.2_Silent_p.G298G|RNF17_uc010aad.2_Silent_p.G152G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1100					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)		TTAAAAAGGGTTTGGCTTTGA	0.358												
SHISA2	387914	broad.mit.edu	37	13	26621039	26621039	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:26621039A>T	uc001uqm.1	-	2	585	c.500T>A	c.(499-501)ATC>AAC	p.I167N		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	shisa homolog 2 precursor	167	Cytoplasmic (Potential).				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2						GGCACTGGGGATCATGGGGAT	0.672												
MTIF3	219402	broad.mit.edu	37	13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:28014243G>A	uc001urh.2	-	1	1567	c.343C>T	c.(343-345)CGA>TGA	p.R115*	MTIF3_uc001uri.2_Nonsense_Mutation_p.R115*|MTIF3_uc001urj.2_Nonsense_Mutation_p.R115*|MTIF3_uc001urk.2_Nonsense_Mutation_p.R115*	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			ovary(1)|skin(1)	2		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478												
LNX2	222484	broad.mit.edu	37	13	28143294	28143294	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:28143294G>A	uc001url.3	-	3	836	c.527C>T	c.(526-528)CCA>CTA	p.P176L	LNX2_uc001urm.1_Missense_Mutation_p.P176L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	176							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GTCTGCTTCTGGAGATAAGGT	0.527												
PDS5B	23047	broad.mit.edu	37	13	33306284	33306284	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:33306284C>T	uc010abf.2	+	20	2328	c.2170C>T	c.(2170-2172)CGT>TGT	p.R724C	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	724					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGGACCCCCCCGTCAAGCCAA	0.333												
SOHLH2	54937	broad.mit.edu	37	13	36765933	36765933	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:36765933A>G	uc001uvj.2	-	5	618	c.529T>C	c.(529-531)TGC>CGC	p.C177R	SOHLH2_uc010tei.1_Missense_Mutation_p.C254R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	177					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		AAAACTAACCAGGCAAATAGA	0.303												
TRPC4	7223	broad.mit.edu	37	13	38211510	38211510	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:38211510C>T	uc001uws.2	-	11	2699	c.2464G>A	c.(2464-2466)GCC>ACC	p.A822T	TRPC4_uc010abv.2_Missense_Mutation_p.A402T|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.A649T|TRPC4_uc010abx.2_Missense_Mutation_p.A827T|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	822	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ACCACCAGGGCAGAGCCATTG	0.418												
ZC3H13	23091	broad.mit.edu	37	13	46549464	46549464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:46549464G>A	uc010tfw.1	-	11	2428	c.2422C>T	c.(2422-2424)CGA>TGA	p.R808*	ZC3H13_uc001vas.1_Nonsense_Mutation_p.R808*|ZC3H13_uc001vat.1_Nonsense_Mutation_p.R808*	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	808	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTATCTTCTCGGATCTCTTCT	0.323												
C13orf18	80183	broad.mit.edu	37	13	46917574	46917574	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:46917574C>T	uc010acl.2	-	15	2540	c.1935G>A	c.(1933-1935)GCG>GCA	p.A645A	C13orf18_uc010tfy.1_Silent_p.A168A|C13orf18_uc001vbf.3_Silent_p.A578A|C13orf18_uc001vbg.3_Silent_p.A373A|C13orf18_uc010tfz.1_Silent_p.A488A|C13orf18_uc010acm.2_Silent_p.A510A|C13orf18_uc010acn.2_Silent_p.A430A|C13orf18_uc001vbe.3_Missense_Mutation_p.R594Q|C13orf18_uc001vbh.3_Silent_p.A645A|C13orf18_uc001vbi.3_Silent_p.A488A	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	645											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		CTGTGATCCTCGCACACCGGG	0.517												
RCBTB2	1102	broad.mit.edu	37	13	49070346	49070346	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:49070346G>A	uc001vch.2	-	14	1867	c.1496C>T	c.(1495-1497)GCG>GTG	p.A499V	RCBTB2_uc010tgg.1_Missense_Mutation_p.A504V|RCBTB2_uc001vci.2_Missense_Mutation_p.A475V|RCBTB2_uc010tgh.1_Missense_Mutation_p.A225V|RCBTB2_uc001vcj.2_Missense_Mutation_p.A451V	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	499	BTB 2.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATACTTCACCGCAGCCGAGAG	0.478												
MLNR	2862	broad.mit.edu	37	13	49794847	49794847	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:49794847C>T	uc010tgj.1	+	1	374	c.374C>T	c.(373-375)ACG>ATG	p.T125M		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	125	Helical; Name=3; (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		ACCTACGCCACGCTGCTGCAC	0.741												
MLNR	2862	broad.mit.edu	37	13	49796368	49796368	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:49796368C>T	uc010tgj.1	+	2	1094	c.1094C>T	c.(1093-1095)GCG>GTG	p.A365V		NM_001507	NP_001498	O43193	MTLR_HUMAN	motilin receptor	365	Cytoplasmic (Potential).				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity				0		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TACAGAGCGGCGGCCTTTAAA	0.522												
WDFY2	115825	broad.mit.edu	37	13	52325544	52325544	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:52325544G>T	uc001vfp.2	+	8	1164	c.824G>T	c.(823-825)AGG>ATG	p.R275M	WDFY2_uc010ads.1_Missense_Mutation_p.R275M|WDFY2_uc010adt.1_RNA	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	275	WD 6.						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)		GACGTGGAGAGGCAGGAGGTA	0.547												
CKAP2	26586	broad.mit.edu	37	13	53042429	53042429	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:53042429G>A	uc001vgv.2	+	7	1693	c.1496G>A	c.(1495-1497)CGA>CAA	p.R499Q	CKAP2_uc001vgu.2_Missense_Mutation_p.R498Q|CKAP2_uc010tha.1_Missense_Mutation_p.R450Q	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	499					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GAAGAGATGCGACACACGATT	0.294												
PCDH8	5100	broad.mit.edu	37	13	53421150	53421150	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:53421150C>T	uc001vhi.2	-	1	1625	c.1422G>A	c.(1420-1422)GCG>GCA	p.A474A	PCDH8_uc001vhj.2_Silent_p.A474A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	474	Extracellular (Potential).|Cadherin 4.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCAGCGGGGGCGCGCCGCGAT	0.711												
PCDH8	5100	broad.mit.edu	37	13	53422176	53422176	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:53422176C>T	uc001vhi.2	-	1	599	c.396G>A	c.(394-396)GCG>GCA	p.A132A	PCDH8_uc001vhj.2_Silent_p.A132A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	132	Extracellular (Potential).|Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGAAGCGCGGCGCGTGGTCGT	0.692												
TDRD3	81550	broad.mit.edu	37	13	61102729	61102729	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:61102729C>T	uc001via.2	+	11	1879	c.1091C>T	c.(1090-1092)TCT>TTT	p.S364F	TDRD3_uc010aef.2_Missense_Mutation_p.S189F|TDRD3_uc001vhz.3_Missense_Mutation_p.S364F|TDRD3_uc010aeg.2_Missense_Mutation_p.S457F|TDRD3_uc001vib.3_Missense_Mutation_p.S363F	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	364					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCAAGTACTTCTTCAGTATCT	0.378												
TDRD3	81550	broad.mit.edu	37	13	61102745	61102745	+	Silent	SNP	A	A	T	rs139943757	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:61102745A>T	uc001via.2	+	11	1895	c.1107A>T	c.(1105-1107)GTA>GTT	p.V369V	TDRD3_uc010aef.2_Silent_p.V194V|TDRD3_uc001vhz.3_Silent_p.V369V|TDRD3_uc010aeg.2_Silent_p.V462V|TDRD3_uc001vib.3_Silent_p.V368V	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	369					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TATCTGAAGTATGGGCTGAAG	0.373												
PCDH9	5101	broad.mit.edu	37	13	67800275	67800275	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:67800275C>T	uc001vik.2	-	2	2990	c.2298G>A	c.(2296-2298)ACG>ACA	p.T766T	PCDH9_uc001vil.2_Silent_p.T766T|PCDH9_uc010thl.1_Silent_p.T766T|PCDH9_uc001vin.3_Silent_p.T766T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	766	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CAAGCACAAGCGTGTGCAAAG	0.463												
DIS3	22894	broad.mit.edu	37	13	73336167	73336167	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:73336167G>A	uc001vix.3	-	17	2610	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C	DIS3_uc001viy.3_Missense_Mutation_p.R716C|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	746					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATCATACAGCGAGTGGCTAAT	0.398										Multiple Myeloma(4;0.011)		
LMO7	4008	broad.mit.edu	37	13	76397790	76397790	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:76397790C>T	uc001vjv.2	+	12	2791	c.2031C>T	c.(2029-2031)GAC>GAT	p.D677D	LMO7_uc010thv.1_Silent_p.D628D|LMO7_uc001vjt.1_Silent_p.D576D|LMO7_uc010thw.1_Silent_p.D527D|LMO7_uc001vjw.1_Silent_p.D583D	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	962						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAAGCCCGGACGCAAGCCAAC	0.473												
MYCBP2	23077	broad.mit.edu	37	13	77651309	77651309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:77651309G>A	uc001vkf.2	-	68	11675	c.11584C>T	c.(11584-11586)CGA>TGA	p.R3862*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.R3266*|MYCBP2_uc001vke.2_Nonsense_Mutation_p.R482*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGAATACTCGCAGAGTCTCA	0.408												
SLITRK5	26050	broad.mit.edu	37	13	88328655	88328655	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:88328655A>G	uc001vln.2	+	2	1231	c.1012A>G	c.(1012-1014)AAC>GAC	p.N338D	SLITRK5_uc010tic.1_Missense_Mutation_p.N97D	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	338	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCGCCAACCCAACAAGCCCAG	0.587												
GPC5	2262	broad.mit.edu	37	13	92345659	92345659	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:92345659G>A	uc010tif.1	+	3	910	c.544G>A	c.(544-546)GGT>AGT	p.G182S		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	182						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CATTAACCCTGGTGTGACTGA	0.443												
SOX21	11166	broad.mit.edu	37	13	95364183	95364183	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:95364183G>A	uc001vma.2	-	1	207	c.121C>T	c.(121-123)CGC>TGC	p.R41C	uc001vmb.1_5'Flank	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN	SRY-box 21	41	HMG box.			R -> P (in Ref. 4; CAA50466).	regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity				0	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GCGCCCAAGCGCTTGCTGATC	0.627												
DZIP1	22873	broad.mit.edu	37	13	96293996	96293996	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:96293996C>T	uc001vmk.2	-	5	1002	c.150G>A	c.(148-150)GCG>GCA	p.A50A	DZIP1_uc001vml.2_Silent_p.A50A|DZIP1_uc001vmn.2_Silent_p.A39A	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	50					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCCCCGAAGCCGCGCTGGGGG	0.746												
RNF113B	140432	broad.mit.edu	37	13	98828808	98828808	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:98828808C>T	uc001vnk.2	-	1	714	c.683G>A	c.(682-684)CGG>CAG	p.R228Q	FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	ring finger protein 113B	228							nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TTCAAGCTCCCGTTCAATCTC	0.522												
FARP1	10160	broad.mit.edu	37	13	99091389	99091389	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:99091389G>A	uc001vnj.2	+	21	2708	c.2372G>A	c.(2371-2373)CGG>CAG	p.R791Q	FARP1_uc001vnh.2_Missense_Mutation_p.R822Q	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	791	PH 1.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TACACGAGCCGGGGGCTGACG	0.597												
DOCK9	23348	broad.mit.edu	37	13	99532924	99532924	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:99532924G>A	uc001vnt.2	-	26	2806	c.2751C>T	c.(2749-2751)TAC>TAT	p.Y917Y	DOCK9_uc001vnw.2_Silent_p.Y916Y|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.Y917Y|DOCK9_uc010tis.1_Silent_p.Y916Y|DOCK9_uc010tit.1_Silent_p.Y917Y|DOCK9_uc010afu.1_Silent_p.Y763Y	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9 isoform a	917					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTATACGCGTACTTTGAAG	0.463												
TM9SF2	9375	broad.mit.edu	37	13	100169934	100169934	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:100169934G>A	uc001voj.1	+	2	371	c.238G>A	c.(238-240)GCG>ACG	p.A80T	TM9SF2_uc010afz.1_Missense_Mutation_p.A80T	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2 precursor	80	Lumenal (Potential).				transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TGAATACACAGCGTAAGTTTT	0.318												
NALCN	259232	broad.mit.edu	37	13	101735208	101735208	+	Silent	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:101735208T>G	uc001vox.1	-	33	3906	c.3717A>C	c.(3715-3717)GTA>GTC	p.V1239V		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1239	Helical; Name=S2 of repeat IV; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGCCAAAGGTACGGTCACCG	0.517												
COL4A2	1284	broad.mit.edu	37	13	111117863	111117863	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:111117863G>T	uc001vqx.2	+	25	2177	c.1888G>T	c.(1888-1890)GGC>TGC	p.G630C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	630	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGCCTCAAAGGCCAACGTGG	0.637												
MCF2L	23263	broad.mit.edu	37	13	113728775	113728775	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:113728775C>T	uc001vsu.2	+	10	1207	c.1185C>T	c.(1183-1185)GAC>GAT	p.D395D	MCF2L_uc001vsq.2_Silent_p.D395D|MCF2L_uc010tjr.1_Silent_p.D338D|MCF2L_uc001vsr.2_Silent_p.D342D|MCF2L_uc001vss.3_Silent_p.D336D|MCF2L_uc010tjs.1_Silent_p.D336D|MCF2L_uc001vst.1_Silent_p.D300D	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming	368	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			ovary(1)|kidney(1)	2	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCATCTTGGACGCAGCGTCCC	0.587												
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:20295661C>T	uc010tkv.1	+	1	54	c.54C>T	c.(52-54)ACC>ACT	p.T18T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383												
TEP1	7011	broad.mit.edu	37	14	20850793	20850793	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:20850793G>A	uc001vxe.2	-	28	4169	c.4129C>T	c.(4129-4131)CTG>TTG	p.L1377L	TEP1_uc010ahk.2_Silent_p.L720L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L1269L|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1377	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGCTCATACAGCGTGAAGAGC	0.547												
METT11D1	64745	broad.mit.edu	37	14	21464425	21464425	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21464425G>A	uc001vyn.2	+	12	1251	c.1054G>A	c.(1054-1056)GCG>ACG	p.A352T	METT11D1_uc001vym.2_Missense_Mutation_p.A352T|METT11D1_uc001vyo.2_Missense_Mutation_p.A352T|METT11D1_uc001vyp.2_Missense_Mutation_p.A194T|METT11D1_uc001vyq.2_Missense_Mutation_p.A194T|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	352					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTTCTCACAGGCGTACCATCC	0.478												
ZNF219	51222	broad.mit.edu	37	14	21561363	21561363	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21561363G>A	uc001vzr.2	-	3	514	c.93C>T	c.(91-93)AAC>AAT	p.N31N	ZNF219_uc001vzs.2_Silent_p.N31N|ZNF219_uc010aik.1_Silent_p.N31N	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	31					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGGCTGGCCCGTTGGAGTATC	0.687											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RPGRIP1	57096	broad.mit.edu	37	14	21769319	21769319	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21769319G>A	uc001wag.2	+	3	413	c.413G>A	c.(412-414)CGC>CAC	p.R138H		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	138					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGCCCCCGCCGCGCCCAGCCT	0.672												
CHD8	57680	broad.mit.edu	37	14	21861839	21861839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21861839G>A	uc001was.1	-	32	5372	c.5278C>T	c.(5278-5280)CAA>TAA	p.Q1760*	CHD8_uc001war.1_Nonsense_Mutation_p.Q1656*|SNORD9_uc001wat.1_5'Flank	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2039					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)		TCATAGTCTTGTGGGGTTGGT	0.547												
CHD8	57680	broad.mit.edu	37	14	21868737	21868737	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21868737G>A	uc001was.1	-	23	3662	c.3568C>T	c.(3568-3570)CGC>TGC	p.R1190C	CHD8_uc001war.1_Missense_Mutation_p.R1086C|CHD8_uc001wav.1_Missense_Mutation_p.R632C	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1469					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)		CGCTTGAAGCGTCCATGAGAT	0.423												
SALL2	6297	broad.mit.edu	37	14	21993476	21993476	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:21993476G>A	uc001wbe.2	-	2	668	c.386C>T	c.(385-387)GCC>GTC	p.A129V	SALL2_uc010tly.1_Missense_Mutation_p.A127V|SALL2_uc010tlz.1_Missense_Mutation_p.A127V|SALL2_uc001wbf.3_Missense_Mutation_p.A127V|SALL2_uc010tma.1_Missense_Mutation_p.A129V|SALL2_uc001wbg.1_Missense_Mutation_p.A129V	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	129							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGTACCTGTGGCAGCGACCAG	0.652												
ACIN1	22985	broad.mit.edu	37	14	23530581	23530581	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23530581C>T	uc001wit.3	-	17	3852	c.3524G>A	c.(3523-3525)CGT>CAT	p.R1175H	ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R417H|ACIN1_uc001wiq.3_Missense_Mutation_p.R417H|ACIN1_uc001wir.3_Missense_Mutation_p.R448H|ACIN1_uc001wis.3_Missense_Mutation_p.R856H|ACIN1_uc010akg.2_Missense_Mutation_p.R1162H	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1175	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGATCGGGAACGGGGCCCTTC	0.577												
CEBPE	1053	broad.mit.edu	37	14	23586911	23586911	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23586911G>A	uc001wiv.1	-	2	805	c.631C>T	c.(631-633)CGG>TGG	p.R211W		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein epsilon	211	Basic motif.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGCGCTCCCGCCTCAGCCGG	0.617												
MYH6	4624	broad.mit.edu	37	14	23853752	23853752	+	Missense_Mutation	SNP	G	G	A	rs150589765		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23853752G>A	uc001wjv.2	-	36	5531	c.5464C>T	c.(5464-5466)CGG>TGG	p.R1822W		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1822	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)		TCCAGCTCCCGCACCCGCGCT	0.642												
JPH4	84502	broad.mit.edu	37	14	24040144	24040144	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24040144G>A	uc001wkq.2	-	6	2714	c.1796C>T	c.(1795-1797)GCC>GTC	p.A599V	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.2_5'Flank|JPH4_uc010tnr.1_Missense_Mutation_p.A264V|JPH4_uc001wkr.2_Missense_Mutation_p.A599V	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	junctophilin 4	599	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				ovary(1)|pancreas(1)	2	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CACCGGCTGGGCAGGCCTCTC	0.637												
LRRC16B	90668	broad.mit.edu	37	14	24523605	24523605	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24523605A>G	uc001wlj.2	+	5	404	c.247A>G	c.(247-249)ATC>GTC	p.I83V		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	83										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)		TCTCCCCCAGATCCTGGTGGA	0.607												
NFATC4	4776	broad.mit.edu	37	14	24838726	24838726	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24838726C>T	uc001wpc.2	+	2	443	c.122C>T	c.(121-123)CCG>CTG	p.P41L	NFATC4_uc010tok.1_Missense_Mutation_p.P104L|NFATC4_uc010tol.1_Missense_Mutation_p.P104L|NFATC4_uc010alr.2_Missense_Mutation_p.P104L|NFATC4_uc010als.2_Missense_Mutation_p.P54L|NFATC4_uc010tom.1_Missense_Mutation_p.P54L|NFATC4_uc010ton.1_Missense_Mutation_p.P54L|NFATC4_uc010too.1_Missense_Mutation_p.P54L|NFATC4_uc010alt.2_Missense_Mutation_p.P73L|NFATC4_uc010top.1_Missense_Mutation_p.P73L|NFATC4_uc010toq.1_Missense_Mutation_p.P73L|NFATC4_uc010alu.2_Missense_Mutation_p.P41L|NFATC4_uc010tor.1_Missense_Mutation_p.P41L|NFATC4_uc010tos.1_5'UTR|NFATC4_uc010tot.1_Missense_Mutation_p.P29L|NFATC4_uc010tou.1_5'UTR|NFATC4_uc010tov.1_Missense_Mutation_p.P29L|NFATC4_uc010tow.1_5'UTR|NFATC4_uc010alv.2_Missense_Mutation_p.P29L|NFATC4_uc010tox.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	41	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GAGGATGCCCCGCCATGCTGC	0.607												
PRKD1	5587	broad.mit.edu	37	14	30066753	30066753	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:30066753A>G	uc001wqh.2	-	16	2559	c.2378T>C	c.(2377-2379)ATT>ACT	p.I793T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	793	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGCATTCTGAATTTGGTCGTG	0.373												
PRKD1	5587	broad.mit.edu	37	14	30135409	30135409	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:30135409C>T	uc001wqh.2	-	3	590	c.409G>A	c.(409-411)GCC>ACC	p.A137T		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	137					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCAAAGGTGGCGGAAGCTGTA	0.403												
AKAP6	9472	broad.mit.edu	37	14	33291887	33291887	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:33291887G>A	uc001wrq.2	+	13	5038	c.4868G>A	c.(4867-4869)GGC>GAC	p.G1623D		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1623	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGAGCAGTGGCTCAGTTGGT	0.418												
AKAP6	9472	broad.mit.edu	37	14	33291932	33291932	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:33291932G>A	uc001wrq.2	+	13	5083	c.4913G>A	c.(4912-4914)CGT>CAT	p.R1638H		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1638	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCCTGAATCGTTTGGAGAAT	0.428												
TRIM9	114088	broad.mit.edu	37	14	51561062	51561062	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:51561062G>A	uc001wyx.3	-	1	1361	c.596C>T	c.(595-597)CCG>CTG	p.P199L	TRIM9_uc001wyy.2_Missense_Mutation_p.P199L|TRIM9_uc001wyz.3_Missense_Mutation_p.P199L	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	tripartite motif protein 9 isoform 1	199	B box-type 1.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			skin(2)|lung(1)	3	all_epithelial(31;0.00418)|Breast(41;0.148)					CCCCCGGGGCGGGTGGCAGCG	0.687												
NID2	22795	broad.mit.edu	37	14	52494043	52494043	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:52494043G>A	uc001wzo.2	-	12	2784	c.2550C>T	c.(2548-2550)AAC>AAT	p.N850N	NID2_uc010tqs.1_Intron|NID2_uc010tqt.1_Silent_p.N850N|NID2_uc001wzp.2_Silent_p.N850N	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	850	EGF-like 4.					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)					CCTCACAGGGGTTGGCAGGTG	0.488												
NID2	22795	broad.mit.edu	37	14	52520475	52520475	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:52520475G>A	uc001wzo.2	-	5	1485	c.1251C>T	c.(1249-1251)AAC>AAT	p.N417N	NID2_uc010tqs.1_Silent_p.N417N|NID2_uc010tqt.1_Silent_p.N417N|NID2_uc001wzp.2_Silent_p.N417N	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	417						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)					GGATGCTTCCGTTTTCGGGGT	0.557												
KCNH5	27133	broad.mit.edu	37	14	63453879	63453879	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:63453879G>A	uc001xfx.2	-	5	511	c.460C>T	c.(460-462)CGG>TGG	p.R154W	KCNH5_uc001xfy.2_Missense_Mutation_p.R154W|KCNH5_uc001xfz.1_Missense_Mutation_p.R96W|KCNH5_uc001xga.2_Missense_Mutation_p.R96W	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	154	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTCAAAGCCCGTGTCAATCGG	0.383												
SYNE2	23224	broad.mit.edu	37	14	64681059	64681059	+	Missense_Mutation	SNP	G	G	A	rs140450053	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:64681059G>A	uc001xgm.2	+	106	19434	c.19204G>A	c.(19204-19206)GAG>AAG	p.E6402K	SYNE2_uc001xgl.2_Missense_Mutation_p.E6402K|SYNE2_uc010apy.2_Missense_Mutation_p.E2787K|SYNE2_uc001xgn.2_Missense_Mutation_p.E1364K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E372K|SYNE2_uc001xgq.2_Missense_Mutation_p.E767K|SYNE2_uc001xgr.2_Missense_Mutation_p.E185K|SYNE2_uc010tsi.1_Missense_Mutation_p.E36K|SYNE2_uc001xgs.2_Missense_Mutation_p.E36K|SYNE2_uc001xgt.2_5'Flank	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6402	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCCAGGGCACGAGCGGTCTGG	0.622												
C14orf50	145376	broad.mit.edu	37	14	65054951	65054951	+	Silent	SNP	C	C	T	rs147167561	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:65054951C>T	uc001xhl.1	+	11	1116	c.1020C>T	c.(1018-1020)GAC>GAT	p.D340D	C14orf50_uc001xhm.1_Silent_p.D70D	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	hypothetical protein LOC145376	340										skin(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)		ATCAAGTAGACGTCAGATTCC	0.473												
MAX	4149	broad.mit.edu	37	14	65543363	65543363	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:65543363G>A	uc001xif.1	-	5	484	c.314C>T	c.(313-315)GCG>GTG	p.A105V	MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc010aql.1_Nonsense_Mutation_p.R19*|MAX_uc001xig.1_Missense_Mutation_p.A96V|MAX_uc001xih.1_RNA	NM_002382	NP_002373	P61244	MAX_HUMAN	MAX protein isoform a	105					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ACTTGACCTCGCCTTCTCCAG	0.577												
GALNTL1	57452	broad.mit.edu	37	14	69798253	69798253	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:69798253G>A	uc010aqu.1	+	7	856	c.763G>A	c.(763-765)GCT>ACT	p.A255T	GALNTL1_uc001xla.1_Missense_Mutation_p.A255T|GALNTL1_uc001xlb.1_Missense_Mutation_p.A255T	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	255	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TGCAGCATCTGCTGACCTTCG	0.542												
PCNX	22990	broad.mit.edu	37	14	71575563	71575563	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:71575563G>A	uc001xmo.2	+	34	6990	c.6544G>A	c.(6544-6546)GGC>AGC	p.G2182S	PCNX_uc010are.1_Missense_Mutation_p.G2071S|PCNX_uc010arf.1_Missense_Mutation_p.G970S|PCNX_uc001xmp.2_Missense_Mutation_p.G266S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	2182	Ser-rich.					integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGGTCAGAGCGGCCTGGCCTG	0.562												
SIPA1L1	26037	broad.mit.edu	37	14	72191431	72191431	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:72191431G>A	uc001xms.2	+	17	4904	c.4556G>A	c.(4555-4557)CGT>CAT	p.R1519H	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1498H|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1498H|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1519H|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R973H|SIPA1L1_uc001xmw.2_Missense_Mutation_p.R284H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1519					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCAGGCTGCGTGCCTCAACC	0.493												
RGS6	9628	broad.mit.edu	37	14	72818895	72818895	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:72818895C>T	uc001xna.3	+	3	700	c.177C>T	c.(175-177)GTC>GTT	p.V59V	RGS6_uc010ttn.1_Silent_p.V59V|RGS6_uc001xmx.3_Silent_p.V59V|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.V59V	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	59	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCCCCAGTGTCGTCACAGGTA	0.463												
ABCD4	5826	broad.mit.edu	37	14	74769598	74769598	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:74769598G>A	uc001xpr.2	-	1	170	c.18C>T	c.(16-18)CCC>CCT	p.P6P	ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_5'UTR|ABCD4_uc001xpu.2_5'UTR|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	6						ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CTCCGGGCGCGGGCCCCGCGA	0.701											OREG0022802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LTBP2	4053	broad.mit.edu	37	14	74995671	74995671	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:74995671C>T	uc001xqa.2	-	11	2529	c.2142G>A	c.(2140-2142)CTG>CTA	p.L714L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	714	TB 2.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTGTGCCAGGCAGAGGGCATT	0.607												
RPS6KL1	83694	broad.mit.edu	37	14	75376455	75376455	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:75376455G>A	uc010tux.1	-	7	1589	c.1061C>T	c.(1060-1062)CCG>CTG	p.P354L	RPS6KL1_uc001xqx.1_Missense_Mutation_p.P106L|RPS6KL1_uc001xqw.2_Missense_Mutation_p.P323L|RPS6KL1_uc010asd.1_RNA	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	354	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			ovary(1)|stomach(1)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCCTAGCACCGGGCCGGCCCC	0.701												
MLH3	27030	broad.mit.edu	37	14	75516318	75516318	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:75516318C>T	uc001xrd.1	-	2	257	c.41G>A	c.(40-42)CGT>CAT	p.R14H	MLH3_uc001xre.1_Missense_Mutation_p.R14H|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	14					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CAAACCAGAACGCAATTTGGC	0.453								MMR				
C14orf118	55668	broad.mit.edu	37	14	76620816	76620816	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:76620816G>A	uc001xsh.2	+	2	196	c.110G>A	c.(109-111)CGG>CAG	p.R37Q	C14orf118_uc001xsi.2_Missense_Mutation_p.R37Q|C14orf118_uc001xsj.1_Missense_Mutation_p.R37Q|C14orf118_uc001xsk.1_Missense_Mutation_p.R37Q|C14orf118_uc001xsl.2_RNA	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	hypothetical protein LOC55668 isoform 1	37	Arg-rich.									ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.0172)		CAGCAGAGGCGGCAGCTTCGG	0.582												
STON2	85439	broad.mit.edu	37	14	81744277	81744277	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:81744277G>A	uc010tvu.1	-	4	1579	c.1378C>T	c.(1378-1380)CAG>TAG	p.Q460*	STON2_uc001xvk.1_Nonsense_Mutation_p.Q460*|STON2_uc010tvt.1_Nonsense_Mutation_p.Q257*	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	460	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TAATACAGCTGCAGGTAACCA	0.483												
TTC7B	145567	broad.mit.edu	37	14	91247217	91247217	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:91247217C>A	uc001xyp.2	-	3	432	c.310G>T	c.(310-312)GCC>TCC	p.A104S		NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	104	TPR 1.						binding			ovary(2)	2		Melanoma(154;0.222)				TTCAACTTGGCCATGATCAGA	0.463												
C14orf159	80017	broad.mit.edu	37	14	91671055	91671055	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:91671055G>A	uc001xzb.2	+	14	2203	c.1435G>A	c.(1435-1437)GGT>AGT	p.G479S	C14orf159_uc001xyx.2_Intron|C14orf159_uc001xyw.2_Missense_Mutation_p.G484S|C14orf159_uc001xzc.2_Missense_Mutation_p.G479S|C14orf159_uc001xza.2_Missense_Mutation_p.G484S|C14orf159_uc001xyv.2_Intron|C14orf159_uc001xyz.2_Missense_Mutation_p.G355S|C14orf159_uc001xze.2_Missense_Mutation_p.G479S	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	479						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTCAGGAGTCGGTGATGGAGG	0.597												
SMEK1	55671	broad.mit.edu	37	14	91948517	91948517	+	Silent	SNP	G	G	A	rs138032388		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:91948517G>A	uc001xzn.2	-	4	1140	c.318C>T	c.(316-318)TCC>TCT	p.S106S	SMEK1_uc001xzm.2_Silent_p.S106S|SMEK1_uc001xzo.2_Silent_p.S106S|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_5'UTR	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1	106						microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TGATGTCCACGGAAGGGTCCT	0.403												
SLC24A4	123041	broad.mit.edu	37	14	92959869	92959869	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:92959869T>C	uc001yak.2	+	17	1739	c.1715T>C	c.(1714-1716)GTC>GCC	p.V572A	SLC24A4_uc001yai.2_Missense_Mutation_p.V525A|SLC24A4_uc010twm.1_Missense_Mutation_p.V570A|SLC24A4_uc001yaj.2_Missense_Mutation_p.V553A|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.V345A|SLC24A4_uc001yan.2_Missense_Mutation_p.V283A	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	589	Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AAGCTGGGTGTCTACGTGCTG	0.517												
COX8C	341947	broad.mit.edu	37	14	93813694	93813694	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:93813694G>A	uc001ybt.1	+	1	158	c.80G>A	c.(79-81)CGC>CAC	p.R27H	KIAA1409_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIc	27						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity				0		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CCCGCTCCCCGCTTCGCCCAC	0.741												
ASB2	51676	broad.mit.edu	37	14	94413727	94413727	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:94413727C>T	uc001ycc.1	-	5	1365	c.876G>A	c.(874-876)CCG>CCA	p.P292P	ASB2_uc001ycd.2_Silent_p.P340P|ASB2_uc001yce.1_Silent_p.P238P	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	292	ANK 8.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGATGTGCAGCGGGAGCAAGC	0.622												
C14orf49	161176	broad.mit.edu	37	14	95934206	95934206	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:95934206G>A	uc001yei.3	-	2	258	c.243C>T	c.(241-243)CCC>CCT	p.P81P	C14orf49_uc010avi.2_Silent_p.P81P|C14orf49_uc001yej.1_Silent_p.P81P	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	nesprin-3	81	Cytoplasmic (Potential).				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			central_nervous_system(1)	1		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCAGGATCCCGGGCTTCTGGT	0.612												
BCL11B	64919	broad.mit.edu	37	14	99641430	99641430	+	Silent	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:99641430G>C	uc001yga.2	-	4	2010	c.1743C>G	c.(1741-1743)GGC>GGG	p.G581G	BCL11B_uc001ygb.2_Silent_p.G510G	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	581	Gly-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		Tggccgcgccgccccccgcgc	0.562			T	TLX3	T-ALL							
EML1	2009	broad.mit.edu	37	14	100406391	100406391	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:100406391G>A	uc001ygs.2	+	22	2459	c.2390G>A	c.(2389-2391)AGC>AAC	p.S797N	EML1_uc010tww.1_Missense_Mutation_p.S785N|EML1_uc001ygr.2_Missense_Mutation_p.S816N	NM_004434	NP_004425	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	797	WD 11.					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGTGAAGACAGCCACCTCATC	0.567												
BEGAIN	57596	broad.mit.edu	37	14	101004539	101004539	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:101004539C>T	uc010txa.1	-	6	1695	c.1549G>A	c.(1549-1551)GAG>AAG	p.E517K	BEGAIN_uc001yhp.2_Missense_Mutation_p.E453K|BEGAIN_uc001yhq.2_Missense_Mutation_p.E517K	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	517						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				TCCCCCCCCTCGCTGGGTGCA	0.731												
BEGAIN	57596	broad.mit.edu	37	14	101011342	101011342	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:101011342G>A	uc010txa.1	-	3	384	c.238C>T	c.(238-240)CGC>TGC	p.R80C	BEGAIN_uc001yhp.2_Missense_Mutation_p.R16C|BEGAIN_uc001yhq.2_Missense_Mutation_p.R80C	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	80						cytoplasm|membrane	protein binding				0		Melanoma(154;0.212)				CTCACCATGCGGTACAGCTTG	0.657												
DYNC1H1	1778	broad.mit.edu	37	14	102471540	102471540	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102471540G>C	uc001yks.2	+	26	5564	c.5400G>C	c.(5398-5400)CAG>CAC	p.Q1800H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1800	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TCATGGAGCAGCCCCCACTCC	0.547												
DYNC1H1	1778	broad.mit.edu	37	14	102494389	102494389	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102494389C>T	uc001yks.2	+	48	9543	c.9379C>T	c.(9379-9381)CCA>TCA	p.P3127S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3127	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGATTACATGCCAGTTGTGTA	0.483												
DYNC1H1	1778	broad.mit.edu	37	14	102505836	102505836	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102505836A>G	uc001yks.2	+	61	11712	c.11548A>G	c.(11548-11550)ACC>GCC	p.T3850A		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3850					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GAAGGGTGTCACCGACCACAC	0.532												
WDR20	91833	broad.mit.edu	37	14	102675570	102675570	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:102675570C>T	uc001ykz.2	+	3	1112	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	WDR20_uc001yky.1_Missense_Mutation_p.R98W|WDR20_uc001yla.2_Missense_Mutation_p.R231W|WDR20_uc001ylb.2_Missense_Mutation_p.R294W|WDR20_uc010txu.1_Missense_Mutation_p.R386W|WDR20_uc001ylc.2_Intron|WDR20_uc001yld.2_Missense_Mutation_p.R355W|WDR20_uc001yle.2_Missense_Mutation_p.R294W|WDR20_uc001ylf.2_Missense_Mutation_p.R367W	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20 isoform 2	355	WD 4.										0						GCTCTCCAAACGGAACTCTAC	0.507											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CDC42BPB	9578	broad.mit.edu	37	14	103432702	103432702	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:103432702G>A	uc001ymi.1	-	18	2726	c.2494C>T	c.(2494-2496)CGG>TGG	p.R832W	CDC42BPB_uc001ymj.1_5'Flank	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	832					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGGTAACCCCGGGCATCTTTC	0.517												
ASPG	374569	broad.mit.edu	37	14	104575630	104575630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:104575630G>T	uc001yoq.1	+	13	1558	c.1498G>T	c.(1498-1500)GAA>TAA	p.E500*	ASPG_uc001yop.1_Nonsense_Mutation_p.E500*|ASPG_uc001yor.1_Nonsense_Mutation_p.E500*	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	60 kDa lysophospholipase	500					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity				0						GGAGCTGGAGGAAGCAGGGAC	0.632												
KIF26A	26153	broad.mit.edu	37	14	104641944	104641944	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:104641944C>T	uc001yos.3	+	12	2819	c.2819C>T	c.(2818-2820)GCA>GTA	p.A940V		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	940					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GAAAAGGCTGCAGTGAGTGGA	0.667												
ADSSL1	122622	broad.mit.edu	37	14	105207035	105207035	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:105207035T>C	uc001ypd.2	+	6	648	c.574T>C	c.(574-576)TTT>CTT	p.F192L	INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.F235L|ADSSL1_uc001ypf.2_RNA	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1 isoform 2	192					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(1)|central_nervous_system(1)	2		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	TTTTGATGAGTTTTCCTCCAG	0.592												
MAGEL2	54551	broad.mit.edu	37	15	23889179	23889179	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:23889179G>A	uc001ywj.3	-	1	1997	c.1902C>T	c.(1900-1902)GAC>GAT	p.D634D		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CGTGGGCACTGTCACCGGTGT	0.587												
TRPM1	4308	broad.mit.edu	37	15	31320576	31320576	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:31320576G>A	uc001zfm.2	-	24	3314	c.3186C>T	c.(3184-3186)GTC>GTT	p.V1062V	TRPM1_uc010azy.2_Silent_p.V969V|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1062	Helical; (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGATGTTGGCGACCAGTAGAT	0.507												
RYR3	6263	broad.mit.edu	37	15	33893742	33893742	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:33893742C>T	uc001zhi.2	+	17	1981	c.1911C>T	c.(1909-1911)AAC>AAT	p.N637N	RYR3_uc010bar.2_Silent_p.N637N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	637	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGATTAACGATGTAACCA	0.507												
C15orf55	256646	broad.mit.edu	37	15	34640529	34640529	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:34640529C>A	uc001zif.2	+	2	531	c.376C>A	c.(376-378)CTT>ATT	p.L126I	C15orf55_uc010ucc.1_Missense_Mutation_p.L154I|C15orf55_uc010ucd.1_Missense_Mutation_p.L144I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	126	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CTGTGGAGGCCTTGAGGGTCC	0.562			T	BRD3|BRD4	lethal midline carcinoma							
DNAJC17	55192	broad.mit.edu	37	15	41060175	41060175	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:41060175C>T	uc001zms.1	-	11	889	c.878G>A	c.(877-879)CGG>CAG	p.R293Q	C15orf62_uc010bby.2_5'Flank	NM_018163	NP_060633	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	293					protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding				0		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTGCTGCATCCGTGCGATCAG	0.592												
RPAP1	26015	broad.mit.edu	37	15	41822179	41822179	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:41822179T>C	uc001zod.2	-	8	1068	c.944_splice	c.e8-1	p.A315_splice		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1							nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATGCCAGAGCTGGGGAGACAA	0.582												
TYRO3	7301	broad.mit.edu	37	15	41859622	41859622	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:41859622G>A	uc001zof.1	+	7	1072	c.848G>A	c.(847-849)TGC>TAC	p.C283Y		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	283	Fibronectin type-III 1.|Extracellular (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCTTTACCTGCCTGCTCCGG	0.602												
CDAN1	146059	broad.mit.edu	37	15	43023873	43023873	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:43023873G>T	uc001zql.2	-	11	1801	c.1684C>A	c.(1684-1686)CCC>ACC	p.P562T	CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	codanin 1	562						integral to membrane	protein binding			ovary(2)	2		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGAAGGTGGGGGGTGGGCAG	0.602												
ZSCAN29	146050	broad.mit.edu	37	15	43661121	43661121	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:43661121C>T	uc001zrk.1	-	2	670	c.523G>A	c.(523-525)GGA>AGA	p.G175R	ZSCAN29_uc001zrj.1_Missense_Mutation_p.G55R|ZSCAN29_uc010bdf.1_Missense_Mutation_p.G174R|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.G174S|ZSCAN29_uc001zrm.2_Missense_Mutation_p.G174R|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	175					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TACTCCTCACCGCTCCTTTGA	0.502												
DUOX1	53905	broad.mit.edu	37	15	45444070	45444070	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:45444070A>G	uc001zus.1	+	25	3361	c.3015_splice	c.e25-2	p.K1005_splice	DUOX1_uc001zut.1_Splice_Site_p.K1005_splice|DUOX1_uc010bee.1_Splice_Site_p.K385_splice|DUOX1_uc001zuu.2_Splice_Site_p.K147_splice	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor						cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGTCTCCCAGGGTAACGTC	0.597												
MYEF2	50804	broad.mit.edu	37	15	48441562	48441562	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48441562C>T	uc001zwi.3	-	15	1509	c.1385G>A	c.(1384-1386)GGA>GAA	p.G462E	MYEF2_uc001zwg.3_5'UTR|MYEF2_uc001zwh.3_Missense_Mutation_p.G50E|MYEF2_uc001zwj.3_Missense_Mutation_p.G438E	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	462	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			lung(2)|ovary(1)	3		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		GCTACCCATTCCACCACCTGG	0.383												
SLC12A1	6557	broad.mit.edu	37	15	48537040	48537040	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48537040G>A	uc001zwn.3	+	11	1607	c.1391G>A	c.(1390-1392)GGC>GAC	p.G464D	SLC12A1_uc010uew.1_Missense_Mutation_p.G270D|SLC12A1_uc010bem.2_Missense_Mutation_p.G464D|SLC12A1_uc001zwq.3_Missense_Mutation_p.G235D|SLC12A1_uc001zwr.3_Missense_Mutation_p.G191D	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	464					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGTGGGTTGGGCTATGACTTC	0.458												
FBN1	2200	broad.mit.edu	37	15	48802279	48802279	+	Missense_Mutation	SNP	G	G	A	rs141551765	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48802279G>A	uc001zwx.1	-	14	2004	c.1676C>T	c.(1675-1677)GCG>GTG	p.A559V		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	559	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAAAGCCCGCATTACACAC	0.408												
FBN1	2200	broad.mit.edu	37	15	48936963	48936963	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:48936963G>A	uc001zwx.1	-	2	332	c.4C>T	c.(4-6)CGT>TGT	p.R2C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGCCCTCGACGCATGATGCCG	0.706												
WDR72	256764	broad.mit.edu	37	15	54005035	54005035	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:54005035G>A	uc002acj.2	-	7	687	c.645C>T	c.(643-645)TGC>TGT	p.C215C	WDR72_uc010bfi.1_Silent_p.C215C	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	215										lung(1)|skin(1)	2				all cancers(107;0.0511)		GAATTGTCTGGCAGTTCAAGG	0.323												
UNC13C	440279	broad.mit.edu	37	15	54586097	54586097	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:54586097T>C	uc002ack.2	+	9	3823	c.3823T>C	c.(3823-3825)TGT>CGT	p.C1275R	UNC13C_uc002acl.2_Missense_Mutation_p.C105R	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1275	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCAGTGAGTGTCATAACTC	0.318												
TCF12	6938	broad.mit.edu	37	15	57545514	57545514	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:57545514C>T	uc002aec.2	+	15	1527	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W	TCF12_uc010ugm.1_Missense_Mutation_p.R467W|TCF12_uc010ugn.1_Missense_Mutation_p.R435W|TCF12_uc002aea.2_Missense_Mutation_p.R439W|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.R439W|TCF12_uc002aed.2_Missense_Mutation_p.R415W|TCF12_uc002aee.2_Missense_Mutation_p.R245W|TCF12_uc010bft.2_Missense_Mutation_p.R269W|TCF12_uc010ugo.1_Missense_Mutation_p.R179W|TCF12_uc010ugp.1_Missense_Mutation_p.R73W|TCF12_uc010ugq.1_Missense_Mutation_p.R49W|TCF12_uc010ugr.1_Missense_Mutation_p.R28W	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	415					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCATGTGCTGCGGAACCATGC	0.453			T	TEC	extraskeletal myxoid chondrosarcoma							
CGNL1	84952	broad.mit.edu	37	15	57820963	57820963	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:57820963G>A	uc002aeg.2	+	13	3227	c.3151G>A	c.(3151-3153)GCC>ACC	p.A1051T	CGNL1_uc010bfw.2_Missense_Mutation_p.A1051T	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1051	Potential.					myosin complex|tight junction	motor activity	p.A1051A(1)		skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAGCTGGAAGCCAAGAGTCA	0.572												
RORA	6095	broad.mit.edu	37	15	60792196	60792196	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:60792196T>C	uc002agv.2	-	11	1557	c.1401A>G	c.(1399-1401)TCA>TCG	p.S467S	uc002ags.1_Intron|RORA_uc002agt.3_Silent_p.S379S|RORA_uc002agw.2_Silent_p.S459S|RORA_uc002agx.2_Silent_p.S434S	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	467	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2						CTTGCAGCCATGAGCGATCTA	0.368												
VPS13C	54832	broad.mit.edu	37	15	62304323	62304323	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:62304323G>T	uc002agz.2	-	12	940	c.866C>A	c.(865-867)CCC>CAC	p.P289H	VPS13C_uc002aha.2_Missense_Mutation_p.P246H|VPS13C_uc002ahb.1_Missense_Mutation_p.P289H|VPS13C_uc002ahc.1_Missense_Mutation_p.P246H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	289					protein localization					ovary(2)	2						ATAATTTGGGGGTATATTTCC	0.249												
TLN2	83660	broad.mit.edu	37	15	63069085	63069085	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:63069085C>T	uc002alb.3	+	40	5490	c.5490C>T	c.(5488-5490)GAC>GAT	p.D1830D	TLN2_uc002alc.3_Silent_p.D223D|TLN2_uc002ald.2_Silent_p.D223D	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1830					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						GCATGGTGGACGCCATTGCAG	0.582												
ZNF609	23060	broad.mit.edu	37	15	64973051	64973051	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:64973051C>A	uc002ann.2	+	7	4152	c.4152C>A	c.(4150-4152)CCC>CCA	p.P1384P		NM_015042	NP_055857	O15014	ZN609_HUMAN	zinc finger protein 609	1384						nucleus	zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						ACAACTTACCCTATGCAGCAG	0.488												
PIF1	80119	broad.mit.edu	37	15	65108536	65108536	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:65108536C>A	uc002ant.2	-	13	1953	c.1887G>T	c.(1885-1887)GAG>GAT	p.E629D	PIF1_uc002anr.2_Missense_Mutation_p.E177D|PIF1_uc002ans.2_Missense_Mutation_p.E320D|PIF1_uc010uiq.1_Missense_Mutation_p.E629D	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	DNA helicase homolog PIF1	629	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding				0						CTGAGGCTGCCTCATCATCAT	0.582												
PARP16	54956	broad.mit.edu	37	15	65551865	65551865	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:65551865G>T	uc002aoo.2	-	6	1103	c.849C>A	c.(847-849)CTC>CTA	p.L283L	PARP16_uc002aop.2_Silent_p.L168L|PARP16_uc002aoq.2_Silent_p.L284L	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	283						integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						AAAACCAGGAGAGCTGGCTCG	0.433												
IGDCC3	9543	broad.mit.edu	37	15	65627706	65627706	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:65627706T>C	uc002aos.2	-	4	860	c.608A>G	c.(607-609)GAC>GGC	p.D203G		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	203	Extracellular (Potential).|Ig-like C2-type 2.									ovary(3)	3						GATGCCACCGTCCTCAGCTCG	0.582												
ITGA11	22801	broad.mit.edu	37	15	68631954	68631954	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:68631954G>A	uc002ari.2	-	11	1247	c.1160C>T	c.(1159-1161)GCC>GTC	p.A387V	ITGA11_uc010bib.2_Missense_Mutation_p.A387V	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	387	FG-GAP 3.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)	CCAGTCATAGGCACCGACGGC	0.592												
CORO2B	10391	broad.mit.edu	37	15	69011527	69011527	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:69011527G>T	uc002arj.3	+	10	1154	c.1125G>T	c.(1123-1125)ACG>ACT	p.T375T	CORO2B_uc010bic.2_Silent_p.T370T|CORO2B_uc002ark.2_Silent_p.T142T	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	375					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						CACCAGGCACGGAGCCAGCAC	0.577												
KIF23	9493	broad.mit.edu	37	15	69732651	69732651	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:69732651G>A	uc002asb.2	+	17	2009	c.1892G>A	c.(1891-1893)CGT>CAT	p.R631H	KIF23_uc002asc.2_Missense_Mutation_p.R631H|KIF23_uc010bii.2_Missense_Mutation_p.R521H|KIF23_uc010ukc.1_Missense_Mutation_p.R448H	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	631					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0						CTGTAGGAGCGTAGAGTGGCA	0.398												
C15orf60	283677	broad.mit.edu	37	15	73852107	73852107	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:73852107G>A	uc002avq.2	+	6	679	c.651G>A	c.(649-651)TCG>TCA	p.S217S	C15orf60_uc010bjb.2_Silent_p.S189S	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	hypothetical protein LOC283677	217										pancreas(1)	1						TTCTGGCATCGGAGGAGCTGC	0.463												
ISLR2	57611	broad.mit.edu	37	15	74425173	74425173	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:74425173C>T	uc002axd.2	+	4	847	c.78C>T	c.(76-78)TGC>TGT	p.C26C	ISLR2_uc002axe.2_Silent_p.C26C|ISLR2_uc010bjg.2_Silent_p.C26C|ISLR2_uc010bjf.2_Silent_p.C26C	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	26	Extracellular (Potential).|LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CGTGCGCCTGCGTGGACAAGT	0.637												
CYP11A1	1583	broad.mit.edu	37	15	74640344	74640344	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:74640344C>G	uc002axt.2	-	2	477	c.322G>C	c.(322-324)GCC>CCC	p.A108P	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Missense_Mutation_p.A108P|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Missense_Mutation_p.A108P	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	108					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AAGAGAAGGGCCACATCTTCA	0.483												
CLK3	1198	broad.mit.edu	37	15	74911579	74911579	+	Silent	SNP	G	G	A	rs150664892	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:74911579G>A	uc010uln.1	+	2	947	c.486G>A	c.(484-486)CCG>CCA	p.P162P	CLK3_uc002ayg.3_Silent_p.P14P|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.P162P|CLK3_uc002ayj.3_Silent_p.P14P|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	162						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						AACCAGACCCGTACCTGAGCT	0.592												
CPLX3	594855	broad.mit.edu	37	15	75120416	75120416	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:75120416G>A	uc002ayu.1	+	2	300	c.206G>A	c.(205-207)CGG>CAG	p.R69Q		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	complexin 3 precursor	69	Potential.					cell junction|synapse	syntaxin binding				0						AAGGCAGAGCGGGCCACACTG	0.622												
ODF3L1	161753	broad.mit.edu	37	15	76017535	76017535	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:76017535C>A	uc002bax.1	+	2	427	c.205C>A	c.(205-207)CTG>ATG	p.L69M		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	69											0						AGCTTATACCCTGCATAGCCG	0.587												
C15orf27	123591	broad.mit.edu	37	15	76496086	76496086	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:76496086C>T	uc002bbq.2	+	11	1181	c.1026C>T	c.(1024-1026)AGC>AGT	p.S342S	C15orf27_uc010bkp.2_Silent_p.S158S|C15orf27_uc002bbr.2_Silent_p.S158S|C15orf27_uc002bbs.2_Silent_p.S20S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	hypothetical protein LOC123591	342						integral to membrane					0						TTGCAGACAGCGGTGTCCCAG	0.597												
TSPAN3	10099	broad.mit.edu	37	15	77348183	77348183	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:77348183A>C	uc002bcj.2	-	3	495	c.278T>G	c.(277-279)GTT>GGT	p.V93G	TSPAN3_uc002bck.2_Intron|TSPAN3_uc010ump.1_Missense_Mutation_p.V29G|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	93	Helical; (Potential).					integral to membrane					0				all cancers(203;1.14e-19)		TGTGACAAAAACCAAGAGCAG	0.294												
SGK269	79834	broad.mit.edu	37	15	77471616	77471616	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:77471616G>T	uc002bcm.2	-	3	2961	c.2653C>A	c.(2653-2655)CTT>ATT	p.L885I	SGK269_uc002bcn.2_Missense_Mutation_p.L885I	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	885					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CTCTGCAAAAGGTTACCTGCA	0.557												
ACSBG1	23205	broad.mit.edu	37	15	78466028	78466028	+	Missense_Mutation	SNP	G	G	A	rs146939982	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:78466028G>A	uc002bdh.2	-	13	2052	c.1996C>T	c.(1996-1998)CGG>TGG	p.R666W	ACSBG1_uc010umw.1_Missense_Mutation_p.R662W|ACSBG1_uc010umx.1_Missense_Mutation_p.R424W	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	666					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TTGACCCTCCGGATCCCCTCT	0.582												
TMED3	23423	broad.mit.edu	37	15	79614413	79614413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:79614413C>T	uc002beu.2	+	3	612	c.511C>T	c.(511-513)CGA>TGA	p.R171*	TMED3_uc010unj.1_Intron|TMED3_uc002bev.2_RNA	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	transmembrane emp24 domain containing 3	171	Lumenal (Potential).				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				ovary(1)|skin(1)	2						GGACCGGGCCCGAGCAGAAGA	0.572												
IL16	3603	broad.mit.edu	37	15	81591888	81591888	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:81591888A>G	uc002bgh.3	+	14	2597	c.2221A>G	c.(2221-2223)AAT>GAT	p.N741D	IL16_uc010blq.1_Missense_Mutation_p.N695D|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.N783D|IL16_uc002bgg.2_Missense_Mutation_p.N741D|IL16_uc002bgi.1_Missense_Mutation_p.N131D|IL16_uc002bgj.2_Missense_Mutation_p.N235D|IL16_uc002bgk.2_Missense_Mutation_p.N40D|IL16_uc002bgl.1_Missense_Mutation_p.N40D|IL16_uc010unq.1_Missense_Mutation_p.N40D	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	741					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						TCTACAGCCCAATGCCAGCCT	0.522												
MEX3B	84206	broad.mit.edu	37	15	82336304	82336304	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:82336304C>T	uc002bgq.1	-	2	1222	c.907G>A	c.(907-909)GGC>AGC	p.G303S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	mex-3 homolog B	303					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(1)|kidney(1)	2						CTGGTCCCGCCGCCGAAATAA	0.632												
BNC1	646	broad.mit.edu	37	15	83932176	83932176	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:83932176G>A	uc002bjt.1	-	4	1915	c.1827C>T	c.(1825-1827)TGC>TGT	p.C609C	BNC1_uc010uos.1_Silent_p.C597C	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	609					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						ATTCACGATGGCAGGGCCTCT	0.552												
ACAN	176	broad.mit.edu	37	15	89400561	89400561	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:89400561G>A	uc010upo.1	+	12	5119	c.4745G>A	c.(4744-4746)GGA>GAA	p.G1582E	ACAN_uc010upp.1_Missense_Mutation_p.G1582E|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	1582					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCAGCTTCTGGAGCTGAGGAC	0.537												
ACAN	176	broad.mit.edu	37	15	89402303	89402303	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:89402303G>A	uc010upo.1	+	12	6861	c.6487G>A	c.(6487-6489)GCT>ACT	p.A2163T	ACAN_uc010upp.1_Missense_Mutation_p.A2163T|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2163					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGCGTCCGCTGCCCCAGA	0.577												
ABHD2	11057	broad.mit.edu	37	15	89698693	89698693	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:89698693C>T	uc002bnj.2	+	10	1383	c.466C>T	c.(466-468)CGG>TGG	p.R156W	ABHD2_uc002bnk.2_Missense_Mutation_p.R156W	NM_007011	NP_008942	P08910	ABHD2_HUMAN	alpha/beta hydrolase domain containing protein	156						integral to membrane	carboxylesterase activity			ovary(1)|lung(1)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAATGGCTATCGGTGCGCCGT	0.517												
KIF7	374654	broad.mit.edu	37	15	90176438	90176438	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:90176438G>A	uc002bof.2	-	13	2729	c.2652C>T	c.(2650-2652)ATC>ATT	p.I884I	KIF7_uc010upw.1_Silent_p.I370I	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	884	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGAATGCCGCGATCTCTTCCG	0.607												
SV2B	9899	broad.mit.edu	37	15	91835714	91835714	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:91835714G>T	uc002bqv.2	+	12	2375	c.1984G>T	c.(1984-1986)GCT>TCT	p.A662S	SV2B_uc010uqv.1_Missense_Mutation_p.A511S|SV2B_uc002bqu.3_RNA	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	synaptic vesicle protein 2B homolog	662	Helical; (Potential).				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCTGGCTGCTGCTTCTCTGGT	0.498												
ST8SIA2	8128	broad.mit.edu	37	15	92988137	92988137	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:92988137C>T	uc002bra.2	+	5	975	c.820C>T	c.(820-822)CGC>TGC	p.R274C	ST8SIA2_uc002brb.2_Missense_Mutation_p.R253C	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	274	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCCTCGCTGCGCCTGCTGCA	0.627												
IGF1R	3480	broad.mit.edu	37	15	99251056	99251056	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:99251056C>T	uc002bul.2	+	2	410	c.360C>T	c.(358-360)TTC>TTT	p.F120F	IGF1R_uc010urq.1_Silent_p.F120F|IGF1R_uc010bon.2_Silent_p.F120F	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	120					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TGGTCATCTTCGAGATGACCA	0.532												
IGF1R	3480	broad.mit.edu	37	15	99251189	99251189	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:99251189T>A	uc002bul.2	+	2	543	c.493T>A	c.(493-495)TCC>ACC	p.S165T	IGF1R_uc010urq.1_Missense_Mutation_p.S165T|IGF1R_uc010bon.2_Missense_Mutation_p.S165T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	165					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGATGCGGTGTCCAATAACTA	0.527												
TM2D3	80213	broad.mit.edu	37	15	102187098	102187098	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:102187098T>C	uc002bxi.2	-	4	362	c.332A>G	c.(331-333)CAA>CGA	p.Q111R	TM2D3_uc010usg.1_Missense_Mutation_p.Q85R|TM2D3_uc002bxh.2_Missense_Mutation_p.Q46R|TM2D3_uc002bxj.2_Missense_Mutation_p.Q85R|TM2D3_uc002bxk.2_Missense_Mutation_p.Q46R|TM2D3_uc010ush.1_Missense_Mutation_p.Q111R	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3 isoform a	111						integral to membrane				ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGAAGTCTTGATCCTATGT	0.403												
WDR24	84219	broad.mit.edu	37	16	735396	735396	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:735396C>T	uc002ciz.1	-	7	2640	c.1880G>A	c.(1879-1881)CGC>CAC	p.R627H	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	757										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				GGGCGGCAGGCGGCTGTCGTA	0.667												
CHTF18	63922	broad.mit.edu	37	16	840568	840568	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:840568C>A	uc002cke.3	+	7	859	c.796C>A	c.(796-798)CCT>ACT	p.P266T	RPUSD1_uc002cka.2_5'Flank|RPUSD1_uc002ckb.2_5'Flank|RPUSD1_uc002ckc.2_5'Flank|RPUSD1_uc002ckd.2_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.P271H|CHTF18_uc010bre.1_RNA|CHTF18_uc002ckf.3_Missense_Mutation_p.P294T|CHTF18_uc010brf.2_5'UTR|CHTF18_uc002ckg.3_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	266					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.P266L(1)		kidney(1)	1		Hepatocellular(780;0.00335)				CTTGGGGGCCCCTGAGGAGGA	0.637												
GNG13	51764	broad.mit.edu	37	16	849007	849007	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	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	0.597												
C16orf42	115939	broad.mit.edu	37	16	1400977	1400977	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:1400977G>A	uc002cll.2	-	3	425	c.357C>T	c.(355-357)GTC>GTT	p.V119V	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	119					rRNA processing						0		Hepatocellular(780;0.0893)				CGATGACGGCGACCCCAGACT	0.642												
C16orf91	283951	broad.mit.edu	37	16	1470325	1470325	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:1470325C>A	uc002clr.2	-	2	342	c.321G>T	c.(319-321)CAG>CAT	p.Q107H	C16orf91_uc010uvd.1_Missense_Mutation_p.Q264H	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	hypothetical protein LOC283951	107	Cytoplasmic (Potential).					integral to membrane					0						CTCCCCACACCTGTCTCAACC	0.647												
HAGH	3029	broad.mit.edu	37	16	1866996	1866996	+	Splice_Site	SNP	C	C	A	rs113814490		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:1866996C>A	uc002cna.2	-	7	1053	c.646_splice	c.e7-1	p.R216_splice	HAGH_uc002cmz.2_Splice_Site_p.R168_splice|HAGH_uc010uvp.1_Splice_Site_p.Q179_splice|HAGH_uc002cnb.1_Splice_Site_p.R168_splice	NM_005326	NP_005317	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase isoform 1						glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)	AGTAGACTCTCTGAGGAGAGA	0.627												
TBL3	10607	broad.mit.edu	37	16	2025588	2025588	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2025588G>A	uc002cnu.1	+	10	966	c.864G>A	c.(862-864)CCG>CCA	p.P288P	TBL3_uc002cnv.1_Silent_p.P174P|TBL3_uc010bsb.1_Silent_p.P77P|TBL3_uc010bsc.1_Silent_p.P174P|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	transducin beta-like 3	288					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity				0						AGGCCCAGCCGCCGGGCCCTG	0.687												
TSC2	7249	broad.mit.edu	37	16	2120494	2120494	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2120494G>A	uc002con.2	+	17	1860	c.1754G>A	c.(1753-1755)CGT>CAT	p.R585H	TSC2_uc010bsd.2_Missense_Mutation_p.R585H|TSC2_uc002coo.2_Missense_Mutation_p.R585H|TSC2_uc010uvv.1_Missense_Mutation_p.R548H|TSC2_uc010uvw.1_Missense_Mutation_p.R536H|TSC2_uc002cop.2_Missense_Mutation_p.R385H	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	585					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CACGCCACGCGTGTGTATGAG	0.602			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
TSC2	7249	broad.mit.edu	37	16	2124374	2124374	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2124374G>A	uc002con.2	+	22	2635	c.2529G>A	c.(2527-2529)CTG>CTA	p.L843L	TSC2_uc010bsd.2_Silent_p.L843L|TSC2_uc002coo.2_Silent_p.L843L|TSC2_uc010uvv.1_Silent_p.L806L|TSC2_uc010uvw.1_Silent_p.L794L|TSC2_uc002cop.2_Silent_p.L643L	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	843					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				CCGTCCCACTGCTGGAGTTCC	0.622			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis			
PKD1	5310	broad.mit.edu	37	16	2140904	2140904	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2140904A>T	uc002cos.1	-	43	12193	c.11984T>A	c.(11983-11985)CTC>CAC	p.L3995H	PKD1_uc002cot.1_Missense_Mutation_p.L3994H|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	3995	Helical; (Potential).				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						AAGCAGGAAGAGCAGCGAGGC	0.706												
PKD1	5310	broad.mit.edu	37	16	2158371	2158371	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2158371C>T	uc002cos.1	-	15	7006	c.6797G>A	c.(6796-6798)CGC>CAC	p.R2266H	PKD1_uc002cot.1_Missense_Mutation_p.R2266H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	2266	Extracellular (Potential).|REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TGACCACACGCGGTATGAGCC	0.642												
ABCA3	21	broad.mit.edu	37	16	2347360	2347360	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2347360C>A	uc002cpy.1	-	17	2945	c.2233G>T	c.(2233-2235)GGG>TGG	p.G745W	ABCA3_uc010bsk.1_Missense_Mutation_p.G687W|ABCA3_uc010bsl.1_Missense_Mutation_p.G745W	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	745	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				AGCGAGGACCCGCAGCACTGC	0.642												
TBC1D24	57465	broad.mit.edu	37	16	2546162	2546162	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2546162G>T	uc002cql.2	+	2	153	c.13G>T	c.(13-15)GGA>TGA	p.G5*	TBC1D24_uc002cqk.2_Nonsense_Mutation_p.G5*|TBC1D24_uc002cqm.2_Nonsense_Mutation_p.G5*|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	5					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0						GGACTCTCCAGGATACAACTG	0.597												
AMDHD2	51005	broad.mit.edu	37	16	2577787	2577787	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2577787G>T	uc002cqq.2	+	5	526	c.429G>T	c.(427-429)GAG>GAT	p.E143D	AMDHD2_uc002cqp.2_Missense_Mutation_p.E143D|AMDHD2_uc010uwc.1_Missense_Mutation_p.E143D|AMDHD2_uc010uwd.1_Translation_Start_Site	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	143					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4						TGCACCTGGAGGGCCCCTTCA	0.701												
SRRM2	23524	broad.mit.edu	37	16	2811591	2811591	+	Silent	SNP	G	G	A	rs138332398		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2811591G>A	uc002crk.2	+	11	1611	c.1062G>A	c.(1060-1062)CCG>CCA	p.P354P	SRRM2_uc002crj.1_Silent_p.P258P|SRRM2_uc002crl.1_Silent_p.P354P|SRRM2_uc010bsu.1_Silent_p.P258P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	354	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						GCCCCTCTCCGGAAAGGAGCA	0.567												
PRSS33	260429	broad.mit.edu	37	16	2835149	2835149	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2835149G>T	uc002cro.1	-	5	698	c.538C>A	c.(538-540)CTA>ATA	p.L180I	PRSS33_uc002crp.1_Missense_Mutation_p.A89D|PRSS33_uc010uwh.1_Missense_Mutation_p.L180I	NM_152891	NP_690851	Q8NF86	PRS33_HUMAN	protease, serine, 33 precursor	180	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						ACTCCTTGTAGCGGTCGCCAC	0.677												
FLYWCH1	84256	broad.mit.edu	37	16	2983439	2983439	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2983439G>A	uc002csd.2	+	5	1468	c.1105G>A	c.(1105-1107)GTG>ATG	p.V369M	FLYWCH1_uc002csb.2_Missense_Mutation_p.V368M|FLYWCH1_uc002csc.2_Missense_Mutation_p.V368M|FLYWCH1_uc010bsv.2_Missense_Mutation_p.V44M	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	369						nucleus	DNA binding|metal ion binding				0						GCTCCGAGGCGTGGATAGTTT	0.677												
THOC6	79228	broad.mit.edu	37	16	3076568	3076568	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:3076568C>A	uc002ctb.2	+	7	759	c.463C>A	c.(463-465)CTT>ATT	p.L155I	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.L155I|THOC6_uc002ctc.2_Missense_Mutation_p.L131I|THOC6_uc002cta.2_Missense_Mutation_p.L131I	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	WD repeat domain 58 isoform 1	155	WD 3.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			ovary(1)|central_nervous_system(1)	2						CACTATGGACCTTGAAACTGG	0.557												
BTBD12	84464	broad.mit.edu	37	16	3633486	3633486	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:3633486G>A	uc002cvp.2	-	14	5392	c.4765C>T	c.(4765-4767)CGC>TGC	p.R1589C		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1589	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						ACCATCTGGCGTTTAGGCAGA	0.562								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
TRAP1	10131	broad.mit.edu	37	16	3712930	3712930	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:3712930T>C	uc002cvt.3	-	15	1836	c.1747A>G	c.(1747-1749)ATG>GTG	p.M583V	TRAP1_uc002cvs.2_Missense_Mutation_p.M374V|TRAP1_uc010uxf.1_Missense_Mutation_p.M530V|uc002cvu.2_RNA	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	583					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)				ATCCAGGCCATGAGCTCCTCC	0.632												
NUDT16L1	84309	broad.mit.edu	37	16	4745111	4745111	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4745111T>C	uc002cxe.2	+	3	579	c.567T>C	c.(565-567)GTT>GTC	p.V189V	NUDT16L1_uc002cxf.1_3'UTR	NM_032349	NP_115725	Q9BRJ7	SDOS_HUMAN	syndesmos	189	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity				0						AGAAGCTGGTTGAGGCCCTGG	0.622												
C16orf71	146562	broad.mit.edu	37	16	4790235	4790235	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4790235G>A	uc002cxn.2	+	4	820	c.358G>A	c.(358-360)GGA>AGA	p.G120R		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	hypothetical protein LOC146562	120										central_nervous_system(1)	1						CTCTCAGGAAGGAAGAGACCC	0.562												
ZNF500	26048	broad.mit.edu	37	16	4803010	4803010	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4803010C>T	uc002cxp.1	-	6	1057	c.810G>A	c.(808-810)CCG>CCA	p.P270P	ZNF500_uc002cxo.1_Silent_p.P62P|ZNF500_uc010uxt.1_Silent_p.P270P	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	270					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						CCATTCTCAACGGGGCATCCT	0.637												
UBN1	29855	broad.mit.edu	37	16	4925234	4925234	+	Silent	SNP	C	C	T	rs145528581		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:4925234C>T	uc002cyb.2	+	15	3162	c.2823C>T	c.(2821-2823)TCC>TCT	p.S941S	UBN1_uc010uxw.1_Silent_p.S941S|UBN1_uc002cyc.2_Silent_p.S941S	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	941	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.S941S(1)|p.S941F(1)		skin(2)	2						AGCCTCCCTCCGTGGGACAGG	0.582												
A2BP1	54715	broad.mit.edu	37	16	7714948	7714948	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:7714948G>A	uc002cys.2	+	13	1896	c.908G>A	c.(907-909)GGA>GAA	p.G303E	A2BP1_uc002cyt.2_Missense_Mutation_p.G276E|A2BP1_uc010uxz.1_Missense_Mutation_p.G346E|A2BP1_uc010uya.1_Missense_Mutation_p.G260E|A2BP1_uc010uyb.1_Missense_Mutation_p.G303E|A2BP1_uc002cyw.2_Intron|A2BP1_uc002cyy.2_Intron|A2BP1_uc002cyx.2_Intron|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	ataxin 2-binding protein 1 isoform 4	303					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)		TACCAGGATGGATTTTATGGT	0.443												
TEKT5	146279	broad.mit.edu	37	16	10775850	10775850	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:10775850G>A	uc002czz.1	-	4	935	c.863C>T	c.(862-864)ACG>ATG	p.T288M		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	tektin 5	288					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2						TGATACTTACGTGCCGTCAAT	0.537												
SNN	8303	broad.mit.edu	37	16	11770033	11770033	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:11770033C>T	uc002dbf.2	+	2	299	c.118C>T	c.(118-120)CGC>TGC	p.R40C		NM_003498	NP_003489	O75324	SNN_HUMAN	Stannin	40	Cytoplasmic.				response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane					0						GCGGCTGCAGCGCATCAGCCA	0.647												
NPIP	9284	broad.mit.edu	37	16	15045841	15045841	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:15045841C>T	uc002dcy.3	+	8	1012	c.1012C>T	c.(1012-1014)CTC>TTC	p.L338F	NPIP_uc002dcx.3_RNA	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN	nuclear pore complex interacting protein	338	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0						TGTCTGCTCACTCCCCTTCCA	0.443												
PDXDC1	23042	broad.mit.edu	37	16	15110036	15110036	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:15110036T>G	uc002dda.3	+	9	1002	c.778T>G	c.(778-780)TGT>GGT	p.C260G	PDXDC1_uc010uzl.1_Missense_Mutation_p.C245G|PDXDC1_uc010uzm.1_Missense_Mutation_p.C169G|PDXDC1_uc002dcz.2_Missense_Mutation_p.C237G|PDXDC1_uc002ddb.3_Missense_Mutation_p.C233G|PDXDC1_uc010uzn.1_Missense_Mutation_p.C232G|PDXDC1_uc002ddc.2_Missense_Mutation_p.C260G	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	260					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	GAAAGAACTCTGTGAGCAGTA	0.498												
MYH11	4629	broad.mit.edu	37	16	15811203	15811203	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:15811203G>A	uc002ddy.2	-	38	5405	c.5298C>T	c.(5296-5298)GCC>GCT	p.A1766A	MYH11_uc002ddv.2_Silent_p.A1773A|MYH11_uc002ddw.2_Silent_p.A1766A|MYH11_uc002ddx.2_Silent_p.A1773A|MYH11_uc010bvg.2_Silent_p.A1598A|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.A472A	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1766	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TGAGCTGCTCGGCCTGGGGAG	0.637			T	CBFB	AML							
ABCC1	4363	broad.mit.edu	37	16	16232232	16232232	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:16232232G>A	uc010bvi.2	+	30	4479	c.4304G>A	c.(4303-4305)CGC>CAC	p.R1435H	ABCC1_uc010bvj.2_Missense_Mutation_p.R1376H|ABCC1_uc010bvk.2_Missense_Mutation_p.R1379H|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Missense_Mutation_p.R1320H|ABCC1_uc002del.3_Missense_Mutation_p.R1329H	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	1435	ABC transporter 2.|Cytoplasmic.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCGGGCAGCGCCAGCTTGTG	0.592												
SMG1	23049	broad.mit.edu	37	16	18858833	18858833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:18858833G>A	uc002dfm.2	-	38	6301	c.5938C>T	c.(5938-5940)CGA>TGA	p.R1980*	SMG1_uc010bwb.2_Nonsense_Mutation_p.R1840*|SMG1_uc010bwa.2_Nonsense_Mutation_p.R711*|SMG1_uc002dfo.3_Nonsense_Mutation_p.R278*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1980					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						TGCTGAATTCGTCTCAGGACA	0.507												
SYT17	51760	broad.mit.edu	37	16	19194968	19194968	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:19194968C>T	uc002dfw.2	+	5	781	c.450C>T	c.(448-450)CCC>CCT	p.P150P	SYT17_uc002dfx.2_Silent_p.P89P|SYT17_uc002dfy.2_Silent_p.P146P|SYT17_uc002dfv.1_Silent_p.P89P	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	150						membrane|synaptic vesicle	transporter activity			ovary(1)	1						CCTATAACCCCGACGACTATT	0.542												
C16orf62	57020	broad.mit.edu	37	16	19580847	19580847	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:19580847C>T	uc002dgn.1	+	3	231	c.219C>T	c.(217-219)CTC>CTT	p.L73L	C16orf62_uc002dgo.1_Silent_p.L73L|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Silent_p.L73L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020	73						integral to membrane				ovary(1)	1						GCAGCGTCCTCGATGGGACTG	0.602												
UMOD	7369	broad.mit.edu	37	16	20357561	20357561	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:20357561C>T	uc002dgz.2	-	5	1198	c.1069G>A	c.(1069-1071)GTC>ATC	p.V357I	UMOD_uc002dha.2_Missense_Mutation_p.V357I|UMOD_uc002dhb.2_Missense_Mutation_p.V390I	NM_003361	NP_003352	P07911	UROM_HUMAN	uromodulin precursor	357	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			ovary(1)|skin(1)	2						TACATGAAGACCTTGTCGAAG	0.587												
DNAH3	55567	broad.mit.edu	37	16	21147818	21147818	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:21147818A>G	uc010vbe.1	-	6	713	c.713T>C	c.(712-714)CTG>CCG	p.L238P	DNAH3_uc002die.2_Missense_Mutation_p.L209P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	238	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)		TCCATTGGTCAGATAGTAATA	0.473												
METTL9	51108	broad.mit.edu	37	16	21623995	21623995	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:21623995C>T	uc002dje.2	+	2	394	c.195C>T	c.(193-195)TGC>TGT	p.C65C	uc002diq.3_Intron|METTL9_uc002djf.2_Silent_p.C65C	NM_016025	NP_057109	Q9H1A3	METL9_HUMAN	methyltransferase like 9 isoform 1	65										ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)		AGAAATTATGCGAATCACTCC	0.338												
CDR2	1039	broad.mit.edu	37	16	22358598	22358598	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:22358598C>T	uc002dkn.2	-	5	1361	c.1053G>A	c.(1051-1053)ACG>ACA	p.T351T		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	351	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		CGCTGTACTGCGTGTCCACTT	0.577												
USP31	57478	broad.mit.edu	37	16	23080440	23080440	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23080440C>T	uc002dll.2	-	16	2986	c.2986G>A	c.(2986-2988)GAC>AAC	p.D996N	USP31_uc002dlk.2_Missense_Mutation_p.D268N|USP31_uc010vca.1_Missense_Mutation_p.D299N|USP31_uc010bxm.2_Missense_Mutation_p.D284N	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	996	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TCTACGGAGTCGCTCTGATCC	0.527												
SCNN1B	6338	broad.mit.edu	37	16	23391462	23391462	+	Missense_Mutation	SNP	G	G	A	rs138784278		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23391462G>A	uc002dln.2	+	12	1690	c.1514G>A	c.(1513-1515)CGC>CAC	p.R505H		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	505	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TTTAACTATCGCACCATTGAA	0.527												
PLK1	5347	broad.mit.edu	37	16	23700888	23700888	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23700888G>A	uc002dlz.1	+	9	1552	c.1499G>A	c.(1498-1500)CGC>CAC	p.R500H		NM_005030	NP_005021	P53350	PLK1_HUMAN	polo-like kinase 1	500	Linker.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			lung(1)|skin(1)	2				GBM - Glioblastoma multiforme(48;0.0156)		ATCACGCCGCGCGAAGGTGAT	0.577												
SLC5A11	115584	broad.mit.edu	37	16	24920325	24920325	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:24920325C>T	uc002dmu.2	+	14	1790	c.1558C>T	c.(1558-1560)CAC>TAC	p.H520Y	SLC5A11_uc002dms.2_Missense_Mutation_p.H456Y|SLC5A11_uc010vcd.1_Missense_Mutation_p.H485Y|SLC5A11_uc002dmt.2_Missense_Mutation_p.H364Y|SLC5A11_uc010vce.1_Missense_Mutation_p.H450Y|SLC5A11_uc010bxt.2_Missense_Mutation_p.H456Y|SLC5A11_uc002dmv.2_Missense_Mutation_p.H143Y	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/glucose	520	Extracellular (Potential).				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0365)		GAAGAGCATTCACTACCTCTA	0.567												
IL21R	50615	broad.mit.edu	37	16	27448866	27448866	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:27448866G>A	uc002doq.1	+	4	443	c.210G>A	c.(208-210)TCG>TCA	p.S70S	IL21R_uc002dor.1_Silent_p.S70S|IL21R_uc002dos.1_Silent_p.S70S	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	70	Extracellular (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4						TCCACAGGTCGGCCCACAATG	0.567			T	BCL6	NHL							
GSG1L	146395	broad.mit.edu	37	16	27974491	27974491	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:27974491G>A	uc002doz.2	-	2	468	c.383C>T	c.(382-384)CCG>CTG	p.P128L	GSG1L_uc010bya.1_Missense_Mutation_p.P128L	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN	GSG1-like isoform 1	128						integral to membrane				ovary(1)	1						CTCCGATGCCGGGGCCAGGTC	0.547												
XPO6	23214	broad.mit.edu	37	16	28133060	28133060	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28133060C>T	uc002dpa.1	-	14	2291	c.1790G>A	c.(1789-1791)GGA>GAA	p.G597E	XPO6_uc002dpb.1_Missense_Mutation_p.G583E|XPO6_uc010vcp.1_Missense_Mutation_p.G597E	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	exportin 6	597					protein export from nucleus		protein binding|protein transporter activity			ovary(1)|skin(1)	2						TATCTGAGATCCGTACAGAGT	0.398												
CLN3	1201	broad.mit.edu	37	16	28488849	28488849	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28488849G>A	uc002dpo.2	-	15	1628	c.1305C>T	c.(1303-1305)TGC>TGT	p.C435C	uc010vct.1_Intron|CLN3_uc002dpl.2_Silent_p.C357C|CLN3_uc010vcu.1_Silent_p.C335C|CLN3_uc002dpn.2_Silent_p.C336C|CLN3_uc002dpm.2_Silent_p.C381C|CLN3_uc010vcv.1_Silent_p.C411C|CLN3_uc010byd.2_Silent_p.C338C|CLN3_uc002dpp.2_Silent_p.C435C|CLN3_uc002dpt.1_Silent_p.C335C|CLN3_uc002dpq.1_Silent_p.C387C|CLN3_uc010bye.1_Silent_p.C418C|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Silent_p.C308C|CLN3_uc002dpu.1_Silent_p.C333C	NM_000086	NP_000077	Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	435					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding				0						AGGAGAGCTGGCAGAGGAAGT	0.612												
ATP2A1	487	broad.mit.edu	37	16	28906196	28906196	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28906196C>A	uc002dro.1	+	12	1525	c.1341C>A	c.(1339-1341)ACC>ACA	p.T447T	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.T447T|ATP2A1_uc002drp.1_Silent_p.T322T	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	447	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CACTCACCACCCTGGTGGAGA	0.602												
NFATC2IP	84901	broad.mit.edu	37	16	28975083	28975083	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:28975083C>T	uc002dru.2	+	8	1174	c.1159C>T	c.(1159-1161)CGG>TGG	p.R387W	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.R108W|NFATC2IP_uc002drv.2_Missense_Mutation_p.R106W|NFATC2IP_uc010vdh.1_Missense_Mutation_p.R95W	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	387	Ubiquitin-like.					cytoplasm|nucleus				ovary(1)	1						ACTGTCGGGACGGAAGCTCTC	0.542												
CORO1A	11151	broad.mit.edu	37	16	30196549	30196549	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30196549C>T	uc002dww.2	+	2	141	c.19C>T	c.(19-21)CGC>TGC	p.R7C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.1_Missense_Mutation_p.R7C|CORO1A_uc010bzq.2_Missense_Mutation_p.R7C|CORO1A_uc010bzr.2_Missense_Mutation_p.R7C|CORO1A_uc002dwx.2_5'UTR|CORO1A_uc002dwy.1_5'Flank	NM_007074	NP_009005	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	7					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity				0						GCAGGTGGTCCGCTCCAGCAA	0.602												
ZNF48	197407	broad.mit.edu	37	16	30409115	30409115	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30409115C>T	uc002dya.1	+	2	603	c.544C>T	c.(544-546)CGG>TGG	p.R182W	ZNF48_uc002dxz.1_Missense_Mutation_p.R59W	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAAGATTCCTCGGTCCCGGAT	0.602												
ZNF785	146540	broad.mit.edu	37	16	30593992	30593992	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30593992G>A	uc002dyw.1	-	3	1185	c.1107C>T	c.(1105-1107)CGC>CGT	p.R369R	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Silent_p.R354R|ZNF785_uc010vez.1_Silent_p.R334R	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTGCCACGCGCGCCTCTCGC	0.627												
ZNF785	146540	broad.mit.edu	37	16	30596523	30596523	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30596523A>G	uc002dyw.1	-	2	332	c.254T>C	c.(253-255)GTG>GCG	p.V85A	ZNF785_uc002dyv.1_Missense_Mutation_p.V85A|ZNF785_uc010vez.1_Missense_Mutation_p.V50A	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CCACGCCTCCACTTCTCCTTC	0.572												
RNF40	9810	broad.mit.edu	37	16	30777709	30777709	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30777709C>T	uc002dzq.2	+	10	1246	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W	RNF40_uc010caa.2_Missense_Mutation_p.R375W|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.R375W|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	375	Potential.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			GGTGGCCCTGCGGAGCCTTCC	0.612												
SETD1A	9739	broad.mit.edu	37	16	30975995	30975995	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30975995G>A	uc002ead.1	+	7	1618	c.932G>A	c.(931-933)CGC>CAC	p.R311H		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	311	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3						GCCTTTTCCCGCCGCCACTTC	0.517												
ZNF646	9726	broad.mit.edu	37	16	31087907	31087907	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31087907A>G	uc002eap.2	+	2	551	c.262A>G	c.(262-264)ATG>GTG	p.M88V	ZNF668_uc002eao.2_5'Flank	NM_014699	NP_055514	O15015	ZN646_HUMAN	zinc finger protein 646	88	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(2)	2						CTCCAATCCCATGGCTCTCAA	0.637												
ZNF267	10308	broad.mit.edu	37	16	31927101	31927101	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31927101C>T	uc002ecs.3	+	4	1740	c.1531C>T	c.(1531-1533)CGG>TGG	p.R511W		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	511	C2H2-type 7.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						TACTCAACATCGGAAAATTCA	0.343												
ZNF423	23090	broad.mit.edu	37	16	49671250	49671250	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:49671250G>T	uc002efs.2	-	5	2111	c.1813C>A	c.(1813-1815)CCA>ACA	p.P605T	ZNF423_uc010vgn.1_Missense_Mutation_p.P488T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	605					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GACGAGACTGGGCTCTGCTCG	0.562												
ZNF423	23090	broad.mit.edu	37	16	49764836	49764836	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:49764836C>T	uc002efs.2	-	4	421	c.123G>A	c.(121-123)GCG>GCA	p.A41A		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	41					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGTCTTCCAGCGCACGGCTGG	0.512												
ADCY7	113	broad.mit.edu	37	16	50348306	50348306	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:50348306G>A	uc002egd.1	+	23	3228	c.2960G>A	c.(2959-2961)CGC>CAC	p.R987H		NM_001114	NP_001105	P51828	ADCY7_HUMAN	adenylate cyclase 7	987	Cytoplasmic (Potential).|Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			skin(1)	1		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AACTCCTTCCGCCTCCGCGTC	0.632												
SALL1	6299	broad.mit.edu	37	16	51171055	51171055	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:51171055C>T	uc010vgs.1	-	3	3974	c.3943G>A	c.(3943-3945)GTG>ATG	p.V1315M	SALL1_uc010vgr.1_Missense_Mutation_p.V1218M|SALL1_uc010cbv.2_Missense_Mutation_p.V167M	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1315					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTGTCCTCCACGAAGCGGGTG	0.567												
SALL1	6299	broad.mit.edu	37	16	51173598	51173598	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:51173598G>A	uc010vgs.1	-	2	2566	c.2535C>T	c.(2533-2535)GAC>GAT	p.D845D	SALL1_uc010vgr.1_Silent_p.D748D|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	845					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTGGGAGGCGTCTGCAGACT	0.483												
AKTIP	64400	broad.mit.edu	37	16	53528485	53528485	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:53528485C>T	uc002ehk.2	-	6	658	c.447G>A	c.(445-447)CCG>CCA	p.P149P	AKTIP_uc002ehl.2_Silent_p.P149P|AKTIP_uc002ehm.2_Silent_p.P149P	NM_001012398	NP_001012398	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	149					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding				0		all_cancers(37;0.14)				GATCAACTAGCGGGTGAAAGA	0.413												
LPCAT2	54947	broad.mit.edu	37	16	55584912	55584912	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:55584912G>A	uc002eie.3	+	11	1294	c.1113G>A	c.(1111-1113)GCG>GCA	p.A371A	LPCAT2_uc002eic.2_Silent_p.A101A	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371	Lumenal (Potential).				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding				0						CATCTATTGCGAGTTCCTCAA	0.348												
CES7	221223	broad.mit.edu	37	16	55907790	55907790	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:55907790G>A	uc002eip.2	-	2	382	c.233C>T	c.(232-234)GCA>GTA	p.A78V	CES7_uc002eio.2_Missense_Mutation_p.A78V|CES7_uc002eiq.2_5'UTR|CES7_uc002eir.2_5'UTR	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	78						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		CCAGGGCGATGCAGGCTGCGG	0.592												
CCDC102A	92922	broad.mit.edu	37	16	57552039	57552039	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:57552039C>T	uc002elw.2	-	6	1402	c.1189G>A	c.(1189-1191)GCC>ACC	p.A397T		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	397										ovary(1)	1						AGTGCGCTGGCTGTTTGCCGC	0.677												
CNGB1	1258	broad.mit.edu	37	16	57965635	57965635	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:57965635G>A	uc002emt.2	-	17	1585	c.1520C>T	c.(1519-1521)GCC>GTC	p.A507V	CNGB1_uc010cdh.2_Missense_Mutation_p.A501V	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	507	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						TGTCCCCGAGGCTGAGCTTGG	0.423												
PRSS54	221191	broad.mit.edu	37	16	58314489	58314489	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:58314489G>A	uc002enf.2	-	7	1222	c.827C>T	c.(826-828)TCC>TTC	p.S276F	PRSS54_uc002eng.2_Missense_Mutation_p.S276F|PRSS54_uc010vie.1_Missense_Mutation_p.S177F|CCDC113_uc002ene.2_3'UTR|CCDC113_uc010vid.1_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	276					proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						GTGGAGTGAGGACAGGGGAGG	0.522												
CDH8	1006	broad.mit.edu	37	16	61689414	61689414	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:61689414G>A	uc002eog.1	-	11	2118	c.1866C>T	c.(1864-1866)GGC>GGT	p.G622G		NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	622	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAATTAAGGCGCCCATACTGA	0.448												
DYNC1LI2	1783	broad.mit.edu	37	16	66783190	66783190	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:66783190G>T	uc002eqb.1	-	3	239	c.208C>A	c.(208-210)CTC>ATC	p.L70I	DYNC1LI2_uc010vis.1_Missense_Mutation_p.L70I|DYNC1LI2_uc010vit.1_Missense_Mutation_p.L70I|DYNC1LI2_uc010viu.1_Intron	NM_006141	NP_006132	O43237	DC1L2_HUMAN	dynein, cytoplasmic, light intermediate	70					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTAGTCATGAGGGTTGTTTTA	0.463												
HSF4	3299	broad.mit.edu	37	16	67200492	67200492	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67200492C>T	uc002erl.1	+	8	1558	c.593C>T	c.(592-594)GCG>GTG	p.A198V	HSF4_uc002erm.1_Missense_Mutation_p.A198V|HSF4_uc002ern.1_RNA|HSF4_uc010cec.1_RNA	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4 isoform b	198	Hydrophobic repeat HR-A/B.				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCACTTCAGGCGGGGCCGAGC	0.562												
ZDHHC1	29800	broad.mit.edu	37	16	67428950	67428950	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67428950G>A	uc010vjm.1	-	10	1489	c.1185C>T	c.(1183-1185)GGC>GGT	p.G395G	TPPP3_uc002eta.2_5'Flank|TPPP3_uc002etb.2_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	395						integral to membrane	DNA binding|zinc ion binding				0		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTATACACGCGCCTCTTCCTC	0.622												
RLTPR	146206	broad.mit.edu	37	16	67679931	67679931	+	Missense_Mutation	SNP	C	C	T	rs145651592	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67679931C>T	uc002etn.2	+	4	317	c.197C>T	c.(196-198)ACG>ATG	p.T66M	RLTPR_uc010cel.1_Missense_Mutation_p.T66M|RLTPR_uc010vjr.1_Missense_Mutation_p.T66M	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	66	LRR 1.									breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGGACTGCACGTTCAGCTAC	0.627												
C16orf48	84080	broad.mit.edu	37	16	67697911	67697911	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67697911G>A	uc002etw.1	-	4	791	c.508C>T	c.(508-510)CGC>TGC	p.R170C	C16orf48_uc002etv.1_Missense_Mutation_p.R52C|C16orf48_uc010cem.1_Missense_Mutation_p.R170C|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	170						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGCCGCAGCGGGAGTGCGCC	0.662												
CENPT	80152	broad.mit.edu	37	16	67865769	67865769	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:67865769G>A	uc002eun.3	-	8	960	c.411C>T	c.(409-411)CTC>CTT	p.L137L	CENPT_uc002eum.3_Silent_p.L137L|CENPT_uc010vkc.1_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Silent_p.L34L	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	centromere protein T	137					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding				0		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGGGGGGCTCGAGCTCAGGAA	0.577												
DDX28	55794	broad.mit.edu	37	16	68055915	68055915	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68055915T>C	uc002evh.1	-	1	2045	c.1191A>G	c.(1189-1191)TCA>TCG	p.S397S	DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	397	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		GAACAGTTCCTGAGGGACCAG	0.493												
ESRP2	80004	broad.mit.edu	37	16	68266193	68266193	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68266193T>C	uc010cfa.1	-	9	1173	c.985_splice	c.e9-1	p.V329_splice	ESRP2_uc002evp.1_Splice_Site|ESRP2_uc002evq.1_Splice_Site_p.V319_splice	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	RNA binding motif protein 35B						mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			ovary(1)	1						TTTATACACCTGTGGGTACAG	0.567												
HAS3	3038	broad.mit.edu	37	16	69143820	69143820	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:69143820G>A	uc010cfh.2	+	2	746	c.522G>A	c.(520-522)GTG>GTA	p.V174V	HAS3_uc002ewk.2_Silent_p.V174V|HAS3_uc010vlk.1_Silent_p.V174V|HAS3_uc002ewl.2_Silent_p.V174V	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	174	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGGACCGTGTGCGGGATGTGG	0.657												
COG8	84342	broad.mit.edu	37	16	69373130	69373130	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:69373130G>T	uc002ewy.2	-	1	397	c.326C>A	c.(325-327)GCG>GAG	p.A109E	COG8_uc002ewz.3_Missense_Mutation_p.A109E|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	109					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						GCCGAGCGACGCCTCCACGTC	0.627												
TERF2	7014	broad.mit.edu	37	16	69401095	69401095	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:69401095G>A	uc002exd.2	-	7	954	c.829C>T	c.(829-831)CGG>TGG	p.R277W		NM_005652	NP_005643	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	277					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			lung(1)	1		Ovarian(137;0.101)				GGAGGATTCCGTAGCTGCCTG	0.443												
COG4	25839	broad.mit.edu	37	16	70514956	70514956	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:70514956C>T	uc002ezc.2	-	19	2338	c.2327G>A	c.(2326-2328)CGG>CAG	p.R776Q	COG4_uc002eza.2_Missense_Mutation_p.R113Q|COG4_uc002ezb.2_Missense_Mutation_p.R232Q|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.R755Q|COG4_uc002eze.2_Missense_Mutation_p.R470Q	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	772	E domain; essential for proper cell surface glycosylation.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				GAAGTCTATCCGCAGGGCCAG	0.612												
CHST4	10164	broad.mit.edu	37	16	71571193	71571193	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:71571193C>T	uc002fan.2	+	2	794	c.613C>T	c.(613-615)CGG>TGG	p.R205W	CHST4_uc002fao.2_Missense_Mutation_p.R205W	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	205	Lumenal (Potential).|PAPS (By similarity).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCACCTGGTCCGGGACCCCCG	0.577												
ZNF821	55565	broad.mit.edu	37	16	71894324	71894324	+	Missense_Mutation	SNP	G	G	A	rs149068810	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:71894324G>A	uc010vmj.1	-	7	1212	c.836C>T	c.(835-837)ACG>ATG	p.T279M	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.2_Missense_Mutation_p.T129M|ZNF821_uc002fbf.2_Missense_Mutation_p.T237M|ZNF821_uc002fbg.3_Missense_Mutation_p.T129M|ZNF821_uc002fbh.3_Missense_Mutation_p.T237M|ZNF821_uc002fbi.3_Missense_Mutation_p.T76M	NM_017530	NP_060000	O75541	ZN821_HUMAN	zinc finger protein 821	279	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTCTTGGCCGTGCGCTCTCG	0.622												
ZFHX3	463	broad.mit.edu	37	16	72821567	72821567	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:72821567G>A	uc002fck.2	-	10	11281	c.10608C>T	c.(10606-10608)AGC>AGT	p.S3536S	uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.S2622S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3536	C2H2-type 22.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				CACAGAGCGCGCTCTCGCACG	0.393												
ZFHX3	463	broad.mit.edu	37	16	72822036	72822036	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:72822036T>C	uc002fck.2	-	10	10812	c.10139A>G	c.(10138-10140)CAG>CGG	p.Q3380R	ZFHX3_uc002fcl.2_Missense_Mutation_p.Q2466R	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3380	Poly-Gln.		Missing.		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				tagttgccgctgctgctgctg	0.433												
ZFHX3	463	broad.mit.edu	37	16	72827364	72827364	+	Missense_Mutation	SNP	G	G	A	rs149453115		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:72827364G>A	uc002fck.2	-	9	9890	c.9217C>T	c.(9217-9219)CGT>TGT	p.R3073C	ZFHX3_uc002fcl.2_Missense_Mutation_p.R2159C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3073					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				ATCAACTGACGTACGGTGGCT	0.488												
CLEC18B	497190	broad.mit.edu	37	16	74444925	74444925	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:74444925C>T	uc002fct.2	-	9	1192	c.992G>A	c.(991-993)GGC>GAC	p.G331D	CLEC18B_uc002fcu.2_Missense_Mutation_p.G331D|CLEC18B_uc010vmu.1_3'UTR	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	331	C-type lectin.					extracellular region	sugar binding				0						CAGCACCCCGCCTTTCCTCTG	0.612												
FA2H	79152	broad.mit.edu	37	16	74760135	74760135	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:74760135A>G	uc002fde.1	-	4	669	c.601T>C	c.(601-603)TCA>CCA	p.S201P	FA2H_uc010vmy.1_Intron	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	201					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity				0						GTTGTAAATGACGTGAAGAGT	0.547												
BCAR1	9564	broad.mit.edu	37	16	75269703	75269703	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:75269703G>A	uc002fdv.2	-	5	1217	c.1094C>T	c.(1093-1095)CCG>CTG	p.P365L	BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Missense_Mutation_p.P155L|BCAR1_uc010cgu.2_Missense_Mutation_p.P354L|BCAR1_uc010vna.1_Missense_Mutation_p.P363L|BCAR1_uc010vnb.1_Missense_Mutation_p.P411L|BCAR1_uc002fdw.2_Missense_Mutation_p.P365L|BCAR1_uc010vnc.1_Missense_Mutation_p.P217L|BCAR1_uc010vnd.1_Missense_Mutation_p.P383L|BCAR1_uc002fdx.2_Missense_Mutation_p.P383L	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	365	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCGGGGGCGGCACGTCATA	0.716												
CHST6	4166	broad.mit.edu	37	16	75513514	75513514	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:75513514C>T	uc002fef.2	-	3	393	c.213G>A	c.(211-213)GAG>GAA	p.E71E	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.E71E	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	71	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GCCACGCGGGCTCCATTAGGT	0.667												
CNTNAP4	85445	broad.mit.edu	37	16	76573711	76573711	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:76573711A>G	uc002feu.1	+	22	3701	c.3316A>G	c.(3316-3318)ATA>GTA	p.I1106V	CNTNAP4_uc002fev.1_Missense_Mutation_p.I970V|CNTNAP4_uc010chb.1_Missense_Mutation_p.I1033V|CNTNAP4_uc002fex.1_Missense_Mutation_p.I1109V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	1106	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2						ACTTCACCACATAATGATTAA	0.348												
ATMIN	23300	broad.mit.edu	37	16	81078356	81078356	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:81078356A>G	uc002ffz.1	+	4	2271	c.2253A>G	c.(2251-2253)ATA>ATG	p.I751M	ATMIN_uc002fga.2_Missense_Mutation_p.I593M|ATMIN_uc010vnn.1_Missense_Mutation_p.I522M|ATMIN_uc002fgb.1_Missense_Mutation_p.I593M	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	751					response to DNA damage stimulus	nucleus	zinc ion binding				0						CTAAAAATATACCTGCTCTAG	0.448												
CMIP	80790	broad.mit.edu	37	16	81712200	81712200	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:81712200C>T	uc002fgp.2	+	10	1427	c.1355C>T	c.(1354-1356)ACG>ATG	p.T452M	CMIP_uc002fgq.1_Missense_Mutation_p.T358M|CMIP_uc010vnq.1_Missense_Mutation_p.T265M|CMIP_uc002fgr.1_Missense_Mutation_p.T299M	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	418						cytoplasm|nucleus					0						GCCGACCGCACGCTCGGCTGC	0.547												
KCNG4	93107	broad.mit.edu	37	16	84256290	84256290	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:84256290G>A	uc010voc.1	-	3	1214	c.1093C>T	c.(1093-1095)CGC>TGC	p.R365C		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G,	365	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)	3						GTGCAACGGCGCACGGTGAGC	0.677												
FOXF1	2294	broad.mit.edu	37	16	86544707	86544707	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:86544707G>A	uc002fjl.2	+	1	575	c.532G>A	c.(532-534)GGC>AGC	p.G178S	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	178					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						CTCGGCCGGCGGCCTCTCGTG	0.682												
FBXO31	79791	broad.mit.edu	37	16	87364948	87364948	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:87364948C>T	uc002fjw.2	-	9	1610	c.1566G>A	c.(1564-1566)CCG>CCA	p.P522P	FBXO31_uc010vot.1_Silent_p.P350P|FBXO31_uc002fjv.2_Silent_p.P414P	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	F-box protein 31	522					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCTGTGGGGACGGCGCATCTG	0.622												
ZCCHC14	23174	broad.mit.edu	37	16	87445990	87445990	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:87445990C>T	uc002fjz.1	-	12	1953	c.1926G>A	c.(1924-1926)TCG>TCA	p.S642S	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.S418S	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	642					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GAACAGATGACGACAGCAGCA	0.592												
ANKRD11	29123	broad.mit.edu	37	16	89354947	89354947	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:89354947C>T	uc002fmx.1	-	7	1194	c.733G>A	c.(733-735)GGG>AGG	p.G245R	ANKRD11_uc002fmy.1_Missense_Mutation_p.G245R|ANKRD11_uc002fnc.1_Missense_Mutation_p.G245R|ANKRD11_uc002fnd.2_Missense_Mutation_p.G211R|ANKRD11_uc002fne.2_Missense_Mutation_p.G211R|ANKRD11_uc002fnb.1_Missense_Mutation_p.G202R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	245	ANK 3.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGTAGTGCCCGTTGTTGGCA	0.602												
SPIRE2	84501	broad.mit.edu	37	16	89916879	89916879	+	Silent	SNP	C	C	T	rs146569219	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:89916879C>T	uc002foz.1	+	3	508	c.456C>T	c.(454-456)CCC>CCT	p.P152P	SPIRE2_uc010civ.1_Silent_p.P67P|SPIRE2_uc010ciw.1_Silent_p.P152P|SPIRE2_uc002fpa.1_Silent_p.P104P|SPIRE2_uc010cix.1_Silent_p.P21P	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	152	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGG	0.731												
FAM101B	359845	broad.mit.edu	37	17	292996	292996	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:292996C>T	uc002frj.2	-	2	668	c.394G>A	c.(394-396)GCG>ACG	p.A132T		NM_182705	NP_874364	Q8N5W9	F101B_HUMAN	hypothetical protein LOC359845	202											0		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		GGGAGCTCCGCGGCTTCGAGC	0.657												
MYO1C	4641	broad.mit.edu	37	17	1370578	1370578	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1370578C>T	uc002fsp.2	-	31	3343	c.3123G>A	c.(3121-3123)TCG>TCA	p.S1041S	MYO1C_uc002fsn.2_Silent_p.S1022S|MYO1C_uc002fso.2_Silent_p.S1006S	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	1041					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGAGCAGCTCCGAGCCGGGTG	0.627												
PRPF8	10594	broad.mit.edu	37	17	1580395	1580395	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1580395G>A	uc002fte.2	-	15	2170	c.2056C>T	c.(2056-2058)CGG>TGG	p.R686W		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	686						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACAGCTGCCCGCAGCTCAAGG	0.542												
SERPINF2	5345	broad.mit.edu	37	17	1657536	1657536	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1657536C>T	uc002ftk.1	+	10	1261	c.1184C>T	c.(1183-1185)GCG>GTG	p.A395V	SERPINF2_uc010vqr.1_Missense_Mutation_p.A331V	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	395					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GAGGCGGCGGCGGCCACCAGC	0.662												
SERPINF1	5176	broad.mit.edu	37	17	1673293	1673293	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1673293G>A	uc002ftl.2	+	3	389	c.232G>A	c.(232-234)GTG>ATG	p.V78M	SERPINF1_uc010cjw.2_Intron	NM_002615	NP_002606	P36955	PEDF_HUMAN	serine (or cysteine) proteinase inhibitor, clade	78					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			ovary(1)	1						CACGACCAACGTGCTCCTGTC	0.632												
HIC1	3090	broad.mit.edu	37	17	1961293	1961293	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:1961293G>A	uc010cjy.2	+	2	1366	c.1366G>A	c.(1366-1368)GTG>ATG	p.V456M	HIC1_uc002fty.3_Missense_Mutation_p.V437M|HIC1_uc002ftz.3_Missense_Mutation_p.V437M	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN	hypermethylated in cancer 1 isoform 2	456	C2H2-type 1.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)	1				READ - Rectum adenocarcinoma(1115;0.236)		GAACGCGCACGTGGAGGCTCA	0.692												
CAMKK1	84254	broad.mit.edu	37	17	3789008	3789008	+	Translation_Start_Site	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:3789008G>A	uc002fwt.2	-	2	68	c.-26C>T	c.(-28--24)TACGC>TATGC		CAMKK1_uc002fwu.2_Translation_Start_Site|CAMKK1_uc002fwv.2_Translation_Start_Site	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase 1						synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTTCTTCTGCGTAGCCTTGTT	0.572												
MINK1	50488	broad.mit.edu	37	17	4790892	4790892	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4790892C>A	uc010vsl.1	+	12	1233	c.1037C>A	c.(1036-1038)CCT>CAT	p.P346H	MINK1_uc010vsk.1_Missense_Mutation_p.P346H|MINK1_uc010vsm.1_Missense_Mutation_p.P346H|MINK1_uc010vsn.1_Missense_Mutation_p.P346H|MINK1_uc010vso.1_Missense_Mutation_p.P291H|MINK1_uc010vsp.1_Translation_Start_Site	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	346					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						ATGAACGTGCCTGGAGAGTCG	0.502												
MINK1	50488	broad.mit.edu	37	17	4795504	4795504	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4795504C>T	uc010vsl.1	+	17	2258	c.2062C>T	c.(2062-2064)CGG>TGG	p.R688W	MINK1_uc010vsk.1_Missense_Mutation_p.R688W|MINK1_uc010vsm.1_Missense_Mutation_p.R668W|MINK1_uc010vsn.1_Missense_Mutation_p.R688W|MINK1_uc010vso.1_Missense_Mutation_p.R633W|MINK1_uc010vsp.1_Missense_Mutation_p.R178W	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	688					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						CGGAGGGTCCCGGCCAGCCCA	0.652												
ENO3	2027	broad.mit.edu	37	17	4858836	4858836	+	Missense_Mutation	SNP	G	G	A	rs149301373		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4858836G>A	uc002gab.3	+	8	896	c.802G>A	c.(802-804)GCA>ACA	p.A268T	ENO3_uc010vsr.1_Missense_Mutation_p.A175T|ENO3_uc002gac.3_Missense_Mutation_p.A268T|ENO3_uc010vss.1_Missense_Mutation_p.A225T|ENO3_uc010vst.1_Missense_Mutation_p.A104T	NM_053013	NP_443739	P13929	ENOB_HUMAN	enolase 3	268					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			ovary(1)	1						TGATGATCCCGCACGGCACAT	0.527												
PITPNM3	83394	broad.mit.edu	37	17	6374567	6374567	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6374567C>T	uc002gdd.3	-	12	1689	c.1538G>A	c.(1537-1539)CGC>CAC	p.R513H	PITPNM3_uc010cln.2_Missense_Mutation_p.R477H|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Missense_Mutation_p.R104H	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	513	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCGTCCTGGGCGCTGGAACCT	0.692												
PITPNM3	83394	broad.mit.edu	37	17	6406880	6406880	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6406880G>C	uc002gdd.3	-	4	392	c.241C>G	c.(241-243)CCG>GCG	p.P81A	PITPNM3_uc010cln.2_Missense_Mutation_p.P45A	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	81					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GATGTGCACGGCGCGGTCCCT	0.562												
SLC13A5	284111	broad.mit.edu	37	17	6607255	6607255	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6607255G>A	uc002gdj.2	-	4	577	c.489C>T	c.(487-489)AGC>AGT	p.S163S	SLC13A5_uc010vtf.1_Silent_p.S163S|SLC13A5_uc010clq.2_Silent_p.S120S|SLC13A5_uc002gdk.2_Silent_p.S146S|SLC13A5_uc002gdl.1_Silent_p.S145S	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	163						integral to membrane	citrate transmembrane transporter activity				0						CGGTGGCTGCGCTTGTGGCTT	0.647												
BCL6B	255877	broad.mit.edu	37	17	6927811	6927811	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:6927811G>A	uc002geg.2	+	4	550	c.493G>A	c.(493-495)GAA>AAA	p.E165K	BCL6B_uc010clt.1_Missense_Mutation_p.E165K	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	165	Pro-rich.					nucleus	zinc ion binding			skin(1)	1						CAGGCGCTCCGAAGGACACCC	0.622												
C17orf74	201243	broad.mit.edu	37	17	7329095	7329095	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7329095C>T	uc002ggw.2	+	1	161	c.88C>T	c.(88-90)CTG>TTG	p.L30L	FGF11_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	hypothetical protein LOC201243	30	Helical; (Potential).					integral to membrane					0		Prostate(122;0.157)				CTTACTCCTGCTGCTGGGCCT	0.537												
SHBG	6462	broad.mit.edu	37	17	7534615	7534615	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7534615G>A	uc002gie.2	+	4	529	c.491G>A	c.(490-492)CGC>CAC	p.R164H	SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Missense_Mutation_p.R106H|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.R106H|SHBG_uc010cmu.2_Missense_Mutation_p.R106H|SHBG_uc010cmz.2_Missense_Mutation_p.R106H|SHBG_uc010cmv.2_Intron|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.R106H|SHBG_uc002gid.3_Missense_Mutation_p.R106H|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.R164H|SHBG_uc010vuf.1_Missense_Mutation_p.R164H|SHBG_uc010cnb.2_Missense_Mutation_p.R164H|SHBG_uc010cnc.2_Intron	NM_001040	NP_001031	P04278	SHBG_HUMAN	sex hormone-binding globulin isoform 1	164	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)			0		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ACCAGCAAACGCCATCCCATC	0.622												
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7577551C>A	uc002gim.2	-	7	924	c.730G>T	c.(730-732)GGC>TGC	p.G244C	TP53_uc002gig.1_Missense_Mutation_p.G244C|TP53_uc002gih.2_Missense_Mutation_p.G244C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112C|TP53_uc010cng.1_Missense_Mutation_p.G112C|TP53_uc002gii.1_Missense_Mutation_p.G112C|TP53_uc010cnh.1_Missense_Mutation_p.G244C|TP53_uc010cni.1_Missense_Mutation_p.G244C|TP53_uc002gij.2_Missense_Mutation_p.G244C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151C|TP53_uc002gio.2_Missense_Mutation_p.G112C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	244	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCATGCCGCCCATGCAGGAA	0.582		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
DNAH2	146754	broad.mit.edu	37	17	7662800	7662800	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7662800C>T	uc002giu.1	+	15	2523	c.2509C>T	c.(2509-2511)CGC>TGC	p.R837C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	837	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGATGCCCTGCGCCTGAATGT	0.502												
DNAH2	146754	broad.mit.edu	37	17	7681430	7681430	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7681430G>A	uc002giu.1	+	33	5297	c.5283G>A	c.(5281-5283)ACG>ACA	p.T1761T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1761	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGACCAACACGCAATTTCAGT	0.532												
DNAH2	146754	broad.mit.edu	37	17	7710838	7710838	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7710838C>T	uc002giu.1	+	62	9677	c.9663C>T	c.(9661-9663)AAC>AAT	p.N3221N	DNAH2_uc010cnm.1_Silent_p.N159N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3221	Potential.|Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCGAATGAACGCTGCCTTGG	0.637												
KDM6B	23135	broad.mit.edu	37	17	7749463	7749463	+	Missense_Mutation	SNP	C	C	T	rs145085233		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7749463C>T	uc002giw.1	+	6	680	c.304C>T	c.(304-306)CGG>TGG	p.R102W	KDM6B_uc002gix.2_5'Flank	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	102					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2						GGCATTGCTCCGGGAGCCAGC	0.637												
CHD3	1107	broad.mit.edu	37	17	7798700	7798700	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:7798700G>A	uc002gje.2	+	10	1697	c.1547G>A	c.(1546-1548)CGG>CAG	p.R516Q	CHD3_uc002gjd.2_Missense_Mutation_p.R575Q|CHD3_uc002gjf.2_Missense_Mutation_p.R516Q|CHD3_uc002gjg.1_Missense_Mutation_p.R344Q	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	516	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CTACATTGGCGGTGGGGGGAG	0.572												
ALOXE3	59344	broad.mit.edu	37	17	8020176	8020176	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8020176G>A	uc010cnr.2	-	3	640	c.270C>T	c.(268-270)ACC>ACT	p.T90T	ALOXE3_uc002gka.2_Silent_p.T246T|ALOXE3_uc010vuo.1_Silent_p.T222T|ALOXE3_uc010vup.1_RNA	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3 isoform 2	90	PLAT.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			skin(3)|lung(1)|central_nervous_system(1)	5						CATCCGGTTCGGTGACACAGA	0.582												
AURKB	9212	broad.mit.edu	37	17	8110190	8110190	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8110190G>A	uc002gkm.2	-	6	476	c.415C>T	c.(415-417)CGT>TGT	p.R139C	AURKB_uc010cnu.2_Intron|AURKB_uc002gkn.2_Missense_Mutation_p.R140C|AURKB_uc010vuu.1_Missense_Mutation_p.R98C|AURKB_uc002gko.2_RNA	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	aurora kinase B	139	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(1)|central_nervous_system(1)	4						TTGTAGAGACGCAGGATGTTG	0.522												
ARHGEF15	22899	broad.mit.edu	37	17	8215771	8215771	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8215771G>A	uc002glc.2	+	2	535	c.414G>A	c.(412-414)CTG>CTA	p.L138L	ARHGEF15_uc002glb.1_Silent_p.L138L|ARHGEF15_uc002gld.2_Silent_p.L138L|ARHGEF15_uc010vuw.1_Silent_p.L138L	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	138					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						CTGGAGTCCTGGCTCAGAATG	0.687												
MYH10	4628	broad.mit.edu	37	17	8452089	8452089	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8452089T>C	uc002gll.2	-	9	1002	c.906A>G	c.(904-906)GAA>GAG	p.E302E	MYH10_uc002glm.2_Silent_p.E312E|MYH10_uc010cnx.2_Silent_p.E311E|MYH10_uc010cny.1_RNA	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	302	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						TATTAAATCCTTCAAGAAGCA	0.363												
USP43	124739	broad.mit.edu	37	17	9631535	9631535	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:9631535G>T	uc010cod.2	+	15	2600	c.2600G>T	c.(2599-2601)AGG>ATG	p.R867M	USP43_uc002gma.3_Missense_Mutation_p.R556M|USP43_uc010vva.1_Missense_Mutation_p.R862M|USP43_uc010coe.2_Missense_Mutation_p.R664M|USP43_uc002gmc.3_Missense_Mutation_p.R379M	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	ubiquitin specific protease 43	867					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCATCGCCGAGGTCCAACGTC	0.607												
GLP2R	9340	broad.mit.edu	37	17	9792733	9792733	+	Missense_Mutation	SNP	G	G	A	rs143908746	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:9792733G>A	uc002gmd.1	+	13	1373	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	458	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	TTGCTAGCCCGCCACTCAGGC	0.562												
MYH13	8735	broad.mit.edu	37	17	10212618	10212618	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10212618C>T	uc002gmk.1	-	35	5192	c.5102G>A	c.(5101-5103)CGG>CAG	p.R1701Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1701	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						CCTGCGGGTCCGCTCCGTCTG	0.657												
MYH8	4626	broad.mit.edu	37	17	10303724	10303724	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10303724C>T	uc002gmm.2	-	27	3813	c.3718G>A	c.(3718-3720)GCC>ACC	p.A1240T	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	1240	Potential.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						TTGGAAATGGCCTCTGCGTTA	0.453									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH8	4626	broad.mit.edu	37	17	10318675	10318675	+	Silent	SNP	G	G	A	rs146651214	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10318675G>A	uc002gmm.2	-	8	770	c.675C>T	c.(673-675)AGC>AGT	p.S225S	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	225	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11						GGGGATTGGCGCTGATGATTT	0.507									Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling			
MYH2	4620	broad.mit.edu	37	17	10438444	10438444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10438444C>T	uc010coi.2	-	19	2254	c.2126G>A	c.(2125-2127)CGC>CAC	p.R709H	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R709H|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	709	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R709C(1)		ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						CCTACAGATGCGGATGCCTTC	0.433												
MYH3	4621	broad.mit.edu	37	17	10538718	10538718	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:10538718C>T	uc002gmq.1	-	29	4215	c.4138G>A	c.(4138-4140)GCC>ACC	p.A1380T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1380	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						CGCTGGATGGCGTCCGTCTCG	0.493												
PMP22	5376	broad.mit.edu	37	17	15134388	15134388	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:15134388A>G	uc002goj.2	-	4	378	c.329T>C	c.(328-330)GTG>GCG	p.V110A	PMP22_uc002gok.2_Missense_Mutation_p.V110A|PMP22_uc002gol.2_Missense_Mutation_p.V110A	NM_153322	NP_696997	Q01453	PMP22_HUMAN	peripheral myelin protein 22	110	Helical; (By similarity).				peripheral nervous system development|synaptic transmission	integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		AGCACTCATCACGCACAGACC	0.622												
TRPV2	51393	broad.mit.edu	37	17	16321122	16321122	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:16321122A>G	uc002gpy.2	+	2	507	c.140A>G	c.(139-141)GAC>GGC	p.D47G	TRPV2_uc002gpz.2_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel,	47	Cytoplasmic (Potential).|Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGGCGAGGACCGGAAATTC	0.587												
MED9	55090	broad.mit.edu	37	17	17394661	17394661	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:17394661G>A	uc002grh.1	+	2	349	c.293G>A	c.(292-294)CGC>CAC	p.R98H		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	98					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding				0						CAGGAGATGCGCAAGCTCATC	0.587												
MYO15A	51168	broad.mit.edu	37	17	18023437	18023437	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18023437G>A	uc010vxh.1	+	2	1661	c.1323G>A	c.(1321-1323)GCG>GCA	p.A441A		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	441	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CAGAGGACGCGGGCGTAGAGC	0.657												
MYO15A	51168	broad.mit.edu	37	17	18061119	18061119	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18061119C>T	uc010vxh.1	+	50	9210	c.8872C>T	c.(8872-8874)CAG>TAG	p.Q2958*	MYO15A_uc010vxi.1_Nonsense_Mutation_p.Q222*|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_5'UTR|MYO15A_uc002gsl.2_5'Flank|MYO15A_uc010vxm.1_5'Flank|MYO15A_uc002gsm.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2958	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CGACTTCCTGCAGCTGCCAAC	0.716												
SMCR7	125170	broad.mit.edu	37	17	18167126	18167126	+	Missense_Mutation	SNP	G	G	A	rs151225748		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18167126G>A	uc002gst.2	+	4	624	c.413G>A	c.(412-414)CGT>CAT	p.R138H	SMCR7_uc002gsu.2_Silent_p.P113P|SMCR7_uc010vxq.1_Missense_Mutation_p.R149H	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	138						integral to membrane	protein binding				0	all_neural(463;0.228)					GAGCGGGACCGTGTGACCATC	0.632												
TOP3A	7156	broad.mit.edu	37	17	18181478	18181478	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18181478G>A	uc002gsx.1	-	18	2567	c.2338C>T	c.(2338-2340)CAC>TAC	p.H780Y	TOP3A_uc010cpz.1_Missense_Mutation_p.H232Y|TOP3A_uc010vxr.1_Missense_Mutation_p.H310Y|TOP3A_uc002gsw.1_Missense_Mutation_p.H232Y|TOP3A_uc010vxs.1_Missense_Mutation_p.H678Y	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	780					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GGCTGGGGGTGCTGGCTGTTG	0.632												
SMCR8	140775	broad.mit.edu	37	17	18219833	18219833	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18219833A>G	uc002gsy.3	+	1	1240	c.730A>G	c.(730-732)ATT>GTT	p.I244V		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	244										central_nervous_system(1)	1						GAAGTCCATCATTGAACATCA	0.483												
FAM83G	644815	broad.mit.edu	37	17	18881428	18881428	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:18881428G>T	uc002guw.2	-	5	1718	c.1551C>A	c.(1549-1551)GCC>GCA	p.A517A	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	hypothetical protein LOC644815	517										ovary(1)|central_nervous_system(1)	2						TGCTGTCCCGGGCTAGTACAT	0.652												
ALDH3A1	218	broad.mit.edu	37	17	19643782	19643782	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:19643782G>A	uc010cqu.2	-	6	1146	c.816C>T	c.(814-816)TAC>TAT	p.Y272Y	ALDH3A1_uc010vzd.1_Silent_p.Y272Y|ALDH3A1_uc002gwj.2_Silent_p.Y272Y|ALDH3A1_uc010cqv.2_Silent_p.Y271Y|ALDH3A1_uc002gwk.2_Silent_p.Y389Y|ALDH3A1_uc002gwl.1_Silent_p.Y199Y	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	272					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CATCTTCCCCGTAGAACTCCT	0.527												
ULK2	9706	broad.mit.edu	37	17	19720076	19720076	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:19720076G>A	uc002gwm.3	-	13	1591	c.1082C>T	c.(1081-1083)TCG>TTG	p.S361L	ULK2_uc002gwn.2_Missense_Mutation_p.S361L	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	361					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTGGTCTGACGAGATGTTGTG	0.368												
WSB1	26118	broad.mit.edu	37	17	25630429	25630429	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:25630429C>T	uc002gzd.1	+	3	562	c.246C>T	c.(244-246)AGC>AGT	p.S82S	WSB1_uc010vzy.1_Silent_p.S82S|WSB1_uc010vzz.1_Silent_p.S51S|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box-containing 1 isoform 1	82					intracellular signal transduction	intracellular	protein binding				0	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCAATTCAAGCAGTTTAAGAT	0.403												
SLC13A2	9058	broad.mit.edu	37	17	26823498	26823498	+	Missense_Mutation	SNP	G	G	A	rs149423247	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:26823498G>A	uc002hbh.2	+	11	1568	c.1501G>A	c.(1501-1503)GTC>ATC	p.V501I	SLC13A2_uc010wam.1_Missense_Mutation_p.V457I|SLC13A2_uc010wan.1_Missense_Mutation_p.V550I|SLC13A2_uc010wao.1_Missense_Mutation_p.V458I|SLC13A2_uc002hbi.2_Missense_Mutation_p.V430I	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	501	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCCTCTCTACGTCATGCTCCC	0.632												
KIAA0100	9703	broad.mit.edu	37	17	26942731	26942731	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:26942731T>A	uc002hbu.2	-	38	6575	c.6476A>T	c.(6475-6477)GAC>GTC	p.D2159V	SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Missense_Mutation_p.D488V	NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	2159						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					CATGGCAAAGTCTAGCCATGT	0.572												
C17orf63	55731	broad.mit.edu	37	17	27086286	27086286	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27086286G>A	uc002hct.1	-	3	958	c.691C>T	c.(691-693)CGG>TGG	p.R231W	C17orf63_uc010wax.1_Missense_Mutation_p.R231W|C17orf63_uc010way.1_Missense_Mutation_p.R231W|C17orf63_uc002hcw.2_Missense_Mutation_p.R103W	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	hypothetical protein LOC55731	231										ovary(1)	1	all_epithelial(6;5.06e-20)|Lung NSC(42;0.01)		Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104)			GGCATCTTCCGGCCTCCATGC	0.637												
MYO18A	399687	broad.mit.edu	37	17	27448654	27448654	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27448654G>A	uc002hdt.1	-	5	1440	c.1282C>T	c.(1282-1284)CGC>TGC	p.R428C	MYO18A_uc010wbc.1_5'UTR|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.R428C|MYO18A_uc002hdu.1_Missense_Mutation_p.R428C|MYO18A_uc010wbd.1_Missense_Mutation_p.R97C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	428	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCGCCATAGCGCTGGCGCAAG	0.637												
NUFIP2	57532	broad.mit.edu	37	17	27614057	27614057	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27614057G>A	uc002hdy.3	-	2	1044	c.955C>T	c.(955-957)CCC>TCC	p.P319S	NUFIP2_uc002hdx.3_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein	319						nucleus|polysomal ribosome	protein binding|RNA binding			skin(2)|ovary(1)|breast(1)	4			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTTCCTTTGGGCCGATCATCA	0.478												
TAOK1	57551	broad.mit.edu	37	17	27825386	27825386	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:27825386T>C	uc002hdz.1	+	12	1244	c.1050T>C	c.(1048-1050)AGT>AGC	p.S350S	TAOK1_uc010wbe.1_Silent_p.S350S|TAOK1_uc010wbf.1_Silent_p.S350S|TAOK1_uc002heb.1_Silent_p.S176S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	350	Ser-rich.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			GTGTTGGAAGTAATCAATCCA	0.413												
ADAP2	55803	broad.mit.edu	37	17	29253876	29253876	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:29253876A>C	uc002hfx.2	+	3	536	c.257A>C	c.(256-258)AAG>ACG	p.K86T	ADAP2_uc010csk.2_Missense_Mutation_p.K92T|ADAP2_uc002hfy.2_Missense_Mutation_p.K86T|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	86	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		ovary(1)	1						CTCCGTGTGAAGGCCAAGTTC	0.488												
NF1	4763	broad.mit.edu	37	17	29687688	29687688	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:29687688A>G	uc002hgg.2	+	57	8677	c.8344A>G	c.(8344-8346)ATG>GTG	p.M2782V	NF1_uc002hgh.2_Missense_Mutation_p.M2761V|NF1_uc010cso.2_Missense_Mutation_p.M970V|NF1_uc010wbt.1_Missense_Mutation_p.M260V|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2782					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTAATTCCATGACCTCACT	0.443			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
ZNF830	91603	broad.mit.edu	37	17	33289326	33289326	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:33289326G>A	uc002hih.3	+	1	778	c.741G>A	c.(739-741)CCG>CCA	p.P247P	CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	coiled-coil domain containing 16	247					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)	1		Ovarian(249;0.17)				AAGCGTTACCGGAAGGTTTTT	0.458												
LIG3	3980	broad.mit.edu	37	17	33331364	33331364	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:33331364C>T	uc002hik.1	+	20	2977	c.2869C>T	c.(2869-2871)CGC>TGC	p.R957C	uc002hil.2_5'Flank	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	957	BRCT.				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	CCGTCTCAGACGCTACTTTGT	0.577								Other_BER_factors				
SOCS7	30837	broad.mit.edu	37	17	36520674	36520674	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36520674G>A	uc002hqa.2	+	3	1016	c.893G>A	c.(892-894)CGG>CAG	p.R298Q	SOCS7_uc010cvl.2_Missense_Mutation_p.R298Q|SOCS7_uc002hqb.2_RNA	NM_014598	NP_055413	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	298	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			skin(1)	1	Breast(7;3.47e-17)					ATTTCTCAGCGGGGCCTGACC	0.547												
MLLT6	4302	broad.mit.edu	37	17	36865453	36865453	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36865453C>T	uc002hqi.3	+	5	395	c.382C>T	c.(382-384)CGG>TGG	p.R128W	MLLT6_uc010wdr.1_Missense_Mutation_p.R128W|MLLT6_uc010cvm.1_Missense_Mutation_p.R128W	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	128	PHD-type 2.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)					GGAGCAGGGCCGGGAGAGCAA	0.632			T	MLL	AL							
PSMB3	5691	broad.mit.edu	37	17	36916769	36916769	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36916769G>A	uc002hqr.2	+	4	460	c.382G>A	c.(382-384)GGC>AGC	p.G128S		NM_002795	NP_002786	P49720	PSB3_HUMAN	proteasome beta 3 subunit	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity				0						AGACCTCATCGGCTGCCCCAT	0.557												
STARD3	10948	broad.mit.edu	37	17	37809851	37809851	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:37809851G>T	uc002hsd.2	+	2	191	c.67G>T	c.(67-69)GGC>TGC	p.G23C	STARD3_uc010weg.1_Missense_Mutation_p.G23C|STARD3_uc010weh.1_RNA|STARD3_uc002hse.2_Missense_Mutation_p.G23C|STARD3_uc010wei.1_Missense_Mutation_p.G23C|STARD3_uc002hsf.2_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain	23	Cytoplasmic (Potential).				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity				0	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCCTCCCTGGGCTCCTCACT	0.682											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMARCE1	6605	broad.mit.edu	37	17	38785239	38785239	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:38785239G>A	uc002hux.2	-	11	1158	c.1034C>T	c.(1033-1035)ACA>ATA	p.T345I	SMARCE1_uc010wff.1_3'UTR|SMARCE1_uc010wfg.1_3'UTR|SMARCE1_uc002huy.2_Missense_Mutation_p.T310I|SMARCE1_uc010wfh.1_Missense_Mutation_p.T275I|SMARCE1_uc010wfi.1_Missense_Mutation_p.T327I	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	345	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				TTCAAGGTGTGTCTCCTCTGT	0.398												
KRT28	162605	broad.mit.edu	37	17	38955184	38955184	+	Missense_Mutation	SNP	T	T	C	rs148946166		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:38955184T>C	uc002hvh.1	-	2	584	c.518A>G	c.(517-519)GAT>GGT	p.D173G		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	keratin 25D	173	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(1)	1		Breast(137;0.000301)				CCTGAAATCATCAGCAGCCAG	0.318												
KRT20	54474	broad.mit.edu	37	17	39034445	39034445	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39034445T>C	uc002hvl.2	-	6	1133	c.1091A>G	c.(1090-1092)GAA>GGA	p.E364G		NM_019010	NP_061883	P35900	K1C20_HUMAN	keratin 20	364	Rod.|Coil 2.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			large_intestine(1)|kidney(1)|skin(1)	3		Breast(137;0.000301)|Ovarian(249;0.15)				AATTTCCTGTTCAAGTCGAGT	0.443												
KRT34	3885	broad.mit.edu	37	17	39535427	39535427	+	Missense_Mutation	SNP	C	C	T	rs140889696		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39535427C>T	uc002hwm.2	-	6	1016	c.1004G>A	c.(1003-1005)CGA>CAA	p.R335Q		NM_021013	NP_066293	O76011	KRT34_HUMAN	keratin 34	335	Rod.|Coil 2.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)				CAGAGAGTCTCGCTGTGGTGG	0.547												
KRT13	3860	broad.mit.edu	37	17	39659656	39659656	+	Silent	SNP	G	G	A	rs147005767		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39659656G>A	uc002hwu.1	-	3	681	c.618C>T	c.(616-618)GCC>GCT	p.A206A	KRT13_uc002hwv.1_Silent_p.A206A|KRT13_uc002hww.2_Silent_p.A99A|KRT13_uc010wfr.1_Silent_p.A99A|KRT13_uc010cxo.2_Silent_p.A206A|KRT13_uc002hwx.1_Silent_p.A194A	NM_153490	NP_705694	P13646	K1C13_HUMAN	keratin 13 isoform a	206	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			ovary(2)|skin(2)|pancreas(1)	5		Breast(137;0.000286)				CGTTGATGTCGGCCTCCACGC	0.468												
KRT9	3857	broad.mit.edu	37	17	39728026	39728026	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:39728026G>A	uc002hxe.3	-	1	285	c.219C>T	c.(217-219)TAC>TAT	p.Y73Y	JUP_uc010wfs.1_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	keratin 9	73	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Breast(137;0.000307)				ATCCTCCGCCGTAGCTGTAGC	0.418												
STAT5B	6777	broad.mit.edu	37	17	40370880	40370880	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40370880C>T	uc002hzh.2	-	8	1019	c.850G>A	c.(850-852)GAG>AAG	p.E284K	STAT5B_uc002hzi.3_Missense_Mutation_p.E284K	NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	284	Required for interaction with NMI.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CAGATGATCTCGGCCAACTTC	0.652												
HSD17B1	3292	broad.mit.edu	37	17	40705464	40705464	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40705464C>T	uc002hzw.2	+	3	1241	c.273C>T	c.(271-273)AAC>AAT	p.N91N	HSD17B1_uc002hzx.2_Silent_p.N91N|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.A39A|HSD17B1_uc010cyi.2_Silent_p.N122N	NM_000413	NP_000404	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	91					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity				0		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	CAGTGTGTAACGCAGGCCTGG	0.672												
MLX	6945	broad.mit.edu	37	17	40721591	40721591	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40721591G>A	uc002iag.2	+	6	670	c.605G>A	c.(604-606)CGC>CAC	p.R202H	MLX_uc002iaf.2_Missense_Mutation_p.R148H|MLX_uc002iah.2_Missense_Mutation_p.R118H	NM_170607	NP_733752	Q9UH92	MLX_HUMAN	transcription factor-like protein 4 isoform	202					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCCACGTTACGCAAGGATGTC	0.493												
WNK4	65266	broad.mit.edu	37	17	40947524	40947524	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40947524G>A	uc002ibj.2	+	15	3028	c.3007G>A	c.(3007-3009)GCG>ACG	p.A1003T	WNK4_uc010wgx.1_Missense_Mutation_p.A667T|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1003					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGCCAGGCTGGCGCCCATCTC	0.592												
BECN1	8678	broad.mit.edu	37	17	40970692	40970692	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:40970692C>A	uc002ibo.3	-	6	493	c.358G>T	c.(358-360)GGG>TGG	p.G120W	BECN1_uc010whb.1_Missense_Mutation_p.G33W|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.G120W	NM_003766	NP_003757	Q14457	BECN1_HUMAN	beclin 1	120					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			ovary(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		AAAAGGTCCCCAGTGACCTGG	0.552												
SOST	50964	broad.mit.edu	37	17	41835927	41835927	+	Silent	SNP	G	G	A	rs17883541		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:41835927G>A	uc002iec.1	-	1	230	c.183C>T	c.(181-183)AAC>AAT	p.N61N		NM_025237	NP_079513	Q9BQB4	SOST_HUMAN	sclerostin precursor	61					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding				0		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		GCCGCCCTCCGTTCTCCGCCC	0.547												
HDAC5	10014	broad.mit.edu	37	17	42169769	42169769	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42169769A>G	uc002ifd.1	-	8	1110	c.899T>C	c.(898-900)ATC>ACC	p.I300T	HDAC5_uc002ife.1_Missense_Mutation_p.I300T|HDAC5_uc002iff.1_Missense_Mutation_p.I301T|HDAC5_uc010czp.1_Missense_Mutation_p.I300T|HDAC5_uc002ifh.2_Missense_Mutation_p.I300T	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	300					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGCACCTGTGATCTCAACAGC	0.567												
ATXN7L3	56970	broad.mit.edu	37	17	42272170	42272170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42272170G>A	uc002iga.2	-	10	794	c.703C>T	c.(703-705)CGA>TGA	p.R235*	ATXN7L3_uc010wiv.1_Nonsense_Mutation_p.R17*|ATXN7L3_uc002ifz.2_Nonsense_Mutation_p.R242*	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3 isoform b	235	SCA7.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding				0		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGTACGGTTCGCCTCTGCTCA	0.587												
GPATCH8	23131	broad.mit.edu	37	17	42476843	42476843	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42476843G>A	uc002igw.1	-	8	2666	c.2602C>T	c.(2602-2604)CGT>TGT	p.R868C	GPATCH8_uc002igv.1_Missense_Mutation_p.R790C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R790C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	868	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAGTAAGAACGCCGGGAGGAA	0.537												
GPATCH8	23131	broad.mit.edu	37	17	42501727	42501727	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:42501727G>T	uc002igw.1	-	6	546	c.482C>A	c.(481-483)GCA>GAA	p.A161E	GPATCH8_uc002igv.1_Missense_Mutation_p.A83E|GPATCH8_uc010wiz.1_Missense_Mutation_p.A83E	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	161						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTGCTTGTGTGCATGATCATA	0.383												
KIF18B	146909	broad.mit.edu	37	17	43011405	43011405	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:43011405G>A	uc010wji.1	-	7	1049	c.948C>T	c.(946-948)CTC>CTT	p.L316L	KIF18B_uc002iht.2_Silent_p.L316L|KIF18B_uc010wjh.1_Silent_p.L316L	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				AGTTGCCCCCGAGGGAGTCTT	0.632												
ACBD4	79777	broad.mit.edu	37	17	43214761	43214761	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:43214761G>A	uc002iid.2	+	6	786	c.442G>A	c.(442-444)GAT>AAT	p.D148N	ACBD4_uc010wjj.1_Missense_Mutation_p.D148N|ACBD4_uc002iie.2_Missense_Mutation_p.D148N|ACBD4_uc002iif.2_Missense_Mutation_p.D148N|ACBD4_uc002iic.2_Missense_Mutation_p.D148N|ACBD4_uc010dae.2_Missense_Mutation_p.D70N	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	acyl-Coenzyme A binding domain containing 4	148							fatty-acyl-CoA binding			ovary(1)|kidney(1)	2						TGTGAATGGAGATGTTGGGGC	0.612												
KPNB1	3837	broad.mit.edu	37	17	45755696	45755696	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:45755696A>G	uc002ilt.1	+	19	2606	c.2270A>G	c.(2269-2271)TAT>TGT	p.Y757C	KPNB1_uc010wkw.1_Missense_Mutation_p.Y612C|KPNB1_uc010wkx.1_Missense_Mutation_p.Y541C	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	757					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATGGTGGATTATCTGAATGAG	0.438												
NGFR	4804	broad.mit.edu	37	17	47587858	47587858	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:47587858C>A	uc002ioz.3	+	4	778	c.653C>A	c.(652-654)CCT>CAT	p.P218H		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	218	Ser/Thr-rich.|Extracellular (Potential).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CCTGAGGCACCTCCAGAACAA	0.642												
ITGA3	3675	broad.mit.edu	37	17	48155490	48155490	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48155490G>A	uc010dbl.2	+	17	2683	c.2219_splice	c.e17+1	p.T740_splice	ITGA3_uc010dbm.2_Splice_Site_p.T740_splice	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor						blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						AGCTCTCCACGTGAGTGACCT	0.582												
ACSF2	80221	broad.mit.edu	37	17	48538177	48538177	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48538177G>A	uc002iqu.2	+	2	372	c.268G>A	c.(268-270)GCC>ACC	p.A90T	ACSF2_uc010wml.1_Missense_Mutation_p.A90T|ACSF2_uc010wmm.1_Missense_Mutation_p.A115T|ACSF2_uc010wmn.1_Missense_Mutation_p.A90T|ACSF2_uc010wmo.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2 precursor	90					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity				0	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGAACGAGAGGCCTTGGTCGT	0.562												
MYCBPAP	84073	broad.mit.edu	37	17	48598516	48598516	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48598516G>A	uc010wmr.1	+	8	1253	c.1091G>A	c.(1090-1092)CGG>CAG	p.R364Q	MYCBPAP_uc002iqx.2_Missense_Mutation_p.R364Q|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	327					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACCTGGGATCGGAGTCTGTTT	0.562												
SPATA20	64847	broad.mit.edu	37	17	48627954	48627954	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48627954C>T	uc002irf.2	+	9	1249	c.1108C>T	c.(1108-1110)CGG>TGG	p.R370W	SPATA20_uc002irc.2_Missense_Mutation_p.R37W|SPATA20_uc002ire.2_Missense_Mutation_p.R326W|SPATA20_uc002ird.2_Missense_Mutation_p.R386W|SPATA20_uc010wmv.1_Silent_p.L426L|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	370					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTACGTGGCTCGGAGCCTGAG	0.612											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CACNA1G	8913	broad.mit.edu	37	17	48696324	48696324	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:48696324G>A	uc002irk.1	+	33	6108	c.5736G>A	c.(5734-5736)GCG>GCA	p.A1912A	CACNA1G_uc002irj.1_Silent_p.A1878A|CACNA1G_uc002irl.1_Silent_p.A1889A|CACNA1G_uc002irm.1_Silent_p.A1878A|CACNA1G_uc002irn.1_Silent_p.A1871A|CACNA1G_uc002iro.1_Silent_p.A1878A|CACNA1G_uc002irp.1_Silent_p.A1912A|CACNA1G_uc002irq.1_Silent_p.A1889A|CACNA1G_uc002irr.1_Silent_p.A1912A|CACNA1G_uc002irs.1_Silent_p.A1901A|CACNA1G_uc002irt.1_Silent_p.A1894A|CACNA1G_uc002irv.1_Silent_p.A1901A|CACNA1G_uc002irw.1_Silent_p.A1889A|CACNA1G_uc002iru.1_Silent_p.A1878A|CACNA1G_uc002irx.1_Silent_p.A1825A|CACNA1G_uc002iry.1_Silent_p.A1814A|CACNA1G_uc002irz.1_Silent_p.A1818A|CACNA1G_uc002isa.1_Silent_p.A1791A|CACNA1G_uc002isb.1_Silent_p.A1832A|CACNA1G_uc002isc.1_Silent_p.A1814A|CACNA1G_uc002isd.1_Silent_p.A1800A|CACNA1G_uc002ise.1_Silent_p.A1780A|CACNA1G_uc002isf.1_Silent_p.A1807A|CACNA1G_uc002isg.1_Silent_p.A1773A|CACNA1G_uc002ish.1_Silent_p.A1780A|CACNA1G_uc002isi.1_Silent_p.A1768A	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1912	Cytoplasmic (Potential).				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCACCCAGCGGCCCACGCGA	0.716												
SPAG9	9043	broad.mit.edu	37	17	49074033	49074033	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:49074033G>A	uc002itc.2	-	16	2070	c.1861C>T	c.(1861-1863)CGC>TGC	p.R621C	SPAG9_uc002itb.2_Missense_Mutation_p.R607C|SPAG9_uc002itd.2_Missense_Mutation_p.R611C|SPAG9_uc002itf.2_Missense_Mutation_p.R442C|SPAG9_uc002ita.2_Missense_Mutation_p.R464C|SPAG9_uc002ite.2_Missense_Mutation_p.R451C	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	621					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGTTCTCTGCGTGAGGCTAAA	0.408												
MTMR4	9110	broad.mit.edu	37	17	56585913	56585913	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:56585913C>T	uc002iwj.2	-	7	577	c.467G>A	c.(466-468)CGT>CAT	p.R156H		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	156	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTCGACAACGTATGTGCTC	0.547												
TEX14	56155	broad.mit.edu	37	17	56650604	56650604	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:56650604G>T	uc010dcz.1	-	24	3705	c.3587C>A	c.(3586-3588)GCT>GAT	p.A1196D	TEX14_uc002iwr.1_Missense_Mutation_p.A1190D|TEX14_uc002iws.1_Missense_Mutation_p.A1150D|TEX14_uc010dda.1_Missense_Mutation_p.A930D	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	1196						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGCATGAAGCTTCCTTAAA	0.433												
TRIM37	4591	broad.mit.edu	37	17	57126657	57126657	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:57126657C>T	uc002iwy.3	-	15	1856	c.1412G>A	c.(1411-1413)CGA>CAA	p.R471Q	TRIM37_uc002iwz.3_Missense_Mutation_p.R471Q|TRIM37_uc002ixa.3_Missense_Mutation_p.R349Q|TRIM37_uc010woc.1_Missense_Mutation_p.R437Q	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	471						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTCTTAGCTCGTGTCTCCAG	0.453									Mulibrey_Nanism			
C17orf71	55181	broad.mit.edu	37	17	57287657	57287657	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:57287657A>G	uc002ixi.2	+	1	287	c.245A>G	c.(244-246)CAC>CGC	p.H82R		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	SMG8 protein	82					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)					CTCTTTCGCCACCAAGATCCT	0.602												
USP32	84669	broad.mit.edu	37	17	58260599	58260599	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:58260599C>T	uc002iyo.1	-	31	4336	c.4050G>A	c.(4048-4050)TCG>TCA	p.S1350S	USP32_uc002iyn.1_Silent_p.S1020S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1350					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTCCCCAGCCGAACTCTGCG	0.592												
MRC2	9902	broad.mit.edu	37	17	60767091	60767091	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:60767091G>A	uc002jad.2	+	24	3945	c.3543G>A	c.(3541-3543)ACG>ACA	p.T1181T	MRC2_uc002jae.2_Silent_p.T252T|MRC2_uc002jaf.2_Intron	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1181	Extracellular (Potential).|C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			ovary(1)|central_nervous_system(1)|skin(1)	3						GGCTGCGCACGCCGCTCTGGA	0.706												
TANC2	26115	broad.mit.edu	37	17	61498449	61498449	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:61498449C>T	uc002jal.3	+	25	5129	c.5106C>T	c.(5104-5106)TCC>TCT	p.S1702S	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Silent_p.S813S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1702							binding			ovary(2)	2						AGCGACCTTCCTCAGCATACC	0.562												
LIMD2	80774	broad.mit.edu	37	17	61776056	61776056	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:61776056G>A	uc002jbj.3	-	5	418	c.240C>T	c.(238-240)GCC>GCT	p.A80A	LIMD2_uc002jbk.3_Missense_Mutation_p.R82C|LIMD2_uc002jbl.3_Silent_p.A80A	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	80	LIM zinc-binding.						zinc ion binding				0						CGTGCAGCGCGGCGTAGCTGC	0.433												
LIMD2	80774	broad.mit.edu	37	17	61776626	61776626	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:61776626G>T	uc002jbj.3	-	2	211	c.33C>A	c.(31-33)ACC>ACA	p.T11T	LIMD2_uc002jbk.3_5'UTR|LIMD2_uc002jbl.3_Silent_p.T11T	NM_030576	NP_085053	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	11							zinc ion binding				0						CATGAGAGGGGGTGGCCTGGG	0.672												
ERN1	2081	broad.mit.edu	37	17	62144199	62144199	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:62144199G>T	uc002jdz.2	-	8	787	c.674C>A	c.(673-675)CCT>CAT	p.P225H		NM_001433	NP_001424	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signalling 1	225	Lumenal (Potential).				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1)	9						GGCCACCACAGGGGAGGCGTA	0.552												
PRKCA	5578	broad.mit.edu	37	17	64683346	64683346	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:64683346G>A	uc002jfp.1	+	6	691	c.647G>A	c.(646-648)CGC>CAC	p.R216H	PRKCA_uc002jfo.1_Missense_Mutation_p.R87H	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	216	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AAAACCATCCGCTCCACACTA	0.423												
CACNG1	786	broad.mit.edu	37	17	65052273	65052273	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:65052273C>A	uc002jfu.2	+	4	626	c.555C>A	c.(553-555)GCC>GCA	p.A185A		NM_000727	NP_000718	Q06432	CCG1_HUMAN	voltage-dependent calcium channel gamma-1	185	Helical; (Potential).				muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity				0	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TTGCCTGCGCCTGTGCCGCCT	0.602												
HELZ	9931	broad.mit.edu	37	17	65163599	65163599	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:65163599G>A	uc010wqk.1	-	14	1931	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.R582W	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGTCAGGCCGAAGATTAAGT	0.388												
SLC39A11	201266	broad.mit.edu	37	17	70845904	70845904	+	Missense_Mutation	SNP	G	G	A	rs143231715		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:70845904G>A	uc002jjb.2	-	6	606	c.491C>T	c.(490-492)GCG>GTG	p.A164V	SLC39A11_uc002jja.2_Missense_Mutation_p.A157V|SLC39A11_uc002jjc.1_Missense_Mutation_p.A157V	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	164					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						AGTGGCTGCCGCCTTCTTTCT	0.542												
CDC42EP4	23580	broad.mit.edu	37	17	71282522	71282522	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71282522C>T	uc002jjn.2	-	2	265	c.118G>A	c.(118-120)GTT>ATT	p.V40I	CDC42EP4_uc002jjo.2_Missense_Mutation_p.V40I|CDC42EP4_uc002jjp.1_Missense_Mutation_p.V40I	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Cdc42 effector protein 4	40	CRIB.				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding				0			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GCCCGGCCAACGTGCATGGTG	0.657												
SDK2	54549	broad.mit.edu	37	17	71346417	71346417	+	Silent	SNP	G	G	A	rs138003419	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71346417G>A	uc010dfm.2	-	43	5997	c.5997C>T	c.(5995-5997)TCC>TCT	p.S1999S	SDK2_uc002jjt.3_Silent_p.S1139S	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	1999	Cytoplasmic (Potential).				cell adhesion	integral to membrane				ovary(2)	2						AGTTCTTGACGGAGAGCCGCC	0.602												
RPL38	6169	broad.mit.edu	37	17	72205355	72205355	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:72205355G>A	uc002jjz.2	+	4	222	c.94G>A	c.(94-96)GTG>ATG	p.V32M	RPL38_uc002jka.2_Missense_Mutation_p.V32M	NM_000999	NP_000990	P63173	RL38_HUMAN	ribosomal protein L38	32					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0						TAAGGACAACGTGAAGTTTAA	0.443												
FADS6	283985	broad.mit.edu	37	17	72877353	72877353	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:72877353G>T	uc002jmd.1	-	4	583	c.571C>A	c.(571-573)CTG>ATG	p.L191M	FADS6_uc010wrn.1_Intron	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	fatty acid desaturase domain family, member 6	197					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity				0	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCGTCCGCAGGGCTGTCCCG	0.617												
USH1G	124590	broad.mit.edu	37	17	72916757	72916757	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:72916757C>T	uc002jme.1	-	2	357	c.174G>A	c.(172-174)CCG>CCA	p.P58P	USH1G_uc010wro.1_Intron	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Usher syndrome 1G protein	58	ANK 1.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton				skin(2)	2	all_lung(278;0.172)|Lung NSC(278;0.207)					CACACTTGTCCGGGTCACCCC	0.617												
SLC16A5	9121	broad.mit.edu	37	17	73094194	73094194	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73094194C>T	uc002jmr.2	+	4	633	c.261C>T	c.(259-261)GGC>GGT	p.G87G	SLC16A5_uc002jms.1_Silent_p.G87G|SLC16A5_uc002jmt.2_Silent_p.G87G|SLC16A5_uc002jmu.2_Silent_p.G87G|SLC16A5_uc010wrt.1_Silent_p.G127G	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	87	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TGCTGGGGGGCGTGCTGGCCA	0.602												
KIAA0195	9772	broad.mit.edu	37	17	73484108	73484108	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73484108T>C	uc002jnz.3	+	6	780	c.505T>C	c.(505-507)TAC>CAC	p.Y169H	KIAA0195_uc010wsa.1_Missense_Mutation_p.Y179H|KIAA0195_uc010wsb.1_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	169					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCACTGGGCCTACAGAGACGG	0.582												
SAP30BP	29115	broad.mit.edu	37	17	73699916	73699916	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73699916A>G	uc002jpe.2	+	8	632	c.578A>G	c.(577-579)GAG>GGG	p.E193G	SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_Intron|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.E177G	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	transcriptional regulator protein	193					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTGGTCTGAGGACTCCTAC	0.493												
SRP68	6730	broad.mit.edu	37	17	74035930	74035930	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:74035930A>G	uc002jqk.1	-	16	1776	c.1741T>C	c.(1741-1743)TTC>CTC	p.F581L	SRP68_uc010wsu.1_Missense_Mutation_p.F480L|SRP68_uc002jql.1_Missense_Mutation_p.F543L|SRP68_uc002jqj.1_Missense_Mutation_p.F242L	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	581					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						ATGGGCTGGAAGCCTGGTGGG	0.532												
GALR2	8811	broad.mit.edu	37	17	74073109	74073109	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:74073109C>T	uc002jqm.1	+	2	842	c.761C>T	c.(760-762)GCG>GTG	p.A254V	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	254	Helical; Name=6; (Potential).				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity				0						CCCCACCACGCGCTCATCCTC	0.677												
SEPT9	10801	broad.mit.edu	37	17	75398671	75398671	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:75398671A>T	uc002jts.3	+	3	733	c.607A>T	c.(607-609)AGC>TGC	p.S203C	SEPT9_uc010wtk.1_Missense_Mutation_p.S184C|SEPT9_uc002jtt.3_Missense_Mutation_p.S39C|SEPT9_uc002jtu.3_Missense_Mutation_p.S185C|SEPT9_uc002jtv.2_Missense_Mutation_p.S196C|SEPT9_uc002jtw.2_Missense_Mutation_p.S39C|SEPT9_uc002jtx.1_Missense_Mutation_p.S39C|SEPT9_uc010wtl.1_5'Flank	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	203					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			CACCGCCCCCAGCCCAGCCCA	0.687												
TMC8	147138	broad.mit.edu	37	17	76129604	76129604	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:76129604T>C	uc002jup.2	+	6	1031	c.649T>C	c.(649-651)TTC>CTC	p.F217L	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	217	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCTCCTCTGCTTCTGTGGGAC	0.642									Epidermodysplasia_Verruciformis_Familial_Clustering_of			
DNAH17	8632	broad.mit.edu	37	17	76458959	76458959	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:76458959G>A	uc010dhp.1	-	2	363	c.141C>T	c.(139-141)AAC>AAT	p.N47N	DNAH17_uc002jvs.2_RNA					SubName: Full=DNAH17 variant protein; Flags: Fragment;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCATCAGGCCGTTCTCCAGCC	0.582												
USP36	57602	broad.mit.edu	37	17	76817087	76817087	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:76817087C>T	uc002jvz.1	-	8	1139	c.814G>A	c.(814-816)GCG>ACG	p.A272T	USP36_uc002jwa.1_Missense_Mutation_p.A272T|USP36_uc002jwc.1_5'UTR	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	272					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)			ATCTCCAGCGCGACGTCCAAG	0.582												
TBC1D16	125058	broad.mit.edu	37	17	77984457	77984457	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:77984457G>A	uc002jxj.2	-	3	397	c.281C>T	c.(280-282)GCC>GTC	p.A94V		NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	94						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GTAGCGCAGGGCCTCCTCGTC	0.672												
RNF213	57674	broad.mit.edu	37	17	78326795	78326795	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:78326795T>C	uc002jyh.1	+	8	4801	c.4578T>C	c.(4576-4578)TCT>TCC	p.S1526S	uc002jyi.1_RNA|RNF213_uc010dhw.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCATGGTTTCTGATGTGACCA	0.602												
RNF213	57674	broad.mit.edu	37	17	78357574	78357574	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:78357574T>C	uc002jyh.1	+	34	8610	c.8387T>C	c.(8386-8388)GTG>GCG	p.V2796A	uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTGACCCAGTGACCTTCCTG	0.468												
BAHCC1	57597	broad.mit.edu	37	17	79428094	79428094	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:79428094C>T	uc002kaf.2	+	24	6405	c.6405C>T	c.(6403-6405)CGC>CGT	p.R2135R	BAHCC1_uc002kae.2_Silent_p.R1365R	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	2135							DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			TGCGGGCCCGCGAGGCCCTGT	0.687												
HGS	9146	broad.mit.edu	37	17	79661855	79661855	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:79661855C>A	uc002kbg.2	+	12	1024	c.947C>A	c.(946-948)GCG>GAG	p.A316E		NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	316	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AACTCGTCGGCGCCTCTGGCT	0.607												
GPS1	2873	broad.mit.edu	37	17	80013901	80013901	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:80013901A>G	uc002kdl.1	+	8	916	c.871A>G	c.(871-873)ATC>GTC	p.I291V	GPS1_uc002kdk.1_Missense_Mutation_p.I327V|GPS1_uc010dij.1_Missense_Mutation_p.I326V|GPS1_uc002kdm.1_Missense_Mutation_p.I271V|GPS1_uc002kdn.1_Missense_Mutation_p.I287V|GPS1_uc002kdo.1_Missense_Mutation_p.I290V|GPS1_uc010wvh.1_Missense_Mutation_p.I283V	NM_004127	NP_004118	Q13098	CSN1_HUMAN	G protein pathway suppressor 1 isoform 2	291					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAACGTGGCCATCTACGGTGG	0.657												
FN3KRP	79672	broad.mit.edu	37	17	80680764	80680764	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:80680764T>C	uc002kfu.2	+	4	518	c.468_splice	c.e4+2	p.Q156_splice	FN3KRP_uc010wvr.1_Splice_Site_p.Q106_splice	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein								kinase activity				0	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTCCCCCAGGTGAGTGCACGG	0.547												
TMEM200C	645369	broad.mit.edu	37	18	5891793	5891793	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:5891793C>T	uc002kmx.1	-	1	311	c.270G>A	c.(268-270)CCG>CCA	p.P90P		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	90						integral to membrane					0						TGCCCGCAGGCGGCAGCTGCT	0.672												
KIAA0802	23255	broad.mit.edu	37	18	8784282	8784282	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:8784282C>T	uc002knr.2	+	6	1314	c.1172C>T	c.(1171-1173)GCG>GTG	p.A391V	KIAA0802_uc002knq.2_Missense_Mutation_p.A391V|KIAA0802_uc010dkw.1_Missense_Mutation_p.A229V	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	742											0						GAGAGTGATGCGGGCAAGAAG	0.662												
NAPG	8774	broad.mit.edu	37	18	10549069	10549069	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:10549069G>A	uc002kon.2	+	11	998	c.771G>A	c.(769-771)CCG>CCA	p.P257P	NAPG_uc010wzr.1_Silent_p.P175P|NAPG_uc002koo.2_Silent_p.P170P|NAPG_uc002kop.2_Silent_p.P170P	NM_003826	NP_003817	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment	257					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0						GCAACTCACCGCTTTTCAAGT	0.433												
CEP192	55125	broad.mit.edu	37	18	13095595	13095595	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:13095595G>A	uc010xac.1	+	35	6428	c.6348G>A	c.(6346-6348)GCG>GCA	p.A2116A	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.A1641A|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.A538A|CEP192_uc002krw.2_Silent_p.A265A|CEP192_uc002krx.2_Silent_p.A120A|CEP192_uc002kry.2_RNA	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	2116										ovary(4)|pancreas(1)	5						TCTCACGGGCGGCTCGCCCGC	0.542												
C18orf1	753	broad.mit.edu	37	18	13645411	13645411	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:13645411G>A	uc002ksa.2	+	7	1344	c.676G>A	c.(676-678)GGG>AGG	p.G226R	C18orf1_uc002ksb.2_Missense_Mutation_p.G208R|C18orf1_uc002kse.2_Missense_Mutation_p.G189R|C18orf1_uc002ksf.2_Missense_Mutation_p.G171R|C18orf1_uc002ksg.1_Missense_Mutation_p.G149R|C18orf1_uc002ksh.1_Missense_Mutation_p.G168R|C18orf1_uc002ksi.1_Missense_Mutation_p.G150R	NM_181481	NP_852146	O15165	CR001_HUMAN	hypothetical protein LOC753 isoform alpha 1	226	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)|skin(1)	3				READ - Rectum adenocarcinoma(73;0.0642)		TATGTATAGCGGGGGTCCATG	0.567												
MC5R	4161	broad.mit.edu	37	18	13826187	13826187	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:13826187C>T	uc010xaf.1	+	1	423	c.423C>T	c.(421-423)TAC>TAT	p.Y141Y		NM_005913	NP_005904	P33032	MC5R_HUMAN	melanocortin 5 receptor	141	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			ovary(3)|lung(2)|breast(1)	6						TGGATAGGTACGTCACCATCT	0.577												
LAMA3	3909	broad.mit.edu	37	18	21461971	21461971	+	Silent	SNP	C	C	T	rs144191865		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:21461971C>T	uc002kuq.2	+	40	5270	c.5184C>T	c.(5182-5184)CAC>CAT	p.H1728H	LAMA3_uc002kur.2_Silent_p.H1728H|LAMA3_uc002kus.3_Silent_p.H119H|LAMA3_uc002kut.3_Silent_p.H119H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1728	Domain III A.|Laminin EGF-like 13.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGCCGTCCACGGATCCTGCA	0.458												
ZNF521	25925	broad.mit.edu	37	18	22804544	22804544	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:22804544G>A	uc002kvk.2	-	4	3585	c.3338C>T	c.(3337-3339)ACG>ATG	p.T1113M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.T1113M|ZNF521_uc002kvl.2_Missense_Mutation_p.T893M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	1113					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGTCTATTCGTGCCGGGAGG	0.552			T	PAX5	ALL							
KCTD1	284252	broad.mit.edu	37	18	24039762	24039762	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:24039762C>T	uc002kvw.2	-	4	997	c.437G>A	c.(436-438)CGT>CAT	p.R146H	KCTD1_uc010xbj.1_Missense_Mutation_p.R754H|KCTD1_uc010xbk.1_Missense_Mutation_p.R146H|KCTD1_uc002kvy.2_Missense_Mutation_p.R64H	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	146					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TGGGGCCACACGCACGACGAG	0.493												
DSC2	1824	broad.mit.edu	37	18	28671067	28671067	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:28671067G>T	uc002kwl.3	-	4	852	c.398C>A	c.(397-399)GCC>GAC	p.A133D	DSC2_uc002kwk.3_Missense_Mutation_p.A133D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	desmocollin 2 isoform Dsc2a preproprotein	133					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCTTCTCTTGGCGCGCCTTAG	0.378												
DSG2	1829	broad.mit.edu	37	18	29122700	29122700	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:29122700T>C	uc002kwu.3	+	14	2407	c.2219T>C	c.(2218-2220)ATG>ACG	p.M740T	uc002kwv.3_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	740	Cytoplasmic (Potential).				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GGCGCTATCATGACCACTGAA	0.547												
MEP1B	4225	broad.mit.edu	37	18	29797785	29797785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:29797785C>T	uc002kxj.3	+	14	1995	c.1948C>T	c.(1948-1950)CGA>TGA	p.R650*		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	650	Extracellular (Potential).				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						AGGCTCCACCCGAGACACCAT	0.468												
C18orf34	374864	broad.mit.edu	37	18	30792020	30792020	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:30792020C>A	uc002kxn.2	-	19	2221	c.2079_splice	c.e19-1	p.K693_splice	C18orf34_uc010dme.1_Splice_Site_p.K207_splice|C18orf34_uc010xbr.1_Splice_Site_p.K693_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.K655_splice|C18orf34_uc002kxp.2_Splice_Site_p.K693_splice	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1											ovary(1)	1						AAATTTGTTCCTGTGAAGAAA	0.294												
ASXL3	80816	broad.mit.edu	37	18	31325236	31325236	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:31325236G>T	uc010dmg.1	+	12	5479	c.5424G>T	c.(5422-5424)AAG>AAT	p.K1808N	ASXL3_uc002kxq.2_Missense_Mutation_p.K1515N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CAGATGGTAAGGGCTACTTGG	0.483												
SETBP1	26040	broad.mit.edu	37	18	42530475	42530475	+	Silent	SNP	C	C	T	rs8091231	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:42530475C>T	uc010dni.2	+	4	1466	c.1170C>T	c.(1168-1170)GCC>GCT	p.A390A		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	390						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGAGTTCTGCCAGTAATCCTG	0.473									Schinzel-Giedion_syndrome			
ATP5A1	498	broad.mit.edu	37	18	43667339	43667339	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:43667339C>G	uc002lbr.1	-	7	1009	c.919G>C	c.(919-921)GCT>CCT	p.A307P	ATP5A1_uc010dnl.1_Missense_Mutation_p.A257P|ATP5A1_uc002lbs.1_Missense_Mutation_p.A257P|ATP5A1_uc002lbt.1_Missense_Mutation_p.A307P	NM_004046	NP_004037	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1	307					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism				0						ATGATCAAAGCATGTTTGCCA	0.418												
RNF165	494470	broad.mit.edu	37	18	44015310	44015310	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:44015310G>A	uc002lcb.1	+	3	487	c.436G>A	c.(436-438)GGC>AGC	p.G146S	RNF165_uc002lby.1_Missense_Mutation_p.G79S|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	ring finger protein 165	146							zinc ion binding				0				READ - Rectum adenocarcinoma(1;0.0873)		CTTCGACTTCGGCCAACTGCA	0.537												
TCEB3B	51224	broad.mit.edu	37	18	44560278	44560278	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:44560278G>A	uc002lcr.1	-	1	1711	c.1358C>T	c.(1357-1359)ACG>ATG	p.T453M	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	453					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						GCTGGGCACCGTTTTCGGCCC	0.602												
KATNAL2	83473	broad.mit.edu	37	18	44627353	44627353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:44627353C>T	uc002lco.2	+	15	1572	c.1378C>T	c.(1378-1380)CAA>TAA	p.Q460*	KATNAL2_uc002lcp.3_Nonsense_Mutation_p.Q387*	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	532						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						CTCAGACTGGCAAAGAGAGTT	0.478											OREG0024959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DYM	54808	broad.mit.edu	37	18	46783465	46783465	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:46783465G>T	uc002ldi.1	-	13	1740	c.1375C>A	c.(1375-1377)CTT>ATT	p.L459I	DYM_uc010xdf.1_Missense_Mutation_p.L269I|DYM_uc002ldj.3_Missense_Mutation_p.L281I|DYM_uc010dov.1_Missense_Mutation_p.L9I	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	dymeclin	459						Golgi apparatus					0						TTTGTGTGAAGGTACTTGTCC	0.378												
STARD6	147323	broad.mit.edu	37	18	51855760	51855760	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:51855760C>T	uc010xdt.1	-	5	436	c.436G>A	c.(436-438)GGT>AGT	p.G146S		NM_139171	NP_631910	P59095	STAR6_HUMAN	START domain containing protein 6	146	START.				lipid transport		lipid binding			ovary(1)	1				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		TGGTTATAACCGCGGATATAA	0.308												
FECH	2235	broad.mit.edu	37	18	55238742	55238742	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:55238742T>C	uc002lgq.3	-	4	462	c.345A>G	c.(343-345)CGA>CGG	p.R115R	FECH_uc002lgp.3_Silent_p.R121R|FECH_uc002lgr.3_5'UTR	NM_000140	NP_000131	P22830	HEMH_HUMAN	ferrochelatase isoform b precursor	115					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)	1		Colorectal(73;0.227)				TCTTGGGGGTTCGGCGTTTGG	0.478												
ZCCHC2	54877	broad.mit.edu	37	18	60232310	60232310	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:60232310C>T	uc002lip.3	+	11	1827	c.1827C>T	c.(1825-1827)GCC>GCT	p.A609A	ZCCHC2_uc002lio.2_RNA|ZCCHC2_uc002liq.2_Silent_p.A79A	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	609					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						CTCAGCATGCCCATGGTGGTA	0.338												
DSEL	92126	broad.mit.edu	37	18	65178220	65178220	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:65178220T>C	uc002lke.1	-	2	4880	c.3656A>G	c.(3655-3657)AAG>AGG	p.K1219R		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1209						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GTCCATAAACTTTGGATATCC	0.353												
DOK6	220164	broad.mit.edu	37	18	67266666	67266666	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:67266666A>G	uc002lkl.2	+	3	411	c.221A>G	c.(220-222)GAG>GGG	p.E74G		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	74	PH.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGCCCCGAGAGACAAAGAAG	0.398												
SOCS6	9306	broad.mit.edu	37	18	67992757	67992757	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:67992757G>A	uc002lkr.1	+	2	1169	c.853G>A	c.(853-855)GTG>ATG	p.V285M	SOCS6_uc010dqq.2_Missense_Mutation_p.V285M	NM_004232	NP_004223	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	285					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				large_intestine(1)|lung(1)	2		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGATCAGTCCGTGAATGGCTT	0.577												
NETO1	81832	broad.mit.edu	37	18	70526084	70526084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:70526084G>T	uc002lkw.2	-	4	730	c.446C>A	c.(445-447)TCA>TAA	p.S149*	NETO1_uc002lkx.1_Nonsense_Mutation_p.S148*|NETO1_uc002lky.1_Nonsense_Mutation_p.S149*|NETO1_uc002lkz.2_Nonsense_Mutation_p.S148*	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	149	CUB 1.|Extracellular (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTATCGAGCTGAAAATCCCAT	0.328												
ZNF407	55628	broad.mit.edu	37	18	72344495	72344495	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:72344495G>A	uc002llw.2	+	1	1577	c.1520G>A	c.(1519-1521)CGT>CAT	p.R507H	ZNF407_uc010xfc.1_Missense_Mutation_p.R507H|ZNF407_uc010dqu.1_Missense_Mutation_p.R507H|ZNF407_uc002llu.2_Missense_Mutation_p.R506H	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGAGTGCCCGTCCTCCGGAC	0.572												
ZNF516	9658	broad.mit.edu	37	18	74083491	74083491	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:74083491C>T	uc010dqx.1	-	6	3530	c.3295G>A	c.(3295-3297)GTC>ATC	p.V1099I	ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	1099	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TCGATGCAGACGAACTCTCCT	0.692												
ATP9B	374868	broad.mit.edu	37	18	77107848	77107848	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:77107848G>A	uc002lmx.2	+	24	2775	c.2761G>A	c.(2761-2763)GGG>AGG	p.G921R	ATP9B_uc002lmw.1_Missense_Mutation_p.G921R|ATP9B_uc002lmz.1_Missense_Mutation_p.G615R|ATP9B_uc002lna.2_5'UTR|ATP9B_uc002lnb.1_Missense_Mutation_p.G41R|ATP9B_uc010drb.2_RNA	NM_198531	NP_940933	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	921	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)	3		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CATGGTGCACGGGCGGAACAG	0.607												
NFATC1	4772	broad.mit.edu	37	18	77246402	77246402	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:77246402G>A	uc010xfg.1	+	9	2700	c.2247G>A	c.(2245-2247)CCG>CCA	p.P749P	NFATC1_uc002lnd.2_Silent_p.P749P|NFATC1_uc002lne.2_Silent_p.P277P|NFATC1_uc010xfh.1_Intron|NFATC1_uc010xfj.1_Silent_p.P277P|NFATC1_uc002lnf.2_Silent_p.P736P|NFATC1_uc002lng.2_Silent_p.P736P|NFATC1_uc010xfk.1_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	749	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGGCTTCCCGCCCTGTCCGC	0.672												
CDC34	997	broad.mit.edu	37	19	541398	541398	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:541398C>T	uc002lov.2	+	5	756	c.557C>T	c.(556-558)ACG>ATG	p.T186M	GZMM_uc002low.1_5'Flank	NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	186					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCCCACCACGCTGGCCGAG	0.687												
MED16	10025	broad.mit.edu	37	19	886015	886015	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:886015G>A	uc002lqd.1	-	5	785	c.634C>T	c.(634-636)CGC>TGC	p.R212C	MED16_uc010drw.1_Missense_Mutation_p.R37C|MED16_uc002lqe.2_Missense_Mutation_p.R201C|MED16_uc002lqf.2_Missense_Mutation_p.R201C|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.R201C|MED16_uc010xfx.1_Intron|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	212	WD 2.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGCCACGCGGCCGCGCAGC	0.716												
ABCA7	10347	broad.mit.edu	37	19	1058844	1058844	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1058844C>A	uc002lqw.3	+	39	5536	c.5305C>A	c.(5305-5307)CTG>ATG	p.L1769M	ABCA7_uc002lqy.2_Missense_Mutation_p.L222M|ABCA7_uc010dsc.2_RNA	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1769					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCCACTCCTGGGAGAGGA	0.597												
HMHA1	23526	broad.mit.edu	37	19	1083158	1083158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1083158C>T	uc002lqz.1	+	21	2992	c.2761C>T	c.(2761-2763)CAG>TAG	p.Q921*	HMHA1_uc010xgd.1_Nonsense_Mutation_p.Q937*|HMHA1_uc010xge.1_Nonsense_Mutation_p.Q789*|HMHA1_uc002lra.1_Nonsense_Mutation_p.Q761*|HMHA1_uc002lrb.1_Nonsense_Mutation_p.Q804*|HMHA1_uc002lrc.1_Nonsense_Mutation_p.Q556*|HMHA1_uc002lrd.1_5'UTR|HMHA1_uc010dsd.1_Nonsense_Mutation_p.Q27*	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	921	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTGGAGCAGGACAACAA	0.701												
STK11	6794	broad.mit.edu	37	19	1223113	1223113	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1223113C>T	uc002lrl.1	+	8	2165	c.1050C>T	c.(1048-1050)GAC>GAT	p.D350D		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	350					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.D350D(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACGAGGACGAGGACCTCT	0.652		14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)		
MIDN	90007	broad.mit.edu	37	19	1257093	1257093	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1257093G>A	uc002lrp.2	+	8	1744	c.1229G>A	c.(1228-1230)CGG>CAG	p.R410Q		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	midnolin	410						nucleolus					0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCCCGGCGGGACGCGCGG	0.721												
NDUFS7	374291	broad.mit.edu	37	19	1390972	1390972	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1390972C>T	uc002lse.3	+	5	374	c.331C>T	c.(331-333)CGC>TGC	p.R111C	NDUFS7_uc002lsf.2_Missense_Mutation_p.R175C|NDUFS7_uc002lsh.2_Missense_Mutation_p.R175C|NDUFS7_uc002lsg.2_Missense_Mutation_p.R118C	NM_024407	NP_077718	O75251	NDUS7_HUMAN	NADH-ubiquinone oxidoreductase Fe-S protein 7	111					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CGTGGTCTTCCGCGCCAGCCC	0.662												
APC2	10297	broad.mit.edu	37	19	1465252	1465252	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1465252A>C	uc002lsr.1	+	15	2160	c.1952A>C	c.(1951-1953)AAC>ACC	p.N651T	APC2_uc002lss.1_Missense_Mutation_p.N233T|APC2_uc002lst.1_Missense_Mutation_p.N651T|APC2_uc002lsu.1_Missense_Mutation_p.N650T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	adenomatosis polyposis coli 2	651	ARM 5.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|pancreas(1)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCTCTGGAACCTGTCGGCC	0.642												
PCSK4	54760	broad.mit.edu	37	19	1488257	1488257	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1488257G>A	uc002ltb.1	-	3	379	c.317C>T	c.(316-318)ACG>ATG	p.T106M	PCSK4_uc002lta.2_Translation_Start_Site|REEP6_uc010xgp.1_5'Flank|REEP6_uc002ltc.2_5'Flank	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	106					proteolysis	integral to membrane	serine-type endopeptidase activity				0		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTGCAGCGTCTGCTGCTG	0.672												
ADAMTSL5	339366	broad.mit.edu	37	19	1506232	1506232	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1506232G>A	uc002ltd.2	-	12	1642	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.R169C|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.R410C	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5 precursor	400	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGGCGAGCGGTTCTTGTAG	0.677												
MBD3	53615	broad.mit.edu	37	19	1592581	1592581	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1592581C>A	uc002ltl.1	-	1	72	c.50G>T	c.(49-51)AGG>ATG	p.R17M	MBD3_uc002ltj.2_Missense_Mutation_p.R17M|MBD3_uc002ltk.2_Intron	NM_003926	NP_003917	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	17	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			ovary(1)|pancreas(1)|skin(1)	3		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTTCTTCCCTCTCCCAGCC	0.577												
KLF16	83855	broad.mit.edu	37	19	1854753	1854753	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1854753C>T	uc002luc.2	-	2	532	c.464G>A	c.(463-465)CGC>CAC	p.R155H	KLF16_uc010xgt.1_RNA	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN	BTE-binding protein 4	155						nucleus	DNA binding|zinc ion binding				0		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAAAAGGGCGTTCCCCTGG	0.657												
ADAT3	113179	broad.mit.edu	37	19	1912913	1912913	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1912913C>T	uc002luh.2	+	2	1047	c.819C>T	c.(817-819)GAC>GAT	p.D273D	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.2_Intron|SCAMP4_uc002luk.2_Intron|SCAMP4_uc010dss.2_Intron	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	tRNA-specific adenosine deaminase 3	273					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACGAGGACGGCCTCCCCT	0.706												
BTBD2	55643	broad.mit.edu	37	19	1990129	1990129	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1990129G>A	uc002lup.1	-	5	862	c.862C>T	c.(862-864)CGC>TGC	p.R288C	BTBD2_uc002luo.1_5'UTR	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	288						cytoplasmic mRNA processing body	protein binding			ovary(1)|skin(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGACCAGCGGACAACGGCA	0.657												
JSRP1	126306	broad.mit.edu	37	19	2255290	2255290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:2255290C>T	uc002lvi.1	-	1	59	c.24G>A	c.(22-24)TGG>TGA	p.W8*	JSRP1_uc002lvj.1_Nonsense_Mutation_p.W8*	NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	8	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTCCTCCCAGGCTCTGG	0.652												
LMNB2	84823	broad.mit.edu	37	19	2431600	2431600	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:2431600C>T	uc002lvy.2	-	11	1794	c.1707G>A	c.(1705-1707)GGG>GGA	p.G569G	LMNB2_uc010dtc.1_5'Flank|LMNB2_uc002lwa.1_Silent_p.G589G	NM_032737	NP_116126	Q03252	LMNB2_HUMAN	lamin B2	569	Tail.					nuclear inner membrane	structural molecule activity			large_intestine(1)|ovary(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTTCCTCCCCATTCTCAT	0.627												
TLE2	7089	broad.mit.edu	37	19	3009627	3009627	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3009627G>A	uc002lww.2	-	13	1349	c.1086C>T	c.(1084-1086)AAC>AAT	p.N362N	TLE2_uc010xhb.1_Intron|TLE2_uc010dth.2_Silent_p.N363N|TLE2_uc010xhc.1_Silent_p.N240N|TLE2_uc010dti.2_Silent_p.N376N|TLE2_uc010xhd.1_Silent_p.N270N	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	362	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGTCTCCGTTGAGAGTGC	0.647												
NCLN	56926	broad.mit.edu	37	19	3193377	3193377	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3193377G>T	uc002lxi.2	+	3	625	c.471G>T	c.(469-471)AAG>AAT	p.K157N	NCLN_uc002lxh.1_RNA	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	157	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCTACAAGCAGACCCAGG	0.667												
DOHH	83475	broad.mit.edu	37	19	3496774	3496774	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3496774C>T	uc002lxs.2	-	2	202	c.39G>A	c.(37-39)ACG>ACA	p.T13T	DOHH_uc010xhl.1_Silent_p.T13T	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	13					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCACCAGCGTCTGCCCGA	0.687												
C19orf28	126321	broad.mit.edu	37	19	3544813	3544813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3544813G>A	uc002lxz.2	-	9	1584	c.1414C>T	c.(1414-1416)CGA>TGA	p.R472*	C19orf28_uc002lxw.2_Nonsense_Mutation_p.R472*|C19orf28_uc002lxx.2_Nonsense_Mutation_p.R472*|C19orf28_uc002lxy.2_Nonsense_Mutation_p.R463*	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN	hypothetical protein LOC126321 isoform c	472					transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACAGCGTCGCAGGCGGGTC	0.672											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C19orf29	58509	broad.mit.edu	37	19	3613518	3613518	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3613518C>A	uc002lyh.2	-	8	1475	c.1422G>T	c.(1420-1422)GTG>GTT	p.V474V	C19orf29_uc010xho.1_5'UTR|C19orf29_uc010dtn.2_Silent_p.V322V|C19orf29_uc002lyi.3_Silent_p.V474V|C19orf29_uc010dto.2_RNA|C19orf29_uc010xhp.1_RNA	NM_001080543	NP_001074012	Q8WUQ7	CS029_HUMAN	chromosome 19 open reading frame 29	474						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)		GCTCGCTCTCCACGCCCTGCT	0.706												
PIAS4	51588	broad.mit.edu	37	19	4037657	4037657	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4037657C>T	uc002lzg.2	+	11	1327	c.1317C>T	c.(1315-1317)AAC>AAT	p.N439N		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	439					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCGTCAACGGGAGCGGTG	0.682												
ZBTB7A	51341	broad.mit.edu	37	19	4054897	4054897	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4054897G>A	uc002lzh.2	-	2	409	c.334C>T	c.(334-336)CGC>TGC	p.R112C	ZBTB7A_uc002lzi.2_Missense_Mutation_p.R112C	NM_015898	NP_056982	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	112					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			pancreas(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCAGGCGGGCGGCGCTG	0.721												
ANKRD24	170961	broad.mit.edu	37	19	4207271	4207271	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4207271C>A	uc010dtt.1	+	8	775	c.499C>A	c.(499-501)CTC>ATC	p.L167I	ANKRD24_uc002lzs.2_Missense_Mutation_p.L138I|ANKRD24_uc002lzt.2_Missense_Mutation_p.L139I	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	167	ANK 3.										0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTCAGAGGTGCTCTGCTCCTT	0.408											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EBI3	10148	broad.mit.edu	37	19	4234811	4234811	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4234811G>A	uc002lzu.2	+	4	535	c.527G>A	c.(526-528)CGC>CAC	p.R176H		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3 precursor	176	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCTGCGCGCTTCCACCGG	0.607												
SH3GL1	6455	broad.mit.edu	37	19	4363850	4363850	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4363850C>T	uc002maj.2	-	6	597	c.491G>A	c.(490-492)CGC>CAC	p.R164H	SH3GL1_uc002mak.2_Missense_Mutation_p.R100H|SH3GL1_uc010xig.1_Missense_Mutation_p.R116H	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	164	Potential.|BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTCCAGGCGGCGGCCCTCCAG	0.627			T	MLL	AL							
CHAF1A	10036	broad.mit.edu	37	19	4433182	4433182	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4433182G>A	uc002mal.2	+	13	2419	c.2319G>A	c.(2317-2319)CCG>CCA	p.P773P		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	773	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCAGCCCGCGGAGCCCCT	0.662								Chromatin_Structure				
HDGFRP2	84717	broad.mit.edu	37	19	4499549	4499549	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4499549T>G	uc002mao.2	+	14	1730	c.1637T>G	c.(1636-1638)CTC>CGC	p.L546R	HDGFRP2_uc002map.2_Missense_Mutation_p.L546R|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.L11R|HDGFRP2_uc002maq.1_Missense_Mutation_p.L11R	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	hepatoma-derived growth factor-related protein 2	546	Potential.				transcription, DNA-dependent	nucleus	DNA binding|protein binding				0						TATACCCGGCTCAAGTCGCGG	0.363												
TICAM1	148022	broad.mit.edu	37	19	4817841	4817841	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4817841G>A	uc002mbi.2	-	2	800	c.549C>T	c.(547-549)GAC>GAT	p.D183D		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	183					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGAAACACCGTCAATGGGGC	0.647												
PTPRS	5802	broad.mit.edu	37	19	5221061	5221061	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5221061G>A	uc002mbv.2	-	20	3639	c.3405C>T	c.(3403-3405)GAC>GAT	p.D1135D	PTPRS_uc002mbu.1_Silent_p.D704D|PTPRS_uc010xin.1_Silent_p.D704D|PTPRS_uc002mbw.2_Silent_p.D1113D|PTPRS_uc002mbx.2_Silent_p.D708D|PTPRS_uc002mby.2_Silent_p.D704D	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1135	Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGATGAAGCCGTCAGCATCAG	0.612												
PTPRS	5802	broad.mit.edu	37	19	5222792	5222792	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5222792G>A	uc002mbv.2	-	18	3245	c.3011C>T	c.(3010-3012)ACG>ATG	p.T1004M	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Missense_Mutation_p.T982M|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1004	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCATAGGCCGTGTCGGGCTT	0.741												
DUS3L	56931	broad.mit.edu	37	19	5785755	5785755	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5785755C>T	uc002mdc.2	-	11	1707	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.R295Q|DUS3L_uc010duk.2_Missense_Mutation_p.R202Q	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	537					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0						GTCCCAGTGCCGCTGCTCCTT	0.662												
FUT3	2525	broad.mit.edu	37	19	5844280	5844280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5844280C>T	uc002mdk.2	-	2	668	c.571G>A	c.(571-573)GAG>AAG	p.E191K	FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	191	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0						GCCACCAGCTCGGTCTTGGCC	0.667												
C3	718	broad.mit.edu	37	19	6702207	6702207	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:6702207T>C	uc002mfm.2	-	19	2433	c.2371A>G	c.(2371-2373)ATG>GTG	p.M791V		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	791					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AATATATTCATGAGCTTCGTA	0.517												
ARHGEF18	23370	broad.mit.edu	37	19	7521218	7521218	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:7521218C>A	uc002mgi.2	+	8	1799	c.1546C>A	c.(1546-1548)CTG>ATG	p.L516M	ARHGEF18_uc010xjm.1_Missense_Mutation_p.L358M|ARHGEF18_uc002mgh.2_Missense_Mutation_p.L358M|ARHGEF18_uc002mgj.1_Missense_Mutation_p.L159M	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor 18	516	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1		Renal(5;0.0902)				CCCAGATATCCTGGCTATCCT	0.498												
FBN3	84467	broad.mit.edu	37	19	8171032	8171032	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8171032T>C	uc002mjf.2	-	37	4794	c.4773A>G	c.(4771-4773)CCA>CCG	p.P1591P		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1591	EGF-like 24; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						GGTAGCCAGGTGGGCACTCAC	0.592												
RAB11B	9230	broad.mit.edu	37	19	8468313	8468313	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8468313G>A	uc002mju.3	+	5	624	c.528G>A	c.(526-528)GTG>GTA	p.V176V		NM_004218	NP_004209	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	176					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity				0						ACCGCATCGTGTCACAGAAAC	0.657												
MYO1F	4542	broad.mit.edu	37	19	8595204	8595204	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8595204A>T	uc002mkg.2	-	21	2318	c.2204T>A	c.(2203-2205)ATC>AAC	p.I735N		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	735						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						GTTCCGATTGATGCTGTTGCG	0.627												
ADAMTS10	81794	broad.mit.edu	37	19	8668765	8668765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:8668765C>T	uc002mkj.1	-	5	713	c.439G>A	c.(439-441)GGC>AGC	p.G147S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1	147					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			pancreas(2)|skin(2)	4						ACGATCAGGCCGTGCTGGGTT	0.537												
COL5A3	50509	broad.mit.edu	37	19	10107118	10107118	+	Missense_Mutation	SNP	C	C	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10107118C>G	uc002mmq.1	-	13	1499	c.1413G>C	c.(1411-1413)CAG>CAC	p.Q471H		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein	471	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCTGAGTCTGCTGCAGAACTG	0.582												
EIF3G	8666	broad.mit.edu	37	19	10226486	10226486	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10226486G>A	uc002mnd.2	-	9	778	c.714C>T	c.(712-714)AAC>AAT	p.N238N		NM_003755	NP_003746	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3,	238						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GGATGGTGGCGTTGTCGTCGG	0.642												
ICAM4	3386	broad.mit.edu	37	19	10398019	10398019	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10398019G>A	uc002mns.1	+	1	370	c.331G>A	c.(331-333)GCG>ACG	p.A111T	ICAM4_uc002mnr.1_Missense_Mutation_p.A111T|ICAM4_uc002mnt.1_Missense_Mutation_p.A111T|ICAM5_uc002mnu.3_5'Flank	NM_001544	NP_001535	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 isoform 1	111	Ig-like C2-type 1.|Extracellular (Potential).				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCTCCCTCGCGCACTGCCT	0.677												
ICAM5	7087	broad.mit.edu	37	19	10402911	10402911	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10402911G>A	uc002mnu.3	+	4	939	c.874G>A	c.(874-876)GCA>ACA	p.A292T	ICAM5_uc002mnv.3_Missense_Mutation_p.A167T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	292	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACAGCTAGCGCAGAGCAGGA	0.627												
DNM2	1785	broad.mit.edu	37	19	10940880	10940880	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10940880G>T	uc002mps.1	+	20	2533	c.2369G>T	c.(2368-2370)GGG>GTG	p.G790V	DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.G790V|DNM2_uc002mpv.1_Missense_Mutation_p.G786V|DNM2_uc002mpu.1_Missense_Mutation_p.G786V|DNM2_uc010dxl.1_Missense_Mutation_p.G790V|DNM2_uc002mpw.2_Missense_Mutation_p.G519V|DNM2_uc002mpx.1_Missense_Mutation_p.G146V	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	790	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCACTCCAGGGCCCCCCCTG	0.692												
LDLR	3949	broad.mit.edu	37	19	11216183	11216183	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:11216183G>A	uc002mqk.3	+	4	769	c.601G>A	c.(601-603)GAG>AAG	p.E201K	LDLR_uc010xlk.1_Missense_Mutation_p.E201K|LDLR_uc010xll.1_Missense_Mutation_p.E160K|LDLR_uc010xlm.1_Missense_Mutation_p.E54K|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	201	LDL-receptor class A 5.|Extracellular (Potential).				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTCGGCCTTCGAGTTCCACTG	0.607												
NACC1	112939	broad.mit.edu	37	19	13246173	13246173	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:13246173G>A	uc002mwm.2	+	2	320	c.152G>A	c.(151-153)AGC>AAC	p.S51N		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	51	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0						CTTGCTGCCAGCAGCTCCTAC	0.637												
CACNA1A	773	broad.mit.edu	37	19	13394195	13394195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:13394195G>T	uc010dze.2	-	22	3947	c.3711C>A	c.(3709-3711)TGC>TGA	p.C1237*	CACNA1A_uc010dzc.2_Nonsense_Mutation_p.C762*|CACNA1A_uc002mwy.3_Nonsense_Mutation_p.C1236*|CACNA1A_uc010xne.1_Nonsense_Mutation_p.C765*	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1237	III.|Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGATGTAATGGCACAGGCGGC	0.562												
C19orf57	79173	broad.mit.edu	37	19	14000816	14000816	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:14000816T>A	uc002mxl.1	-	6	912	c.853A>T	c.(853-855)ACC>TCC	p.T285S	C19orf57_uc002mxk.1_Missense_Mutation_p.T167S|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	285					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGCCTGAGGTAGGAGCTGAT	0.706												
CCDC105	126402	broad.mit.edu	37	19	15124536	15124536	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15124536G>T	uc002nae.2	+	2	722	c.623G>T	c.(622-624)AGC>ATC	p.S208I		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	208	Potential.				microtubule cytoskeleton organization	microtubule				ovary(1)	1						GAGCTGAAAAGCATGAAGAGG	0.498												
NOTCH3	4854	broad.mit.edu	37	19	15281358	15281358	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15281358G>A	uc002nan.2	-	27	4974	c.4898C>T	c.(4897-4899)CCG>CTG	p.P1633L		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	1633	Extracellular (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGCTCCAGCGGCTCCCCTAA	0.716												
BRD4	23476	broad.mit.edu	37	19	15365024	15365024	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15365024C>T	uc002nar.2	-	11	2319	c.2097G>A	c.(2095-2097)TCG>TCA	p.S699S	BRD4_uc002nas.2_Silent_p.S699S|BRD4_uc002nat.3_Silent_p.S699S	NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	699	Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACTCTGAGGACGAGAAGCCCT	0.542			T	NUT|C15orf55	lethal midline carcinoma of young people							
AKAP8	10270	broad.mit.edu	37	19	15483948	15483948	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15483948T>C	uc002nav.2	-	5	636	c.575A>G	c.(574-576)CAG>CGG	p.Q192R	AKAP8_uc010dzy.2_5'UTR|AKAP8_uc010dzz.1_RNA|AKAP8_uc010xog.1_Missense_Mutation_p.Q6R	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	192					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GAAGCGGCCCTGGCCCCGGCC	0.701												
CHERP	10523	broad.mit.edu	37	19	16631266	16631266	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:16631266G>A	uc002nei.1	-	14	2328	c.2254C>T	c.(2254-2256)CGC>TGC	p.R752C	MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.R291C	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum	752	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			ovary(2)	2						GAGTTGGAGCGGGAGGAAGAA	0.607												
UNC13A	23025	broad.mit.edu	37	19	17758169	17758169	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:17758169G>A	uc002nhd.2	-	17	2213	c.2213C>T	c.(2212-2214)GCG>GTG	p.A738V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	650					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						CTTGGTCACCGCGAAGATCTC	0.597												
ARRDC2	27106	broad.mit.edu	37	19	18119538	18119538	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:18119538C>T	uc002nhv.2	+	2	436	c.293C>T	c.(292-294)ACG>ATG	p.T98M	ARRDC2_uc002nhu.2_Missense_Mutation_p.T93M	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2 isoform 1	98								p.R98C(1)		pancreas(1)	1						GAGACCACGACGCTGCCTCCT	0.642												
KLHL26	55295	broad.mit.edu	37	19	18778890	18778890	+	Missense_Mutation	SNP	G	G	A	rs148044384		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:18778890G>A	uc002njz.1	+	3	710	c.683G>A	c.(682-684)CGC>CAC	p.R228H		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	kelch-like 26	228	BACK.									ovary(1)	1						GACCTGTTCCGCGCGGCCGTC	0.577												
UPF1	5976	broad.mit.edu	37	19	18956893	18956893	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:18956893C>A	uc002nkg.2	+	2	611	c.336C>A	c.(334-336)ACC>ACA	p.T112T	UPF1_uc002nkf.2_Silent_p.T112T	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	112	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AAGAAGACACCTATTACACGA	0.597												
SFRS14	10147	broad.mit.edu	37	19	19106069	19106069	+	Silent	SNP	G	G	A	rs143289736		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19106069G>A	uc002nkx.2	-	9	3158	c.3012C>T	c.(3010-3012)TTC>TTT	p.F1004F	SFRS14_uc002nkz.1_Silent_p.F1018F|SFRS14_uc002nla.1_Silent_p.F1004F|SFRS14_uc002nlb.2_Silent_p.F1004F|SFRS14_uc010xqk.1_Silent_p.F773F	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	1004					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			TCTGCTGGGCGAAGTCCAAGT	0.592												
ARMC6	93436	broad.mit.edu	37	19	19162461	19162461	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19162461A>T	uc002nld.2	+	5	658	c.310A>T	c.(310-312)AGC>TGC	p.S104C	ARMC6_uc002nlc.2_Missense_Mutation_p.S79C|ARMC6_uc010xql.1_Missense_Mutation_p.S11C|ARMC6_uc002nle.2_Missense_Mutation_p.S79C|ARMC6_uc010xqm.1_Missense_Mutation_p.S104C	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	104							protein binding				0			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GTCTGTGGCCAGCTCTCGCCC	0.612												
NCAN	1463	broad.mit.edu	37	19	19338121	19338121	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19338121C>A	uc002nlz.2	+	8	1791	c.1692C>A	c.(1690-1692)CCC>CCA	p.P564P	NCAN_uc010ecc.1_Silent_p.P128P	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	564					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			CCCCAGAGCCCTGGCTGTGGC	0.612												
TSSK6	83983	broad.mit.edu	37	19	19626126	19626126	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19626126G>A	uc002nmr.2	-	1	344	c.111C>T	c.(109-111)ACC>ACT	p.T37T	TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	37	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			stomach(1)	1						TGATGGCCACGGTACCCTTGT	0.612												
GMIP	51291	broad.mit.edu	37	19	19741101	19741101	+	Missense_Mutation	SNP	G	G	A	rs138311100		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19741101G>A	uc002nnd.2	-	21	2701	c.2584C>T	c.(2584-2586)CGT>TGT	p.R862C	LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Missense_Mutation_p.R836C|GMIP_uc010xrc.1_Missense_Mutation_p.R833C	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	862					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						AAGTGGCCACGAGACTGTGTC	0.622												
ZNF14	7561	broad.mit.edu	37	19	19822955	19822955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19822955G>A	uc002nnk.1	-	4	1289	c.1135C>T	c.(1135-1137)CGA>TGA	p.R379*		NM_021030	NP_066358	P17017	ZNF14_HUMAN	zinc finger protein 14	379	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Renal(1328;0.0474)				TCATGCAATCGAAGAGAAATG	0.378												
DPY19L3	147991	broad.mit.edu	37	19	32971337	32971337	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:32971337G>T	uc002ntg.2	+	18	2039	c.1863G>T	c.(1861-1863)GAG>GAT	p.E621D	DPY19L3_uc002nth.1_Missense_Mutation_p.E621D|DPY19L3_uc002nti.1_RNA|DPY19L3_uc002ntj.1_Missense_Mutation_p.E43D	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	621						integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)					GGGCACCAGAGGAAGTGCATG	0.517												
RHPN2	85415	broad.mit.edu	37	19	33486994	33486994	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:33486994G>A	uc002nuf.2	-	11	1424	c.1358C>T	c.(1357-1359)ACG>ATG	p.T453M	RHPN2_uc010xro.1_Missense_Mutation_p.T302M|RHPN2_uc002nue.2_Missense_Mutation_p.T183M	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	453	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					CTGGGCGTACGTGAGCCGGGA	0.627												
LRP3	4037	broad.mit.edu	37	19	33697149	33697149	+	Silent	SNP	C	C	T	rs139298570		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:33697149C>T	uc010edh.2	+	5	1566	c.1473C>T	c.(1471-1473)GCC>GCT	p.A491A	LRP3_uc010xrp.1_Silent_p.A365A|LRP3_uc002nuk.3_Silent_p.A365A	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	491	Extracellular (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					GGTGCCTGGCCGCCGTGCCCC	0.657												
LRP3	4037	broad.mit.edu	37	19	33698276	33698276	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:33698276G>A	uc010edh.2	+	7	2201	c.2108G>A	c.(2107-2109)TGC>TAC	p.C703Y	LRP3_uc002nuk.3_Missense_Mutation_p.C577Y	NM_002333	NP_002324	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein	703	Cytoplasmic (Potential).				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			pancreas(2)|ovary(1)	3	Esophageal squamous(110;0.137)					AGAAAGGTCTGCAGGGAGCCA	0.701												
GPI	2821	broad.mit.edu	37	19	34868469	34868469	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:34868469T>G	uc002nvg.1	+	5	567	c.464T>G	c.(463-465)ATT>AGT	p.I155S	GPI_uc002nvf.2_Missense_Mutation_p.I194S|GPI_uc010xrv.1_Intron|GPI_uc010xrw.1_Intron|GPI_uc010edl.1_Missense_Mutation_p.I155S	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	155					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					GTCATCAACATTGGCATTGGC	0.597												
MAG	4099	broad.mit.edu	37	19	35800942	35800942	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:35800942G>A	uc002nyy.1	+	8	1546	c.1397G>A	c.(1396-1398)AGC>AAC	p.S466N	MAG_uc002nyx.1_Missense_Mutation_p.S466N|MAG_uc010eds.1_Missense_Mutation_p.S441N|MAG_uc002nyz.1_Missense_Mutation_p.S466N	NM_002361	NP_002352	P20916	MAG_HUMAN	myelin associated glycoprotein isoform a	466	Ig-like C2-type 4.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			breast(3)|lung(2)|central_nervous_system(1)|skin(1)	7	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCGGAGCGCAGCGGCCTCGTG	0.677												
RBM42	79171	broad.mit.edu	37	19	36124806	36124806	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36124806C>T	uc002oan.2	+	7	978	c.902C>T	c.(901-903)CCG>CTG	p.P301L	RBM42_uc010eef.2_Missense_Mutation_p.P247L|RBM42_uc002oao.2_Missense_Mutation_p.P279L|RBM42_uc002oap.2_Missense_Mutation_p.P271L|RBM42_uc002oaq.2_Missense_Mutation_p.P272L|RBM42_uc010eeg.2_Missense_Mutation_p.P272L	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	301	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGCCCCTCCCGTTGGAGGTC	0.746												
ARHGAP33	115703	broad.mit.edu	37	19	36277879	36277879	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36277879T>G	uc002obr.1	+	20	2592	c.2507T>G	c.(2506-2508)CTC>CGC	p.L836R	ARHGAP33_uc002obs.1_Missense_Mutation_p.L675R|ARHGAP33_uc002obt.1_Missense_Mutation_p.L700R|ARHGAP33_uc010eel.2_Missense_Mutation_p.L424R|ARHGAP33_uc002obv.1_Missense_Mutation_p.L424R	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	836					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CGCCCCCATCTCATACCCCTG	0.706												
ARHGAP33	115703	broad.mit.edu	37	19	36278542	36278542	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36278542A>G	uc002obs.1	+	21	2677	c.2592A>G	c.(2590-2592)TCA>TCG	p.S864S	ARHGAP33_uc002obt.1_Intron|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.S613S	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						CTGTCCCCTCACAGGTTCCTA	0.701												
NFKBID	84807	broad.mit.edu	37	19	36380854	36380854	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36380854G>A	uc002oci.1	-	11	1400	c.826C>T	c.(826-828)CTG>TTG	p.L276L	NFKBID_uc002och.1_Silent_p.L113L|NFKBID_uc002ocj.1_Silent_p.L291L	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene	276	ANK 6.				inflammatory response	nucleus					0						AGGTTGCGCAGTGTGGGGTCC	0.701												
ZNF420	147923	broad.mit.edu	37	19	37580028	37580028	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:37580028G>A	uc002ofl.2	+	3	223	c.8G>A	c.(7-9)CGG>CAG	p.R3Q		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCATGGCTCGGGTAAATTGG	0.428												
SIPA1L3	23094	broad.mit.edu	37	19	38621145	38621145	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38621145C>T	uc002ohk.2	+	10	3385	c.2876C>T	c.(2875-2877)ACC>ATC	p.T959I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	959					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGTGATGACCAGTGGCTGG	0.627												
CATSPERG	57828	broad.mit.edu	37	19	38853439	38853439	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38853439G>T	uc002oih.3	+	20	2529	c.2442G>T	c.(2440-2442)GAG>GAT	p.E814D	CATSPERG_uc002oig.3_Missense_Mutation_p.E774D|CATSPERG_uc002oif.3_Missense_Mutation_p.E454D|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	814	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2						TGAAGCAGGAGGTCCTGATTA	0.542												
GGN	199720	broad.mit.edu	37	19	38876239	38876239	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38876239T>C	uc002oij.1	-	3	1798	c.1663A>G	c.(1663-1665)ACC>GCC	p.T555A	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Intron	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	555	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCAGGCACGGTAGCTGTAGCT	0.677												
SPRED3	399473	broad.mit.edu	37	19	38886249	38886249	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38886249G>A	uc002oim.2	+	5	701	c.697G>A	c.(697-699)GCC>ACC	p.A233T		NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	233	KBD.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCGCCCCTCGCCCTGTCCAC	0.736												
FAM98C	147965	broad.mit.edu	37	19	38899423	38899423	+	Silent	SNP	C	C	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:38899423C>G	uc002oin.1	+	8	970	c.951C>G	c.(949-951)GGC>GGG	p.G317G	FAM98C_uc002oio.1_Silent_p.G235G|FAM98C_uc010xtz.1_Missense_Mutation_p.P184A	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	317										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ACCGGGGGGGCCGCCCAAATG	0.547												
RYR1	6261	broad.mit.edu	37	19	39005673	39005673	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39005673C>T	uc002oit.2	+	64	9610	c.9480C>T	c.(9478-9480)GAC>GAT	p.D3160D	RYR1_uc002oiu.2_Silent_p.D3160D|RYR1_uc002oiv.1_Silent_p.D80D|RYR1_uc010xuf.1_Silent_p.D80D	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	3160					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGTGGACGACGTCCAGGTCT	0.582											OREG0025449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACTN4	81	broad.mit.edu	37	19	39220045	39220045	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39220045G>A	uc002oja.1	+	21	2768	c.2709G>A	c.(2707-2709)ACG>ACA	p.T903T	ACTN4_uc002ojb.1_Silent_p.T225T	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	903					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTCTCCACGGCCTTGTATG	0.687												
CAPN12	147968	broad.mit.edu	37	19	39230781	39230781	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39230781C>A	uc002ojd.1	-	5	948	c.639G>T	c.(637-639)GAG>GAT	p.E213D		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	213	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GATAGAGCACCTCGCCCACGC	0.627												
TIMM50	92609	broad.mit.edu	37	19	39971205	39971205	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39971205G>A	uc002olu.1	+	1	154	c.21G>A	c.(19-21)CTG>CTA	p.L7L	TIMM50_uc002olt.1_RNA	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	Error:Variant_position_missing_in_Q3ZCQ8_after_alignment					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTTTATCTCTGGGCAATAAGT	0.542												
DLL3	10683	broad.mit.edu	37	19	39997718	39997718	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:39997718G>A	uc002olx.2	+	7	1191	c.1133G>A	c.(1132-1134)CGC>CAC	p.R378H	DLL3_uc002olw.2_Missense_Mutation_p.R378H	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	delta-like 3 protein isoform 1 precursor	378	EGF-like 4.|Extracellular (Potential).				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			central_nervous_system(2)|breast(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGCGCTGCCGCTGCCGCGCC	0.766												
AKT2	208	broad.mit.edu	37	19	40762839	40762839	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:40762839C>T	uc002onf.2	-	3	431	c.169G>A	c.(169-171)GTA>ATA	p.V57I	AKT2_uc010egs.2_Missense_Mutation_p.V57I|AKT2_uc010egt.2_5'UTR|AKT2_uc010xvj.1_5'UTR|AKT2_uc010egu.1_5'UTR|AKT2_uc010xvk.1_Missense_Mutation_p.V57I	NM_001626	NP_001617	P31751	AKT2_HUMAN	AKT2 kinase	57	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)	2			Lung(22;0.000499)			ACACCTGCTACGGAGAAGTTG	0.557			A		ovarian|pancreatic 							
AXL	558	broad.mit.edu	37	19	41744408	41744408	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:41744408C>T	uc010ehj.2	+	8	1218	c.1028C>T	c.(1027-1029)ACG>ATG	p.T343M	CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.T343M|AXL_uc010ehk.2_Missense_Mutation_p.T343M	NM_021913	NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase isoform 1	343	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						ATTAGTGCTACGCGGAATGGG	0.662												
HNRNPUL1	11100	broad.mit.edu	37	19	41810040	41810040	+	Silent	SNP	G	G	A	rs148483967		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:41810040G>A	uc002oqb.3	+	13	2425	c.2136G>A	c.(2134-2136)CCG>CCA	p.P712P	CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.P612P|HNRNPUL1_uc002oqa.3_Silent_p.P612P|HNRNPUL1_uc010ehm.2_Silent_p.P712P|HNRNPUL1_uc002oqc.3_Silent_p.P598P|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.P612P|HNRNPUL1_uc010ehn.2_Silent_p.P612P|HNRNPUL1_uc010eho.2_Silent_p.P612P|HNRNPUL1_uc010xvy.1_Silent_p.P612P|HNRNPUL1_uc010ehp.2_Silent_p.P568P|HNRNPUL1_uc002oqf.3_Silent_p.P236P	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	712	Pro-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			central_nervous_system(1)|skin(1)	2						agcagccaccgccaccaccCA	0.413												
MEGF8	1954	broad.mit.edu	37	19	42879930	42879930	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:42879930G>A	uc002otl.3	+	41	7975	c.7340G>A	c.(7339-7341)CGT>CAT	p.R2447H	MEGF8_uc002otm.3_Missense_Mutation_p.R2055H|MEGF8_uc002otn.3_Missense_Mutation_p.R108H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2514	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)				TTCGTGGTCCGTGTGGCCCCT	0.652												
LIPE	3991	broad.mit.edu	37	19	42909669	42909669	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:42909669C>A	uc002otr.2	-	8	2687	c.2410G>T	c.(2410-2412)GGC>TGC	p.G804C	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	804					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CCCATCATGCCGAGGGCTTTC	0.577												
PSG7	5676	broad.mit.edu	37	19	43433781	43433781	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:43433781T>C	uc002ovl.3	-	4	624	c.522A>G	c.(520-522)CCA>CCG	p.P174P	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Silent_p.P52P	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	174	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				AGCTTGCATCTGGAGTCTCAG	0.532												
RELB	5971	broad.mit.edu	37	19	45515294	45515294	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45515294G>A	uc002paj.1	+	5	390	c.264G>A	c.(262-264)GCG>GCA	p.A88A		NM_006509	NP_006500	Q01201	RELB_HUMAN	reticuloendotheliosis viral oncogene homolog B	88						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGGGCTGCGTCCCTGAGCA	0.746												
ZNF296	162979	broad.mit.edu	37	19	45575278	45575278	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45575278C>T	uc002pao.2	-	3	1066	c.1009G>A	c.(1009-1011)GGG>AGG	p.G337R		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	337					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCAGGAGCCCCGGGTTCCTGG	0.667												
EXOC3L2	90332	broad.mit.edu	37	19	45731456	45731456	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45731456G>A	uc002pay.1	-	3	200	c.159C>T	c.(157-159)GAC>GAT	p.D53D		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	53										ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TGCTGGGCTGGTCCTCCAGGC	0.652												
EML2	24139	broad.mit.edu	37	19	46137614	46137614	+	Nonsense_Mutation	SNP	G	G	A	rs35928591		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46137614G>A	uc002pcn.2	-	4	330	c.295C>T	c.(295-297)CGA>TGA	p.R99*	EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Intron|EML2_uc010xxl.1_Nonsense_Mutation_p.R246*|EML2_uc010xxm.1_Nonsense_Mutation_p.R300*|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Nonsense_Mutation_p.R99*|EML2_uc010ekj.2_Nonsense_Mutation_p.R99*	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	99					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGTAGTGTCGCTGCCTCTGC	0.607												
QPCTL	54814	broad.mit.edu	37	19	46205070	46205070	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46205070C>T	uc010xxr.1	+	6	1122	c.901C>T	c.(901-903)CGT>TGT	p.R301C	QPCTL_uc010ekn.2_Missense_Mutation_p.R207C	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	301					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		GCGTCTGCACCGTTTGAACCT	0.567												
FBXO46	23403	broad.mit.edu	37	19	46215486	46215486	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46215486G>A	uc002pcy.2	-	2	1393	c.1268C>T	c.(1267-1269)CCC>CTC	p.P423L	FBXO46_uc002pcz.2_Missense_Mutation_p.P423L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	423							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTCGGCCGGGGGTGGCTCCGG	0.731												
FOXA3	3171	broad.mit.edu	37	19	46375522	46375522	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46375522A>G	uc002pdr.2	+	2	456	c.259A>G	c.(259-261)AGC>GGC	p.S87G		NM_004497	NP_004488	P55318	FOXA3_HUMAN	forkhead box A3	87					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)	1		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CAGCGGTGGCAGCAGCAGCTC	0.731												
IRF2BP1	26145	broad.mit.edu	37	19	46387909	46387909	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46387909G>A	uc002pds.1	-	1	1468	c.1124C>T	c.(1123-1125)GCG>GTG	p.A375V		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGGCGTGGGCGCCAGGTTCCG	0.756												
PRKD2	25865	broad.mit.edu	37	19	47177930	47177930	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47177930C>T	uc002pfh.2	-	19	2829	c.2487G>A	c.(2485-2487)ACG>ACA	p.T829T	PRKD2_uc002pfd.2_Silent_p.T203T|PRKD2_uc010eks.2_Silent_p.T232T|PRKD2_uc010ekt.2_Silent_p.T96T|PRKD2_uc002pfe.2_Silent_p.T359T|PRKD2_uc002pff.2_Silent_p.T349T|PRKD2_uc002pfg.2_Silent_p.T672T|PRKD2_uc002pfi.2_Silent_p.T829T|PRKD2_uc002pfj.2_Silent_p.T829T|PRKD2_uc010xye.1_Silent_p.T839T|PRKD2_uc002pfk.2_Silent_p.T672T	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN	protein kinase D2 isoform A	829					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)		CACTCTCATGCGTGATGTATC	0.637												
GRLF1	2909	broad.mit.edu	37	19	47422911	47422911	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47422911C>T	uc010ekv.2	+	1	979	c.979C>T	c.(979-981)CGC>TGC	p.R327C		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	327	FF 1.				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)		GCACATCCACCGCCTCAAGCA	0.488												
C5AR1	728	broad.mit.edu	37	19	47823236	47823236	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47823236C>T	uc002pgj.1	+	2	251	c.202C>T	c.(202-204)CGG>TGG	p.R68W		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	68	Cytoplasmic (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGAGGCCAAGCGGACCATCAA	0.577												
C5AR1	728	broad.mit.edu	37	19	47823428	47823428	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47823428G>A	uc002pgj.1	+	2	443	c.394G>A	c.(394-396)GCC>ACC	p.A132T		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	132	Helical; Name=3; (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CACCATCAGCGCCGACCGCTT	0.632												
C5AR1	728	broad.mit.edu	37	19	47823993	47823993	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:47823993G>A	uc002pgj.1	+	2	1008	c.959G>A	c.(958-960)CGG>CAG	p.R320Q		NM_001736	NP_001727	P21730	C5AR_HUMAN	complement component 5 receptor 1	320	Cytoplasmic (Potential).				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		AGCCTCCTCCGGAACGTGTTG	0.592												
GRIN2D	2906	broad.mit.edu	37	19	48917652	48917652	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:48917652C>T	uc002pjc.3	+	5	1311	c.1223C>T	c.(1222-1224)ACG>ATG	p.T408M		NM_000836	NP_000827	O15399	NMDE4_HUMAN	N-methyl-D-aspartate receptor subunit 2D	408	Extracellular (Potential).					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			ovary(3)|breast(3)	6		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GAGCAGCAGACGCTCCGCCTC	0.632												
NOSIP	51070	broad.mit.edu	37	19	50059063	50059063	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50059063G>A	uc002pok.2	-	10	1003	c.851C>T	c.(850-852)GCG>GTG	p.A284V	NOSIP_uc002pol.2_Missense_Mutation_p.A284V	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	284					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			skin(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;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TCCGGAGCCCGCGAAGCCGGT	0.647												
CPT1C	126129	broad.mit.edu	37	19	50204806	50204806	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50204806C>T	uc002ppj.2	+	6	813	c.608C>T	c.(607-609)GCG>GTG	p.A203V	CPT1C_uc002ppl.3_Missense_Mutation_p.A169V|CPT1C_uc002ppi.2_Missense_Mutation_p.A120V|CPT1C_uc002ppk.2_Missense_Mutation_p.A203V|CPT1C_uc010eng.2_Missense_Mutation_p.A203V|CPT1C_uc010enh.2_Missense_Mutation_p.A203V|CPT1C_uc010ybc.1_Missense_Mutation_p.A41V	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	203	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GACTGGACCGCGGTCCTGGCG	0.562												
CPT1C	126129	broad.mit.edu	37	19	50208533	50208533	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50208533G>A	uc002ppj.2	+	9	1147	c.942G>A	c.(940-942)ACG>ACA	p.T314T	CPT1C_uc002ppl.3_Silent_p.T280T|CPT1C_uc002ppi.2_Silent_p.T231T|CPT1C_uc002ppk.2_Silent_p.T303T|CPT1C_uc010eng.2_Silent_p.T314T|CPT1C_uc010enh.2_Silent_p.T314T|CPT1C_uc010ybc.1_Silent_p.T185T|CPT1C_uc010eni.1_5'Flank	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2	314	Cytoplasmic (Potential).				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCAACACCACGCGGATTCCAG	0.443												
PNKP	11284	broad.mit.edu	37	19	50365310	50365310	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50365310G>A	uc002pqh.2	-	12	1231	c.1179C>T	c.(1177-1179)CAC>CAT	p.H393H	PNKP_uc002pqg.2_Silent_p.H174H|PNKP_uc002pqi.2_Silent_p.H354H|PNKP_uc002pqj.2_Silent_p.H393H|PNKP_uc010enm.2_Silent_p.H362H|PNKP_uc002pqk.2_Silent_p.H393H	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	393					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCCTGTTCACGTGGACATATC	0.582								Other_BER_factors				
KLK3	354	broad.mit.edu	37	19	51359531	51359531	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51359531G>T	uc002pts.1	+	2	123	c.82G>T	c.(82-84)GGC>TGC	p.G28C	KLK3_uc002ptp.1_Missense_Mutation_p.G28C|KLK3_uc010ycj.1_Missense_Mutation_p.G28C|KLK3_uc002ptr.1_Missense_Mutation_p.G28C|KLK3_uc010eof.1_RNA	NM_001030047	NP_001025218	P07288	KLK3_HUMAN	prostate specific antigen isoform 3	28	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GATTGTGGGAGGCTGGGAGTG	0.632												
KLK9	284366	broad.mit.edu	37	19	51512561	51512561	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51512561G>A	uc002pux.1	-	2	165	c.78C>T	c.(76-78)GCC>GCT	p.A26A	KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Intron	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9 precursor	26	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GACATTCCTCGGCCCCGATGG	0.662												
KLK12	43849	broad.mit.edu	37	19	51535220	51535220	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51535220G>A	uc002pvg.1	-	3	489	c.369C>T	c.(367-369)AGC>AGT	p.S123S	KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Silent_p.S123S|KLK12_uc002pvi.1_Silent_p.S123S|KLK12_uc002pvj.1_Intron	NM_145894	NP_665901	Q9UKR0	KLK12_HUMAN	kallikrein 12 isoform 2	123	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			ovary(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGGGTTGAACGCTGCTGGTTA	0.677												
CD33	945	broad.mit.edu	37	19	51729600	51729600	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:51729600G>A	uc002pwa.2	+	4	773	c.733G>A	c.(733-735)GGA>AGA	p.G245R	CD33_uc010eos.1_Missense_Mutation_p.G245R|CD33_uc010eot.1_Missense_Mutation_p.G118R|CD33_uc010eou.1_Intron	NM_001772	NP_001763	P20138	CD33_HUMAN	CD33 antigen isoform 1 precursor	245	Extracellular (Potential).				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding				0		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TATCTTTCCAGGAGATGGCTC	0.498												
SIGLEC6	946	broad.mit.edu	37	19	52033157	52033157	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:52033157C>A	uc002pwy.2	-	5	995	c.833G>T	c.(832-834)GGC>GTC	p.G278V	SIGLEC6_uc002pwz.2_Missense_Mutation_p.G262V|SIGLEC6_uc002pxa.2_Missense_Mutation_p.G278V|SIGLEC6_uc010ydb.1_Missense_Mutation_p.G215V|SIGLEC6_uc010ydc.1_Missense_Mutation_p.G278V|SIGLEC6_uc010eoz.1_Missense_Mutation_p.G256V|SIGLEC6_uc010epb.1_Missense_Mutation_p.G231V|SIGLEC6_uc010epa.1_Missense_Mutation_p.G267V	NM_001245	NP_001236	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6 isoform 1	278	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				ovary(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGGGGTTGCCGTCAGCATC	0.622												
SIGLEC5	8778	broad.mit.edu	37	19	52131128	52131128	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:52131128G>A	uc002pxe.2	-	5	1095	c.956C>T	c.(955-957)CCG>CTG	p.P319L		NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor	319	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			skin(2)|breast(1)|central_nervous_system(1)	4		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAAGCCCAGCGGGTGCTGAGC	0.562												
PPP2R1A	5518	broad.mit.edu	37	19	52723484	52723484	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:52723484G>A	uc002pyp.2	+	11	1504	c.1345G>A	c.(1345-1347)GCC>ACC	p.A449T	PPP2R1A_uc010ydk.1_Missense_Mutation_p.A394T|PPP2R1A_uc002pyq.2_Missense_Mutation_p.A270T	NM_014225	NP_055040	P30153	2AAA_HUMAN	alpha isoform of regulatory subunit A, protein	449	PP2A subunit C binding.|HEAT 12.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTTGTGCATGGCCTGGCTTGT	0.547			Mis		clear cell ovarian carcinoma							
ZNF677	342926	broad.mit.edu	37	19	53747065	53747065	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:53747065C>A	uc002qbf.1	-	4	286	c.101G>T	c.(100-102)AGG>ATG	p.R34M	ZNF677_uc002qbg.1_Missense_Mutation_p.R34M|ZNF677_uc002qbh.2_RNA	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	zinc finger protein 677	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00352)		CATCACGTCCCTGTACAAGGC	0.473												
LILRB3	11025	broad.mit.edu	37	19	54746593	54746593	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54746593G>A	uc010erh.1	-	1	132	c.8C>T	c.(7-9)CCC>CTC	p.P3L	LILRA6_uc002qew.1_Intron|LILRB3_uc002qeh.1_Missense_Mutation_p.P3L|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.P3L|LILRA6_uc002qek.1_Missense_Mutation_p.P3L|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.P3L|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.P3L|LILRB3_uc002qep.1_Missense_Mutation_p.P3L|LILRB3_uc002qeq.1_Missense_Mutation_p.P3L|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.P3L|LILRA6_uc010yep.1_Missense_Mutation_p.P3L|LILRA6_uc010yeq.1_Missense_Mutation_p.P3L|LILRA6_uc002qet.3_RNA|LILRA6_uc002qeu.1_Missense_Mutation_p.P3L|LILRA6_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor,	3					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			skin(2)|ovary(1)	3	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGAGGGCGGGCGTCATGGC	0.642												
LENG8	114823	broad.mit.edu	37	19	54967959	54967959	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54967959G>A	uc002qfv.1	+	10	1623	c.1479G>A	c.(1477-1479)GTG>GTA	p.V493V	LENG8_uc002qfw.2_Silent_p.V530V			Q96PV6	LENG8_HUMAN	RecName: Full=Leukocyte receptor cluster member 8;	493							protein binding			central_nervous_system(1)|pancreas(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCCCCTGGTGCTGCAGATGA	0.672												
RDH13	112724	broad.mit.edu	37	19	55568152	55568152	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:55568152C>T	uc002qio.3	-	3	394	c.209G>A	c.(208-210)CGA>CAA	p.R70Q	RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_RNA|RDH13_uc010esr.1_5'Flank	NM_001145971	NP_001139443	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 isoform 1	70							binding|oxidoreductase activity			large_intestine(1)|ovary(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CTCCATGTCTCGGCAGGCcag	0.328												
EPS8L1	54869	broad.mit.edu	37	19	55597479	55597479	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:55597479G>T	uc002qis.3	+	16	1673	c.1569G>T	c.(1567-1569)CAG>CAT	p.Q523H	EPS8L1_uc010ess.1_Missense_Mutation_p.Q537H|EPS8L1_uc010yfr.1_Missense_Mutation_p.Q459H|EPS8L1_uc002qiu.2_Missense_Mutation_p.Q396H|EPS8L1_uc002qiv.2_Missense_Mutation_p.Q201H|EPS8L1_uc002qiw.2_Missense_Mutation_p.Q302H	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	523	SH3.					cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCGGGGCAGGAGGGATATG	0.627												
U2AF2	11338	broad.mit.edu	37	19	56180456	56180456	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:56180456C>T	uc002qlu.2	+	10	2008	c.953C>T	c.(952-954)GCG>GTG	p.A318V	U2AF2_uc002qlt.2_Missense_Mutation_p.A318V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	318	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGGCCATTGCGGGGCTGAAC	0.667												
ZIM2	23619	broad.mit.edu	37	19	57286562	57286562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57286562G>A	uc002qnr.2	-	11	1460	c.1078C>T	c.(1078-1080)CAG>TAG	p.Q360*	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Nonsense_Mutation_p.Q156*|ZIM2_uc010ygr.1_Nonsense_Mutation_p.Q156*|ZIM2_uc002qnq.2_Nonsense_Mutation_p.Q360*|ZIM2_uc010etp.2_Nonsense_Mutation_p.Q360*|ZIM2_uc010ygs.1_Nonsense_Mutation_p.Q360*	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	360	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCAGCACACTGTTTACATTCA	0.453												
PEG3	5178	broad.mit.edu	37	19	57326969	57326969	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57326969A>G	uc002qnu.2	-	7	3192	c.2841T>C	c.(2839-2841)AAT>AAC	p.N947N	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.N918N|PEG3_uc002qnv.2_Silent_p.N947N|PEG3_uc002qnw.2_Silent_p.N823N|PEG3_uc002qnx.2_Silent_p.N821N|PEG3_uc010etr.2_Silent_p.N947N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	947					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGAGGTCTCATTGCTCCTAT	0.453												
ZNF543	125919	broad.mit.edu	37	19	57839442	57839442	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57839442C>T	uc002qoi.1	+	4	957	c.612C>T	c.(610-612)TGC>TGT	p.C204C		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	204	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAGGAATGCGGGAAAGTGT	0.413												
ZNF772	400720	broad.mit.edu	37	19	57985774	57985774	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:57985774A>G	uc002qot.2	-	5	599	c.338T>C	c.(337-339)ATG>ACG	p.M113T	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Missense_Mutation_p.M72T|ZNF772_uc010ygz.1_Missense_Mutation_p.M1T|ZNF772_uc010yha.1_Missense_Mutation_p.M59T|ZNF772_uc002qou.2_Missense_Mutation_p.M1T	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTCATCCTCCATTCCATGCCA	0.453												
ZIK1	284307	broad.mit.edu	37	19	58102493	58102493	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58102493C>T	uc002qpg.2	+	4	1411	c.1314C>T	c.(1312-1314)GGC>GGT	p.G438G	ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.G383G|ZIK1_uc002qpi.2_Silent_p.G425G|ZIK1_uc002qpj.2_Silent_p.G335G	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein	438	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATGAGTGTGGCCAGTGTGGAA	0.458												
ZSCAN1	284312	broad.mit.edu	37	19	58549499	58549499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58549499C>T	uc002qrc.1	+	3	542	c.295C>T	c.(295-297)CAG>TAG	p.Q99*	ZSCAN1_uc002qra.1_Nonsense_Mutation_p.Q99*|ZSCAN1_uc002qrb.1_Nonsense_Mutation_p.Q99*	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	99	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GACCTGGGTGCAGTCACAGGG	0.687												
ZSCAN18	65982	broad.mit.edu	37	19	58601411	58601411	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58601411C>T	uc002qri.2	-	2	533	c.224G>A	c.(223-225)CGC>CAC	p.R75H	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R75H|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R75H|ZSCAN18_uc010yht.1_Missense_Mutation_p.R131H|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R75H|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R75H	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGCCACTGGCGGCACAGCTC	0.662												
ZNF497	162968	broad.mit.edu	37	19	58868090	58868090	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58868090G>A	uc002qsh.1	-	3	1101	c.912C>T	c.(910-912)TGC>TGT	p.C304C	A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Silent_p.C304C|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	304	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGCACTCGGCGCAGGGGAAGG	0.716												
TMEM18	129787	broad.mit.edu	37	2	677290	677290	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:677290G>A	uc002qwl.2	-	1	150	c.56C>T	c.(55-57)ACG>ATG	p.T19M	TMEM18_uc002qwk.2_5'Flank|uc002qwm.1_RNA	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	19					cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GCGAGTTACCGTGAGCACGGC	0.682												
TPO	7173	broad.mit.edu	37	2	1491596	1491596	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:1491596G>A	uc002qww.2	+	10	1692	c.1601G>A	c.(1600-1602)GGT>GAT	p.G534D	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Missense_Mutation_p.G534D|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Missense_Mutation_p.G361D|TPO_uc010yip.1_Missense_Mutation_p.G534D|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	534	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTTCCAGGTGGTTTGGACCCA	0.423												
PXDN	7837	broad.mit.edu	37	2	1670073	1670073	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:1670073C>T	uc002qxa.2	-	10	1268	c.1204G>A	c.(1204-1206)GTC>ATC	p.V402I	PXDN_uc002qxb.1_Missense_Mutation_p.V402I|PXDN_uc002qxc.1_Missense_Mutation_p.V219I	NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	402	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCTGTACGACGTTCTGTATG	0.607												
ROCK2	9475	broad.mit.edu	37	2	11351916	11351916	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:11351916C>T	uc002rbd.1	-	18	2543	c.2094G>A	c.(2092-2094)CAG>CAA	p.Q698Q		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein	698	Potential.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			stomach(2)|skin(2)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CTAGGCTCTGCTGTATAACTT	0.353												
MYCN	4613	broad.mit.edu	37	2	16082453	16082453	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:16082453C>A	uc002rci.2	+	2	567	c.267C>A	c.(265-267)GGC>GGA	p.G89G	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_Silent_p.G81G	NM_005378	NP_005369	P04198	MYCN_HUMAN	v-myc myelocytomatosis viral related oncogene,	89					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGCTGTGGGGCAGCCCGGCCG	0.716			A		neuroblastoma							
HS1BP3	64342	broad.mit.edu	37	2	20823667	20823667	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:20823667C>A	uc002rdw.1	-	6	950	c.909G>T	c.(907-909)AAG>AAT	p.K303N		NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	303					cell communication		phosphatidylinositol binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACAGTTCCTTGGAGGCGT	0.672												
MFSD2B	388931	broad.mit.edu	37	2	24244545	24244545	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:24244545G>A	uc002reo.1	+	7	723	c.709G>A	c.(709-711)GTG>ATG	p.V237M		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing	237	Helical; (Potential).				transport	integral to membrane				ovary(2)	2						TGCGGCTGCCGTGGTTGTAGT	0.607												
NCOA1	8648	broad.mit.edu	37	2	24881612	24881612	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:24881612G>A	uc002rfk.2	+	3	324	c.66G>A	c.(64-66)TCG>TCA	p.S22S	NCOA1_uc010eye.2_Silent_p.S22S|NCOA1_uc002rfi.2_5'UTR|NCOA1_uc002rfj.2_Silent_p.S22S|NCOA1_uc002rfl.2_Silent_p.S22S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	22	Helix-loop-helix motif.								PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAGGATCGCCATGTGACA	0.408			T	PAX3	alveolar rhadomyosarcoma							
KCNK3	3777	broad.mit.edu	37	2	26950641	26950641	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:26950641G>A	uc002rhn.2	+	2	553	c.390G>A	c.(388-390)GAG>GAA	p.E130E		NM_002246	NP_002237	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	130	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGGCGAGCGCATCAACA	0.657												
SLC5A6	8884	broad.mit.edu	37	2	27430161	27430161	+	Missense_Mutation	SNP	C	C	T	rs150524685	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27430161C>T	uc002rjd.2	-	3	749	c.358G>A	c.(358-360)GTT>ATT	p.V120I	SLC5A6_uc010eyv.1_Missense_Mutation_p.V120I|SLC5A6_uc002rje.1_Missense_Mutation_p.V120I	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	120	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CGGTAGAAAACGGGGATGAAG	0.577												
C2orf28	51374	broad.mit.edu	37	2	27439715	27439715	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27439715T>C	uc002rjf.2	+	7	927	c.754T>C	c.(754-756)TCG>CCG	p.S252P	C2orf28_uc002rjg.2_Missense_Mutation_p.S139P|C2orf28_uc002rjh.2_RNA|CAD_uc002rji.2_5'Flank|CAD_uc010eyw.2_5'Flank	NM_080592	NP_542159	Q6UW56	APR3_HUMAN	apoptosis related protein 3 isoform b	197	Extracellular (Potential).					integral to membrane|plasma membrane				skin(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACAGGGCTCGTTCTCACT	0.493												
CAD	790	broad.mit.edu	37	2	27447223	27447223	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27447223G>A	uc002rji.2	+	9	1281	c.1119G>A	c.(1117-1119)CGG>CGA	p.R373R	CAD_uc010eyw.2_Silent_p.R373R	NM_004341	NP_004332	P27708	PYR1_HUMAN	carbamoylphosphate synthetase 2/aspartate	373	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TTAGAGAGCGGCTGACTGAGC	0.408												
ZNF513	130557	broad.mit.edu	37	2	27600873	27600873	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27600873G>A	uc002rkk.2	-	4	1365	c.1165C>T	c.(1165-1167)CGC>TGC	p.R389C	ZNF513_uc002rkj.2_Missense_Mutation_p.R327C	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	389	C2H2-type 5.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGCGCAGCGGAAGGGCTTC	0.592												
SPDYA	245711	broad.mit.edu	37	2	29041919	29041919	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:29041919G>A	uc002rmj.2	+	4	447	c.241G>A	c.(241-243)GAT>AAT	p.D81N	SPDYA_uc002rmi.2_Missense_Mutation_p.D81N|SPDYA_uc002rmk.2_Missense_Mutation_p.D81N|SPDYA_uc002rml.2_Missense_Mutation_p.D81N	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	speedy homolog A isoform 1	81	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			upper_aerodigestive_tract(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					TGTAGATGACGATTTAATTCA	0.299												
CLIP4	79745	broad.mit.edu	37	2	29404681	29404681	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:29404681C>T	uc002rmv.2	+	16	2279	c.2040C>T	c.(2038-2040)AAC>AAT	p.N680N	CLIP4_uc002rmw.2_RNA	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family,	680	CAP-Gly 3.									ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTAAGCCGAACCATGGAGTCT	0.448												
LCLAT1	253558	broad.mit.edu	37	2	30863019	30863019	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:30863019C>T	uc002rnj.2	+	7	988	c.779C>T	c.(778-780)GCG>GTG	p.A260V	LCLAT1_uc010ymp.1_Missense_Mutation_p.A98V|LCLAT1_uc002rnl.2_Missense_Mutation_p.A222V|LCLAT1_uc010ymq.1_Missense_Mutation_p.A222V	NM_182551	NP_872357	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1 isoform 1	260					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			ovary(2)	2						ATCACTGTGGCGTATCCTCAC	0.453												
QPCT	25797	broad.mit.edu	37	2	37599550	37599550	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:37599550G>A	uc002rqg.2	+	6	997	c.875G>A	c.(874-876)CGG>CAG	p.R292Q	QPCT_uc002rqh.2_Missense_Mutation_p.R243Q	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	292					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTGGAGGGGCGGTATTTCCAG	0.299												
SOS1	6654	broad.mit.edu	37	2	39249715	39249715	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:39249715G>A	uc002rrk.3	-	10	1895	c.1854C>T	c.(1852-1854)TAC>TAT	p.Y618Y	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Silent_p.Y232Y|SOS1_uc002rrl.2_Silent_p.Y350Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	618	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				TCTTACCTGCGTACATATGGT	0.363									Noonan_syndrome			
ABCG8	64241	broad.mit.edu	37	2	44078854	44078854	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:44078854C>T	uc002rtq.2	+	4	544	c.454C>T	c.(454-456)CGC>TGC	p.R152C	ABCG8_uc010yoa.1_Missense_Mutation_p.R152C	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	152	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGCCCACGTGCGCCAGCACAA	0.627												
KLRAQ1	129285	broad.mit.edu	37	2	48687004	48687004	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:48687004C>T	uc002rwm.2	+	5	672	c.487C>T	c.(487-489)CGG>TGG	p.R163W	KLRAQ1_uc002rwi.1_Missense_Mutation_p.R163W|KLRAQ1_uc002rwj.2_Missense_Mutation_p.R163W|KLRAQ1_uc002rwl.2_Missense_Mutation_p.R117W|KLRAQ1_uc002rwk.2_Missense_Mutation_p.R163W|KLRAQ1_uc010yok.1_Missense_Mutation_p.R163W	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	163	Potential.									ovary(1)	1						CGGTCTCACCCGGAAGTACAT	0.498												
SPTBN1	6711	broad.mit.edu	37	2	54855380	54855380	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:54855380C>T	uc002rxu.2	+	13	2040	c.1791C>T	c.(1789-1791)GAC>GAT	p.D597D	SPTBN1_uc002rxv.1_Silent_p.D597D|SPTBN1_uc002rxx.2_Silent_p.D584D	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	597	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			TCGCAACAGACGGGGAAGGTA	0.512												
SPTBN1	6711	broad.mit.edu	37	2	54895523	54895523	+	Silent	SNP	C	C	T	rs147084588		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:54895523C>T	uc002rxu.2	+	36	7161	c.6912C>T	c.(6910-6912)TCC>TCT	p.S2304S	SPTBN1_uc010you.1_Silent_p.S294S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	2304	PH.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			CTATCTCTTCCGCCATCTCCT	0.577												
BCL11A	53335	broad.mit.edu	37	2	60773219	60773219	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:60773219T>C	uc002sae.1	-	2	500	c.272A>G	c.(271-273)GAG>GGG	p.E91G	BCL11A_uc002sab.2_Missense_Mutation_p.E91G|BCL11A_uc002sac.2_Missense_Mutation_p.E91G|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Missense_Mutation_p.E91G|BCL11A_uc002saf.1_Missense_Mutation_p.E91G|BCL11A_uc010fcg.2_Missense_Mutation_p.E91G	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	91	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTTTTTCATCTCGATTGGTGA	0.468			T	IGH@	B-CLL							
PROKR1	10887	broad.mit.edu	37	2	68873256	68873256	+	Silent	SNP	C	C	T	rs144978946		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:68873256C>T	uc010yqj.1	+	1	303	c.303C>T	c.(301-303)ATC>ATT	p.I101I	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	101	Helical; Name=2; (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						ACCTGCTCATCGCCAACCTGG	0.582												
TIA1	7072	broad.mit.edu	37	2	70441502	70441502	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:70441502G>A	uc002sgj.3	-	12	1230	c.1013C>T	c.(1012-1014)GCA>GTA	p.A338V	TIA1_uc002sgk.3_Missense_Mutation_p.A327V|TIA1_uc002sgl.3_RNA	NM_022173	NP_071505	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding	338					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding				0						CTGGTTCCATGCCTGGCCATA	0.388												
ANKRD53	79998	broad.mit.edu	37	2	71209747	71209747	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:71209747T>G	uc002shl.3	+	5	1024	c.823T>G	c.(823-825)TTT>GTT	p.F275V	ANKRD53_uc002shk.3_Missense_Mutation_p.F275V|ANKRD53_uc002shm.3_Missense_Mutation_p.F186V	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53 isoform a	275											0						CAAGAAGGACTTTGCCCGTGA	0.537												
DYSF	8291	broad.mit.edu	37	2	71839776	71839776	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:71839776G>A	uc002sie.2	+	39	4549	c.4173G>A	c.(4171-4173)CTG>CTA	p.L1391L	DYSF_uc010feg.2_Silent_p.L1422L|DYSF_uc010feh.2_Silent_p.L1377L|DYSF_uc002sig.3_Silent_p.L1377L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.L1391L|DYSF_uc010fef.2_Silent_p.L1408L|DYSF_uc010fei.2_Silent_p.L1408L|DYSF_uc010fek.2_Silent_p.L1409L|DYSF_uc010fej.2_Silent_p.L1378L|DYSF_uc010fel.2_Silent_p.L1378L|DYSF_uc010feo.2_Silent_p.L1423L|DYSF_uc010fem.2_Silent_p.L1392L|DYSF_uc010fen.2_Silent_p.L1409L|DYSF_uc002sif.2_Silent_p.L1392L|DYSF_uc010yqy.1_Silent_p.L272L|DYSF_uc010yqz.1_Silent_p.L131L	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	1391	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7						CCCAGATGCTGCCCAGGGAGG	0.597												
EMX1	2016	broad.mit.edu	37	2	73145444	73145444	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73145444C>A	uc002sin.1	+	1	841	c.463C>A	c.(463-465)CCT>ACT	p.P155T	EMX1_uc002sim.1_Intron	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	122						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GCACCGGGACCCTCTCCATTT	0.607												
EMX1	2016	broad.mit.edu	37	2	73151504	73151504	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73151504G>A	uc002sin.1	+	2	965	c.587G>A	c.(586-588)CGC>CAC	p.R196H	EMX1_uc002sim.1_Silent_p.P148P	NM_004097	NP_004088	Q04741	EMX1_HUMAN	empty spiracles homolog 1	163	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AAGCGGATCCGCACGGCCTTC	0.721												
ALMS1	7840	broad.mit.edu	37	2	73761965	73761965	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73761965T>A	uc002sje.1	+	14	9910	c.9799T>A	c.(9799-9801)TTG>ATG	p.L3267M	ALMS1_uc002sjf.1_Missense_Mutation_p.L3223M|ALMS1_uc002sjg.2_Missense_Mutation_p.L2653M|ALMS1_uc002sjh.1_Missense_Mutation_p.L2653M|ALMS1_uc010fev.1_Missense_Mutation_p.L82M	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3265					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GCCTTTATTATTGCCATATAA	0.284												
TPRKB	51002	broad.mit.edu	37	2	73957865	73957865	+	Splice_Site	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:73957865T>A	uc002sjn.2	-	4	376	c.265_splice	c.e4-1	p.I89_splice	TPRKB_uc002sjm.2_Splice_Site_p.I128_splice|TPRKB_uc002sjl.2_Splice_Site_p.I56_splice|TPRKB_uc002sjo.2_Splice_Site_p.I89_splice|TPRKB_uc010yrm.1_Intron	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein						protein catabolic process	cytosol|nucleus	protein kinase binding			ovary(1)|skin(1)	2						CTCTGAAATCTAAGAGAAAAA	0.318												
RETSAT	54884	broad.mit.edu	37	2	85578126	85578126	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:85578126C>T	uc002spd.2	-	3	565	c.374G>A	c.(373-375)CGT>CAT	p.R125H	RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.R64H|RETSAT_uc010fgf.2_Intron	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	all-trans-13,14-dihydroretinol saturase	125					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			ovary(2)	2					Vitamin A(DB00162)	CTCTTCCATACGCCCAATGTA	0.512												
C2orf68	388969	broad.mit.edu	37	2	85836155	85836155	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:85836155C>T	uc002sqc.2	-	4	486	c.414G>A	c.(412-414)TCG>TCA	p.S138S	USP39_uc002sqb.2_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	hypothetical protein LOC388969	138										central_nervous_system(1)	1						GCGTGTGTGCCGACACCTTCT	0.577												
FAHD2A	51011	broad.mit.edu	37	2	96071494	96071494	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:96071494C>T	uc002sur.2	+	2	367	c.188C>T	c.(187-189)CCG>CTG	p.P63L	FAHD2A_uc002sus.2_Missense_Mutation_p.P63L	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	63							hydrolase activity|metal ion binding			ovary(1)	1						CCCACACTCCCGAAGACGATG	0.607												
CNNM4	26504	broad.mit.edu	37	2	97462748	97462748	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97462748G>T	uc002swx.2	+	2	1501	c.1403_splice	c.e2-1	p.G468_splice	CNNM4_uc010yuy.1_Splice_Site|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4						biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						TTGTCCCACAGGGAAGTCCCA	0.557												
CNNM4	26504	broad.mit.edu	37	2	97462840	97462840	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97462840C>T	uc002swx.2	+	2	1592	c.1494C>T	c.(1492-1494)GAC>GAT	p.D498D	CNNM4_uc010yuy.1_Translation_Start_Site|hsa-mir-3127|MI0014144_5'Flank	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	cyclin M4	498	CBS 2.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|ovary(1)	3						CCCTGGAGGACGTGATCGAGG	0.597												
FAHD2B	151313	broad.mit.edu	37	2	97751578	97751578	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97751578G>A	uc002sxm.2	-	5	694	c.543C>T	c.(541-543)CAC>CAT	p.H181H		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing	181							hydrolase activity|metal ion binding				0						AGCCGGCCACGTGGGCCATGG	0.562												
EIF5B	9669	broad.mit.edu	37	2	99953983	99953983	+	Translation_Start_Site	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:99953983A>G	uc002tab.2	+	1	150	c.-34A>G	c.(-36--32)ATAGA>ATGGA		TXNDC9_uc010yvp.1_Intron|TXNDC9_uc002szz.2_5'Flank|TXNDC9_uc002taa.1_5'Flank	NM_015904	NP_056988	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			ovary(2)|pancreas(1)	3						GAGACCGAATAGAGGGGCTGG	0.607												
NPAS2	4862	broad.mit.edu	37	2	101587503	101587503	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:101587503G>A	uc002tap.1	+	12	1393	c.1107G>A	c.(1105-1107)CCG>CCA	p.P369P	NPAS2_uc010yvt.1_Silent_p.P434P	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	369					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(3)|upper_aerodigestive_tract(1)	4						TGGAAGACCCGCCATCCGAGG	0.557												
MAP4K4	9448	broad.mit.edu	37	2	102486181	102486181	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:102486181C>T	uc002tbg.2	+	20	2373	c.2318C>T	c.(2317-2319)ACG>ATG	p.T773M	MAP4K4_uc002tbc.2_Missense_Mutation_p.T854M|MAP4K4_uc002tbd.2_Missense_Mutation_p.T746M|MAP4K4_uc002tbe.2_Missense_Mutation_p.T692M|MAP4K4_uc002tbf.2_Missense_Mutation_p.T743M|MAP4K4_uc010yvy.1_Missense_Mutation_p.T769M|MAP4K4_uc002tbh.2_Missense_Mutation_p.T691M|MAP4K4_uc002tbi.2_Missense_Mutation_p.T576M|MAP4K4_uc010yvz.1_Missense_Mutation_p.T749M|MAP4K4_uc002tbk.2_Missense_Mutation_p.T228M|MAP4K4_uc002tbl.2_Translation_Start_Site	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	773					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GAGTCGGGGACGACGGATGAG	0.582												
IL18R1	8809	broad.mit.edu	37	2	103013313	103013313	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103013313A>G	uc002tbw.3	+	11	1743	c.1593A>G	c.(1591-1593)GAA>GAG	p.E531E	IL18R1_uc010ywc.1_Silent_p.E530E|IL18R1_uc010ywd.1_Silent_p.E375E|IL18R1_uc010fiy.2_Silent_p.E531E	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	531	Cytoplasmic (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3						GTAGAGACGAACCGGAAGTCT	0.423												
SLC9A2	6549	broad.mit.edu	37	2	103274237	103274237	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103274237G>A	uc002tca.2	+	2	646	c.504G>A	c.(502-504)ACG>ACA	p.T168T		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	168	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						ACATTGGCACGATTTTCTGGT	0.488												
SLC9A2	6549	broad.mit.edu	37	2	103299895	103299895	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103299895G>A	uc002tca.2	+	4	1322	c.1180G>A	c.(1180-1182)GTC>ATC	p.V394I		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	394	Helical; Name=K/M9; (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						CTGGGCCTTCGTCTGCTTCAC	0.507												
SLC9A2	6549	broad.mit.edu	37	2	103324830	103324830	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:103324830G>A	uc002tca.2	+	12	2463	c.2321G>A	c.(2320-2322)GGC>GAC	p.G774D		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	774	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8						GACCAGTCTGGCTCAGAGAGG	0.597												
SEPT10	151011	broad.mit.edu	37	2	110323432	110323432	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:110323432T>G	uc002tew.2	-	7	1146	c.767A>C	c.(766-768)CAG>CCG	p.Q256P	SEPT10_uc010ywu.1_Missense_Mutation_p.Q89P|SEPT10_uc002tex.2_Missense_Mutation_p.Q233P|SEPT10_uc002tey.2_Missense_Mutation_p.Q256P|SEPT10_uc010ywv.1_Missense_Mutation_p.Q122P|SEPT10_uc002tev.1_Missense_Mutation_p.Q63P|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Missense_Mutation_p.Q31P	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	septin 10 isoform 1	256					cell cycle|cell division	septin complex	GTP binding				0						AAACGGCAACTGTCCCTGAAA	0.388												
STEAP3	55240	broad.mit.edu	37	2	120003324	120003324	+	Silent	SNP	G	G	A	rs144377604	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:120003324G>A	uc002tlp.2	+	3	409	c.252G>A	c.(250-252)CCG>CCA	p.P84P	STEAP3_uc002tlq.2_Silent_p.P94P|STEAP3_uc002tlr.2_Silent_p.P84P|STEAP3_uc010fle.2_Silent_p.P84P	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	84	Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						TGAGCTCCCCGGAGGTCATCT	0.592												
STEAP3	55240	broad.mit.edu	37	2	120005744	120005744	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:120005744G>A	uc002tlp.2	+	4	1139	c.982G>A	c.(982-984)GCC>ACC	p.A328T	STEAP3_uc002tlq.2_Missense_Mutation_p.A338T|STEAP3_uc002tlr.2_Missense_Mutation_p.A328T|STEAP3_uc010fle.2_Missense_Mutation_p.A328T	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	328	Ferric oxidoreductase.|Vesicular (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						GCTGCGCCGCGCCCACCGCTA	0.652												
C2orf76	130355	broad.mit.edu	37	2	120069198	120069198	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:120069198C>T	uc002tls.2	-	6	845	c.304G>A	c.(304-306)GCC>ACC	p.A102T	C2orf76_uc010flf.1_Missense_Mutation_p.A102T|C2orf76_uc010yyg.1_RNA|C2orf76_uc002tlt.2_Missense_Mutation_p.A102T|C2orf76_uc002tlu.2_Missense_Mutation_p.A102T	NM_001017927	NP_001017927	Q3KRA6	CB076_HUMAN	hypothetical protein LOC130355	102											0						CCTTCCTCACCGATTCCAGCT	0.468												
GYPC	2995	broad.mit.edu	37	2	127453674	127453674	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:127453674C>A	uc002tnq.2	+	4	499	c.343C>A	c.(343-345)CTC>ATC	p.L115I	GYPC_uc002tnr.2_Missense_Mutation_p.L96I|GYPC_uc010flv.2_RNA	NM_002101	NP_002092	P04921	GLPC_HUMAN	glycophorin C isoform 1	115	Cytoplasmic.					cortical cytoskeleton|integral to plasma membrane	protein binding			central_nervous_system(1)	1	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGACCCTGCCCTCCAAGATGC	0.542												
ERCC3	2071	broad.mit.edu	37	2	128028923	128028923	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128028923C>T	uc002toh.1	-	12	2029	c.1934G>A	c.(1933-1935)CGA>CAA	p.R645Q	ERCC3_uc002toe.1_Missense_Mutation_p.R400Q|ERCC3_uc002tof.1_Missense_Mutation_p.R581Q|ERCC3_uc002tog.1_Missense_Mutation_p.R581Q	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	645	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTTTTTAGCTCGAAGCACCCG	0.507			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
ERCC3	2071	broad.mit.edu	37	2	128030525	128030525	+	Silent	SNP	G	G	A	rs147061557		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128030525G>A	uc002toh.1	-	11	1838	c.1743C>T	c.(1741-1743)TAC>TAT	p.Y581Y	ERCC3_uc002toe.1_Silent_p.Y336Y|ERCC3_uc002tof.1_Silent_p.Y517Y|ERCC3_uc002tog.1_Silent_p.Y517Y	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	581	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACGTAGGTCCGTAGATATAGG	0.428			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
ERCC3	2071	broad.mit.edu	37	2	128038146	128038146	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128038146C>T	uc002toh.1	-	9	1499	c.1404G>A	c.(1402-1404)GCG>GCA	p.A468A	ERCC3_uc002toe.1_Silent_p.A223A|ERCC3_uc002tof.1_Silent_p.A404A|ERCC3_uc002tog.1_Silent_p.A404A	NM_000122	NP_000113	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent	468	Helicase ATP-binding.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			ovary(2)|lung(2)|breast(2)|kidney(1)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGACGAGGGTCGCAGTCAAAC	0.488			Mis|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
WDR33	55339	broad.mit.edu	37	2	128466263	128466263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128466263G>A	uc002tpg.1	-	21	3952	c.3769C>T	c.(3769-3771)CGA>TGA	p.R1257*		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1257					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTGCCTCCTCGGTCTTCAGAA	0.612												
AMMECR1L	83607	broad.mit.edu	37	2	128628889	128628889	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:128628889C>T	uc002tpl.2	-	4	703	c.452G>A	c.(451-453)CGT>CAT	p.R151H	AMMECR1L_uc002tpm.2_Missense_Mutation_p.R151H	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	151	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		AATGCAGCCACGAAGCCGCTT	0.443												
HS6ST1	9394	broad.mit.edu	37	2	129026328	129026328	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:129026328G>A	uc002tpt.3	-	2	678	c.644C>T	c.(643-645)ACG>ATG	p.T215M		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	215	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		AGGCGTGGGCGTGCGCCCATC	0.647												
RAB6C	84084	broad.mit.edu	37	2	130738414	130738414	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:130738414G>A	uc002tpx.1	+	1	1180	c.726G>A	c.(724-726)ACG>ACA	p.T242T	uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	242					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1	Colorectal(110;0.1)					CATTAATAACGTTTTGCAATT	0.393												
SMPD4	55627	broad.mit.edu	37	2	130939110	130939110	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:130939110A>G	uc002tqq.1	-	1	585	c.65T>C	c.(64-66)ATC>ACC	p.I22T	FAM128B_uc002tqu.2_5'Flank|uc010zae.1_5'Flank|SMPD4_uc010yzy.1_Missense_Mutation_p.I22T|SMPD4_uc010yzz.1_5'UTR|SMPD4_uc002tqr.1_Missense_Mutation_p.I22T|SMPD4_uc002tqs.1_5'UTR|SMPD4_uc002tqt.1_5'UTR|SMPD4_uc010zaa.1_5'UTR|SMPD4_uc010zab.1_Missense_Mutation_p.I22T|SMPD4_uc010zac.1_5'UTR|SMPD4_uc010zad.1_5'UTR	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4 isoform 2	Error:Variant_position_missing_in_Q9NXE4_after_alignment					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity				0	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CACCTGTGGGATCCATAGCGT	0.726												
GPR39	2863	broad.mit.edu	37	2	133174993	133174993	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:133174993G>A	uc002ttl.2	+	1	847	c.378G>A	c.(376-378)GTG>GTA	p.V126V		NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	126	Helical; Name=3; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0						TGCTGCACGTGCTGACACTCA	0.577												
NCKAP5	344148	broad.mit.edu	37	2	133636480	133636480	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:133636480A>G	uc002ttp.2	-	9	963	c.589T>C	c.(589-591)TCA>CCA	p.S197P	NCKAP5_uc002ttq.2_Missense_Mutation_p.S197P	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	197	Potential.						protein binding				0						GCCAACGCTGAATTCTCTGCC	0.388												
LRP1B	53353	broad.mit.edu	37	2	141143493	141143493	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:141143493G>A	uc002tvj.1	-	67	11472	c.10500C>T	c.(10498-10500)GAC>GAT	p.D3500D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3500	Extracellular (Potential).|LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCACTGCAGTCATTTTGGC	0.373										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141643823	141643823	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:141643823A>T	uc002tvj.1	-	24	4820	c.3848T>A	c.(3847-3849)CTT>CAT	p.L1283H	LRP1B_uc010fnl.1_Missense_Mutation_p.L465H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1283	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCAGGAACAAGTAGACTATA	0.328										TSP Lung(27;0.18)		
ZEB2	9839	broad.mit.edu	37	2	145157105	145157105	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:145157105T>C	uc002tvu.2	-	8	2129	c.1649A>G	c.(1648-1650)CAG>CGG	p.Q550R	ZEB2_uc002tvv.2_Missense_Mutation_p.Q544R|ZEB2_uc010zbm.1_Missense_Mutation_p.Q521R|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.Q579R	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	550						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)		ATTACTGATCTGTCTCCTTGA	0.373												
NEB	4703	broad.mit.edu	37	2	152468749	152468749	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:152468749T>C	uc010fnx.2	-	74	11218	c.11027A>G	c.(11026-11028)GAC>GGC	p.D3676G		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3676	Nebulin 101.				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)		TTCCGGAGTGTCGGTAATGCA	0.478												
NR4A2	4929	broad.mit.edu	37	2	157185981	157185981	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:157185981C>T	uc002tyz.3	-	3	1140	c.718G>A	c.(718-720)GCG>ACG	p.A240T	NR4A2_uc002tyx.3_Missense_Mutation_p.A177T|NR4A2_uc010zcf.1_Missense_Mutation_p.A240T|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	240					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(3)	3						AGCTGAGACGCGTGGCCGATC	0.716												
ACVR1C	130399	broad.mit.edu	37	2	158399322	158399322	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:158399322T>C	uc002tzk.3	-	6	1239	c.996A>G	c.(994-996)AAA>AAG	p.K332K	ACVR1C_uc002tzl.3_Silent_p.K252K|ACVR1C_uc010fof.2_Silent_p.K175K|ACVR1C_uc010foe.2_Silent_p.K282K	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	332	Protein kinase.|Cytoplasmic (Potential).				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						TTTCACACTTTTTCACTAAGA	0.383												
PKP4	8502	broad.mit.edu	37	2	159488414	159488414	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:159488414C>T	uc002tzv.2	+	8	1563	c.1303C>T	c.(1303-1305)CTC>TTC	p.L435F	PKP4_uc002tzt.1_Missense_Mutation_p.L287F|PKP4_uc002tzu.2_Missense_Mutation_p.L435F|PKP4_uc002tzw.2_Missense_Mutation_p.L435F|PKP4_uc002tzx.2_Missense_Mutation_p.L93F|PKP4_uc002tzy.1_Missense_Mutation_p.L93F|PKP4_uc002tzz.1_Missense_Mutation_p.L433F|PKP4_uc002uaa.2_Missense_Mutation_p.L287F	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	435	ARM 1.				cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7						AACTGTGGAGCTCCAAGGATC	0.512										HNSCC(62;0.18)		
GORASP2	26003	broad.mit.edu	37	2	171822461	171822461	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:171822461C>T	uc002ugk.2	+	10	1320	c.1180C>T	c.(1180-1182)CCC>TCC	p.P394S	GORASP2_uc002ugj.2_Missense_Mutation_p.P326S|GORASP2_uc010zdl.1_Missense_Mutation_p.P406S|GORASP2_uc010zdm.1_Missense_Mutation_p.P350S|GORASP2_uc002ugl.2_Missense_Mutation_p.P326S|GORASP2_uc002ugm.2_Missense_Mutation_p.P176S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2	394						Golgi membrane				breast(1)|central_nervous_system(1)	2						CAGCAACGCACCCTCCGACCC	0.627												
CYBRD1	79901	broad.mit.edu	37	2	172379245	172379245	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:172379245A>G	uc002ugy.3	+	1	380	c.190A>G	c.(190-192)ATC>GTC	p.I64V	CYBRD1_uc002ugz.3_Missense_Mutation_p.I64V	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1 isoform 1	64	Cytochrome b561.|Helical; Name=2; (Potential).				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding				0						CATCCAGGGCATCGGTACTGG	0.647												
HOXD10	3236	broad.mit.edu	37	2	176982041	176982041	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:176982041C>T	uc002ukj.2	+	1	550	c.480C>T	c.(478-480)ACC>ACT	p.T160T		NM_002148	NP_002139	P28358	HXD10_HUMAN	homeobox D10	160						nucleus	sequence-specific DNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTACGCCACCGGGAAAACCC	0.592												
TTN	7273	broad.mit.edu	37	2	179417885	179417885	+	Silent	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179417885T>G	uc010zfg.1	-	284	82262	c.82038A>C	c.(82036-82038)ATA>ATC	p.I27346I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I21041I|TTN_uc010zfi.1_Silent_p.I20974I|TTN_uc010zfj.1_Silent_p.I20849I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28273							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCATTTTCTATTGTGAGAA	0.408												
TTN	7273	broad.mit.edu	37	2	179438692	179438692	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179438692C>T	uc010zfg.1	-	275	64687	c.64463G>A	c.(64462-64464)CGC>CAC	p.R21488H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15183H|TTN_uc010zfi.1_Missense_Mutation_p.R15116H|TTN_uc010zfj.1_Missense_Mutation_p.R14991H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22415							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGGTGGGCGGCCTGAAAC	0.408												
TTN	7273	broad.mit.edu	37	2	179452670	179452670	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179452670C>T	uc010zfg.1	-	254	55984	c.55760G>A	c.(55759-55761)CGC>CAC	p.R18587H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R12282H|TTN_uc010zfi.1_Missense_Mutation_p.R12215H|TTN_uc010zfj.1_Missense_Mutation_p.R12090H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19514							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTGCAGGGCGCCCAATACC	0.438												
TTN	7273	broad.mit.edu	37	2	179474028	179474028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179474028G>A	uc010zfg.1	-	222	44529	c.44305C>T	c.(44305-44307)CGA>TGA	p.R14769*	uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R8464*|TTN_uc010zfi.1_Nonsense_Mutation_p.R8397*|TTN_uc010zfj.1_Nonsense_Mutation_p.R8272*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15696							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATCTCGGACGCGTAGC	0.453												
TTN	7273	broad.mit.edu	37	2	179483201	179483201	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179483201G>A	uc010zfg.1	-	201	39504	c.39280C>T	c.(39280-39282)CGT>TGT	p.R13094C	TTN_uc010zfh.1_Missense_Mutation_p.R6789C|TTN_uc010zfi.1_Missense_Mutation_p.R6722C|TTN_uc010zfj.1_Missense_Mutation_p.R6597C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14021							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAAGTTACGTACTGGCCCA	0.393												
TTN	7273	broad.mit.edu	37	2	179583532	179583532	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179583532A>G	uc010zfg.1	-	81	20887	c.20663T>C	c.(20662-20664)GTC>GCC	p.V6888A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V3549A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7815							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTCTGTGACAAAATCTTC	0.483												
TTN	7273	broad.mit.edu	37	2	179591896	179591896	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179591896A>G	uc010zfg.1	-	66	16688	c.16464T>C	c.(16462-16464)ACT>ACC	p.T5488T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T2149T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6415							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTCCTCAGTACTGAGAT	0.438												
TTN	7273	broad.mit.edu	37	2	179645895	179645895	+	Missense_Mutation	SNP	C	C	T	rs149883066		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:179645895C>T	uc010zfg.1	-	21	3700	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H	TTN_uc010zfh.1_Missense_Mutation_p.R1113H|TTN_uc010zfi.1_Missense_Mutation_p.R1113H|TTN_uc010zfj.1_Missense_Mutation_p.R1113H|TTN_uc002unb.2_Missense_Mutation_p.R1159H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1159							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGCTTATTGCGAACAACAAT	0.388												
SSFA2	6744	broad.mit.edu	37	2	182766502	182766502	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:182766502G>A	uc002uoi.2	+	8	1044	c.722G>A	c.(721-723)CGT>CAT	p.R241H	SSFA2_uc002uoh.2_Missense_Mutation_p.R241H|SSFA2_uc002uoj.2_Missense_Mutation_p.R241H|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R88H|SSFA2_uc002uol.2_Missense_Mutation_p.R88H	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	sperm specific antigen 2 isoform 1	241						cytoplasm|plasma membrane	actin binding			breast(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGCCGTTTTCGTCAAATTGAA	0.303												
PDE1A	5136	broad.mit.edu	37	2	183095828	183095828	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:183095828C>A	uc002uos.2	-	6	580	c.496G>T	c.(496-498)GCC>TCC	p.A166S	PDE1A_uc010zfp.1_Missense_Mutation_p.A62S|PDE1A_uc002uoq.1_Missense_Mutation_p.A166S|PDE1A_uc010zfq.1_Missense_Mutation_p.A166S|PDE1A_uc002uor.2_Missense_Mutation_p.A150S|PDE1A_uc002uou.2_Missense_Mutation_p.A132S	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	166					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCATTTAGGGCAAATACATCG	0.328												
MSTN	2660	broad.mit.edu	37	2	190925048	190925048	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:190925048C>T	uc002urp.2	-	2	620	c.487G>A	c.(487-489)GTC>ATC	p.V163I		NM_005259	NP_005250	O14793	GDF8_HUMAN	myostatin precursor	163					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GGAGTCTCGACGGGTCTCAAA	0.383												
NAB1	4664	broad.mit.edu	37	2	191524601	191524601	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:191524601T>C	uc002usb.2	+	4	1271	c.699T>C	c.(697-699)GGT>GGC	p.G233G	NAB1_uc010fsc.2_Silent_p.G233G|NAB1_uc010fsd.2_Silent_p.G233G|NAB1_uc002usc.2_Silent_p.G233G|NAB1_uc010zgh.1_Silent_p.G233G	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	233	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AAATGATTGGTCACATCTTTG	0.438												
ALS2CR12	130540	broad.mit.edu	37	2	202173902	202173902	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:202173902G>A	uc010ftg.2	-	10	1191	c.747C>T	c.(745-747)TTC>TTT	p.F249F	ALS2CR12_uc002uya.3_Silent_p.F249F|ALS2CR12_uc010fth.2_RNA	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	249					regulation of GTPase activity		protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3						TTTCTCGCTCGAACTTCTCAT	0.403												
ALS2	57679	broad.mit.edu	37	2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	rs149670991	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:202589136G>A	uc002uyo.2	-	21	3750	c.3394C>T	c.(3394-3396)CGT>TGT	p.R1132C	ALS2_uc002uyp.3_Missense_Mutation_p.R1132C|ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1132	MORN 4.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7						TGACCATGACGCATATTATCT	0.413												
CYP20A1	57404	broad.mit.edu	37	2	204131350	204131350	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:204131350T>C	uc002uzv.3	+	5	1168	c.546T>C	c.(544-546)GGT>GGC	p.G182G	CYP20A1_uc002uzx.3_Silent_p.G80G|CYP20A1_uc010zif.1_Silent_p.G182G|CYP20A1_uc002uzy.3_Silent_p.G80G|CYP20A1_uc002uzw.3_RNA|CYP20A1_uc010ftw.2_5'UTR	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A,	182						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0						TGGTAATGGGTAGTACATTTG	0.403												
ICOS	29851	broad.mit.edu	37	2	204801578	204801578	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:204801578G>A	uc002vam.2	+	1	108	c.41G>A	c.(40-42)CGC>CAC	p.R14H	ICOS_uc010zip.1_Missense_Mutation_p.R14H|ICOS_uc010fua.2_Missense_Mutation_p.R14H	NM_012092	NP_036224	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator precursor	14					immune response|T cell costimulation	extracellular region					0						TTCTGCTTGCGCATTAAAGTT	0.358												
DYTN	391475	broad.mit.edu	37	2	207570544	207570544	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:207570544A>G	uc002vbr.1	-	4	467	c.350T>C	c.(349-351)CTC>CCC	p.L117P		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	117						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)		GTCTCCTGAGAGGGTTATTAG	0.502												
ACADL	33	broad.mit.edu	37	2	211089983	211089983	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:211089983G>A	uc002vdz.3	-	1	233	c.5C>T	c.(4-6)GCC>GTC	p.A2V	ACADL_uc010zjg.1_Missense_Mutation_p.A2V	NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	2					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		AAGGCGTGCGGCCATGTCCGA	0.751												
CPS1	1373	broad.mit.edu	37	2	211466978	211466978	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:211466978G>A	uc002vee.3	+	16	1892	c.1760G>A	c.(1759-1761)CGT>CAT	p.R587H	CPS1_uc010fur.2_Missense_Mutation_p.R593H|CPS1_uc010fus.2_Missense_Mutation_p.R136H	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	587	ATP-grasp 1.		R -> H (in CPS1D).		carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTGATGATCCGTTCCGCCTAT	0.468												
BARD1	580	broad.mit.edu	37	2	215593504	215593504	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:215593504T>C	uc002veu.2	-	11	2365	c.2230A>G	c.(2230-2232)AAT>GAT	p.N744D	BARD1_uc010zjm.1_3'UTR	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	744	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGTGATAATTACACAAATCT	0.478									Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
FN1	2335	broad.mit.edu	37	2	216226796	216226796	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:216226796G>A	uc002vfa.2	-	45	7524	c.7258C>T	c.(7258-7260)CGC>TGC	p.R2420C	FN1_uc002vfb.2_Missense_Mutation_p.R2208C|FN1_uc002vfc.2_Missense_Mutation_p.R2183C|FN1_uc002vfd.2_Missense_Mutation_p.R2364C|FN1_uc002vfe.2_Missense_Mutation_p.R2298C|FN1_uc002vff.2_Missense_Mutation_p.R2273C|FN1_uc002vfg.2_Missense_Mutation_p.R2239C|FN1_uc002vfh.2_Missense_Mutation_p.R2119C|FN1_uc002vfi.2_Missense_Mutation_p.R2389C|FN1_uc002vfj.2_Missense_Mutation_p.R2210C|FN1_uc002vez.2_Missense_Mutation_p.R583C|FN1_uc010zjp.1_Missense_Mutation_p.R957C	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2329	Fibrin-binding 2.|Fibronectin type-I 12.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTCACAGCGCCAGCCCTGA	0.468												
FN1	2335	broad.mit.edu	37	2	216274362	216274363	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:216274362_216274363GA>TT	uc002vfa.2	-	15	2488_2489	c.2222_2223TC>AA	c.(2221-2223)GTC>GAA	p.V741E	FN1_uc002vfb.2_Missense_Mutation_p.V741E|FN1_uc002vfc.2_Missense_Mutation_p.V741E|FN1_uc002vfd.2_Missense_Mutation_p.V741E|FN1_uc002vfe.2_Missense_Mutation_p.V741E|FN1_uc002vff.2_Missense_Mutation_p.V741E|FN1_uc002vfg.2_Missense_Mutation_p.V741E|FN1_uc002vfh.2_Missense_Mutation_p.V741E|FN1_uc002vfi.2_Missense_Mutation_p.V741E|FN1_uc002vfj.2_Missense_Mutation_p.V741E	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	741	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGAAGCTGAGACCCAGGAGAC	0.54												
TMEM169	92691	broad.mit.edu	37	2	216965029	216965029	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:216965029G>A	uc010zjr.1	+	4	984	c.658G>A	c.(658-660)GCC>ACC	p.A220T	TMEM169_uc010zjs.1_Missense_Mutation_p.A220T|TMEM169_uc002vfw.2_Missense_Mutation_p.A220T|TMEM169_uc002vfv.3_Missense_Mutation_p.A220T	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	220	Helical; (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCATCATGGCCATGGCTTC	0.547												
PNKD	25953	broad.mit.edu	37	2	219209543	219209543	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:219209543C>A	uc002vhn.2	+	10	1141	c.997C>A	c.(997-999)CTG>ATG	p.L333M	PNKD_uc002vhq.2_Missense_Mutation_p.L309M	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	myofibrillogenesis regulator 1 isoform 1	333						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding				0		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCATCTACCCTGGGAGAGGA	0.632												
VIL1	7429	broad.mit.edu	37	2	219295520	219295520	+	Missense_Mutation	SNP	G	G	A	rs150670051		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:219295520G>A	uc002via.2	+	10	1086	c.1021G>A	c.(1021-1023)GTC>ATC	p.V341I	VIL1_uc010zke.1_Missense_Mutation_p.V30I|VIL1_uc002vib.2_Missense_Mutation_p.V341I|VIL1_uc002vic.1_Missense_Mutation_p.V341I	NM_007127	NP_009058	P09327	VILI_HUMAN	villin 1	341	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGTCGGCCGTCTTTCAGCA	0.602												
TTLL4	9654	broad.mit.edu	37	2	219614783	219614783	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:219614783T>C	uc002viy.2	+	15	3157	c.2787T>C	c.(2785-2787)CGT>CGC	p.R929R	TTLL4_uc010zkl.1_Silent_p.R764R|TTLL4_uc010fvx.2_Silent_p.R865R|TTLL4_uc010zkm.1_Silent_p.R132R	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	929	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGATGATTCGTGACCTTCTGA	0.512												
ATG9A	79065	broad.mit.edu	37	2	220088634	220088634	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:220088634G>A	uc002vke.1	-	9	1562	c.1376C>T	c.(1375-1377)TCG>TTG	p.S459L	ATG9A_uc002vkd.1_Intron|ATG9A_uc002vkf.1_Missense_Mutation_p.S459L	NM_001077198	NP_001070666	Q7Z3C6	ATG9A_HUMAN	APG9 autophagy 9-like 1	459	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)		CCGGGTCTGCGAGCGGTGGGC	0.612												
SPEG	10290	broad.mit.edu	37	2	220348545	220348545	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:220348545C>T	uc010fwg.2	+	30	6360	c.6360C>T	c.(6358-6360)CTC>CTT	p.L2120L		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2120					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)		AGCCCCCACTCGAGAACCGGG	0.587												
KIAA1486	57624	broad.mit.edu	37	2	226378307	226378307	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:226378307A>G	uc002voe.2	+	3	617	c.442A>G	c.(442-444)AGC>GGC	p.S148G	KIAA1486_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624	148										ovary(2)|central_nervous_system(1)	3		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)		GAGGGACCCCAGCACCAAGCT	0.572												
COL4A3	1285	broad.mit.edu	37	2	228173957	228173957	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:228173957G>A	uc002vom.1	+	50	4840	c.4678G>A	c.(4678-4680)GTT>ATT	p.V1560I	COL4A3_uc002von.1_Missense_Mutation_p.V1560I|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_5'UTR	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	1560	Collagen IV NC1.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGCCATAGCCGTTCACAGCCA	0.483												
SPHKAP	80309	broad.mit.edu	37	2	228882972	228882972	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:228882972G>A	uc002vpq.2	-	7	2645	c.2598C>T	c.(2596-2598)AGC>AGT	p.S866S	SPHKAP_uc002vpp.2_Silent_p.S866S|SPHKAP_uc010zlx.1_Silent_p.S866S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	866						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTGGACTGGCTGACCGTTG	0.488												
DNER	92737	broad.mit.edu	37	2	230456366	230456366	+	Missense_Mutation	SNP	G	G	A	rs143332732	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:230456366G>A	uc002vpv.2	-	2	662	c.515C>T	c.(514-516)ACG>ATG	p.T172M		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	172	Extracellular (Potential).				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			lung(5)|ovary(2)|skin(1)	8		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAGTGTCACCGTTGCCTGAGA	0.527												
GPR55	9290	broad.mit.edu	37	2	231775353	231775353	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:231775353C>T	uc002vrg.2	-	2	518	c.325G>A	c.(325-327)GTC>ATC	p.V109I	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.V109I	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	109	Helical; Name=3; (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ATGGTGAAGACGCTTCCGTAC	0.582												
DIS3L2	129563	broad.mit.edu	37	2	232880239	232880239	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:232880239C>T	uc010fxz.2	+	3	344	c.68C>T	c.(67-69)GCT>GTT	p.A23V	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.A23V	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	23							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TCTGCTGTGGCTGGTCCACAT	0.403												
DIS3L2	129563	broad.mit.edu	37	2	233199145	233199145	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:233199145G>A	uc010fxz.2	+	18	2501	c.2225G>A	c.(2224-2226)CGC>CAC	p.R742H	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	742							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGTAACGACCGCCGCATGGCG	0.617												
UGT1A5	54579	broad.mit.edu	37	2	234622259	234622259	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234622259C>A	uc002vuw.2	+	1	622	c.622C>A	c.(622-624)CTG>ATG	p.L208M	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.L208M	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	208					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		CATGACATTCCTGCAAAGGGT	0.463												
UGT1A4	54657	broad.mit.edu	37	2	234627640	234627640	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234627640G>A	uc002vux.2	+	1	203	c.174G>A	c.(172-174)GCG>GCA	p.A58A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.A58A	NM_007120	NP_009051	P22310	UD14_HUMAN	UDP glycosyltransferase 1 family, polypeptide A4	58					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)	GCCACCAGGCGGTGGTCCTCA	0.577												
DNAJB3	414061	broad.mit.edu	37	2	234652344	234652344	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234652344C>T	uc002vuz.2	-	1	318	c.219G>A	c.(217-219)GCG>GCA	p.A73A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 3	73					protein folding		heat shock protein binding|unfolded protein binding				0						AGCCGCCCTCCGCCCCCGCCT	0.647												
UGT1A5	54579	broad.mit.edu	37	2	234676526	234676526	+	Missense_Mutation	SNP	C	C	T	rs144978321		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234676526C>T	uc002vuw.2	+	3	1031	c.1031C>T	c.(1030-1032)TCG>TTG	p.S344L	UGT1A8_uc010zmv.1_Missense_Mutation_p.S340L|UGT1A8_uc002vup.2_Missense_Mutation_p.S340L|UGT1A10_uc002vuq.3_Missense_Mutation_p.S340L|UGT1A10_uc002vur.2_Missense_Mutation_p.S340L|UGT1A9_uc010zmw.1_Missense_Mutation_p.S340L|UGT1A9_uc002vus.2_Missense_Mutation_p.S340L|UGT1A7_uc010zmx.1_Missense_Mutation_p.S340L|UGT1A7_uc002vut.2_Missense_Mutation_p.S340L|UGT1A6_uc002vuu.2_Missense_Mutation_p.S75L|UGT1A6_uc010zmy.1_Missense_Mutation_p.S342L|UGT1A6_uc002vuv.3_Missense_Mutation_p.S342L|UGT1A5_uc010zmz.1_Missense_Mutation_p.S344L|UGT1A4_uc010zna.1_Missense_Mutation_p.S344L|UGT1A4_uc002vux.2_Missense_Mutation_p.S344L|UGT1A3_uc010znb.1_Missense_Mutation_p.S344L|UGT1A3_uc002vuy.2_Missense_Mutation_p.S344L|UGT1A9_uc002vva.2_RNA|UGT1A1_uc010znc.1_Missense_Mutation_p.S343L|UGT1A1_uc002vvb.2_Missense_Mutation_p.S343L	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	344					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACCCGACCATCGAATCTTGCG	0.448												
AGAP1	116987	broad.mit.edu	37	2	236626247	236626247	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:236626247G>A	uc002vvs.2	+	3	864	c.269G>A	c.(268-270)CGG>CAG	p.R90Q	AGAP1_uc002vvt.2_Missense_Mutation_p.R90Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	90	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CTGGTGCACCGGTACCTGACG	0.463												
CXCR7	57007	broad.mit.edu	37	2	237490003	237490003	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:237490003G>A	uc010fyq.2	+	3	1125	c.895G>A	c.(895-897)GTC>ATC	p.V299I	CXCR7_uc002vwd.2_Missense_Mutation_p.V299I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	chemokine orphan receptor 1	299	Helical; Name=7; (Potential).				interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GGCCCTGCATGTCACACAGTG	0.582												
COL6A3	1293	broad.mit.edu	37	2	238296700	238296700	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:238296700G>C	uc002vwl.2	-	4	1122	c.837C>G	c.(835-837)ATC>ATG	p.I279M	COL6A3_uc002vwo.2_Missense_Mutation_p.I73M|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Missense_Mutation_p.I73M|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.I279M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	279	VWFA 2.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCCCACTCGGATCTGCTGAG	0.502												
TRAF3IP1	26146	broad.mit.edu	37	2	239237867	239237867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:239237867C>T	uc002vye.2	+	5	918	c.799C>T	c.(799-801)CGA>TGA	p.R267*	TRAF3IP1_uc002vyf.2_Nonsense_Mutation_p.R267*	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting	267	Abolishes microtubules-binding when missing.|DISC1-interaction domain.|Arg-rich.					cytoplasm|cytoskeleton	protein binding			ovary(1)	1		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		agacagggaccgagagcgcga	0.114												
HDAC4	9759	broad.mit.edu	37	2	240111758	240111758	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:240111758G>A	uc002vyk.3	-	4	902	c.110C>T	c.(109-111)GCG>GTG	p.A37V	HDAC4_uc010fyz.1_Missense_Mutation_p.A32V|HDAC4_uc010zoa.1_Missense_Mutation_p.A32V|HDAC4_uc010fza.2_Missense_Mutation_p.A37V|HDAC4_uc002vyl.1_RNA|HDAC4_uc010fyy.2_5'UTR	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	37					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CAGAGGCAGCGCCGTGGCCAC	0.677												
CAPN10	11132	broad.mit.edu	37	2	241534459	241534459	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241534459C>T	uc002vzk.1	+	7	1200	c.1016C>T	c.(1015-1017)ACG>ATG	p.T339M	CAPN10_uc010zoh.1_Missense_Mutation_p.T339M|CAPN10_uc002vzl.1_Missense_Mutation_p.T339M|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.T211M|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	339	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CTCTGCCATACGCGGGCGCTG	0.642												
CAPN10	11132	broad.mit.edu	37	2	241537333	241537333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241537333C>T	uc002vzk.1	+	10	1956	c.1772C>T	c.(1771-1773)GCA>GTA	p.A591V	CAPN10_uc002vzl.1_Missense_Mutation_p.A436V|CAPN10_uc002vzm.1_Missense_Mutation_p.A57V|CAPN10_uc002vzn.1_Missense_Mutation_p.A463V|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	591	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			ovary(3)|large_intestine(2)|lung(1)	6		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGCCAGGACGCACCCCCACTG	0.687												
AGXT	189	broad.mit.edu	37	2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241817502G>A	uc002waa.3	+	10	1127	c.1006G>A	c.(1006-1008)GTC>ATC	p.V336I	AGXT_uc002wab.3_Missense_Mutation_p.V214I	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity				0		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAGAGACATCGTCAGCTACGT	0.617												
C2orf54	79919	broad.mit.edu	37	2	241826549	241826549	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:241826549G>A	uc002wae.3	-	5	1441	c.1282C>T	c.(1282-1284)CGG>TGG	p.R428W	C2orf54_uc002wac.2_Missense_Mutation_p.R260W|C2orf54_uc002wad.2_Missense_Mutation_p.R279W	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	hypothetical protein LOC79919 isoform 1	428											0		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCAGAGATCCGGTCCTTATCC	0.592												
ATG4B	23192	broad.mit.edu	37	2	242606145	242606145	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242606145C>T	uc002wbv.2	+	8	727	c.624C>T	c.(622-624)GCC>GCT	p.A208A	ATG4B_uc002wbu.2_Silent_p.A134A|ATG4B_uc002wbw.2_Silent_p.A208A|ATG4B_uc010zox.1_Silent_p.A194A|ATG4B_uc010zoy.1_Silent_p.A134A|ATG4B_uc010fzp.2_Silent_p.A208A|ATG4B_uc010zoz.1_Silent_p.A134A|ATG4B_uc002wby.2_5'Flank	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	208					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GATTCCCTGCCGGAGCTGAGG	0.617												
ATG4B	23192	broad.mit.edu	37	2	242608088	242608088	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242608088G>A	uc002wbv.2	+	10	1048	c.945G>A	c.(943-945)CCG>CCA	p.P315P	ATG4B_uc002wbu.2_Silent_p.P241P|ATG4B_uc002wbw.2_Silent_p.P315P|ATG4B_uc010zox.1_Silent_p.P301P|ATG4B_uc010zoy.1_Silent_p.P241P|ATG4B_uc010fzp.2_Silent_p.P315P|ATG4B_uc010zoz.1_Silent_p.P241P|ATG4B_uc002wby.2_Silent_p.P68P	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	315					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		AGCTTGACCCGTCCATCGCTG	0.592												
ATG4B	23192	broad.mit.edu	37	2	242610802	242610802	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242610802G>A	uc002wbv.2	+	12	1193	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	ATG4B_uc002wbu.2_Missense_Mutation_p.V290I|ATG4B_uc002wbw.2_Missense_Mutation_p.V364I|ATG4B_uc010zox.1_Missense_Mutation_p.V350I|ATG4B_uc010zoy.1_Missense_Mutation_p.V290I|ATG4B_uc010fzp.2_Missense_Mutation_p.V364I|ATG4B_uc010zoz.1_Missense_Mutation_p.V290I|ATG4B_uc002wby.2_Missense_Mutation_p.V117I	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	APG4 autophagy 4 homolog B isoform a	364					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CTGCCCCGACGTCCTGAACCT	0.607												
GAL3ST2	64090	broad.mit.edu	37	2	242742903	242742903	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:242742903G>A	uc002wcj.1	+	4	650	c.519G>A	c.(517-519)TCG>TCA	p.S173S		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	173	Lumenal (Potential).				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCTGGCCTCGCCGCGGACGT	0.632												
SNPH	9751	broad.mit.edu	37	20	1285981	1285981	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:1285981C>T	uc002wes.2	+	6	1004	c.768C>T	c.(766-768)GAC>GAT	p.D256D	SNPH_uc002wet.2_Silent_p.D300D	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	256					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GCCGGACGGACGCGCTGGAAG	0.682												
NSFL1C	55968	broad.mit.edu	37	20	1426391	1426391	+	Silent	SNP	G	G	A	rs141160175		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:1426391G>A	uc002wfc.2	-	8	1818	c.870C>T	c.(868-870)GAC>GAT	p.D290D	NSFL1C_uc002wfd.2_Silent_p.D179D|NSFL1C_uc002wfe.2_Silent_p.D259D|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.D56D	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	p47 protein isoform a	290						chromosome|Golgi stack|nucleus	lipid binding|protein binding				0						GCTCTGATTCGTCGATTAAGA	0.537												
STK35	140901	broad.mit.edu	37	20	2097724	2097724	+	Silent	SNP	G	G	A	rs147812244	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:2097724G>A	uc010gak.2	+	3	1305	c.1305G>A	c.(1303-1305)GCG>GCA	p.A435A	STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Silent_p.A302A	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	435	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						CAGCCAAGGCGGACATCTTTG	0.478												
TMC2	117532	broad.mit.edu	37	20	2582779	2582779	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:2582779A>C	uc002wgf.1	+	11	1260	c.1245A>C	c.(1243-1245)CAA>CAC	p.Q415H	TMC2_uc002wgg.1_Missense_Mutation_p.Q399H|TMC2_uc010zpw.1_Missense_Mutation_p.Q247H|TMC2_uc010zpx.1_Missense_Mutation_p.Q246H	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	415	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						TGGATGAACAAGAGAGTAACA	0.408												
ADRA1D	146	broad.mit.edu	37	20	4229076	4229076	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:4229076C>T	uc002wkr.2	-	1	584	c.529G>A	c.(529-531)GTG>ATG	p.V177M		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	177	Helical; Name=3; (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGCACAGCACGTCCACGGCG	0.657												
SLC23A2	9962	broad.mit.edu	37	20	4854641	4854641	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:4854641C>T	uc002wlg.1	-	11	1418	c.1043G>A	c.(1042-1044)CGC>CAC	p.R348H	SLC23A2_uc010zqr.1_Missense_Mutation_p.R233H|SLC23A2_uc002wlh.1_Missense_Mutation_p.R348H|SLC23A2_uc002wli.2_Missense_Mutation_p.R347H	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	348					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2						GGCATCTGTGCGAGCATAGAA	0.542												
LRRN4	164312	broad.mit.edu	37	20	6022019	6022019	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:6022019C>T	uc002wmo.2	-	5	2096	c.1872G>A	c.(1870-1872)TCG>TCA	p.S624S		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	624	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(3)	3						CCCCCACCACCGACTGGTTCC	0.701												
PLCB1	23236	broad.mit.edu	37	20	8720006	8720006	+	Silent	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:8720006A>T	uc002wnb.2	+	21	2310	c.2307A>T	c.(2305-2307)CCA>CCT	p.P769P	PLCB1_uc010zrb.1_Silent_p.P668P|PLCB1_uc002wna.2_Silent_p.P769P|PLCB1_uc002wnc.1_Silent_p.P668P|PLCB1_uc002wnd.1_Silent_p.P346P	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	769					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						CCATTCGGCCAGGTATGGGTA	0.393												
PAK7	57144	broad.mit.edu	37	20	9546634	9546634	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:9546634A>G	uc002wnl.2	-	6	1933	c.1388T>C	c.(1387-1389)GTA>GCA	p.V463A	PAK7_uc002wnk.2_Missense_Mutation_p.V463A|PAK7_uc002wnj.2_Missense_Mutation_p.V463A|PAK7_uc010gby.1_Missense_Mutation_p.V463A	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	p21-activated kinase 7	463	Protein kinase.|ATP (By similarity).						ATP binding|protein binding|protein serine/threonine kinase activity	p.V463L(1)		lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)			GGCGATGCATACGATGCCGGT	0.527												
TASP1	55617	broad.mit.edu	37	20	13514787	13514787	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:13514787T>C	uc002woi.2	-	9	794	c.677A>G	c.(676-678)GAA>GGA	p.E226G	TASP1_uc010zri.1_Intron|TASP1_uc002woh.2_Missense_Mutation_p.E203G|TASP1_uc010zrj.1_RNA	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	taspase 1 precursor	226					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity				0						TGAGTCATTTTCCTGCAGAGC	0.473												
MACROD2	140733	broad.mit.edu	37	20	15480470	15480470	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:15480470G>T	uc002wou.2	+	8	887	c.623G>T	c.(622-624)TGG>TTG	p.W208L	MACROD2_uc002wot.2_Missense_Mutation_p.W208L|MACROD2_uc002woz.2_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	208	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATTAAGGAATGGCTTGCCAAG	0.433												
MACROD2	140733	broad.mit.edu	37	20	15948229	15948229	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:15948229C>T	uc002wou.2	+	13	1203	c.939C>T	c.(937-939)GGC>GGT	p.G313G	MACROD2_uc002wot.2_Silent_p.G313G|MACROD2_uc002woz.2_Silent_p.G78G|MACROD2_uc002wpb.2_Silent_p.G78G	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	313	Glu-rich.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTACAAAAGGCGGTGAAGTGA	0.378												
KIF16B	55614	broad.mit.edu	37	20	16360306	16360306	+	Missense_Mutation	SNP	G	G	A	rs142424331		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:16360306G>A	uc002wpg.1	-	19	2499	c.2341C>T	c.(2341-2343)CGT>TGT	p.R781C	KIF16B_uc002wpe.1_Missense_Mutation_p.R163C|KIF16B_uc002wpf.1_Missense_Mutation_p.R163C|KIF16B_uc010gch.1_Missense_Mutation_p.R781C|KIF16B_uc010gci.1_Missense_Mutation_p.R781C|KIF16B_uc010gcj.1_Missense_Mutation_p.R792C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	781	Glu-rich.|Potential.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						ACCTCCCCACGCCGCAGGAGC	0.592												
OTOR	56914	broad.mit.edu	37	20	16729075	16729075	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:16729075C>T	uc002wpj.2	+	1	73	c.29C>T	c.(28-30)CCG>CTG	p.P10L	OTOR_uc002wpk.2_5'Flank	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	otoraplin precursor	10					sensory perception of sound	extracellular region				ovary(1)|central_nervous_system(1)	2						CTTTTCCTCCCGGGTCTTGTG	0.433												
CSRP2BP	57325	broad.mit.edu	37	20	18139825	18139825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:18139825G>T	uc002wqj.2	+	5	1220	c.598G>T	c.(598-600)GGA>TGA	p.G200*	CSRP2BP_uc002wqk.2_Nonsense_Mutation_p.G72*|CSRP2BP_uc010zru.1_Nonsense_Mutation_p.G72*	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	200					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			lung(3)|ovary(2)|skin(1)	6						TGGAGAGCCAGGATGGTGGAA	0.488												
SEC23B	10483	broad.mit.edu	37	20	18507120	18507120	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:18507120G>A	uc002wqz.1	+	8	1381	c.938G>A	c.(937-939)CGT>CAT	p.R313H	SEC23B_uc002wra.1_Missense_Mutation_p.R313H|SEC23B_uc002wrb.1_Missense_Mutation_p.R313H|SEC23B_uc010zsb.1_Missense_Mutation_p.R295H|SEC23B_uc002wrc.1_Missense_Mutation_p.R313H	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	313			R -> H.		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1						ATTCCTATTCGTTCTTGGCAT	0.458												
NKX2-2	4821	broad.mit.edu	37	20	21492970	21492970	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:21492970G>A	uc002wsi.2	-	2	770	c.413C>T	c.(412-414)GCG>GTG	p.A138V		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	138	Homeobox.				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						GTAGGTCTGCGCCTTGGAGAA	0.697												
GZF1	64412	broad.mit.edu	37	20	23350290	23350290	+	Missense_Mutation	SNP	G	G	A	rs144872945	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:23350290G>A	uc010gdb.2	+	6	1871	c.1697G>A	c.(1696-1698)CGC>CAC	p.R566H	GZF1_uc002wsy.2_Missense_Mutation_p.R566H|GZF1_uc010zsq.1_Missense_Mutation_p.R90H|GZF1_uc010zsr.1_Missense_Mutation_p.R75H|GZF1_uc002wsz.2_Missense_Mutation_p.R566H	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	566	C2H2-type 9.				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			kidney(1)	1	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGCGCCACCGCCGCATCCAC	0.632												
TM9SF4	9777	broad.mit.edu	37	20	30749115	30749115	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30749115G>A	uc002wxj.2	+	17	1961	c.1726G>A	c.(1726-1728)GGG>AGG	p.G576R	TM9SF4_uc010zts.1_Missense_Mutation_p.G483R|TM9SF4_uc002wxk.2_Missense_Mutation_p.G559R|TM9SF4_uc010gdz.2_Missense_Mutation_p.G455R	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	576	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCTAGTCTCCGGGGGCTCTGC	0.502												
KIF3B	9371	broad.mit.edu	37	20	30915466	30915466	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30915466T>C	uc002wxq.2	+	7	2135	c.1968_splice	c.e7+2	p.R656_splice	KIF3B_uc010ztw.1_Splice_Site_p.R594_splice	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B						anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGATATAGGGTGAGAAGATCC	0.468												
ASXL1	171023	broad.mit.edu	37	20	30956896	30956896	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30956896G>A	uc002wxs.2	+	3	648	c.222G>A	c.(220-222)CTG>CTA	p.L74L	ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_Silent_p.L16L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	74					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						TTTATAAACTGCCTGGCCGAA	0.358			F|N|Mis		MDS|CMML							
CDK5RAP1	51654	broad.mit.edu	37	20	31975140	31975140	+	Silent	SNP	C	C	T	rs143485633	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:31975140C>T	uc010gek.2	-	6	868	c.744G>A	c.(742-744)ACG>ACA	p.T248T	CDK5RAP1_uc002wyy.2_Silent_p.T158T|CDK5RAP1_uc002wyz.2_Silent_p.T248T|CDK5RAP1_uc002wza.2_Silent_p.T248T|CDK5RAP1_uc010gel.2_Silent_p.T157T|CDK5RAP1_uc010gem.2_Silent_p.T248T|CDK5RAP1_uc002wzc.1_Silent_p.T248T|CDK5RAP1_uc010gen.2_Silent_p.T248T	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	248					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			ovary(2)|skin(2)|lung(1)	5						CAAAGGCAGACGTGGCACTGG	0.448												
SNTA1	6640	broad.mit.edu	37	20	32026768	32026768	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32026768C>T	uc002wzd.1	-	2	647	c.375G>A	c.(373-375)CAG>CAA	p.Q125Q	SNTA1_uc010zuf.1_Silent_p.Q125Q	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	acidic alpha 1 syntrophin	125	PH 1.|PDZ.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			skin(1)	1						GGGCCTCTGTCTGGTCAGCTG	0.537												
ZNF341	84905	broad.mit.edu	37	20	32378977	32378977	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32378977A>G	uc002wzy.2	+	15	2239	c.2219A>G	c.(2218-2220)GAC>GGC	p.D740G	ZNF341_uc002wzx.2_Missense_Mutation_p.D733G|ZNF341_uc010geq.2_Missense_Mutation_p.D650G|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Missense_Mutation_p.D167G	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAGGACAAGGACCTGCAAACC	0.662												
AHCY	191	broad.mit.edu	37	20	32880243	32880243	+	Silent	SNP	G	G	A	rs141935523		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32880243G>A	uc002xai.2	-	4	505	c.366C>T	c.(364-366)GAC>GAT	p.D122D	AHCY_uc002xaj.2_Silent_p.D94D	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	122					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						TGAGGGGCCCGTCCTTGAAGT	0.617												
AHCY	191	broad.mit.edu	37	20	32883218	32883218	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32883218C>T	uc002xai.2	-	2	341	c.202G>A	c.(202-204)GTC>ATC	p.V68I	AHCY_uc002xaj.2_Missense_Mutation_p.V40I|AHCY_uc010get.2_Missense_Mutation_p.V68I	NM_000687	NP_000678	P23526	SAHH_HUMAN	adenosylhomocysteinase isoform 1	68					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding				0						CCCAGGGTGACGAGGGTCTCA	0.652												
ITCH	83737	broad.mit.edu	37	20	32996530	32996530	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:32996530T>C	uc010geu.1	+	4	336	c.144T>C	c.(142-144)GAT>GAC	p.D48D	ITCH_uc002xak.2_Silent_p.D48D|ITCH_uc010zuj.1_Intron	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	48	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TCACAGTAGATGGACAGTCAA	0.368												
ACSS2	55902	broad.mit.edu	37	20	33514064	33514064	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33514064C>T	uc002xbd.2	+	16	2004	c.1883C>T	c.(1882-1884)ACC>ATC	p.T628I	ACSS2_uc002xbc.2_Missense_Mutation_p.T533I|ACSS2_uc010zum.1_RNA|ACSS2_uc010gey.2_Missense_Mutation_p.T641I|ACSS2_uc002xbe.2_Missense_Mutation_p.T336I|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	628					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCAAGCTCACCGAGGAGCTC	0.577												
MYH7B	57644	broad.mit.edu	37	20	33568503	33568503	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33568503G>A	uc010gfa.1	+	5	586	c.465G>A	c.(463-465)GCG>GCA	p.A155A	MYH7B_uc002xbi.1_Silent_p.A197A			A7E2Y1	MYH7B_HUMAN	RecName: Full=Myosin-7B; AltName: Full=Myosin heavy chain 7B, cardiac muscle beta isoform; AltName: Full=Myosin cardiac muscle beta chain; AltName: Full=Antigen MLAA-21; AltName: Full=Slow A MYH14;	155	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ATATATATGCGGTGGCGGACA	0.612												
MYH7B	57644	broad.mit.edu	37	20	33582133	33582133	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33582133C>T	uc002xbi.1	+	25	2847	c.2755C>T	c.(2755-2757)CGC>TGC	p.R919C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	877	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGAGGCCAAGCGCCAGGAACT	0.701												
MYH7B	57644	broad.mit.edu	37	20	33588235	33588235	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33588235C>T	uc002xbi.1	+	37	5139	c.5047C>T	c.(5047-5049)CGT>TGT	p.R1683C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1641	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATGCCACCCGTCAGGCCAC	0.672												
TRPC4AP	26133	broad.mit.edu	37	20	33592318	33592318	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33592318C>T	uc002xbk.2	-	17	2026	c.1992G>A	c.(1990-1992)ACG>ACA	p.T664T	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.T255T|TRPC4AP_uc002xbl.2_Silent_p.T656T|TRPC4AP_uc010zur.1_Silent_p.T625T	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	664					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGGACATCTGCGTGGGCACCT	0.612												
CEP250	11190	broad.mit.edu	37	20	34092291	34092291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:34092291C>T	uc002xcm.2	+	31	6765	c.6094C>T	c.(6094-6096)CGA>TGA	p.R2032*	CEP250_uc010zve.1_Nonsense_Mutation_p.R1400*	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	2032	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCAGGATCTCCGATACCAGGA	0.592												
CPNE1	8904	broad.mit.edu	37	20	34214296	34214296	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:34214296C>T	uc002xdf.2	-	18	1844	c.1481G>A	c.(1480-1482)CGG>CAG	p.R494Q	CPNE1_uc002xdc.2_Missense_Mutation_p.R156Q|CPNE1_uc010zvj.1_Missense_Mutation_p.R499Q|CPNE1_uc002xde.2_Missense_Mutation_p.R470Q|CPNE1_uc002xdg.2_Missense_Mutation_p.R438Q|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdi.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdj.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdk.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdl.2_Missense_Mutation_p.R494Q|CPNE1_uc002xdm.2_Missense_Mutation_p.R494Q	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	494	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAATGCCTCCCGAGGGGCCTG	0.572												
CPNE1	8904	broad.mit.edu	37	20	34218859	34218859	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:34218859A>G	uc002xdf.2	-	13	1322	c.959T>C	c.(958-960)CTG>CCG	p.L320P	CPNE1_uc002xdc.2_5'UTR|CPNE1_uc010zvj.1_Missense_Mutation_p.L325P|CPNE1_uc002xde.2_Missense_Mutation_p.L296P|CPNE1_uc002xdg.2_Missense_Mutation_p.L320P|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.L320P|CPNE1_uc002xdi.2_Missense_Mutation_p.L320P|CPNE1_uc002xdj.2_Missense_Mutation_p.L320P|CPNE1_uc002xdk.2_Missense_Mutation_p.L320P|CPNE1_uc002xdl.2_Missense_Mutation_p.L320P|CPNE1_uc002xdm.2_Missense_Mutation_p.L320P|CPNE1_uc010gfk.1_3'UTR	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	copine I isoform a	320	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			upper_aerodigestive_tract(1)	1	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CACACTCCACAGTGCCATCAG	0.572												
PPP1R16B	26051	broad.mit.edu	37	20	37529261	37529261	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:37529261A>G	uc002xje.2	+	5	694	c.505A>G	c.(505-507)ATG>GTG	p.M169V	PPP1R16B_uc010ggc.2_Missense_Mutation_p.M169V	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	169					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)				GGATGGGAACATGCCATATGA	0.572												
FAM83D	81610	broad.mit.edu	37	20	37580194	37580194	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:37580194G>A	uc002xjg.2	+	4	920	c.879G>A	c.(877-879)ACG>ACA	p.T293T		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	263					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				TTACATGGACGGATGGCAAAT	0.398												
MAFB	9935	broad.mit.edu	37	20	39317196	39317196	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39317196C>T	uc002xji.2	-	1	681	c.295G>A	c.(295-297)GCG>ACG	p.A99T		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	99					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				AGGTTGAGCGCCTCGGGGTTC	0.627			T	IGH@	MM							
PLCG1	5335	broad.mit.edu	37	20	39792073	39792073	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39792073G>A	uc002xjp.1	+	9	966	c.845G>A	c.(844-846)CGA>CAA	p.R282Q	PLCG1_uc002xjo.1_Missense_Mutation_p.R282Q|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	282					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)				AGCTTCCTCCGAGACCCCTTA	0.557												
LPIN3	64900	broad.mit.edu	37	20	39983322	39983322	+	Missense_Mutation	SNP	G	G	A	rs148237195	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39983322G>A	uc002xjx.2	+	12	1656	c.1565G>A	c.(1564-1566)CGG>CAG	p.R522Q	LPIN3_uc010ggh.2_Missense_Mutation_p.R523Q|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	522					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				AAGATGCCCCGGAAGGGTGGG	0.617												
EMILIN3	90187	broad.mit.edu	37	20	39991679	39991679	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:39991679C>A	uc002xjy.1	-	4	754	c.530G>T	c.(529-531)GGG>GTG	p.G177V		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	177						proteinaceous extracellular matrix				ovary(1)	1		Myeloproliferative disorder(115;0.00425)				ACCAAACAGCCCTGGGCCTTT	0.597												
SFRS6	6431	broad.mit.edu	37	20	42088683	42088683	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:42088683G>A	uc010zwg.1	+	4	562	c.392G>A	c.(391-393)CGA>CAA	p.R131Q	SFRS6_uc002xki.2_Missense_Mutation_p.R2Q|SFRS6_uc002xkk.2_Missense_Mutation_p.R131Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	arginine/serine-rich splicing factor 6	131	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GATTTTATGCGACAAGCAGGT	0.393												
JPH2	57158	broad.mit.edu	37	20	42788552	42788552	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:42788552A>G	uc002xli.1	-	2	1748	c.875T>C	c.(874-876)ATG>ACG	p.M292T		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	292	MORN 7.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTCGCCCATGTAGGTCTC	0.701												
PKIG	11142	broad.mit.edu	37	20	43243243	43243243	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:43243243C>T	uc002xmg.2	+	5	575	c.46C>T	c.(46-48)CGG>TGG	p.R16W	PKIG_uc002xmh.2_Missense_Mutation_p.R16W|PKIG_uc002xmi.2_Missense_Mutation_p.R16W	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	cAMP-dependent protein kinase inhibitor gamma	16							cAMP-dependent protein kinase inhibitor activity|protein binding				0		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CTCCTGTGACCGGACAGGCCG	0.627												
PABPC1L	80336	broad.mit.edu	37	20	43545432	43545432	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:43545432C>T	uc010ggv.1	+	3	505	c.423C>T	c.(421-423)GGC>GGT	p.G141G	PABPC1L_uc010zwq.1_RNA	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	poly(A)-binding protein, cytoplasmic 1-like	141	RRM 2.						nucleotide binding|RNA binding			ovary(1)	1						GGGGTTTCGGCTTTGTCCATT	0.577												
SNX21	90203	broad.mit.edu	37	20	44469465	44469465	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:44469465G>A	uc002xpv.1	+	4	724	c.635G>A	c.(634-636)CGT>CAT	p.R212H	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R23H|SNX21_uc002xpx.2_Missense_Mutation_p.R202H|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R23H|SNX21_uc002xpz.1_Missense_Mutation_p.R23H	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	sorting nexin 21 isoform a	212	PX.	Phosphatidylinositol 3-phosphate (By similarity).			cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				ATTGCCCGCCGTAGCCGGGCC	0.642												
ACOT8	10005	broad.mit.edu	37	20	44470568	44470568	+	Missense_Mutation	SNP	C	C	T	rs150475004		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:44470568C>T	uc002xqa.1	-	6	950	c.869G>A	c.(868-870)CGG>CAG	p.R290Q	SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpv.1_3'UTR|SNX21_uc002xpw.1_3'UTR|SNX21_uc002xpx.2_3'UTR|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_3'UTR|SNX21_uc002xpz.1_3'UTR	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	290					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ACGCCACAGCCGCCCATGGAC	0.547												
ACOT8	10005	broad.mit.edu	37	20	44472981	44472981	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:44472981T>C	uc002xqa.1	-	4	648	c.567A>G	c.(565-567)CCA>CCG	p.P189P	ACOT8_uc010zxe.1_Silent_p.P189P|ACOT8_uc002xqc.1_Silent_p.P136P|ACOT8_uc010zxf.1_Silent_p.P69P	NM_005469	NP_005460	O14734	ACOT8_HUMAN	peroxisomal acyl-CoA thioesterase 1 isoform a	189					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				ATGGGTTTACTGGCTTGATCT	0.547												
ELMO2	63916	broad.mit.edu	37	20	45002176	45002176	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45002176T>C	uc002xrt.1	-	16	1490	c.1280_splice	c.e16-1	p.P427_splice	ELMO2_uc010zxq.1_Splice_Site_p.P159_splice|ELMO2_uc002xrs.1_Splice_Site_p.P174_splice|ELMO2_uc002xru.1_Splice_Site_p.P427_splice|ELMO2_uc010zxr.1_Splice_Site_p.P439_splice|ELMO2_uc010zxs.1_Splice_Site_p.P244_splice|ELMO2_uc002xrv.1_Splice_Site_p.P146_splice|ELMO2_uc002xrw.2_Intron	NM_133171	NP_573403	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				CTTCATTTGCTGTGGAAGTGA	0.488												
SLC13A3	64849	broad.mit.edu	37	20	45228639	45228639	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45228639C>T	uc002xsf.1	-	4	617	c.579G>A	c.(577-579)ACG>ACA	p.T193T	SLC13A3_uc010ghn.1_Silent_p.T162T|SLC13A3_uc010zxw.1_Intron|SLC13A3_uc002xsg.1_Silent_p.T146T|SLC13A3_uc010gho.1_Silent_p.T146T|SLC13A3_uc010zxx.1_Silent_p.T95T	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	193	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACTGCATCTCCGTGGGCACAG	0.468												
SLC2A10	81031	broad.mit.edu	37	20	45353746	45353746	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45353746A>G	uc002xsl.2	+	2	168	c.71A>G	c.(70-72)TAT>TGT	p.Y24C		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	24	Helical; Name=1; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ACCTTTGGTTATGAACTGGCA	0.552												
SLC2A10	81031	broad.mit.edu	37	20	45354606	45354606	+	Missense_Mutation	SNP	G	G	A	rs139932041		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45354606G>A	uc002xsl.2	+	2	1028	c.931G>A	c.(931-933)GTC>ATC	p.V311I		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	311	Helical; Name=9; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GGCCCTGTCCGTCAGTGGCAT	0.662												
ZMYND8	23613	broad.mit.edu	37	20	45874806	45874806	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45874806G>A	uc002xta.1	-	14	2424	c.2170C>T	c.(2170-2172)CGG>TGG	p.R724W	ZMYND8_uc010ghq.1_Missense_Mutation_p.R401W|ZMYND8_uc010ghr.1_Missense_Mutation_p.R699W|ZMYND8_uc002xst.1_Missense_Mutation_p.R652W|ZMYND8_uc002xsu.1_Missense_Mutation_p.R724W|ZMYND8_uc002xsv.1_Missense_Mutation_p.R652W|ZMYND8_uc002xsw.1_Missense_Mutation_p.R476W|ZMYND8_uc002xsx.1_Missense_Mutation_p.R476W|ZMYND8_uc002xsy.1_Missense_Mutation_p.R699W|ZMYND8_uc002xsz.1_Missense_Mutation_p.R661W|ZMYND8_uc010zxy.1_Missense_Mutation_p.R751W|ZMYND8_uc002xtb.1_Missense_Mutation_p.R744W|ZMYND8_uc002xss.2_Missense_Mutation_p.R724W|ZMYND8_uc010zxz.1_Missense_Mutation_p.R719W|ZMYND8_uc002xtc.1_Missense_Mutation_p.R744W|ZMYND8_uc002xtd.1_Missense_Mutation_p.R719W|ZMYND8_uc002xte.1_Missense_Mutation_p.R724W|ZMYND8_uc010zya.1_Missense_Mutation_p.R724W|ZMYND8_uc002xtf.1_Missense_Mutation_p.R744W|ZMYND8_uc002xtg.2_Missense_Mutation_p.R718W|ZMYND8_uc010ghs.1_Missense_Mutation_p.R718W	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	724							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGACCCTCCCGCCCAGAATGG	0.433												
SULF2	55959	broad.mit.edu	37	20	46301066	46301066	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:46301066G>A	uc002xto.2	-	11	1782	c.1452C>T	c.(1450-1452)GGC>GGT	p.G484G	SULF2_uc002xtr.2_Silent_p.G484G|SULF2_uc002xtq.2_Silent_p.G484G	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	484					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						CTCTGCTGCCGCCCAGCCGCA	0.657												
ARFGEF2	10564	broad.mit.edu	37	20	47582548	47582548	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:47582548A>G	uc002xtx.3	+	8	1199	c.1047A>G	c.(1045-1047)TCA>TCG	p.S349S		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	349					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCTTGTCGTCAGCAGATAATC	0.438												
MOCS3	27304	broad.mit.edu	37	20	49575847	49575847	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:49575847G>A	uc002xvy.1	+	1	485	c.468G>A	c.(466-468)CCG>CCA	p.P156P	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	156					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			skin(2)|ovary(1)	3						AATGCGTGCCGTACACTCAGG	0.652												
NFATC2	4773	broad.mit.edu	37	20	50090678	50090678	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50090678G>A	uc002xwd.2	-	5	1767	c.1547C>T	c.(1546-1548)GCG>GTG	p.A516V	NFATC2_uc002xwc.2_Missense_Mutation_p.A516V|NFATC2_uc010zyv.1_Missense_Mutation_p.A297V|NFATC2_uc010zyw.1_Missense_Mutation_p.A297V|NFATC2_uc010zyx.1_Missense_Mutation_p.A496V|NFATC2_uc010zyy.1_Missense_Mutation_p.A297V|NFATC2_uc010zyz.1_Missense_Mutation_p.A297V|NFATC2_uc002xwe.2_Missense_Mutation_p.A496V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	516	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					CAAGATCCCCGCACAGTCGAT	0.532												
NFATC2	4773	broad.mit.edu	37	20	50139915	50139915	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50139915C>T	uc002xwd.2	-	2	1085	c.865G>A	c.(865-867)GGC>AGC	p.G289S	NFATC2_uc002xwc.2_Missense_Mutation_p.G289S|NFATC2_uc010zyv.1_Missense_Mutation_p.G70S|NFATC2_uc010zyw.1_Missense_Mutation_p.G70S|NFATC2_uc010zyx.1_Missense_Mutation_p.G269S|NFATC2_uc010zyy.1_Missense_Mutation_p.G70S|NFATC2_uc010zyz.1_Missense_Mutation_p.G70S|NFATC2_uc002xwe.2_Missense_Mutation_p.G269S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	289					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					GCCGGGGAGCCGTGGTCCTGG	0.711												
ATP9A	10079	broad.mit.edu	37	20	50290784	50290784	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50290784C>T	uc002xwg.1	-	11	945	c.945G>A	c.(943-945)TCG>TCA	p.S315S	ATP9A_uc010gih.1_Silent_p.S179S|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	315	Helical; (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4						CCATGACCAGCGAGACCACCA	0.542												
SALL4	57167	broad.mit.edu	37	20	50407935	50407935	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50407935G>A	uc002xwh.3	-	2	1188	c.1087C>T	c.(1087-1089)CCA>TCA	p.P363S	SALL4_uc010gii.2_Missense_Mutation_p.P363S|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	363					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						ATGTTCGGTGGCTTCCCCTTC	0.572												
ZFP64	55734	broad.mit.edu	37	20	50715063	50715063	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:50715063G>A	uc002xwk.2	-	6	1176	c.827C>T	c.(826-828)CCG>CTG	p.P276L	ZFP64_uc002xwj.2_Missense_Mutation_p.P57L	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						AGGGGCCTTCGGAGTGTCAGT	0.468												
TSHZ2	128553	broad.mit.edu	37	20	51872628	51872628	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:51872628G>T	uc002xwo.2	+	2	3587	c.2631G>T	c.(2629-2631)CTG>CTT	p.L877L		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	877	Homeobox; atypical.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			TGTCTGATCTGGGCCCACAAG	0.507												
ZNF217	7764	broad.mit.edu	37	20	52198490	52198490	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:52198490C>T	uc002xwq.3	-	1	1147	c.876G>A	c.(874-876)CCG>CCA	p.P292P	ZNF217_uc010gij.1_Silent_p.P284P	NM_006526	NP_006517	O75362	ZN217_HUMAN	zinc finger protein 217	292					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGGTGGTGAACGGATCGAGCT	0.542												
CASS4	57091	broad.mit.edu	37	20	55033646	55033646	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:55033646G>A	uc002xxp.2	+	7	2429	c.2204G>A	c.(2203-2205)CGT>CAT	p.R735H	CASS4_uc002xxr.2_Missense_Mutation_p.R735H|CASS4_uc010zze.1_Missense_Mutation_p.R681H|CASS4_uc010gio.2_Missense_Mutation_p.R298H	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	735					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						GAGATCCTCCGTGGCAGCAGT	0.622												
RBM38	55544	broad.mit.edu	37	20	55982697	55982697	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:55982697A>G	uc010zzj.1	+	4	690	c.515A>G	c.(514-516)TAC>TGC	p.Y172C	RBM38_uc010zzk.1_3'UTR	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	RNA-binding region containing protein 1 isoform	172					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding				0	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			TACATTGAGTACACGCCGGCC	0.677												
PCK1	5105	broad.mit.edu	37	20	56136502	56136502	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:56136502C>T	uc002xyn.3	+	2	198	c.35C>T	c.(34-36)TCG>TTG	p.S12L	PCK1_uc010zzm.1_5'UTR	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	12					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGAACCTCTCGGCCAAAGTT	0.547												
APCDD1L	164284	broad.mit.edu	37	20	57042225	57042225	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:57042225G>A	uc002xze.1	-	3	864	c.678C>T	c.(676-678)ACC>ACT	p.T226T	APCDD1L_uc010zzp.1_Silent_p.T237T	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated	226						integral to membrane				ovary(1)	1	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCGCCGGGTCGGTGTGGATGT	0.731												
ZNF831	128611	broad.mit.edu	37	20	57766653	57766653	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:57766653G>A	uc002yan.2	+	1	579	c.579G>A	c.(577-579)ACG>ACA	p.T193T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	193	C2H2-type 2.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					ACAGGCGGACGCAGACGCACC	0.662												
PHACTR3	116154	broad.mit.edu	37	20	58349514	58349514	+	Silent	SNP	C	C	T	rs142106796	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:58349514C>T	uc002yau.2	+	7	1610	c.1143C>T	c.(1141-1143)GAC>GAT	p.D381D	PHACTR3_uc002yat.2_Silent_p.D378D|PHACTR3_uc010zzw.1_Silent_p.D340D|PHACTR3_uc002yav.2_Silent_p.D340D|PHACTR3_uc002yaw.2_Silent_p.D340D|PHACTR3_uc002yax.2_Silent_p.D270D	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	381						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGTATCAGGACGAGGAGGCGC	0.502												
SYCP2	10388	broad.mit.edu	37	20	58486832	58486832	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:58486832G>T	uc002yaz.2	-	13	1084	c.945C>A	c.(943-945)CTC>CTA	p.L315L	SYCP2_uc010gju.1_Silent_p.L216L	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	315					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)|lung(2)	5	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGTAGAATGAGAGAGTCTGAC	0.279												
CDH4	1002	broad.mit.edu	37	20	60469990	60469990	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60469990G>A	uc002ybn.1	+	8	1089	c.1075G>A	c.(1075-1077)GTT>ATT	p.V359I	CDH4_uc002ybp.1_Missense_Mutation_p.V285I	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	359	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACAGTCATCGTTCAGGCCAC	0.443												
LAMA5	3911	broad.mit.edu	37	20	60885620	60885620	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60885620G>A	uc002ycq.2	-	76	10522	c.10455C>T	c.(10453-10455)GTC>GTT	p.V3485V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3485	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTGAACCCGACGGTCACCT	0.672												
LAMA5	3911	broad.mit.edu	37	20	60887968	60887968	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60887968C>T	uc002ycq.2	-	66	9121	c.9054G>A	c.(9052-9054)CCG>CCA	p.P3018P		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3018	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTCAGGGGCGGTGGGGGCT	0.667												
LAMA5	3911	broad.mit.edu	37	20	60889877	60889877	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60889877T>C	uc002ycq.2	-	60	8241	c.8174A>G	c.(8173-8175)CAG>CGG	p.Q2725R		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2725	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCCGGGCCTGGGCAATGAG	0.672												
CABLES2	81928	broad.mit.edu	37	20	60966136	60966136	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:60966136C>T	uc002ycv.2	-	10	1335	c.1328G>A	c.(1327-1329)CGC>CAC	p.R443H		NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	443					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			pancreas(1)	1	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TATCAGGTCGCGCCTGTTGAA	0.557												
DIDO1	11083	broad.mit.edu	37	20	61542717	61542717	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61542717C>T	uc002ydr.1	-	3	512	c.248G>A	c.(247-249)CGC>CAC	p.R83H	DIDO1_uc002yds.1_Missense_Mutation_p.R83H|DIDO1_uc002ydt.1_Missense_Mutation_p.R83H|DIDO1_uc002ydu.1_Missense_Mutation_p.R83H|DIDO1_uc002ydv.1_Missense_Mutation_p.R83H|DIDO1_uc002ydw.1_Missense_Mutation_p.R83H|DIDO1_uc002ydx.1_Missense_Mutation_p.R83H|DIDO1_uc011aao.1_Missense_Mutation_p.R83H	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	83					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					CCTGCCGCGGCGCCGCGCAAT	0.706												
DIDO1	11083	broad.mit.edu	37	20	61542746	61542746	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61542746G>A	uc002ydr.1	-	3	483	c.219C>T	c.(217-219)CGC>CGT	p.R73R	DIDO1_uc002yds.1_Silent_p.R73R|DIDO1_uc002ydt.1_Silent_p.R73R|DIDO1_uc002ydu.1_Silent_p.R73R|DIDO1_uc002ydv.1_Silent_p.R73R|DIDO1_uc002ydw.1_Silent_p.R73R|DIDO1_uc002ydx.1_Silent_p.R73R|DIDO1_uc011aao.1_Silent_p.R73R	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	73					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)					ACTGCTCCACGCGCTCAGTGC	0.711												
COL20A1	57642	broad.mit.edu	37	20	61937336	61937336	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61937336G>A	uc011aau.1	+	5	541	c.441G>A	c.(439-441)GAG>GAA	p.E147E	COL20A1_uc011aav.1_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	147					cell adhesion	collagen|extracellular space	structural molecule activity			central_nervous_system(1)	1	all_cancers(38;1.39e-10)					CAGACCCTGAGCAGGCTTCTG	0.652												
CHRNA4	1137	broad.mit.edu	37	20	61978175	61978175	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:61978175C>T	uc002yes.2	-	6	1977	c.1799G>A	c.(1798-1800)CGC>CAC	p.R600H	CHRNA4_uc002yet.1_Missense_Mutation_p.R424H|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R529H|CHRNA4_uc002yev.1_Missense_Mutation_p.R424H|CHRNA4_uc010gkf.1_Missense_Mutation_p.R424H	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	600	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GAGGAAGATGCGGTCGATGAC	0.657												
PRIC285	85441	broad.mit.edu	37	20	62197056	62197056	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62197056G>A	uc002yfm.2	-	9	4011	c.3119C>T	c.(3118-3120)GCG>GTG	p.A1040V	PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1040	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTCCTGCCGCACAGGCCCC	0.687												
GMEB2	26205	broad.mit.edu	37	20	62223446	62223446	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62223446A>G	uc002yfp.1	-	8	1360	c.881T>C	c.(880-882)GTG>GCG	p.V294A	GMEB2_uc002yfo.1_Missense_Mutation_p.V216A|GMEB2_uc002yfq.1_Missense_Mutation_p.V294A	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	294					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CACCTTCTTCACCAGGTCCAG	0.602												
SLC2A4RG	56731	broad.mit.edu	37	20	62373333	62373333	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62373333C>T	uc002ygq.2	+	4	558	c.503C>T	c.(502-504)CCG>CTG	p.P168L	SLC2A4RG_uc002ygr.2_Missense_Mutation_p.P63L|SLC2A4RG_uc011abj.1_Missense_Mutation_p.P63L|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	168						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CAGTCCTCTCCGTCCACCCCG	0.677												
ZBTB46	140685	broad.mit.edu	37	20	62378374	62378374	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62378374G>A	uc002ygv.1	-	5	1880	c.1679C>T	c.(1678-1680)GCG>GTG	p.A560V	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGCCAACAGCGCATCCTCAGG	0.711												
ZBTB46	140685	broad.mit.edu	37	20	62421431	62421431	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62421431C>T	uc002ygv.1	-	2	881	c.680G>A	c.(679-681)CGC>CAC	p.R227H	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTCCTTGATGCGCAGAGGCCC	0.577												
UCKL1	54963	broad.mit.edu	37	20	62572555	62572555	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62572555C>T	uc010gkn.2	-	9	973	c.930G>A	c.(928-930)GCG>GCA	p.A310A	UCKL1_uc002yhj.2_5'UTR|UCKL1_uc011abm.1_Silent_p.A295A|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	310					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCGAGGCCAGCGCAGCCCTGG	0.662												
NPBWR2	2832	broad.mit.edu	37	20	62737267	62737267	+	Silent	SNP	G	G	A	rs139194738		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62737267G>A	uc011abt.1	-	1	918	c.918C>T	c.(916-918)TAC>TAT	p.Y306Y		NM_005286	NP_005277	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	306	Helical; Name=7; (Potential).					plasma membrane	opioid receptor activity|protein binding			large_intestine(1)	1	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACGAGTTGGCGTAGCTGAGGC	0.582												
MYT1	4661	broad.mit.edu	37	20	62859258	62859258	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:62859258G>A	uc002yii.2	+	18	2973	c.2609G>A	c.(2608-2610)CGT>CAT	p.R870H	MYT1_uc002yih.2_Missense_Mutation_p.R549H|MYT1_uc002yij.2_Missense_Mutation_p.R529H	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	870					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGCTGCCCTCGTGCAAAGAAA	0.542												
ADAMTS5	11096	broad.mit.edu	37	21	28327176	28327176	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:28327176A>G	uc002ymg.2	-	2	1848	c.1119T>C	c.(1117-1119)CAT>CAC	p.H373H		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	373	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						CACATGAATGATGCCCACATA	0.493												
RNF160	26046	broad.mit.edu	37	21	30330717	30330717	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:30330717T>A	uc002ymr.2	-	14	2889	c.2876A>T	c.(2875-2877)GAT>GTT	p.D959V		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	913							ligase activity|zinc ion binding				0						CCTGTTGATATCCAAAGATGA	0.373												
USP16	10600	broad.mit.edu	37	21	30408598	30408598	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:30408598C>T	uc002ymy.2	+	5	553	c.351C>T	c.(349-351)TAC>TAT	p.Y117Y	USP16_uc002ymx.2_Silent_p.Y117Y|USP16_uc002ymw.2_Silent_p.Y117Y|USP16_uc011acm.1_Silent_p.Y103Y|USP16_uc011acn.1_Intron	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	117	UBP-type.				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4						ACAGGTGTTACGTATGTGATA	0.388												
CRYZL1	9946	broad.mit.edu	37	21	34962202	34962202	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:34962202G>A	uc011adw.1	-	13	1156	c.976C>T	c.(976-978)CTG>TTG	p.L326L	DONSON_uc002ysn.1_Intron|DONSON_uc002ysj.2_5'Flank|DONSON_uc002ysk.2_5'Flank|DONSON_uc002ysl.2_5'Flank|DONSON_uc010gme.2_5'Flank|DONSON_uc002ysm.2_5'UTR	NM_145858	NP_665857	O95825	QORL1_HUMAN	crystallin, zeta-like 1	326					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding				0						GCCTCATACAGTGGAATGGGT	0.363												
DOPEY2	9980	broad.mit.edu	37	21	37605203	37605203	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:37605203C>T	uc002yvg.2	+	15	2531	c.2452C>T	c.(2452-2454)CTG>TTG	p.L818L	DOPEY2_uc011aeb.1_Silent_p.L818L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	818					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						TTCCACTCTGCTGGAAGTGAT	0.488												
DOPEY2	9980	broad.mit.edu	37	21	37605312	37605312	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:37605312C>T	uc002yvg.2	+	15	2640	c.2561C>T	c.(2560-2562)ACG>ATG	p.T854M	DOPEY2_uc011aeb.1_Missense_Mutation_p.T854M	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	854					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2						CAGATGGTGACGGTTCCTCCC	0.393												
BACE2	25825	broad.mit.edu	37	21	42647425	42647425	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:42647425C>T	uc002yyw.2	+	9	1894	c.1431C>T	c.(1429-1431)AGC>AGT	p.S477S	BACE2_uc002yyx.2_Silent_p.S427S|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	477	Helical; (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CGCTCATGAGCGTCTGTGGAG	0.567												
TMPRSS2	7113	broad.mit.edu	37	21	42861455	42861455	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:42861455C>T	uc002yzj.2	-	4	438	c.304G>A	c.(304-306)GCT>ACT	p.A102T	TMPRSS2_uc010gor.2_Missense_Mutation_p.A139T|TMPRSS2_uc010gos.1_Missense_Mutation_p.A102T	NM_005656	NP_005647	O15393	TMPS2_HUMAN	transmembrane protease, serine 2 isoform 2	102	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGTAGGCCAGCGGCCAGCGCA	0.592			T	ERG|ETV1|ETV4|ETV5	prostate 							
PRDM15	63977	broad.mit.edu	37	21	43259870	43259870	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:43259870G>A	uc002yzq.1	-	14	1942	c.1831C>T	c.(1831-1833)CGG>TGG	p.R611W	PRDM15_uc002yzo.2_Missense_Mutation_p.R282W|PRDM15_uc002yzp.2_Missense_Mutation_p.R282W|PRDM15_uc002yzr.1_Missense_Mutation_p.R282W	NM_022115	NP_071398	P57071	PRD15_HUMAN	PR domain containing 15 isoform 1	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GGTTCCCCCCGGGGTGTGTCC	0.562												
CBS	875	broad.mit.edu	37	21	44488638	44488638	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:44488638G>A	uc002zcu.2	-	4	542	c.297C>T	c.(295-297)TTC>TTT	p.F99F	CBS_uc002zcs.1_5'Flank|CBS_uc002zct.2_Silent_p.F99F|CBS_uc002zcw.3_Silent_p.F99F|CBS_uc002zcv.2_Silent_p.F99F	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	99					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTTCAGGCCGAACTTCTTCC	0.443												
PWP2	5822	broad.mit.edu	37	21	45547815	45547815	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45547815C>T	uc002zeb.2	+	18	2233	c.2143C>T	c.(2143-2145)CGC>TGC	p.R715C		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	715	WD 14.					cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTTCCCAGGGCGCTGCTGGGC	0.473												
AIRE	326	broad.mit.edu	37	21	45713741	45713741	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45713741G>A	uc002zei.2	+	11	1475	c.1348G>A	c.(1348-1350)GCC>ACC	p.A450T	AIRE_uc010gpq.2_RNA|AIRE_uc002zej.2_Missense_Mutation_p.A253T|AIRE_uc010gpr.2_Missense_Mutation_p.A253T	NM_000383	NP_000374	O43918	AIRE_HUMAN	autoimmune regulator isoform 1	450	PHD-type 2.			CGDGTDVLRCTHCAAAFHWRCHFPAGTSRPG -> W (in Ref. 3; CAA08759).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			skin(1)	1				Colorectal(79;0.0806)		TACTCACTGCGCCGCTGCCTT	0.652									Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy			
TRPM2	7226	broad.mit.edu	37	21	45815350	45815350	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45815350C>A	uc002zet.1	+	13	2061	c.1848C>A	c.(1846-1848)ACC>ACA	p.T616T	TRPM2_uc002zeu.1_Silent_p.T616T|TRPM2_uc002zew.1_Silent_p.T616T|TRPM2_uc010gpt.1_Silent_p.T616T|TRPM2_uc002zex.1_Silent_p.T402T|TRPM2_uc002zey.1_Silent_p.T129T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	616	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						GCCATGTGACCTTCACCATGG	0.527												
LRRC3	81543	broad.mit.edu	37	21	45876939	45876939	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45876939G>A	uc002zfa.2	+	2	705	c.412G>A	c.(412-414)GCC>ACC	p.A138T		NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	leucine-rich repeat-containing 3 precursor	138	LRR 4.					integral to membrane	protein binding				0		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CAAACTCAGCGCCAAGATACG	0.677												
C21orf29	54084	broad.mit.edu	37	21	45949798	45949798	+	Missense_Mutation	SNP	C	C	T	rs146216896		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45949798C>T	uc002zfe.1	-	5	739	c.673G>A	c.(673-675)GCC>ACC	p.A225T	C21orf29_uc010gpv.1_Missense_Mutation_p.A157T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	chromosome 21 open reading frame 29 precursor	225					cell adhesion	extracellular region	structural molecule activity				0						CTTGGGGTGGCGTCTGAGCCC	0.672												
FTCD	10841	broad.mit.edu	37	21	47574137	47574137	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47574137G>A	uc002zif.2	-	2	208	c.164C>T	c.(163-165)CCG>CTG	p.P55L	FTCD_uc002zig.2_Missense_Mutation_p.P55L|FTCD_uc002zih.2_Missense_Mutation_p.P55L|FTCD_uc010gqf.2_Missense_Mutation_p.P55L|FTCD_uc010gqg.1_5'UTR	NM_006657	NP_006648	O95954	FTCD_HUMAN	formiminotransferase cyclodeaminase	55	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			pancreas(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CACGCACTCCGGCGGCCCCAC	0.662												
LSS	4047	broad.mit.edu	37	21	47611037	47611037	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47611037G>A	uc002zij.2	-	22	2259	c.2180C>T	c.(2179-2181)GCC>GTC	p.A727V	LSS_uc011afv.1_Missense_Mutation_p.A716V|LSS_uc002zil.2_Missense_Mutation_p.A727V|LSS_uc002zik.2_Missense_Mutation_p.A647V	NM_001001438	NP_001001438	P48449	ERG7_HUMAN	lanosterol synthase isoform 1	727					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity				0	Breast(49;0.214)					GCCAGCAAGGGCTCTCTCAGG	0.627												
MCM3AP	8888	broad.mit.edu	37	21	47697552	47697552	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47697552C>T	uc002zir.1	-	5	1783	c.1747G>A	c.(1747-1749)GAG>AAG	p.E583K		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	583					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCGAGGCCCTCGGAGCCCTCG	0.542												
C21orf58	54058	broad.mit.edu	37	21	47731429	47731429	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47731429A>G	uc002zjf.2	-	7	1796	c.662T>C	c.(661-663)ATA>ACA	p.I221T	C21orf58_uc002ziz.2_Missense_Mutation_p.I138T|C21orf58_uc002zja.2_Missense_Mutation_p.I115T|C21orf58_uc011afw.1_Missense_Mutation_p.I138T|C21orf58_uc002zjc.2_Missense_Mutation_p.I115T|C21orf58_uc011afx.1_Missense_Mutation_p.I115T|C21orf58_uc010gqj.1_RNA	NM_058180	NP_478060	P58505	CU058_HUMAN	hypothetical protein LOC54058	221										pancreas(1)	1	Breast(49;0.112)			Colorectal(79;0.239)		AATCTGTGCTATGAGTGGCTG	0.493												
PCNT	5116	broad.mit.edu	37	21	47817218	47817218	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47817218C>T	uc002zji.3	+	22	4363	c.4256C>T	c.(4255-4257)TCG>TTG	p.S1419L	PCNT_uc002zjj.2_Missense_Mutation_p.S1301L	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1419	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AAAGAACAGTCGGAGACCAGG	0.567												
PCNT	5116	broad.mit.edu	37	21	47831466	47831466	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:47831466G>A	uc002zji.3	+	28	5586	c.5479G>A	c.(5479-5481)GCA>ACA	p.A1827T	PCNT_uc002zjj.2_Missense_Mutation_p.A1709T	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1827	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					CCTCCAGGGCGCAGAGGAGGC	0.687												
XKR3	150165	broad.mit.edu	37	22	17280908	17280908	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:17280908C>A	uc002zlv.2	-	3	440	c.342G>T	c.(340-342)TTG>TTT	p.L114F	XKR3_uc011agf.1_Missense_Mutation_p.L114F	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	X Kell blood group precursor-related family,	114	Helical; (Potential).					integral to membrane|plasma membrane				large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TAATGGTGTGCAAACACCTGT	0.348												
CECR2	27443	broad.mit.edu	37	22	18022564	18022564	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:18022564G>A	uc010gqw.1	+	15	2792	c.2666G>A	c.(2665-2667)CGT>CAT	p.R889H	CECR2_uc010gqv.1_Missense_Mutation_p.R748H|CECR2_uc002zml.2_Missense_Mutation_p.R748H	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	931					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		GCACACCCCCGTTTACCTGGC	0.632												
MICAL3	57553	broad.mit.edu	37	22	18371904	18371904	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:18371904A>G	uc002zng.3	-	13	2140	c.1787T>C	c.(1786-1788)ATG>ACG	p.M596T	MICAL3_uc011agl.1_Missense_Mutation_p.M596T|MICAL3_uc002znh.2_Missense_Mutation_p.M596T|MICAL3_uc002znj.1_Missense_Mutation_p.M296T|MICAL3_uc002znk.1_Missense_Mutation_p.M596T|MICAL3_uc002znl.1_Missense_Mutation_p.M229T|MICAL3_uc002znm.2_Missense_Mutation_p.M97T|MICAL3_uc010grf.2_Missense_Mutation_p.M596T	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin	596	CH.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTGCCTGTCATGATGGGAGA	0.463											OREG0026284	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GSC2	2928	broad.mit.edu	37	22	19137315	19137315	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19137315C>T	uc011ags.1	-	2	374	c.374G>A	c.(373-375)CGC>CAC	p.R125H		NM_005315	NP_005306	O15499	GSC2_HUMAN	goosecoid homeobox 2	125					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Colorectal(54;0.0993)					GCGCCTCGTGCGCCGCTGCGA	0.716												
HIRA	7290	broad.mit.edu	37	22	19396041	19396041	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19396041A>T	uc002zpf.1	-	3	396	c.176T>A	c.(175-177)ATT>AAT	p.I59N	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.I59N|HIRA_uc010gro.1_Missense_Mutation_p.I15N|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	59					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					CATCTTGGGAATATTTTCATC	0.488												
CLDN5	7122	broad.mit.edu	37	22	19511314	19511314	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19511314C>T	uc002zpu.2	-	2	935	c.720G>A	c.(718-720)TCG>TCA	p.S240S	CLDN5_uc010grr.2_Silent_p.S240S	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	155	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CGTACTTCTGCGACACGGGCA	0.657												
CLDN5	7122	broad.mit.edu	37	22	19511395	19511395	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19511395G>A	uc002zpu.2	-	2	854	c.639C>T	c.(637-639)TGC>TGT	p.C213C	CLDN5_uc010grr.2_Silent_p.C213C	NM_003277	NP_003268	O00501	CLD5_HUMAN	claudin 5	128	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0	Colorectal(54;0.0993)					CCAGCAGCCCGCAAAACAGGT	0.682												
ARVCF	421	broad.mit.edu	37	22	19961234	19961234	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:19961234T>G	uc002zqz.2	-	13	2442	c.2171A>C	c.(2170-2172)AAG>ACG	p.K724T	ARVCF_uc002zqy.2_Missense_Mutation_p.K240T	NM_001670	NP_001661	O00192	ARVC_HUMAN	armadillo repeat protein	724	ARM 8.				cell adhesion|multicellular organismal development		protein binding			liver(1)	1	Colorectal(54;0.0993)					GCGCACCACCTTGTCGGTCTC	0.672												
DGCR8	54487	broad.mit.edu	37	22	20079466	20079466	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20079466C>T	uc002zri.2	+	7	1929	c.1579C>T	c.(1579-1581)CGC>TGC	p.R527C	DGCR8_uc010grz.2_Missense_Mutation_p.R527C|DGCR8_uc002zrj.2_Missense_Mutation_p.R170C	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	DiGeorge syndrome critical region gene 8	527	Necessary for interaction with DROSHA.|Necessary for heme-binding and pri-miRNA processing.|DRBM 1.				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding				0	Colorectal(54;0.0993)					CCTCAAGGTCCGCCCTGTCTA	0.478												
ZDHHC8	29801	broad.mit.edu	37	22	20127357	20127357	+	Missense_Mutation	SNP	G	G	A	rs146759935		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20127357G>A	uc002zrq.2	+	4	605	c.499G>A	c.(499-501)GGC>AGC	p.G167S	ZDHHC8_uc002zrr.1_Missense_Mutation_p.G167S|ZDHHC8_uc010gsa.2_Intron	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	167	Helical; (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CGTGGCCTTCGGCCTGGTCTA	0.607												
ZDHHC8	29801	broad.mit.edu	37	22	20131072	20131072	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20131072G>A	uc002zrq.2	+	10	2025	c.1919G>A	c.(1918-1920)CGG>CAG	p.R640Q	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R640Q|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R446Q	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	640	Cytoplasmic (Potential).					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CGTGCACCGCGGACGTCGTCC	0.711												
ZNF74	7625	broad.mit.edu	37	22	20760633	20760633	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20760633C>T	uc010gsm.2	+	6	1522	c.1310C>T	c.(1309-1311)ACG>ATG	p.T437M	ZNF74_uc002zsg.2_Missense_Mutation_p.T366M|ZNF74_uc002zsh.2_Missense_Mutation_p.T437M|ZNF74_uc002zsi.2_Missense_Mutation_p.T366M|ZNF74_uc010gsn.2_Missense_Mutation_p.T366M	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	zinc finger protein 74	437	C2H2-type 7.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CACCAGAGGACGCACACGGGC	0.652												
KLHL22	84861	broad.mit.edu	37	22	20812182	20812182	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:20812182G>A	uc002zsl.1	-	5	1327	c.1218C>T	c.(1216-1218)GGC>GGT	p.G406G	KLHL22_uc011ahr.1_Silent_p.G263G|KLHL22_uc002zsm.1_Silent_p.G406G	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	406	Kelch 3.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GGTAGTCACGGCCCGCCACAG	0.612												
LZTR1	8216	broad.mit.edu	37	22	21348009	21348009	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:21348009G>A	uc002zto.2	+	12	1422	c.1319G>A	c.(1318-1320)CGC>CAC	p.R440H	LZTR1_uc002ztn.2_Missense_Mutation_p.R399H|LZTR1_uc011ahy.1_Missense_Mutation_p.R421H|LZTR1_uc010gsr.1_Missense_Mutation_p.R311H|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	440	Kelch 6.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGAGAGCCGCCAGTTCTGC	0.622												
LZTR1	8216	broad.mit.edu	37	22	21349285	21349285	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:21349285C>T	uc002zto.2	+	16	2015	c.1912C>T	c.(1912-1914)CGC>TGC	p.R638C	LZTR1_uc002ztn.2_Missense_Mutation_p.R597C|LZTR1_uc011ahy.1_Missense_Mutation_p.R619C|LZTR1_uc002ztp.2_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	638					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCGCCCCCTCGCACTCCCTT	0.612												
PPM1F	9647	broad.mit.edu	37	22	22285542	22285542	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:22285542T>G	uc002zvp.1	-	6	983	c.869A>C	c.(868-870)GAG>GCG	p.E290A	PPM1F_uc011aik.1_Missense_Mutation_p.E186A|PPM1F_uc002zvq.2_Missense_Mutation_p.E290A	NM_014634	NP_055449	P49593	PPM1F_HUMAN	protein phosphatase 1F	290					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			ovary(2)|large_intestine(1)|breast(1)|kidney(1)	5	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		TCTGTGTGGCTCCATCAGCTT	0.627												
RAB36	9609	broad.mit.edu	37	22	23494678	23494678	+	Silent	SNP	C	C	T	rs114023206	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:23494678C>T	uc002zwv.1	+	4	430	c.390C>T	c.(388-390)GGC>GGT	p.G130G	RAB36_uc010gtw.1_Intron	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	130	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TGGTGGTTGGCGATCTCTACG	0.582												
RAB36	9609	broad.mit.edu	37	22	23495284	23495284	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:23495284C>T	uc002zwv.1	+	5	530	c.490C>T	c.(490-492)CGC>TGC	p.R164C	RAB36_uc010gtw.1_Missense_Mutation_p.R142C	NM_004914	NP_004905	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	164					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			ovary(1)|central_nervous_system(1)	2	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TGAAATTGAGCGCTTTGAGAT	0.507												
SMARCB1	6598	broad.mit.edu	37	22	24176339	24176339	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:24176339G>A	uc002zyb.2	+	9	1337	c.1130G>A	c.(1129-1131)CGT>CAT	p.R377H	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.R368H|SMARCB1_uc002zyd.2_Missense_Mutation_p.R386H	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	377					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.R377H(4)|p.?(2)|p.R377fs*10(1)|p.L266_*386del(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CGGATGAGGCGTCTTGCCAAC	0.647			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
CABIN1	23523	broad.mit.edu	37	22	24487549	24487549	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:24487549C>T	uc002zzi.1	+	24	3665	c.3538C>T	c.(3538-3540)CGC>TGC	p.R1180C	CABIN1_uc002zzj.1_Missense_Mutation_p.R1130C|CABIN1_uc002zzl.1_Missense_Mutation_p.R1180C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1180					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.D1181fs*19(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						GGAGGGCCGGCGCGACAGCAT	0.572												
CYTSA	23384	broad.mit.edu	37	22	24720240	24720240	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:24720240A>G	uc002zzw.2	+	6	2298	c.1991A>G	c.(1990-1992)GAT>GGT	p.D664G	CYTSA_uc002zzv.3_Missense_Mutation_p.D664G|CYTSA_uc011ajq.1_Missense_Mutation_p.D664G	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	cytospin A	664	Potential.				cell cycle|cell division						0						CAAATTGAAGATTTGAATATG	0.338												
MN1	4330	broad.mit.edu	37	22	28194245	28194245	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:28194245C>T	uc003adj.2	-	1	3242	c.2287G>A	c.(2287-2289)GTG>ATG	p.V763M		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	763							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GGCGAGTTCACGCCTGGACCG	0.756			T	ETV6	AML|meningioma							
MN1	4330	broad.mit.edu	37	22	28195048	28195048	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:28195048G>A	uc003adj.2	-	1	2439	c.1484C>T	c.(1483-1485)CCC>CTC	p.P495L		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	495							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GAACTCGCCGGGTAGGCCTGG	0.632			T	ETV6	AML|meningioma							
KREMEN1	83999	broad.mit.edu	37	22	29533564	29533564	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:29533564G>A	uc011akm.1	+	6	879	c.866G>A	c.(865-867)CGC>CAC	p.R289H	KREMEN1_uc003ael.2_Missense_Mutation_p.R289H|KREMEN1_uc011akn.1_Missense_Mutation_p.R172H	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	287	Extracellular (Potential).|CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5						GGGAGGAGCCGCCCACCTCTG	0.542												
CABP7	164633	broad.mit.edu	37	22	30116482	30116482	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:30116482G>A	uc003agl.2	+	1	139	c.69G>A	c.(67-69)TCG>TCA	p.S23S		NM_182527	NP_872333	Q86V35	CABP7_HUMAN	calcium binding protein 7	23	Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			ACCTGCTGTCGGAGCAGCGCC	0.612												
MTMR3	8897	broad.mit.edu	37	22	30405050	30405050	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:30405050C>T	uc003agv.3	+	12	1381	c.1053C>T	c.(1051-1053)AAC>AAT	p.N351N	MTMR3_uc003agu.3_Silent_p.N351N|MTMR3_uc003agw.3_Silent_p.N351N	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	351	Myotubularin phosphatase.|Substrate binding (By similarity).				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGATGGCAAACATTCATTCTA	0.438												
INPP5J	27124	broad.mit.edu	37	22	31521988	31521988	+	Silent	SNP	C	C	T	rs141054135	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:31521988C>T	uc003aju.3	+	2	1355	c.1263C>T	c.(1261-1263)CCC>CCT	p.P421P	INPP5J_uc010gwf.2_Silent_p.P421P|INPP5J_uc003ajv.3_Silent_p.P54P|INPP5J_uc003ajs.3_Silent_p.P54P|INPP5J_uc011alk.1_Silent_p.P354P|INPP5J_uc010gwg.2_Intron|INPP5J_uc003ajw.2_Intron|INPP5J_uc003ajt.3_Intron|INPP5J_uc003ajx.2_5'Flank|INPP5J_uc003ajy.2_5'Flank|INPP5J_uc003ajz.2_5'Flank	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	phosphatidylinositol (4,5) bisphosphate	421						cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			skin(1)	1						AGAGCGACCCCGGCTTCCGGT	0.607												
EIF4ENIF1	56478	broad.mit.edu	37	22	31859098	31859098	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:31859098G>A	uc003akz.1	-	6	771	c.607C>T	c.(607-609)CGT>TGT	p.R203C	EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R203C|EIF4ENIF1_uc003alb.1_Intron	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E	203	Arg-rich.|Nuclear localization signal.					nucleus	protein binding|protein transporter activity			ovary(1)	1						CCAAAGACACGCTTACTATCT	0.403												
DEPDC5	9681	broad.mit.edu	37	22	32275660	32275660	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:32275660C>T	uc003als.2	+	37	4004	c.3862C>T	c.(3862-3864)CGG>TGG	p.R1288W	DEPDC5_uc011als.1_Missense_Mutation_p.R1219W|DEPDC5_uc011alu.1_Missense_Mutation_p.R1319W|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R1310W|DEPDC5_uc003alu.2_Missense_Mutation_p.R737W|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.R586W|DEPDC5_uc011alx.1_Missense_Mutation_p.R136W|DEPDC5_uc010gwk.2_Missense_Mutation_p.R314W|DEPDC5_uc011aly.1_Missense_Mutation_p.R136W	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1288					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						GCTGCCTAGCCGGCCAGCCTC	0.577												
FBXO7	25793	broad.mit.edu	37	22	32894316	32894316	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:32894316T>C	uc003amq.2	+	9	1651	c.1368T>C	c.(1366-1368)TAT>TAC	p.Y456Y	FBXO7_uc003amr.2_Silent_p.Y342Y|FBXO7_uc003ams.2_Silent_p.Y300Y|FBXO7_uc003amt.2_Silent_p.Y377Y|FBXO7_uc003amu.2_Silent_p.Y342Y|FBXO7_uc003amv.2_Silent_p.Y155Y	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	F-box only protein 7 isoform 1	456					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(1)	1						CACTTCCCTATGTTGGAGACC	0.542												
LARGE	9215	broad.mit.edu	37	22	33712123	33712123	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:33712123G>A	uc003and.3	-	12	1978	c.1399C>T	c.(1399-1401)CCT>TCT	p.P467S	LARGE_uc011amd.1_Missense_Mutation_p.P266S|LARGE_uc003ane.3_Missense_Mutation_p.P467S|LARGE_uc010gwp.2_Missense_Mutation_p.P415S|LARGE_uc011ame.1_Missense_Mutation_p.P399S|LARGE_uc011amf.1_Missense_Mutation_p.P467S|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	467	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)				TCTGCTGCAGGCTCATACTCG	0.617												
TOM1	10043	broad.mit.edu	37	22	35730403	35730403	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:35730403G>A	uc003ann.2	+	11	1235	c.1110G>A	c.(1108-1110)GCG>GCA	p.A370A	TOM1_uc011ami.1_Silent_p.A337A|TOM1_uc011amj.1_Silent_p.A213A|TOM1_uc003ans.2_Silent_p.A213A|TOM1_uc011amk.1_Silent_p.A332A|TOM1_uc003anp.2_Silent_p.A370A|TOM1_uc011aml.1_Silent_p.A325A|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.A364A|TOM1_uc003anr.2_Silent_p.A213A	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	370					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						ACATGTTTGCGCTGACACGGG	0.622												
HMOX1	3162	broad.mit.edu	37	22	35782832	35782832	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:35782832G>A	uc003ant.1	+	3	379	c.299G>A	c.(298-300)CGC>CAC	p.R100H		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	100					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	TACGGGCCCCGCTGGCAGGAG	0.667												
APOL4	80832	broad.mit.edu	37	22	36587367	36587367	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:36587367A>G	uc003aox.2	-	6	1037	c.812T>C	c.(811-813)GTT>GCT	p.V271A	APOL4_uc003aow.2_Missense_Mutation_p.V268A|APOL4_uc010gww.2_Missense_Mutation_p.V113A	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	apolipoprotein L4 isoform 2 precursor	271					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding				0						TGTCTCAACAACATTTATAGG	0.498												
MYH9	4627	broad.mit.edu	37	22	36714268	36714268	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:36714268G>A	uc003apg.2	-	11	1442	c.1211C>T	c.(1210-1212)GCG>GTG	p.A404V	MYH9_uc003aph.1_Missense_Mutation_p.A268V	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	404	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						TTTAGTCTGCGCCTTCTGGAC	0.582			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
PVALB	5816	broad.mit.edu	37	22	37209766	37209766	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:37209766T>G	uc010gwz.2	-	3	258	c.228A>C	c.(226-228)AGA>AGC	p.R76S	PVALB_uc003apx.2_Missense_Mutation_p.R76S	NM_002854	NP_002845	P20472	PRVA_HUMAN	parvalbumin	76							calcium ion binding			skin(1)	1						CAGACAGGTCTCTGGCATCTG	0.562												
RAC2	5880	broad.mit.edu	37	22	37622790	37622790	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:37622790C>T	uc003arc.2	-	6	619	c.502G>A	c.(502-504)GTG>ATG	p.V168M		NM_002872	NP_002863	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2	168					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|central_nervous_system(1)|skin(1)	4						TCGTCGAACACGGTTTTCAGG	0.637												
ELFN2	114794	broad.mit.edu	37	22	37769277	37769277	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:37769277C>T	uc003asq.3	-	3	3084	c.2298G>A	c.(2296-2298)ACG>ACA	p.T766T		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	766	Cytoplasmic (Potential).					cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					AGATCTTGTGCGTGCTCTCGG	0.632												
SOX10	6663	broad.mit.edu	37	22	38379399	38379399	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:38379399G>A	uc003aun.1	-	2	671	c.393C>T	c.(391-393)AAC>AAT	p.N131N	POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Silent_p.N131N|SOX10_uc010gxj.2_Silent_p.N131N|uc003aup.2_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	131	HMG box.					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity				0	Melanoma(58;0.045)					TGAGCTCAGCGTTGTGCAGGT	0.667												
APOBEC3F	200316	broad.mit.edu	37	22	39441441	39441441	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:39441441T>C	uc003aww.2	+	4	753	c.460T>C	c.(460-462)TAC>CAC	p.Y154H	APOBEC3F_uc011aog.1_Missense_Mutation_p.Y154H	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding				0	Melanoma(58;0.04)					AGAATTTGCATACTGCTGGGA	0.532												
CACNA1I	8911	broad.mit.edu	37	22	40080308	40080308	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40080308A>G	uc003ayc.2	+	36	5832	c.5832A>G	c.(5830-5832)GCA>GCG	p.A1944A	CACNA1I_uc003ayd.2_Silent_p.A1909A|CACNA1I_uc003aye.2_Silent_p.A1859A|CACNA1I_uc003ayf.2_Silent_p.A1824A	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	1944	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCCCAGCAGCACCCCCAAGTC	0.632												
FAM83F	113828	broad.mit.edu	37	22	40417817	40417817	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40417817G>A	uc003ayk.1	+	4	1397	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	hypothetical protein LOC113828	435										breast(1)	1						GGCCGCCCCCGCCAGGCGCTT	0.662												
SGSM3	27352	broad.mit.edu	37	22	40803530	40803530	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40803530C>T	uc003ayu.1	+	13	1691	c.1482C>T	c.(1480-1482)CAC>CAT	p.H494H	SGSM3_uc011aos.1_Silent_p.H427H|SGSM3_uc011aot.1_Silent_p.H431H|SGSM3_uc010gyd.1_Silent_p.H565H	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	494	SH3.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						TTGAGCGGCACGACGACGACG	0.652												
MKL1	57591	broad.mit.edu	37	22	40815316	40815316	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:40815316G>A	uc003ayv.1	-	9	1333	c.1126C>T	c.(1126-1128)CGC>TGC	p.R376C	MKL1_uc003ayw.1_Missense_Mutation_p.R376C|MKL1_uc010gye.1_Missense_Mutation_p.R376C|MKL1_uc010gyf.1_Missense_Mutation_p.R326C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	376	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						GCTCGAAGGCGCTCAATCAGC	0.607			T	RBM15	acute megakaryocytic leukemia							
TCF20	6942	broad.mit.edu	37	22	42606614	42606614	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:42606614T>C	uc003bcj.1	-	1	4832	c.4698A>G	c.(4696-4698)ATA>ATG	p.I1566M	TCF20_uc003bck.1_Missense_Mutation_p.I1566M|TCF20_uc003bnt.2_Missense_Mutation_p.I1566M	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	1566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5						AACCTTCTGGTATCTGTGGGG	0.532												
SCUBE1	80274	broad.mit.edu	37	22	43610139	43610139	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:43610139G>A	uc003bdt.1	-	16	2098	c.2010C>T	c.(2008-2010)GAC>GAT	p.D670D		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	670					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	5		all_neural(38;0.0414)|Ovarian(80;0.07)				GACCAAGCCCGTCGCTGCTGG	0.652												
SAMM50	25813	broad.mit.edu	37	22	44386201	44386201	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:44386201G>A	uc003bej.2	+	14	1476	c.1279G>A	c.(1279-1281)GGG>AGG	p.G427R	SAMM50_uc011aqd.1_Missense_Mutation_p.G217R|SAMM50_uc003bek.2_Missense_Mutation_p.G232R	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	427					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTGGTCGTACGGGGCCGGGAT	0.562												
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45130968	45130968	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:45130968A>G	uc003bfd.2	+	7	889	c.617A>G	c.(616-618)AAG>AGG	p.K206R	PRR5_uc003bew.1_Missense_Mutation_p.K197R|PRR5_uc003bex.1_Missense_Mutation_p.K111R|PRR5_uc010gzt.1_Missense_Mutation_p.K229R|PRR5_uc010gzu.1_Missense_Mutation_p.K170R|PRR5_uc003bey.1_Missense_Mutation_p.K197R|PRR5_uc003bez.1_Missense_Mutation_p.K111R|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.K99R|PRR5_uc003bfb.1_Missense_Mutation_p.K206R|PRR5_uc003bfe.1_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.K105R	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						CTGGTCCAGAAGGTGGTGTCG	0.667												
FAM118A	55007	broad.mit.edu	37	22	45726516	45726516	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:45726516C>T	uc003bfz.3	+	6	1171	c.555C>T	c.(553-555)TAC>TAT	p.Y185Y	FAM118A_uc003bga.3_Silent_p.Y185Y|FAM118A_uc011aqr.1_Silent_p.Y3Y	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	185						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ACATGAAGTACGGCGTCCTCC	0.502												
WNT7B	7477	broad.mit.edu	37	22	46319046	46319046	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:46319046C>T	uc003bgo.2	-	4	1114	c.740G>A	c.(739-741)CGG>CAG	p.R247Q	WNT7B_uc010haa.2_Missense_Mutation_p.R251Q	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	247					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGGCTGCCGCAGACGGCT	0.622												
CELSR1	9620	broad.mit.edu	37	22	46786376	46786376	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:46786376C>T	uc003bhw.1	-	17	6258	c.6258G>A	c.(6256-6258)GCG>GCA	p.A2086A	CELSR1_uc011arc.1_Silent_p.A407A	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2086	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTGTCGGACCGCATTTCCTG	0.532											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TTLL8	164714	broad.mit.edu	37	22	50471777	50471777	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50471777G>A	uc011ark.1	-	10	1137	c.1137C>T	c.(1135-1137)ATC>ATT	p.I379I		NM_001080447	NP_001073916			tubulin tyrosine ligase-like family, member 8											ovary(2)	2		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCGGCGTCTCGATGTACTTCT	0.557												
TUBGCP6	85378	broad.mit.edu	37	22	50682250	50682250	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50682250C>T	uc003bkb.1	-	1	1151	c.639G>A	c.(637-639)TCG>TCA	p.S213S	TUBGCP6_uc010har.1_Silent_p.S213S|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.S213S	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	213					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCCCGAAGAGCGAGACCCGGG	0.622												
PLXNB2	23654	broad.mit.edu	37	22	50718980	50718980	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50718980C>T	uc003bkv.3	-	25	4219	c.4113G>A	c.(4111-4113)ACG>ACA	p.T1371T	PLXNB2_uc003bkt.1_Silent_p.T163T|PLXNB2_uc003bku.1_Silent_p.T356T	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1371	Cytoplasmic (Potential).				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGAAGAGCGTGTGCATGA	0.527												
SAPS2	9701	broad.mit.edu	37	22	50873504	50873504	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50873504A>G	uc003blb.1	+	14	1932	c.1510A>G	c.(1510-1512)ATC>GTC	p.I504V	SAPS2_uc003bky.1_Missense_Mutation_p.I504V|SAPS2_uc003bkz.1_Missense_Mutation_p.I504V|SAPS2_uc003blc.2_Missense_Mutation_p.I504V|SAPS2_uc003bla.1_Missense_Mutation_p.I505V|SAPS2_uc003bld.1_Missense_Mutation_p.I63V	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	504						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.222)		CAGCGAGGTCATCCGAGGTGA	0.667												
NCAPH2	29781	broad.mit.edu	37	22	50960987	50960987	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:50960987C>T	uc003blr.3	+	16	1486	c.1364C>T	c.(1363-1365)GCC>GTC	p.A455V	NCAPH2_uc003blv.2_Missense_Mutation_p.A455V|NCAPH2_uc010hbb.2_Intron|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.A456V|NCAPH2_uc003bly.3_RNA	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN	kleisin beta isoform 2	455					chromosome condensation	chromosome|nucleus				ovary(1)|skin(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCCAGGGAAGCCGCTGACCTT	0.647												
LHFPL4	375323	broad.mit.edu	37	3	9547708	9547708	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9547708C>T	uc003bry.2	-	3	872	c.586G>A	c.(586-588)GTG>ATG	p.V196M		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	196	Helical; (Potential).					integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					TTGCCCAGCACGAAGGCGAGG	0.647												
LHFPL4	375323	broad.mit.edu	37	3	9594083	9594083	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9594083G>A	uc003bry.2	-	2	567	c.281C>T	c.(280-282)GCG>GTG	p.A94V		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	94						integral to membrane				ovary(2)|skin(1)	3	Medulloblastoma(99;0.227)					GAAGGCGGCCGCCTTGAAGGC	0.622												
MTMR14	64419	broad.mit.edu	37	3	9710417	9710417	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9710417G>A	uc003brz.2	+	4	556	c.432G>A	c.(430-432)TCG>TCA	p.S144S	MTMR14_uc003bsa.2_Silent_p.S144S|MTMR14_uc003bsb.2_Silent_p.S144S|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron|MTMR14_uc003bsc.2_RNA	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	144						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					TTTGCAGGTCGGCCACACTGG	0.478												
OGG1	4968	broad.mit.edu	37	3	9807580	9807580	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9807580G>A	uc003bsm.2	+	7	1379	c.1036G>A	c.(1036-1038)GGG>AGG	p.G346R	OGG1_uc003bsk.2_3'UTR|OGG1_uc003bsl.2_3'UTR|OGG1_uc003bsn.2_Missense_Mutation_p.G279R|OGG1_uc003bso.2_3'UTR|CAMK1_uc003bst.2_Intron|CAMK1_uc003bsu.2_Intron	NM_016821	NP_058214	O15527	OGG1_HUMAN	8-oxoguanine DNA-glycosylase 1 isoform 2a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding				0	Medulloblastoma(99;0.227)					CCCCCCTATCGGGAGAGGGGA	0.582								BER_DNA_glycosylases				
TADA3	10474	broad.mit.edu	37	3	9822135	9822135	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:9822135C>T	uc003bsx.1	-	9	1753	c.1205G>A	c.(1204-1206)CGG>CAG	p.R402Q	TADA3_uc010hcn.1_Missense_Mutation_p.R402Q|TADA3_uc003bsw.1_Missense_Mutation_p.R231Q	NM_006354	NP_006345	O75528	TADA3_HUMAN	transcriptional adaptor 3 isoform a	402	Potential.				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity				0						CTTCTTCTGCCGGGCAGCCAT	0.602												
ATP2B2	491	broad.mit.edu	37	3	10387187	10387187	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:10387187C>T	uc003bvt.2	-	18	3023	c.2584G>A	c.(2584-2586)GTC>ATC	p.V862I	ATP2B2_uc003bvv.2_Missense_Mutation_p.V817I|ATP2B2_uc003bvw.2_Missense_Mutation_p.V817I|ATP2B2_uc010hdo.2_Missense_Mutation_p.V567I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	862	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						ACTGCCTTGACGATGCTGCTG	0.577												
IQSEC1	9922	broad.mit.edu	37	3	12978054	12978054	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:12978054G>A	uc003bxt.2	-	3	513	c.504C>T	c.(502-504)CGC>CGT	p.R168R	IQSEC1_uc003bxu.3_Silent_p.R46R|IQSEC1_uc011auw.1_Silent_p.R154R	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	168					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						GCACAATCCGGCGTGACATGC	0.572												
NUP210	23225	broad.mit.edu	37	3	13363234	13363234	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:13363234T>C	uc003bxv.1	-	36	5100	c.5017A>G	c.(5017-5019)AGC>GGC	p.S1673G		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1673	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					AAGTGGCTGCTGGAGAGGGAG	0.582												
NUP210	23225	broad.mit.edu	37	3	13367348	13367348	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:13367348C>T	uc003bxv.1	-	33	4674	c.4591G>A	c.(4591-4593)GGA>AGA	p.G1531R		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	nucleoporin 210 precursor	1531	Lumenal (Probable).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)					GTCACGGATCCCACGGCCCGG	0.632												
HDAC11	79885	broad.mit.edu	37	3	13538284	13538284	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:13538284C>A	uc003bxy.2	+	4	434	c.301C>A	c.(301-303)CTC>ATC	p.L101I	HDAC11_uc010heb.2_Missense_Mutation_p.L73I|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Missense_Mutation_p.L73I|HDAC11_uc011auy.1_Intron	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	histone deacetylase 11 isoform 1	101	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			ovary(2)	2						CGTTATCTTCCTCCCCAACTT	0.602											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C3orf19	51244	broad.mit.edu	37	3	14709017	14709017	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:14709017C>T	uc003byw.2	+	8	902	c.811C>T	c.(811-813)CGT>TGT	p.R271C	C3orf19_uc010hej.2_Intron	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	271	Potential.										0						AGAGATGCTGCGTGAACAGGT	0.438												
GALNTL2	117248	broad.mit.edu	37	3	16254232	16254232	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:16254232T>G	uc003car.3	+	6	1829	c.1354T>G	c.(1354-1356)TTC>GTC	p.F452V	GALNTL2_uc003caq.3_Missense_Mutation_p.F185V	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	452	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1						CAAAGAAACCTTCTACAAGCA	0.572												
DCLK3	85443	broad.mit.edu	37	3	36756949	36756949	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:36756949T>C	uc003cgi.2	-	5	2308	c.1817A>G	c.(1816-1818)CAG>CGG	p.Q606R		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	606	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						CTGAAGAACCTGATGAGCTGT	0.537												
SCN10A	6336	broad.mit.edu	37	3	38748813	38748813	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:38748813T>G	uc003ciq.2	-	25	4343	c.4343A>C	c.(4342-4344)AAG>ACG	p.K1448T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1448					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAGCCCAACTTCTTCATGGC	0.532												
SLC25A38	54977	broad.mit.edu	37	3	39431957	39431957	+	Missense_Mutation	SNP	C	C	T	rs147819123		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:39431957C>T	uc003cjo.2	+	3	636	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	79	Solcar 1.				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAGGTGGTTCGCACGGAGAG	0.473												
CCDC13	152206	broad.mit.edu	37	3	42777361	42777361	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:42777361C>T	uc003cly.3	-	10	1293	c.1209G>A	c.(1207-1209)CTG>CTA	p.L403L		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	403	Potential.									ovary(1)	1						TCTCCTCCTGCAGACTCAGGC	0.642												
KIAA1143	57456	broad.mit.edu	37	3	44803061	44803061	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:44803061G>A	uc011bac.1	-	1	113	c.34C>T	c.(34-36)CCA>TCA	p.P12S	KIF15_uc003cnx.3_5'Flank|KIF15_uc010hiq.2_5'Flank	NM_020696	NP_065747	Q96AT1	K1143_HUMAN	hypothetical protein LOC57456	12											0				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		GGCTCGGCTGGCCGCACGTAC	0.597												
LIMD1	8994	broad.mit.edu	37	3	45636836	45636836	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:45636836G>A	uc003coq.2	+	1	514	c.465G>A	c.(463-465)GCG>GCA	p.A155A		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	155					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGAGCCTGGCGACTTCTGAGA	0.602												
SACM1L	22908	broad.mit.edu	37	3	45785048	45785048	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:45785048G>A	uc003cos.2	+	20	1855	c.1651G>A	c.(1651-1653)GCC>ACC	p.A551T	SACM1L_uc011bag.1_Missense_Mutation_p.A448T|SACM1L_uc011bah.1_Missense_Mutation_p.A485T|SACM1L_uc003cot.2_Missense_Mutation_p.A194T	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	suppressor of actin 1	551	Helical; (Potential).					Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		AGAAACACTGGCCTATGTGCT	0.393												
FYCO1	79443	broad.mit.edu	37	3	46009504	46009504	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:46009504G>A	uc003cpb.3	-	8	1528	c.1322C>T	c.(1321-1323)GCC>GTC	p.A441V	FYCO1_uc011bal.1_Missense_Mutation_p.A441V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	441	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTGGCCCGGGCATCCTCTTT	0.612												
KLHL18	23276	broad.mit.edu	37	3	47378211	47378211	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:47378211C>T	uc003crd.2	+	7	1211	c.1085C>T	c.(1084-1086)ACA>ATA	p.T362I	KLHL18_uc003crc.2_Missense_Mutation_p.T362I|KLHL18_uc011bav.1_Missense_Mutation_p.T250I|KLHL18_uc010hjq.1_Missense_Mutation_p.T218I	NM_025010	NP_079286	O94889	KLH18_HUMAN	kelch-like 18	362	Kelch 2.										0		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAGACAGACACATGGACCAGA	0.577												
SCAP	22937	broad.mit.edu	37	3	47461185	47461185	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:47461185C>T	uc003crh.1	-	13	1828	c.1573G>A	c.(1573-1575)GTT>ATT	p.V525I	SCAP_uc011baz.1_Missense_Mutation_p.V270I|SCAP_uc003crg.2_Missense_Mutation_p.V133I	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	525	Helical; Name=7; (Potential).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ATCCAGACAACGGTGCCAGCC	0.632												
PLXNB1	5364	broad.mit.edu	37	3	48451076	48451076	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48451076G>A	uc003csw.2	-	33	6112	c.5842C>T	c.(5842-5844)CCG>TCG	p.P1948S	PLXNB1_uc003cst.2_Missense_Mutation_p.P398S|PLXNB1_uc003csu.2_Missense_Mutation_p.P1765S|PLXNB1_uc003csx.2_Missense_Mutation_p.P1948S	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	1948	Cytoplasmic (Potential).				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCGAGCGGCACGGGGCGG	0.582												
CELSR3	1951	broad.mit.edu	37	3	48696881	48696881	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48696881T>C	uc003cul.2	-	1	3468	c.3187A>G	c.(3187-3189)AAT>GAT	p.N1063D	CELSR3_uc003cuf.1_Missense_Mutation_p.N1133D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1063	Extracellular (Potential).|Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGGTGCATTGTCGTTCACA	0.552												
CELSR3	1951	broad.mit.edu	37	3	48698957	48698957	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48698957G>A	uc003cul.2	-	1	1392	c.1111C>T	c.(1111-1113)CGC>TGC	p.R371C	CELSR3_uc003cuf.1_Missense_Mutation_p.R441C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	371	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCAGCGAGCGGCTGTTCATG	0.677												
CELSR3	1951	broad.mit.edu	37	3	48699280	48699280	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:48699280C>T	uc003cul.2	-	1	1069	c.788G>A	c.(787-789)CGC>CAC	p.R263H	CELSR3_uc003cuf.1_Missense_Mutation_p.R333H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	263	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCGAGACTCGCGGGGTGCTGA	0.731												
QRICH1	54870	broad.mit.edu	37	3	49068057	49068057	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49068057C>T	uc010hkq.2	-	11	2455	c.2159G>A	c.(2158-2160)CGG>CAG	p.R720Q	IMPDH2_uc003cvt.2_5'Flank|IMPDH2_uc010hkp.1_5'Flank|QRICH1_uc003cvu.2_Missense_Mutation_p.R720Q|QRICH1_uc003cvv.2_Missense_Mutation_p.R720Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	720										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTGTCATTCCGGCCTTTCAC	0.522												
QARS	5859	broad.mit.edu	37	3	49141346	49141346	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49141346G>A	uc003cvx.2	-	3	330	c.325C>T	c.(325-327)CGG>TGG	p.R109W	QARS_uc011bcd.1_5'UTR|QARS_uc003cvy.2_5'UTR|QARS_uc011bce.1_Missense_Mutation_p.R98W|QARS_uc011bcf.1_Missense_Mutation_p.R109W	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	109					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCACATTCCCGCTCGAAGTCC	0.582												
LAMB2	3913	broad.mit.edu	37	3	49166108	49166108	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49166108G>A	uc003cwe.2	-	14	2175	c.1876C>T	c.(1876-1878)CGC>TGC	p.R626C	LAMB2_uc003cwf.1_Missense_Mutation_p.R626C	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	626	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCTCTAAGCGCAGCAGCAGG	0.582												
LAMB2	3913	broad.mit.edu	37	3	49167667	49167667	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49167667G>A	uc003cwe.2	-	9	1521	c.1222C>T	c.(1222-1224)CGC>TGC	p.R408C	LAMB2_uc003cwf.1_Missense_Mutation_p.R408C	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	408	Laminin EGF-like 2.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCTCACAGCGGCACACAGCC	0.587												
RNF123	63891	broad.mit.edu	37	3	49742583	49742583	+	Missense_Mutation	SNP	C	C	T	rs151252055		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49742583C>T	uc003cxh.2	+	23	2212	c.2126C>T	c.(2125-2127)ACG>ATG	p.T709M	RNF123_uc010hky.1_Missense_Mutation_p.T371M|RNF123_uc003cxi.2_RNA	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	ring finger protein 123	709						cytoplasm	ligase activity|protein binding|zinc ion binding			kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AAGGTCCGCACGCTGAGCGTG	0.647												
AMIGO3	386724	broad.mit.edu	37	3	49755649	49755649	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49755649C>T	uc003cxj.2	-	1	1590	c.1250G>A	c.(1249-1251)CGC>CAC	p.R417H	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	417	Cytoplasmic (Potential).				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCcagcggcggcagcggca	0.537												
AMIGO3	386724	broad.mit.edu	37	3	49755895	49755895	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:49755895C>T	uc003cxj.2	-	1	1344	c.1004G>A	c.(1003-1005)GGC>GAC	p.G335D	RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	335	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				pancreas(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCAAGCTGCCGTCGGCCAG	0.667												
SEMA3F	6405	broad.mit.edu	37	3	50222097	50222097	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:50222097C>T	uc003cyj.2	+	13	1504	c.1306C>T	c.(1306-1308)CGC>TGC	p.R436C	SEMA3F_uc003cyk.2_Missense_Mutation_p.R405C	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	436	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAACTTCATGCGCAGCCACCC	0.592												
HYAL1	3373	broad.mit.edu	37	3	50338110	50338110	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:50338110C>T	uc003czp.2	-	4	1244	c.1112G>A	c.(1111-1113)CGC>CAC	p.R371H	HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.R189H|HYAL1_uc003czo.2_Missense_Mutation_p.R112H|HYAL1_uc003czq.2_Missense_Mutation_p.R341H|HYAL1_uc003czr.2_Missense_Mutation_p.R371H|HYAL1_uc003czn.2_Missense_Mutation_p.R32H|HYAL1_uc003czs.2_Missense_Mutation_p.R371H|HYAL1_uc003czt.2_3'UTR	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	371	EGF-like.					extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GCTGGTGCGGCGGACACAGCG	0.647												
GRM2	2912	broad.mit.edu	37	3	51746781	51746781	+	Missense_Mutation	SNP	C	C	T	rs141459351	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:51746781C>T	uc010hlv.2	+	3	982	c.743C>T	c.(742-744)GCG>GTG	p.A248V	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	248	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ATGAGCCGCGCGGCCTTTGAG	0.647												
POC1A	25886	broad.mit.edu	37	3	52183326	52183326	+	Missense_Mutation	SNP	C	C	T	rs143181521		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52183326C>T	uc003dcu.2	-	4	673	c.355G>A	c.(355-357)GTG>ATG	p.V119M	POC1A_uc003dcv.2_Missense_Mutation_p.V81M|POC1A_uc003dcw.2_Missense_Mutation_p.V119M	NM_015426	NP_056241	Q8NBT0	POC1A_HUMAN	WD repeat domain 51A isoform 1	119	WD 3.					centriole|microtubule basal body					0						GAGGCTGTCACGAAGGACTGG	0.537												
ALAS1	211	broad.mit.edu	37	3	52246368	52246368	+	Missense_Mutation	SNP	G	G	T	rs139914359		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52246368G>T	uc003dcy.1	+	11	2031	c.1694G>T	c.(1693-1695)CGG>CTG	p.R565L	ALAS1_uc003dcz.1_Missense_Mutation_p.R565L|ALAS1_uc011bec.1_Missense_Mutation_p.R582L	NM_000688	NP_000679	P13196	HEM1_HUMAN	5-aminolevulinate synthase 1 precursor	565					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACGGTGCCCCGGGGAGAAGAG	0.517												
GLYCTK	132158	broad.mit.edu	37	3	52326884	52326884	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52326884G>A	uc003ddo.2	+	5	1410	c.1314G>A	c.(1312-1314)CCG>CCA	p.P438P	GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.2_Silent_p.P102P	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	438					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GAAGGTGGCCGCTGGGGCCGA	0.662												
DNAH1	25981	broad.mit.edu	37	3	52431783	52431783	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52431783C>T	uc011bef.1	+	74	12109	c.11848C>T	c.(11848-11850)CAT>TAT	p.H3950Y	DNAH1_uc003ddv.2_Missense_Mutation_p.H808Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4015					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)		CTTTGGCCTGCATGACAATGC	0.557												
DNAH1	25981	broad.mit.edu	37	3	52433040	52433040	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52433040A>G	uc011bef.1	+	76	12525	c.12264A>G	c.(12262-12264)TCA>TCG	p.S4088S	DNAH1_uc003ddv.2_Silent_p.S946S	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4153					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)		CTCTGTCATCATGGGTCATGG	0.567												
BAP1	8314	broad.mit.edu	37	3	52437205	52437205	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52437205C>T	uc003ddx.2	-	14	1954	c.1839G>A	c.(1837-1839)ACG>ACA	p.T613T	BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	NM_004656	NP_004647	Q92560	BAP1_HUMAN	BRCA1 associated protein-1	613	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCACCATCCCCGTCTTCTCTC	0.597			N|Mis|F|S|O		uveal melanoma|breast|NSCLC							
STAB1	23166	broad.mit.edu	37	3	52540747	52540747	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52540747A>G	uc003dej.2	+	18	1944	c.1870A>G	c.(1870-1872)AGG>GGG	p.R624G	STAB1_uc003dei.1_Missense_Mutation_p.R624G	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	624	Extracellular (Potential).|FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCGCTGCAGAGGGTAGACGT	0.692												
TMEM110	375346	broad.mit.edu	37	3	52878871	52878871	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:52878871C>T	uc003dge.2	-	5	595	c.514G>A	c.(514-516)GTC>ATC	p.V172I	MUSTN1_uc003dgb.3_5'Flank|TMEM110_uc003dgc.3_Missense_Mutation_p.V172I	NM_198563	NP_940965	Q86TL2	TM110_HUMAN	transmembrane protein 110	172	Helical; (Potential).					integral to membrane				large_intestine(1)	1				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ATTAGGAGGACGATGAAGACG	0.537												
TKT	7086	broad.mit.edu	37	3	53263034	53263034	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:53263034C>T	uc003dgo.2	-	10	1494	c.1384G>A	c.(1384-1386)GCC>ACC	p.A462T	TKT_uc003dgp.2_Missense_Mutation_p.A94T|TKT_uc011beo.1_Missense_Mutation_p.A415T|TKT_uc003dgq.2_Missense_Mutation_p.A462T|TKT_uc011beq.1_Missense_Mutation_p.A470T|TKT_uc011ber.1_Missense_Mutation_p.A264T|TKT_uc011bep.1_Missense_Mutation_p.A379T	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1	462					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TTTGTATTGGCGGCTAGTTCC	0.527												
CACNA1D	776	broad.mit.edu	37	3	53810059	53810059	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:53810059T>G	uc003dgv.3	+	35	4512	c.4349T>G	c.(4348-4350)CTC>CGC	p.L1450R	CACNA1D_uc003dgu.3_Missense_Mutation_p.L1470R|CACNA1D_uc003dgy.3_Missense_Mutation_p.L1435R|CACNA1D_uc003dgw.3_Missense_Mutation_p.L1117R|CACNA1D_uc003dgx.1_Missense_Mutation_p.L626R	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1450	Dihydropyridine binding (By similarity).|IV.|Phenylalkylamine binding (By similarity).|Helical; Name=S6 of repeat IV; (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)	TTTTACATGCTCTGTGCATTT	0.483												
CACNA2D3	55799	broad.mit.edu	37	3	54596945	54596945	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:54596945T>A	uc003dhf.2	+	6	711	c.663T>A	c.(661-663)TTT>TTA	p.F221L	CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Missense_Mutation_p.F127L|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha	221	Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGGGCTTTTTTAGGCAGTATC	0.373												
CCDC66	285331	broad.mit.edu	37	3	56627979	56627979	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:56627979C>T	uc003dhz.2	+	10	1414	c.1327C>T	c.(1327-1329)CGT>TGT	p.R443C	CCDC66_uc003dhy.2_Missense_Mutation_p.R79C|CCDC66_uc003dhu.2_Missense_Mutation_p.R409C|CCDC66_uc003dhx.2_RNA	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66 isoform 1	443										breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGCTTTCTCCGTTCTATGAC	0.363												
ADAMTS9	56999	broad.mit.edu	37	3	64607996	64607996	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:64607996G>A	uc003dmg.2	-	18	2596	c.2564C>T	c.(2563-2565)TCG>TTG	p.S855L	ADAMTS9_uc011bfo.1_Missense_Mutation_p.S827L|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S684L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S855L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	855	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTTTCCCACCGACAAAACCTA	0.443												
LRIG1	26018	broad.mit.edu	37	3	66457835	66457835	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:66457835C>T	uc003dmx.2	-	8	1030	c.1016G>A	c.(1015-1017)AGC>AAC	p.S339N	LRIG1_uc003dmw.2_5'Flank|LRIG1_uc010hnz.2_Missense_Mutation_p.S79N|LRIG1_uc010hoa.2_Missense_Mutation_p.S339N	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	339	Extracellular (Potential).|LRR 12.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGAATTGTGGCTGAGACGCAG	0.602												
GPR27	2850	broad.mit.edu	37	3	71803255	71803255	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:71803255G>T	uc011bge.1	+	1	55	c.55G>T	c.(55-57)GGC>TGC	p.G19C	EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_Intron|EIF4E3_uc010hoc.2_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	19	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GGCCGCCCTGGGCCTCAAGCT	0.766												
PDZRN3	23024	broad.mit.edu	37	3	73432926	73432926	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:73432926G>A	uc003dpl.1	-	10	2887	c.2791C>T	c.(2791-2793)CGC>TGC	p.R931C	PDZRN3_uc011bgh.1_Missense_Mutation_p.R588C|PDZRN3_uc010hoe.1_Missense_Mutation_p.R629C|PDZRN3_uc011bgf.1_Missense_Mutation_p.R648C|PDZRN3_uc011bgg.1_Missense_Mutation_p.R651C	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	931							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTGATGTAGCGCGTCCCGTCG	0.672												
VGLL3	389136	broad.mit.edu	37	3	87017929	87017929	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:87017929G>T	uc003dqn.2	-	3	1112	c.748C>A	c.(748-750)CCT>ACT	p.P250T		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GAGCCAGCAGGAGggtggtga	0.473												
EPHA6	285220	broad.mit.edu	37	3	97356829	97356829	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:97356829G>A	uc010how.1	+	14	2730	c.2687G>A	c.(2686-2688)CGG>CAG	p.R896Q	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.R288Q|EPHA6_uc003drr.3_Missense_Mutation_p.R288Q|EPHA6_uc003drt.2_Missense_Mutation_p.R288Q|EPHA6_uc010hox.1_RNA	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	EPH receptor A6 isoform a	801	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						CTAGCGGCTCGGAATATACTG	0.443												
CPOX	1371	broad.mit.edu	37	3	98299553	98299553	+	Missense_Mutation	SNP	G	G	A	rs28931603		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:98299553G>A	uc003dsx.2	-	7	1432	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C		NM_000097	NP_000088	P36551	HEM6_HUMAN	coproporphyrinogen oxidase precursor	447						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity				0						CTTGGATGGCGTAGAACTTCC	0.493												
COL8A1	1295	broad.mit.edu	37	3	99514602	99514602	+	Silent	SNP	C	C	T	rs115676498	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:99514602C>T	uc003dtg.1	+	5	2102	c.1857C>T	c.(1855-1857)ACC>ACT	p.T619T	COL8A1_uc003dth.1_Silent_p.T619T|COL8A1_uc003dti.1_Silent_p.T620T	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	619	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						CTGCATTTACCGCCGAGCTAA	0.557												
TBC1D23	55773	broad.mit.edu	37	3	100018114	100018114	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:100018114G>A	uc003dtt.2	+	10	1208	c.1031G>A	c.(1030-1032)CGT>CAT	p.R344H	TBC1D23_uc003dts.2_Missense_Mutation_p.R344H	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	344	Rhodanese.					intracellular	Rab GTPase activator activity			ovary(1)|liver(1)	2						GTGGATTGCCGTCCTGCAGAA	0.373												
SENP7	57337	broad.mit.edu	37	3	101060606	101060606	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:101060606C>T	uc003dut.2	-	15	2235	c.2124G>A	c.(2122-2124)GCG>GCA	p.A708A	SENP7_uc003duu.2_Silent_p.A643A|SENP7_uc003duv.2_Silent_p.A675A|SENP7_uc003duw.2_Silent_p.A642A|SENP7_uc003dux.2_Silent_p.A544A	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	708					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TAGGCTTGGCCGCATCTGTGT	0.438												
SIDT1	54847	broad.mit.edu	37	3	113344997	113344997	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:113344997G>T	uc003eak.2	+	24	3007	c.2356G>T	c.(2356-2358)GAT>TAT	p.D786Y	SIDT1_uc011big.1_Missense_Mutation_p.D539Y|SIDT1_uc011bii.1_Missense_Mutation_p.D239Y	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	786	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						CATTCTGCTGGATTTCTTCGA	0.488												
TIGIT	201633	broad.mit.edu	37	3	114014391	114014391	+	Splice_Site	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:114014391G>T	uc003ebg.1	+	2	96	c.62_splice	c.e2-1	p.G21_splice		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains						negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)	1						CTCTTCCCTAGGAATGATGAC	0.493												
STXBP5L	9515	broad.mit.edu	37	3	120959299	120959299	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:120959299A>G	uc003eec.3	+	14	1485	c.1345A>G	c.(1345-1347)AGT>GGT	p.S449G	STXBP5L_uc011bji.1_Missense_Mutation_p.S449G	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	449	WD 8.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GTGGCCAATCAGTGGAGGAGC	0.303												
SEMA5B	54437	broad.mit.edu	37	3	122641181	122641181	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:122641181G>T	uc003efz.1	-	11	1690	c.1386C>A	c.(1384-1386)CCC>CCA	p.P462P	SEMA5B_uc011bju.1_Silent_p.P404P|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.P462P|SEMA5B_uc010hro.1_Silent_p.P404P|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	462	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)		GGGTGACACAGGGCTCGGGTG	0.637												
ADCY5	111	broad.mit.edu	37	3	123010121	123010121	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123010121C>T	uc003egh.1	-	18	3166	c.3166G>A	c.(3166-3168)GAG>AAG	p.E1056K	ADCY5_uc003egg.1_Missense_Mutation_p.E714K	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1056	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TTGCGCCGCTCGCGGGCCAGG	0.602												
KALRN	8997	broad.mit.edu	37	3	123987740	123987740	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123987740C>T	uc003ehg.2	+	5	728	c.601C>T	c.(601-603)CTC>TTC	p.L201F	KALRN_uc010hrv.1_Missense_Mutation_p.L201F|KALRN_uc003ehf.1_Missense_Mutation_p.L201F|KALRN_uc011bjy.1_Missense_Mutation_p.L201F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	201	Spectrin 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						CGTGCACCTGCTCTCGCGCCT	0.597												
KALRN	8997	broad.mit.edu	37	3	123988090	123988090	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123988090G>T	uc003ehg.2	+	5	1078	c.951G>T	c.(949-951)CAG>CAT	p.Q317H	KALRN_uc010hrv.1_Missense_Mutation_p.Q317H|KALRN_uc003ehf.1_Missense_Mutation_p.Q317H|KALRN_uc011bjy.1_Missense_Mutation_p.Q317H	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	317	Spectrin 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TCTTCGAGCAGGATGCTGAGA	0.562												
KALRN	8997	broad.mit.edu	37	3	124174121	124174121	+	Missense_Mutation	SNP	C	C	T	rs148828057		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:124174121C>T	uc003ehg.2	+	22	3771	c.3644C>T	c.(3643-3645)ACG>ATG	p.T1215M	KALRN_uc010hrv.1_Missense_Mutation_p.T1206M|KALRN_uc003ehf.1_Missense_Mutation_p.T1215M|KALRN_uc011bjy.1_Missense_Mutation_p.T1206M|KALRN_uc003ehh.1_Missense_Mutation_p.T561M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1215	Spectrin 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						TGGGTGACCACGGTGGACAAG	0.498												
ITGB5	3693	broad.mit.edu	37	3	124492757	124492757	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:124492757G>T	uc003eho.2	-	11	1993	c.1696C>A	c.(1696-1698)CAT>AAT	p.H566N	ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	566	III.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		CACTCGCCATGGCCTAAAAGG	0.383												
PLXNA1	5361	broad.mit.edu	37	3	126730826	126730826	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:126730826C>T	uc003ejg.2	+	9	2073	c.2069C>T	c.(2068-2070)ACG>ATG	p.T690M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	713	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CTGCCCTCCACGCAGATCTAC	0.612												
PLXNA1	5361	broad.mit.edu	37	3	126749160	126749160	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:126749160G>A	uc003ejg.2	+	28	5071	c.5067G>A	c.(5065-5067)CCG>CCA	p.P1689P	PLXNA1_uc003ejh.2_Silent_p.P357P	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1712	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)		CAGCCCTGCCGCTGGCCATCA	0.597												
TPRA1	131601	broad.mit.edu	37	3	127295889	127295889	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:127295889G>A	uc003ejl.2	-	3	580	c.289C>T	c.(289-291)CGG>TGG	p.R97W	TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Missense_Mutation_p.R97W|TPRA1_uc010hsk.2_Missense_Mutation_p.R97W|TPRA1_uc003ejn.2_Missense_Mutation_p.R97W	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN	G protein-coupled receptor 175 isoform 1	97					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity				0						ACCACGGCCCGGGCAATGCCC	0.652												
ABTB1	80325	broad.mit.edu	37	3	127394896	127394896	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:127394896G>A	uc003ejt.2	+	4	347	c.259G>A	c.(259-261)GAT>AAT	p.D87N	ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.D62N|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	87						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity				0						GGCTCTACGCGATTACAAGCA	0.652												
ACAD9	28976	broad.mit.edu	37	3	128628217	128628217	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:128628217T>C	uc003ela.3	+	15	1718	c.1516T>C	c.(1516-1518)TAC>CAC	p.Y506H	ACAD9_uc011bks.1_Missense_Mutation_p.Y383H|ACAD9_uc003elb.2_Missense_Mutation_p.Y383H|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.Y158H	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	506						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						GGAGAACACCTACTGCTTCGG	0.592												
PLXND1	23129	broad.mit.edu	37	3	129280700	129280700	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:129280700G>A	uc003emx.2	-	28	4972	c.4872C>T	c.(4870-4872)GAC>GAT	p.D1624D	PLXND1_uc011blb.1_Silent_p.D292D	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	1624	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CTGAGGTGTCGTCCAGGTCCC	0.652												
TF	7018	broad.mit.edu	37	3	133465297	133465297	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:133465297G>A	uc003epu.1	+	6	1741	c.13G>A	c.(13-15)GTG>ATG	p.V5M	TF_uc011bls.1_Missense_Mutation_p.V5M|TF_uc011blt.1_Translation_Start_Site|TF_uc003epw.1_Missense_Mutation_p.V5M|TF_uc010htv.1_Intron|TF_uc003epv.1_Missense_Mutation_p.V5M	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	5					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GAGGCTCGCCGTGGGAGCCCT	0.716												
CEP63	80254	broad.mit.edu	37	3	134270808	134270808	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:134270808G>A	uc003eqo.1	+	13	1870	c.1421G>A	c.(1420-1422)CGT>CAT	p.R474H	CEP63_uc003eql.1_Missense_Mutation_p.R428H|CEP63_uc003eqm.2_Missense_Mutation_p.R428H|CEP63_uc003eqn.1_Missense_Mutation_p.R474H|CEP63_uc003eqp.1_Missense_Mutation_p.R103H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	474	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						TTAGAAAATCGTCATCTTTCT	0.308												
PCCB	5096	broad.mit.edu	37	3	136046531	136046531	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:136046531A>G	uc003eqy.1	+	13	1406	c.1355A>G	c.(1354-1356)AAC>AGC	p.N452S	PCCB_uc003eqz.1_Missense_Mutation_p.N452S|PCCB_uc011bmc.1_Missense_Mutation_p.N472S	NM_000532	NP_000523	P05166	PCCB_HUMAN	propionyl Coenzyme A carboxylase, beta	452	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)	GGTGATACCAACTATGCCTGG	0.522												
CLDN18	51208	broad.mit.edu	37	3	137742517	137742517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:137742517C>T	uc003ero.1	+	2	291	c.238C>T	c.(238-240)CGA>TGA	p.R80*	CLDN18_uc003erp.1_Nonsense_Mutation_p.R80*|CLDN18_uc010hue.1_Missense_Mutation_p.A75V	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	claudin 18 isoform 2	80	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R80R(1)		upper_aerodigestive_tract(1)|ovary(1)	2						GCAGGCAGTGCGAGCCCTGAT	0.522												
ATR	545	broad.mit.edu	37	3	142278281	142278281	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:142278281C>T	uc003eux.3	-	7	1666	c.1544G>A	c.(1543-1545)CGT>CAT	p.R515H		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	515					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						CTTGAAAGTACGGCTGCAGTA	0.318								Other_conserved_DNA_damage_response_genes				
ZIC4	84107	broad.mit.edu	37	3	147108942	147108942	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:147108942G>A	uc003ewd.1	-	4	1053	c.780C>T	c.(778-780)AGC>AGT	p.S260S	ZIC4_uc003ewc.1_Silent_p.S190S|ZIC4_uc011bno.1_Silent_p.S310S	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN	zinc finger protein of the cerebellum 4	260						nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2						ATGGCTTGTCGCTAGTGTGCA	0.647												
DHX36	170506	broad.mit.edu	37	3	154002398	154002398	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:154002398G>A	uc003ezy.3	-	19	2347	c.2266C>T	c.(2266-2268)CAC>TAC	p.H756Y	DHX36_uc010hvq.2_Missense_Mutation_p.H742Y|DHX36_uc003ezz.3_Intron	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	756						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ACTGTTAAGTGATCACTTCTA	0.303												
PTX3	5806	broad.mit.edu	37	3	157155333	157155333	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:157155333G>A	uc003fbl.3	+	2	305	c.162G>A	c.(160-162)TCG>TCA	p.S54S	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	54					inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGAGCACTCGGAATGGGACA	0.612												
NMD3	51068	broad.mit.edu	37	3	160958926	160958926	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:160958926C>T	uc003feb.1	+	10	965	c.846C>T	c.(844-846)CAC>CAT	p.H282H	NMD3_uc003fec.2_Silent_p.H282H|NMD3_uc003fed.1_Silent_p.H282H|NMD3_uc010hwh.2_Silent_p.H102H	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	282					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GTGCCATTCACCTCATTGATC	0.363												
PLD1	5337	broad.mit.edu	37	3	171379954	171379954	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:171379954G>A	uc003fhs.2	-	20	2352	c.2236C>T	c.(2236-2238)CGC>TGC	p.R746C	PLD1_uc003fht.2_Missense_Mutation_p.R708C|PLD1_uc003fhu.3_Missense_Mutation_p.R40C|PLD1_uc003fhv.1_Missense_Mutation_p.R71C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	phospholipase D1 isoform a	746	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			ovary(2)|lung(1)	3	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCAGCAGAGCGGAGCAACTAC	0.428												
NLGN1	22871	broad.mit.edu	37	3	173996996	173996996	+	Missense_Mutation	SNP	G	G	A	rs76946997	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:173996996G>A	uc003fio.1	+	6	1628	c.1205G>A	c.(1204-1206)AGC>AAC	p.S402N	NLGN1_uc010hww.1_Missense_Mutation_p.S442N|NLGN1_uc003fip.1_Missense_Mutation_p.S402N	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	419	Extracellular (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATAGTAGATAGCGATGATGGT	0.348												
PIK3CA	5290	broad.mit.edu	37	3	178916890	178916890	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:178916890C>T	uc003fjk.2	+	2	434	c.277C>T	c.(277-279)CGG>TGG	p.R93W		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	93	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R93W(5)|p.R93Q(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTGTGACCTTCGGCTTTTTCA	0.343		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3CA	5290	broad.mit.edu	37	3	178952006	178952006	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:178952006T>C	uc003fjk.2	+	21	3218	c.3061T>C	c.(3061-3063)TAC>CAC	p.Y1021H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1021	PI3K/PI4K.		Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Y1021C(17)|p.Y1021H(2)|p.Y1021N(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGACATTGCATACATTCGAAA	0.388		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
ATP11B	23200	broad.mit.edu	37	3	182584192	182584192	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:182584192C>A	uc003flb.2	+	14	1837	c.1580C>A	c.(1579-1581)TCT>TAT	p.S527Y	ATP11B_uc003flc.2_Missense_Mutation_p.S111Y	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	527	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TACTATGCATCTTCACCAGAT	0.413												
ATP11B	23200	broad.mit.edu	37	3	182586903	182586903	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:182586903C>T	uc003flb.2	+	16	1983	c.1726C>T	c.(1726-1728)CGT>TGT	p.R576C	ATP11B_uc003flc.2_Missense_Mutation_p.R160C	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	576	Cytoplasmic (Potential).				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGATTCAGATCGTAGGAGAAT	0.274												
MCF2L2	23101	broad.mit.edu	37	3	183027529	183027529	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183027529T>C	uc003fli.1	-	10	1178	c.1088A>G	c.(1087-1089)CAC>CGC	p.H363R	MCF2L2_uc003flj.1_Missense_Mutation_p.H363R|MCF2L2_uc003flp.1_3'UTR|MCF2L2_uc011bqs.1_RNA	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	363	Spectrin.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)|large_intestine(2)|breast(1)	5	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGTTTTTTGTGTTCCTTAAG	0.458												
DVL3	1857	broad.mit.edu	37	3	183888240	183888240	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183888240G>A	uc003fms.2	+	15	1988	c.1848G>A	c.(1846-1848)CCG>CCA	p.P616P	DVL3_uc011bqw.1_Silent_p.P599P|DVL3_uc003fmt.2_Silent_p.P287P|DVL3_uc003fmu.2_Silent_p.P448P	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	616					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TGCGGGGGCCGCGGGAGCGGG	0.731												
AP2M1	1173	broad.mit.edu	37	3	183899533	183899533	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183899533C>T	uc011bqx.1	+	8	914	c.757C>T	c.(757-759)CGA>TGA	p.R253*	AP2M1_uc003fmw.2_Nonsense_Mutation_p.R251*|AP2M1_uc003fmx.2_Nonsense_Mutation_p.R181*|AP2M1_uc003fmy.2_Nonsense_Mutation_p.R251*|AP2M1_uc011bqy.1_Nonsense_Mutation_p.R123*|AP2M1_uc011bqz.1_Nonsense_Mutation_p.R69*	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	253	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCAGTGTGTGCGACTCAGCAA	0.522												
ECE2	9718	broad.mit.edu	37	3	183995760	183995760	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183995760C>T	uc003fni.3	+	5	918	c.880C>T	c.(880-882)CGC>TGC	p.R294C	ECE2_uc011brg.1_Missense_Mutation_p.R222C|ECE2_uc011brh.1_Missense_Mutation_p.R147C|ECE2_uc003fnl.3_Missense_Mutation_p.R222C|ECE2_uc003fnm.3_Missense_Mutation_p.R176C|ECE2_uc003fnk.3_Missense_Mutation_p.R147C|ECE2_uc011bri.1_Missense_Mutation_p.R209C|ECE2_uc010hxv.2_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	294	Lumenal (Potential).|Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGACACAGCGCTTCTACCT	0.557												
EIF4G1	1981	broad.mit.edu	37	3	184040890	184040890	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184040890G>A	uc003fnp.2	+	14	2147	c.1949G>A	c.(1948-1950)CGG>CAG	p.R650Q	EIF4G1_uc003fno.1_Missense_Mutation_p.R591Q|EIF4G1_uc010hxw.1_Missense_Mutation_p.R486Q|EIF4G1_uc003fnt.2_Missense_Mutation_p.R361Q|EIF4G1_uc003fnq.2_Missense_Mutation_p.R563Q|EIF4G1_uc003fnr.2_Missense_Mutation_p.R486Q|EIF4G1_uc010hxx.2_Missense_Mutation_p.R657Q|EIF4G1_uc003fns.2_Missense_Mutation_p.R610Q|EIF4G1_uc010hxy.2_Missense_Mutation_p.R657Q|EIF4G1_uc003fnv.3_Missense_Mutation_p.R650Q|EIF4G1_uc003fnu.3_Missense_Mutation_p.R650Q|EIF4G1_uc003fnw.2_Missense_Mutation_p.R657Q|EIF4G1_uc003fnx.2_Missense_Mutation_p.R454Q|EIF4G1_uc003fny.3_Missense_Mutation_p.R454Q|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	650	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACACCACTGCGGCCACTGGAT	0.547												
EIF4G1	1981	broad.mit.edu	37	3	184042855	184042855	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184042855C>T	uc003fnp.2	+	18	3007	c.2809C>T	c.(2809-2811)CGT>TGT	p.R937C	EIF4G1_uc003fno.1_Missense_Mutation_p.R878C|EIF4G1_uc010hxw.1_Missense_Mutation_p.R773C|EIF4G1_uc003fnt.2_Missense_Mutation_p.R648C|EIF4G1_uc003fnq.2_Missense_Mutation_p.R850C|EIF4G1_uc003fnr.2_Missense_Mutation_p.R773C|EIF4G1_uc010hxx.2_Missense_Mutation_p.R944C|EIF4G1_uc003fns.2_Missense_Mutation_p.R897C|EIF4G1_uc010hxy.2_Missense_Mutation_p.R944C|EIF4G1_uc003fnv.3_Missense_Mutation_p.R938C|EIF4G1_uc003fnu.3_Missense_Mutation_p.R937C|EIF4G1_uc003fnw.2_Missense_Mutation_p.R944C|EIF4G1_uc003fnx.2_Missense_Mutation_p.R742C|EIF4G1_uc003fny.3_Missense_Mutation_p.R741C|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	937	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGCCTTTGTCGTCTGCTCAC	0.478												
CLCN2	1181	broad.mit.edu	37	3	184072414	184072414	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184072414T>C	uc003foi.2	-	14	1553	c.1429A>G	c.(1429-1431)ATG>GTG	p.M477V	CLCN2_uc003foh.2_Missense_Mutation_p.M1V|CLCN2_uc010hya.1_Intron|CLCN2_uc011brl.1_Missense_Mutation_p.M477V|CLCN2_uc011brm.1_Missense_Mutation_p.M433V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	477	Helical; (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CAGGCAGCCATGCTTTCACCC	0.408											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
THPO	7066	broad.mit.edu	37	3	184090422	184090422	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184090422G>T	uc003fol.1	-	6	1156	c.941C>A	c.(940-942)CCC>CAC	p.P314H	THPO_uc003fom.1_Missense_Mutation_p.P310H|THPO_uc003fon.2_Silent_p.A275A|THPO_uc011bro.1_Intron|THPO_uc003fop.2_Silent_p.A271A|THPO_uc011brp.1_Intron|THPO_uc011brq.1_Silent_p.A235A	NM_000460	NP_000451	P40225	TPO_HUMAN	thrombopoietin precursor	314	Pro-rich.				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			ovary(1)	1	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACAGGGGTGGGCAAGGTGGG	0.602												
CHRD	8646	broad.mit.edu	37	3	184104713	184104713	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184104713C>T	uc003fov.2	+	17	2523	c.2277C>T	c.(2275-2277)TGC>TGT	p.C759C	CHRD_uc003fow.2_Silent_p.C389C|CHRD_uc003fox.2_Silent_p.C759C|CHRD_uc003foy.2_Silent_p.C389C|CHRD_uc010hyc.2_Silent_p.C349C|CHRD_uc011brr.1_Silent_p.C301C	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	759	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGTGCTGCCCTGTTTGCC	0.662												
MAGEF1	64110	broad.mit.edu	37	3	184428773	184428773	+	Silent	SNP	G	G	A	rs142008611		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:184428773G>A	uc003fpa.2	-	1	1064	c.837C>T	c.(835-837)GAC>GAT	p.D279D		NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	279										ovary(1)	1	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			tGTCGGCCTCGTCTGCTAGGG	0.408												
MAP3K13	9175	broad.mit.edu	37	3	185190867	185190867	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:185190867G>A	uc010hyf.2	+	12	2014	c.1748G>A	c.(1747-1749)CGA>CAA	p.R583Q	MAP3K13_uc011brt.1_Missense_Mutation_p.R376Q|MAP3K13_uc011bru.1_Missense_Mutation_p.R439Q|MAP3K13_uc003fpi.2_Missense_Mutation_p.R583Q|MAP3K13_uc010hyg.2_Missense_Mutation_p.R273Q	NM_004721	NP_004712	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase	583					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			ovary(2)|skin(1)	3	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGCAAGAGCCGATATCGAAGC	0.537												
HRG	3273	broad.mit.edu	37	3	186395317	186395317	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:186395317G>A	uc003fqq.2	+	7	1246	c.1223G>A	c.(1222-1224)TGC>TAC	p.C408Y		NM_000412	NP_000403	P04196	HRG_HUMAN	histidine-rich glycoprotein precursor	408	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			ovary(1)|central_nervous_system(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		catccccactgccatGATTTC	0.269												
BCL6	604	broad.mit.edu	37	3	187440320	187440320	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:187440320C>T	uc003frp.3	-	10	2504	c.2047G>A	c.(2047-2049)GCC>ACC	p.A683T	BCL6_uc011bsf.1_Missense_Mutation_p.A627T|BCL6_uc010hza.2_Missense_Mutation_p.A581T|BCL6_uc003frq.1_Missense_Mutation_p.A683T	NM_001130845	NP_001124317	P41182	BCL6_HUMAN	B-cell lymphoma 6 protein isoform 1	683					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|lung(2)|central_nervous_system(1)	5	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTGGTGATGGCGCCATGCTTC	0.542			T|Mis	IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3	NHL|CLL							
MUC4	4585	broad.mit.edu	37	3	195486029	195486029	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:195486029C>T	uc011bto.1	-	18	15028	c.14568G>A	c.(14566-14568)ACG>ACA	p.T4856T	MUC4_uc003fuz.2_Silent_p.T582T|MUC4_uc003fva.2_Silent_p.T464T|MUC4_uc003fvb.2_Silent_p.T500T|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.T500T|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.T464T|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.T548T|MUC4_uc011bti.1_Silent_p.T548T|MUC4_uc011btj.1_Silent_p.T725T|MUC4_uc011btk.1_Silent_p.T464T|MUC4_uc011btl.1_Silent_p.T493T|MUC4_uc011btm.1_Silent_p.T673T|MUC4_uc011btn.1_Silent_p.T464T|MUC4_uc003fvo.2_Silent_p.T748T|MUC4_uc003fvp.2_Silent_p.T697T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1741					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCTCTGAGCGTGAAGTTGG	0.547												
MUC4	4585	broad.mit.edu	37	3	195495900	195495900	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:195495900A>C	uc011bto.1	-	8	13598	c.13138T>G	c.(13138-13140)TTC>GTC	p.F4380V	MUC4_uc003fuz.2_Silent_p.A135A|MUC4_uc003fva.2_Intron|MUC4_uc003fvb.2_Silent_p.A53A|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.A53A|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.F72V|MUC4_uc011bti.1_Missense_Mutation_p.F72V|MUC4_uc011btj.1_Missense_Mutation_p.F249V|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Missense_Mutation_p.F17V|MUC4_uc011btm.1_Missense_Mutation_p.F197V|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Missense_Mutation_p.F272V|MUC4_uc003fvp.2_Missense_Mutation_p.F221V|MUC4_uc010hzu.1_Missense_Mutation_p.F1120V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	1265	NIDO.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACCTAGAGAAGCCCATGAGC	0.632												
C3orf43	255798	broad.mit.edu	37	3	196236458	196236458	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:196236458G>A	uc003fws.2	-	2	290	c.133C>T	c.(133-135)CAT>TAT	p.H45Y	C3orf43_uc003fwr.2_Missense_Mutation_p.H37Y	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	45						integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		TTACTATGATGTTCGAATTTC	0.443												
C3orf43	255798	broad.mit.edu	37	3	196242058	196242058	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:196242058A>G	uc003fws.2	-	1	180	c.23T>C	c.(22-24)CTG>CCG	p.L8P	C3orf43_uc003fwr.2_5'UTR	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	hypothetical protein LOC255798	8	Potential.					integral to membrane				ovary(1)	1	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)		CAAGGATATCAGGGTTGTGGT	0.328												
MFI2	4241	broad.mit.edu	37	3	196735805	196735805	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:196735805C>T	uc003fxk.3	-	12	1670	c.1557G>A	c.(1555-1557)GTG>GTA	p.V519V		NM_005929	NP_005920	P08582	TRFM_HUMAN	melanoma-associated antigen p97 isoform 1	519	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding				0	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TGTTCACGGGCACGCAGCTGG	0.642												
BDH1	622	broad.mit.edu	37	3	197239184	197239184	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:197239184C>T	uc003fxr.2	-	8	1016	c.614G>A	c.(613-615)CGC>CAC	p.R205H	BDH1_uc003fxs.2_Missense_Mutation_p.R205H|BDH1_uc003fxt.2_Missense_Mutation_p.R118H|BDH1_uc003fxu.2_Missense_Mutation_p.R205H	NM_203314	NP_976059	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	205					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			ovary(1)	1	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	GTACGGGGAGCGGGCCGGGTT	0.617												
KIAA0226	9711	broad.mit.edu	37	3	197444992	197444992	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:197444992G>A	uc003fyc.2	-	2	258	c.75C>T	c.(73-75)CAC>CAT	p.H25H	KIAA0226_uc003fyd.3_5'UTR|KIAA0226_uc003fyf.2_Intron|KIAA0226_uc003fyg.2_Silent_p.H18H	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	25					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCAACTGCCAGTGCTCCCTCC	0.502												
ZNF721	170960	broad.mit.edu	37	4	437305	437305	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:437305G>A	uc003gag.2	-	3	1642	c.951C>T	c.(949-951)TCC>TCT	p.S317S	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.S349S|ZNF721_uc010ibe.2_Silent_p.S305S	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	317						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						AAAGGTTTGCGGACTGTCTAA	0.408												
GAK	2580	broad.mit.edu	37	4	871440	871440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:871440G>A	uc003gbm.3	-	16	2018	c.1819C>T	c.(1819-1821)CGT>TGT	p.R607C	GAK_uc003gbn.3_Missense_Mutation_p.R528C|GAK_uc010ibk.1_Missense_Mutation_p.R501C|GAK_uc003gbl.3_Missense_Mutation_p.R471C	NM_005255	NP_005246	O14976	GAK_HUMAN	cyclin G associated kinase	607	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)|skin(1)	4				Colorectal(103;0.219)		CTGGCCACACGCTCGTCCCCC	0.647												
IDUA	3425	broad.mit.edu	37	4	997815	997815	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:997815C>T	uc003gby.2	+	13	1831	c.1743C>T	c.(1741-1743)TAC>TAT	p.Y581Y	IDUA_uc003gbz.2_RNA|IDUA_uc003gca.2_Silent_p.Y603Y	NM_000203	NP_000194	P35475	IDUA_HUMAN	alpha-L-iduronidase precursor	581					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	TGTGGACATACGAGATCCAGT	0.622												
KIAA1530	57654	broad.mit.edu	37	4	1348915	1348915	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1348915G>A	uc003gde.3	+	7	1505	c.1058G>A	c.(1057-1059)CGC>CAC	p.R353H		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	353											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CGCTTCACCCGCGTCGGGACC	0.617												
LETM1	3954	broad.mit.edu	37	4	1843332	1843332	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1843332G>A	uc003gdv.2	-	3	633	c.336C>T	c.(334-336)CGC>CGT	p.R112R	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Silent_p.R112R	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	112					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CGCGAACAGGGCGCGAAGAGT	0.602												
WHSC2	7469	broad.mit.edu	37	4	1989662	1989662	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1989662C>T	uc003gem.2	-	4	890	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	WHSC2_uc003gek.2_5'Flank|WHSC2_uc003gel.2_Missense_Mutation_p.R131Q|WHSC2_uc003gen.2_Missense_Mutation_p.R71Q|MIR943_hsa-mir-943|MI0005768_5'Flank	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Wolf-Hirschhorn syndrome candidate 2 protein	206	HDAg-like.				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GTCCATCTTCCGCAGCAGCCC	0.657												
RGS12	6002	broad.mit.edu	37	4	3432560	3432560	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:3432560C>T	uc003ggw.2	+	17	4896	c.3992C>T	c.(3991-3993)ACG>ATG	p.T1331M	RGS12_uc003ggv.2_Missense_Mutation_p.T1331M|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.T683M|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.T673M|RGS12_uc010icv.2_Missense_Mutation_p.T530M	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	1331						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCATCCAGACGGTGGAGGAT	0.687												
LRPAP1	4043	broad.mit.edu	37	4	3516517	3516517	+	Missense_Mutation	SNP	C	C	T	rs148077268	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:3516517C>T	uc003ghi.2	-	7	1058	c.973G>A	c.(973-975)GCC>ACC	p.A325T		NM_002337	NP_002328	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein	325	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCCAGCAGGGCGTGCTTCTCG	0.677												
JAKMIP1	152789	broad.mit.edu	37	4	6107609	6107609	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6107609A>G	uc003giu.3	-	3	491	c.215T>C	c.(214-216)CTC>CCC	p.L72P	JAKMIP1_uc010idb.1_Missense_Mutation_p.L72P|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.L72P|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.L72P|JAKMIP1_uc010ide.2_Missense_Mutation_p.L72P	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	72	Potential.|Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						CTTGGCCTTGAGCTCCGAAAT	0.682												
WFS1	7466	broad.mit.edu	37	4	6292940	6292940	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6292940C>T	uc003giy.2	+	5	643	c.477C>T	c.(475-477)AAC>AAT	p.N159N	WFS1_uc003gix.2_Silent_p.N159N|WFS1_uc003giz.2_Translation_Start_Site	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	159					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		CGTCCGAGAACGAACGGGAGG	0.602												
KIAA0232	9778	broad.mit.edu	37	4	6882514	6882514	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6882514G>A	uc003gjr.3	+	10	4472	c.4009G>A	c.(4009-4011)GTG>ATG	p.V1337M	KIAA0232_uc003gjq.3_Missense_Mutation_p.V1337M	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	1337							ATP binding			ovary(2)	2						TTAATCTTAGGTGTCTTCTGT	0.393												
SH3TC1	54436	broad.mit.edu	37	4	8218845	8218845	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8218845G>A	uc003gkv.3	+	7	891	c.790G>A	c.(790-792)GAG>AAG	p.E264K	SH3TC1_uc003gkw.3_Missense_Mutation_p.E188K|SH3TC1_uc003gkx.3_Intron	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	264							binding			large_intestine(2)|pancreas(1)	3						CGTGTCCTCCGAGGAGGTGGC	0.662												
SH3TC1	54436	broad.mit.edu	37	4	8242678	8242678	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8242678G>A	uc003gkv.3	+	18	4108	c.4007G>A	c.(4006-4008)CGC>CAC	p.R1336H	SH3TC1_uc003gkw.3_Missense_Mutation_p.R1260H|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1336							binding			large_intestine(2)|pancreas(1)	3						AGCCACCCTCGCTGAGGACAG	0.647												
ACOX3	8310	broad.mit.edu	37	4	8396369	8396369	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8396369G>A	uc010idk.2	-	10	1302	c.1157C>T	c.(1156-1158)TCG>TTG	p.S386L	ACOX3_uc003glc.3_Missense_Mutation_p.S386L|ACOX3_uc003gld.3_Missense_Mutation_p.S386L|ACOX3_uc003gle.1_Missense_Mutation_p.S291L	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	386					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						GCGGTCTCCCGATGCAAGTCC	0.542												
ACOX3	8310	broad.mit.edu	37	4	8398742	8398742	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8398742A>G	uc010idk.2	-	9	1123	c.978T>C	c.(976-978)GCT>GCC	p.A326A	ACOX3_uc003glc.3_Silent_p.A326A|ACOX3_uc003gld.3_Silent_p.A326A|ACOX3_uc003gle.1_Silent_p.A231A	NM_003501	NP_003492	O15254	ACOX3_HUMAN	acyl-Coenzyme A oxidase 3 isoform a	326					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			central_nervous_system(1)	1						AGAAGCGAAGAGCGATGGCCA	0.582												
GPR78	27201	broad.mit.edu	37	4	8582941	8582941	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:8582941G>A	uc003glk.2	+	1	651	c.232G>A	c.(232-234)GCA>ACA	p.A78T	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	78	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						GGCGCCCGGCGCATGCCAAGT	0.692												
SLC34A2	10568	broad.mit.edu	37	4	25671387	25671387	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:25671387T>G	uc003grr.2	+	7	835	c.754T>G	c.(754-756)TTC>GTC	p.F252V	SLC34A2_uc003grs.2_Missense_Mutation_p.F251V|SLC34A2_uc010iev.2_Missense_Mutation_p.F251V	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	252	Extracellular (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				AGTGGAGAGCTTCCACTTCAA	0.493												
STIM2	57620	broad.mit.edu	37	4	26997036	26997036	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:26997036T>C	uc003gsh.3	+	4	910	c.694T>C	c.(694-696)TTG>CTG	p.L232L	STIM2_uc003gsg.3_Silent_p.L232L|STIM2_uc010iex.2_Silent_p.L232L	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	145	SAM.|Extracellular (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				TCTTCAGTGGTTGATAGAGTT	0.368												
PTTG2	10744	broad.mit.edu	37	4	37962494	37962494	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:37962494A>G	uc011bye.1	+	1	439	c.439A>G	c.(439-441)ATG>GTG	p.M147V	TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	147					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding				0						AGTGCCTCTCATGATCCTTGA	0.488												
TBC1D1	23216	broad.mit.edu	37	4	38016406	38016406	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:38016406A>G	uc003gtb.2	+	3	1037	c.694A>G	c.(694-696)ATG>GTG	p.M232V	TBC1D1_uc011byd.1_Missense_Mutation_p.M232V|TBC1D1_uc010ifd.2_Intron|TBC1D1_uc011byf.1_Missense_Mutation_p.M103V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family,	232						nucleus	Rab GTPase activator activity			ovary(1)	1						GCGCAGGCCCATGCGCAAGTC	0.692												
KLF3	51274	broad.mit.edu	37	4	38690414	38690414	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:38690414G>A	uc003gth.3	+	3	598	c.266G>A	c.(265-267)CGG>CAG	p.R89Q	KLF3_uc003gtg.2_Missense_Mutation_p.R89Q	NM_016531	NP_057615	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	89	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)	2						TCCTCACACCGGAGAGCCTCG	0.602												
ATP8A1	10396	broad.mit.edu	37	4	42545946	42545946	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:42545946G>A	uc003gwr.2	-	20	1942	c.1710C>T	c.(1708-1710)TAC>TAT	p.Y570Y	ATP8A1_uc003gws.2_Silent_p.Y555Y|ATP8A1_uc011byz.1_Silent_p.Y555Y	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	570	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)	CTCCTTTGCAGTAGAGTCGTA	0.328												
GUF1	60558	broad.mit.edu	37	4	44690074	44690074	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:44690074A>G	uc003gww.3	+	9	1196	c.989A>G	c.(988-990)GAA>GGA	p.E330G	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	330					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						GATGTCACTGAAGCGCAAATA	0.388												
CORIN	10699	broad.mit.edu	37	4	47746581	47746581	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:47746581T>C	uc003gxm.2	-	5	730	c.637A>G	c.(637-639)AGG>GGG	p.R213G	CORIN_uc011bzf.1_Missense_Mutation_p.R74G|CORIN_uc011bzg.1_Missense_Mutation_p.R146G|CORIN_uc011bzh.1_Missense_Mutation_p.R213G|CORIN_uc011bzi.1_Missense_Mutation_p.R213G|CORIN_uc003gxn.3_Missense_Mutation_p.R213G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	213	Extracellular (Potential).|FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2						CAGAAGGACCTACAGGGCAGG	0.408												
KDR	3791	broad.mit.edu	37	4	55971024	55971024	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:55971024C>T	uc003has.2	-	13	2075	c.1773G>A	c.(1771-1773)CTG>CTA	p.L591L	KDR_uc003hat.1_Silent_p.L591L|KDR_uc011bzx.1_Silent_p.L591L	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	591	Ig-like C2-type 6.|Extracellular (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CATGGATTGGCAGAGGCTGTG	0.483			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
EXOC1	55763	broad.mit.edu	37	4	56724584	56724584	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:56724584A>G	uc003hbe.1	+	2	253	c.95A>G	c.(94-96)AAG>AGG	p.K32R	EXOC1_uc003hbf.1_Missense_Mutation_p.K32R|EXOC1_uc003hbg.1_Missense_Mutation_p.K32R	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	32					exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					GCAGGAAAAAAGAAAAAGAAC	0.338												
LPHN3	23284	broad.mit.edu	37	4	62910182	62910182	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:62910182T>C	uc010ihh.2	+	22	3698	c.3525T>C	c.(3523-3525)CGT>CGC	p.R1175R	LPHN3_uc003hcq.3_Silent_p.R1175R|LPHN3_uc003hct.2_Silent_p.R559R	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	1153	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						GCCGAATCCGTAGAATGTGGA	0.383												
TMPRSS11D	9407	broad.mit.edu	37	4	68688179	68688179	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:68688179C>T	uc003hdq.2	-	10	1198	c.1133G>A	c.(1132-1134)CGG>CAG	p.R378Q	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.R159Q|TMPRSS11D_uc011caj.1_Missense_Mutation_p.R261Q	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	378	Peptidase S1.|Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						CCAAAGCCGCCGTGAGTCTTC	0.468												
UGT2A1	10941	broad.mit.edu	37	4	70513145	70513145	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:70513145A>G	uc003hem.3	-	1	281	c.218T>C	c.(217-219)ATA>ACA	p.I73T	UGT2A1_uc011caq.1_Missense_Mutation_p.I73T|UGT2A1_uc010ihu.2_Missense_Mutation_p.I73T|UGT2A1_uc010iht.2_Missense_Mutation_p.I73T	NM_006798	NP_006789	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family,	73	Extracellular (Potential).				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity|glucuronosyltransferase activity			ovary(1)	1						CACCCTATATATTTCAAATGT	0.403												
ANKRD17	26057	broad.mit.edu	37	4	74027008	74027008	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:74027008C>T	uc003hgp.2	-	3	722	c.605G>A	c.(604-606)CGG>CAG	p.R202Q	ANKRD17_uc003hgo.2_Missense_Mutation_p.R89Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.R202Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.R202Q	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	202					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)			TGTCAACCTCCGAAGTACTTC	0.458												
HNRNPD	3184	broad.mit.edu	37	4	83276455	83276455	+	Splice_Site	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:83276455A>G	uc003hmm.1	-	8	1416	c.1098_splice	c.e8+1		HNRNPD_uc003hml.1_Splice_Site|HNRNPD_uc003hmn.1_Splice_Site|HNRNPD_uc003hmo.1_Splice_Site|HNRNPD_uc003hmp.1_Splice_Site|HNRNPD_uc010ijr.1_3'UTR|HNRNPD_uc011cci.1_3'UTR	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D						nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding				0						TTTAGAACATACCTGTTGGGG	0.333												
WDFY3	23001	broad.mit.edu	37	4	85678171	85678171	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:85678171C>T	uc003hpd.2	-	33	5740	c.5332G>A	c.(5332-5334)GCC>ACC	p.A1778T		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1778						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAAACAAGGCCATGAGGAGA	0.502												
DMP1	1758	broad.mit.edu	37	4	88583826	88583826	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:88583826G>A	uc003hqv.2	+	6	1000	c.896G>A	c.(895-897)AGC>AAC	p.S299N	DMP1_uc003hqw.2_Missense_Mutation_p.S283N	NM_004407	NP_004398	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1 isoform 1	299					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			pancreas(1)|skin(1)	2		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ACAGAAAACAGCAACTCCAGA	0.473												
PKD2	5311	broad.mit.edu	37	4	88989084	88989084	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:88989084G>A	uc003hre.2	+	13	2459	c.2393G>A	c.(2392-2394)CGT>CAT	p.R798H	PKD2_uc011cdf.1_Missense_Mutation_p.R216H|PKD2_uc011cdg.1_Missense_Mutation_p.R124H|PKD2_uc011cdh.1_Missense_Mutation_p.R21H	NM_000297	NP_000288	Q13563	PKD2_HUMAN	polycystin 2	798	Cytoplasmic (Potential).					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			skin(1)	1		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCTTTACCACGTCCCATGAGC	0.527												
HERC6	55008	broad.mit.edu	37	4	89314657	89314657	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:89314657C>T	uc011cdi.1	+	5	865	c.682C>T	c.(682-684)CTC>TTC	p.L228F	HERC6_uc003hrp.1_RNA|HERC6_uc011cdj.1_Missense_Mutation_p.L228F|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	hect domain and RLD 6 isoform 1	228	RCC1 4.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			lung(3)|ovary(1)|kidney(1)	5		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAACAAGCCTCTCTCAGTCGG	0.388												
HERC5	51191	broad.mit.edu	37	4	89408222	89408222	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:89408222C>T	uc003hrt.2	+	15	2007	c.1854C>T	c.(1852-1854)GAC>GAT	p.D618D	HERC5_uc011cdm.1_Silent_p.D256D	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	618					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		ATTTTTAGGACGCTTCAGAAA	0.338												
HERC3	8916	broad.mit.edu	37	4	89574214	89574214	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:89574214G>A	uc003hrw.1	+	6	824	c.658G>A	c.(658-660)GGG>AGG	p.G220R	HERC3_uc003hrv.2_Missense_Mutation_p.G220R|HERC3_uc011cdn.1_Missense_Mutation_p.G102R	NM_014606	NP_055421	Q15034	HERC3_HUMAN	hect domain and RLD 3	220	RCC1 5.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			lung(2)|prostate(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAATAATGCCGGGCAGCTAGG	0.438												
PDHA2	5161	broad.mit.edu	37	4	96761598	96761598	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:96761598C>T	uc003htr.3	+	1	360	c.297C>T	c.(295-297)TGC>TGT	p.C99C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	pyruvate dehydrogenase E1 alpha 2 precursor	99					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)	1		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AAGCTTGTTGCGTGGGCCTTG	0.517												
NPNT	255743	broad.mit.edu	37	4	106863786	106863786	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:106863786T>C	uc003hya.2	+	8	1291	c.1086T>C	c.(1084-1086)AGT>AGC	p.S362S	NPNT_uc011cfc.1_Silent_p.S379S|NPNT_uc011cfd.1_Silent_p.S392S|NPNT_uc011cfe.1_Silent_p.S392S|NPNT_uc010ilt.1_Silent_p.S362S|NPNT_uc011cff.1_Silent_p.S362S|NPNT_uc010ilu.1_Silent_p.S258S	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	362	Pro-rich.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CAGCTGCCAGTACACCTCCAG	0.507												
PAPSS1	9061	broad.mit.edu	37	4	108615150	108615150	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:108615150G>A	uc003hyk.2	-	3	272	c.188C>T	c.(187-189)GCG>GTG	p.A63V	PAPSS1_uc011cfh.1_RNA	NM_005443	NP_005434	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase	63	Adenylyl-sulfate kinase.|ATP (Potential).				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		AGTCTTTCCCGCTCCAGACAA	0.368												
LEF1	51176	broad.mit.edu	37	4	109000672	109000672	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:109000672T>C	uc003hyt.1	-	7	1476	c.821A>G	c.(820-822)CAC>CGC	p.H274R	LEF1_uc011cfj.1_Missense_Mutation_p.H131R|LEF1_uc011cfk.1_Missense_Mutation_p.H178R|LEF1_uc003hyu.1_Missense_Mutation_p.H246R|LEF1_uc003hyv.1_Missense_Mutation_p.H246R|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'Flank|LEF1_uc003hyw.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	274					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		ACTGTCAGTGTGGGGATGTTC	0.502												
ANK2	287	broad.mit.edu	37	4	114294316	114294316	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:114294316C>T	uc003ibe.3	+	44	11781	c.11681C>T	c.(11680-11682)ACC>ATC	p.T3894I	ANK2_uc003ibd.3_Missense_Mutation_p.T1800I|ANK2_uc003ibf.3_Missense_Mutation_p.T1809I|ANK2_uc011cgc.1_Missense_Mutation_p.T985I|ANK2_uc003ibg.3_Missense_Mutation_p.T824I|ANK2_uc003ibh.3_Missense_Mutation_p.T514I|ANK2_uc011cgd.1_Missense_Mutation_p.T1196I|ANK2_uc010imr.2_5'Flank|ANK2_uc010ims.2_5'Flank	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3861					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGACACACCGTGGTAAAG	0.388												
CAMK2D	817	broad.mit.edu	37	4	114378718	114378718	+	Silent	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:114378718A>C	uc003ibi.2	-	17	2065	c.1206T>G	c.(1204-1206)GCT>GCG	p.A402A	CAMK2D_uc003ibj.2_Silent_p.A402A|CAMK2D_uc003ibk.2_Silent_p.A402A|CAMK2D_uc003ibo.3_Silent_p.A436A|CAMK2D_uc003ibm.2_Silent_p.A416A|CAMK2D_uc003ibn.2_Silent_p.A413A|CAMK2D_uc003ibl.2_Silent_p.A402A	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II	402					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			ovary(1)	1		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTTTGGACAAAGCTGAAAGAG	0.353												
TRPC3	7222	broad.mit.edu	37	4	122820840	122820840	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:122820840A>G	uc003ieg.2	-	10	2548	c.2474T>C	c.(2473-2475)TTC>TCC	p.F825S	TRPC3_uc010inr.2_Missense_Mutation_p.F697S|TRPC3_uc003ief.2_Missense_Mutation_p.F752S|TRPC3_uc011cgl.1_Missense_Mutation_p.F489S	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	740	Extracellular (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2						AGACTGAGTGAAGAGGTTTAA	0.303												
KIAA1109	84162	broad.mit.edu	37	4	123283310	123283310	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:123283310C>T	uc003ieh.2	+	84	14971	c.14926C>T	c.(14926-14928)CTG>TTG	p.L4976L	KIAA1109_uc003iem.2_Silent_p.L1332L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4976					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						CATGGATCCACTGGACAAGGT	0.378												
FGF2	2247	broad.mit.edu	37	4	123748453	123748453	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:123748453C>T	uc003iev.1	+	1	591	c.523C>T	c.(523-525)CGC>TGC	p.R175C		NM_002006	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2	175					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|lung(1)|central_nervous_system(1)	3					Pentosan Polysulfate(DB00686)	CTTCTTCCTGCGCATCCACCC	0.667												
PCDH10	57575	broad.mit.edu	37	4	134073077	134073077	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:134073077G>A	uc003iha.2	+	1	2608	c.1782G>A	c.(1780-1782)GCG>GCA	p.A594A	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.A594A	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	594	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCGCTCGGCGGAGCCGGGTT	0.657												
UCP1	7350	broad.mit.edu	37	4	141483361	141483361	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:141483361C>T	uc011chj.1	-	5	871	c.795G>A	c.(793-795)ACG>ACA	p.T265T	UCP1_uc011chk.1_Silent_p.T264T	NM_021833	NP_068605	P25874	UCP1_HUMAN	uncoupling protein 1	265	Solcar 3.				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	all_hematologic(180;0.162)					TGAAGAAAGCCGTTGGTCCTT	0.433												
OTUD4	54726	broad.mit.edu	37	4	146059083	146059083	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:146059083C>T	uc003ika.3	-	21	2787	c.2649G>A	c.(2647-2649)ACG>ACA	p.T883T	OTUD4_uc003ijz.3_Silent_p.T882T	NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	OTU domain containing 4 protein isoform 3	947							protein binding			ovary(2)|breast(1)	3	all_hematologic(180;0.151)					AAGCCAATGCCGTATCTGCCT	0.517												
SLC10A7	84068	broad.mit.edu	37	4	147215169	147215169	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:147215169T>C	uc010ioz.2	-	8	888	c.634A>G	c.(634-636)ATG>GTG	p.M212V	SLC10A7_uc003ikr.2_Missense_Mutation_p.M212V|SLC10A7_uc010ipa.2_Missense_Mutation_p.M199V|SLC10A7_uc003iks.2_Intron	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	212	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)					TAGATGATCATGAGGAGTACA	0.403												
NR3C2	4306	broad.mit.edu	37	4	149357438	149357438	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:149357438G>A	uc003ilj.3	-	2	909	c.575C>T	c.(574-576)CCG>CTG	p.P192L	NR3C2_uc003ilk.3_Missense_Mutation_p.P192L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	192	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCAAACAGACGGGCTTTTCTC	0.522												
LRBA	987	broad.mit.edu	37	4	151199033	151199033	+	Missense_Mutation	SNP	G	G	A	rs143351602	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:151199033G>A	uc010ipj.2	-	57	8947	c.8473C>T	c.(8473-8475)CGG>TGG	p.R2825W	LRBA_uc010ipi.2_Missense_Mutation_p.R347W|LRBA_uc003ils.3_Missense_Mutation_p.R720W|LRBA_uc003ilt.3_Missense_Mutation_p.R1473W|LRBA_uc003ilu.3_Missense_Mutation_p.R2813W|LRBA_uc003ilr.3_Missense_Mutation_p.R245W	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2825	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)					GCCATGGCCCGGATTCCAGCG	0.502												
FGA	2243	broad.mit.edu	37	4	155507087	155507087	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:155507087G>A	uc003iod.1	-	5	1552	c.1494C>T	c.(1492-1494)GGC>GGT	p.G498G	FGA_uc003ioe.1_Silent_p.G498G|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	498	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGACAATGTGCCTAAATCCA	0.483												
FGG	2266	broad.mit.edu	37	4	155527932	155527932	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:155527932A>C	uc003ioj.2	-	8	1195	c.1054T>G	c.(1054-1056)TGT>GGT	p.C352G	FGG_uc003iog.2_Missense_Mutation_p.C352G|FGG_uc003ioh.2_Missense_Mutation_p.C360G|FGG_uc010ipx.2_Missense_Mutation_p.C180G|FGG_uc010ipy.2_Missense_Mutation_p.C63G|FGG_uc003ioi.2_Missense_Mutation_p.C63G|FGG_uc003iok.2_Missense_Mutation_p.C360G	NM_021870	NP_068656	P02679	FIBG_HUMAN	fibrinogen, gamma chain isoform gamma-B	352	|Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding				0	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGTTCAGCACAGTTGCCTTCA	0.423												
RXFP1	59350	broad.mit.edu	37	4	159533352	159533352	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:159533352C>T	uc003ipz.2	+	7	689	c.607C>T	c.(607-609)CTG>TTG	p.L203L	RXFP1_uc010iqj.1_Silent_p.L32L|RXFP1_uc011cja.1_Silent_p.L122L|RXFP1_uc010iqo.2_Silent_p.L203L|RXFP1_uc011cjb.1_Silent_p.L149L|RXFP1_uc010iqk.2_Silent_p.L71L|RXFP1_uc011cjc.1_Silent_p.L122L|RXFP1_uc011cjd.1_Silent_p.L122L|RXFP1_uc010iql.2_Silent_p.L71L|RXFP1_uc011cje.1_Silent_p.L230L|RXFP1_uc010iqm.2_Silent_p.L170L|RXFP1_uc011cjf.1_Silent_p.L73L|RXFP1_uc010iqn.2_Silent_p.L149L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	203	LRR 3.|Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ACTAGAATGGCTGTATGTTTA	0.313												
PALLD	23022	broad.mit.edu	37	4	169433473	169433473	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:169433473T>C	uc011cjx.1	+	2	1029	c.818T>C	c.(817-819)TTC>TCC	p.F273S	PALLD_uc003iru.2_Missense_Mutation_p.F273S	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	273	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCACCTCGATTCATCCAAAAG	0.547									Pancreatic_Cancer_Familial_Clustering_of			
SH3RF1	57630	broad.mit.edu	37	4	170041971	170041971	+	Silent	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:170041971T>G	uc003isa.1	-	8	1851	c.1516A>C	c.(1516-1518)AGG>CGG	p.R506R	SH3RF1_uc010irc.1_Silent_p.R206R	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	506	SH3 3.|Interaction with AKT2 (By similarity).					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			breast(2)|lung(1)	3		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AAACCATACCTTGTGACTGGT	0.413												
SPATA4	132851	broad.mit.edu	37	4	177116614	177116614	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:177116614C>A	uc003iuo.1	-	1	209	c.100G>T	c.(100-102)GGG>TGG	p.G34W		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	34					apoptosis|spermatogenesis						0		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TTAGGCCTCCCTCGGATGGGA	0.582												
LRP2BP	55805	broad.mit.edu	37	4	186294142	186294142	+	Missense_Mutation	SNP	C	C	T	rs140807270		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:186294142C>T	uc003ixj.1	-	6	1483	c.671G>A	c.(670-672)CGG>CAG	p.R224Q	LRP2BP_uc003ixk.1_Missense_Mutation_p.R198Q|LRP2BP_uc011ckr.1_Missense_Mutation_p.R224Q	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	224	Sel1-like 4.					cytoplasm	protein binding				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CGTATCCTGCCGGATGCCTTG	0.488												
TRIML1	339976	broad.mit.edu	37	4	189061103	189061103	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:189061103G>A	uc003izm.1	+	1	506	c.391G>A	c.(391-393)GCT>ACT	p.A131T		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	131					multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTCCAGCGAGGCTGAGGAGCA	0.572												
PLEKHG4B	153478	broad.mit.edu	37	5	169524	169524	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:169524C>T	uc003jak.2	+	12	2528	c.2478C>T	c.(2476-2478)TAC>TAT	p.Y826Y		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	826	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCTTAGGATACGTCATTGACA	0.537												
LRRC14B	389257	broad.mit.edu	37	5	192197	192197	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:192197G>A	uc003jal.1	+	1	572	c.544G>A	c.(544-546)GCC>ACC	p.A182T		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	182										skin(1)	1						AGCGGGCCCGGCCCCTCTGCG	0.741												
SDHA	6389	broad.mit.edu	37	5	240501	240501	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:240501C>T	uc003jao.3	+	11	1576	c.1461C>T	c.(1459-1461)AAC>AAT	p.N487N	SDHA_uc011clv.1_Silent_p.N487N|SDHA_uc011clw.1_Silent_p.N439N|SDHA_uc003jap.3_Silent_p.N487N|SDHA_uc003jaq.3_Silent_p.N262N|SDHA_uc003jar.3_Silent_p.N81N	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	487					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TTAAACCAAACGCTGGGGAAG	0.368									Familial_Paragangliomas			
AHRR	57491	broad.mit.edu	37	5	434622	434622	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:434622C>T	uc003jav.2	+	12	1877	c.1833C>T	c.(1831-1833)CAC>CAT	p.H611H	AHRR_uc003jaw.2_Silent_p.H589H|AHRR_uc010isy.2_Silent_p.H439H|AHRR_uc010isz.2_Silent_p.H589H|AHRR_uc003jax.2_Silent_p.H352H|AHRR_uc003jay.2_Silent_p.H449H|AHRR_uc003jaz.2_Silent_p.H210H	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	593	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACCTGGGGCACGGCGTGCGGG	0.667												
IRX4	50805	broad.mit.edu	37	5	1878803	1878803	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:1878803G>A	uc003jcz.2	-	5	959	c.840C>T	c.(838-840)CAC>CAT	p.H280H	IRX4_uc011cmf.1_Silent_p.H141H	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	280					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		CGTCCAGGGAGTGGAAGGGCG	0.711												
TRIO	7204	broad.mit.edu	37	5	14488310	14488310	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:14488310C>T	uc003jff.2	+	48	7579	c.7573C>T	c.(7573-7575)CGC>TGC	p.R2525C	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.R2174C	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2525					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					GGATACTGACCGCATGAGCAC	0.741												
ANKH	56172	broad.mit.edu	37	5	14746035	14746035	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:14746035G>A	uc003jfm.3	-	7	1190	c.859C>T	c.(859-861)CAC>TAC	p.H287Y	ANKH_uc003jfl.3_5'UTR	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	287	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						TATGGCATGTGACCCACAGGG	0.532												
CDH18	1016	broad.mit.edu	37	5	19612580	19612580	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:19612580T>A	uc003jgc.2	-	5	1151	c.774A>T	c.(772-774)TTA>TTT	p.L258F	CDH18_uc003jgd.2_Missense_Mutation_p.L258F|CDH18_uc011cnm.1_Missense_Mutation_p.L258F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	258	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGACATCGGTTAAGGTGATGT	0.393												
CDH18	1016	broad.mit.edu	37	5	19747115	19747115	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:19747115A>G	uc003jgc.2	-	3	836	c.459T>C	c.(457-459)AAT>AAC	p.N153N	CDH18_uc003jgd.2_Silent_p.N153N|CDH18_uc011cnm.1_Silent_p.N153N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	153	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GAGCGTTGTCATTGATGTCTT	0.383												
PRDM9	56979	broad.mit.edu	37	5	23526448	23526448	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:23526448A>G	uc003jgo.2	+	11	1433	c.1251A>G	c.(1249-1251)CCA>CCG	p.P417P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	417					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						AGAACTTCCCAGGACCATCTG	0.483										HNSCC(3;0.000094)		
RXFP3	51289	broad.mit.edu	37	5	33938198	33938198	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:33938198C>T	uc003jic.1	+	1	1710	c.1353C>T	c.(1351-1353)GGC>GGT	p.G451G		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	451	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						ACCCACCTGGCGTCGTGGTCT	0.597												
EGFLAM	133584	broad.mit.edu	37	5	38406315	38406315	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:38406315A>G	uc003jlc.1	+	7	1124	c.800A>G	c.(799-801)GAC>GGC	p.D267G	EGFLAM_uc003jlb.1_Missense_Mutation_p.D267G|EGFLAM_uc003jle.1_Missense_Mutation_p.D33G|EGFLAM_uc003jlf.1_Intron	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	267						cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TTTGAAGACGACTTAGATTTG	0.458												
RICTOR	253260	broad.mit.edu	37	5	38975690	38975690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:38975690G>A	uc003jlp.2	-	10	862	c.838C>T	c.(838-840)CGA>TGA	p.R280*	RICTOR_uc003jlo.2_Nonsense_Mutation_p.R280*|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Nonsense_Mutation_p.R264*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	280					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)					GCTAGAAATCGTGCTTCTCTG	0.398												
HEATR7B2	133558	broad.mit.edu	37	5	41004501	41004501	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:41004501C>T	uc003jmj.3	-	37	4631	c.4141G>A	c.(4141-4143)GTG>ATG	p.V1381M	HEATR7B2_uc003jmi.3_Missense_Mutation_p.V936M	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1381	HEAT 15.						binding			ovary(6)|central_nervous_system(2)	8						TAGAAGCTCACGTCTCGGTCT	0.463												
C5orf51	285636	broad.mit.edu	37	5	41904537	41904537	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:41904537T>C	uc003jmo.2	+	1	68	c.68T>C	c.(67-69)ATA>ACA	p.I23T		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	hypothetical protein LOC285636	23											0						CAGGCCCACATACAGCAACTT	0.657												
ZNF131	7690	broad.mit.edu	37	5	43161931	43161931	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:43161931A>G	uc011cpw.1	+	5	988	c.952A>G	c.(952-954)AGT>GGT	p.S318G	ZNF131_uc010ivl.1_Missense_Mutation_p.S284G|ZNF131_uc003jnj.3_Missense_Mutation_p.S39G|ZNF131_uc003jnk.2_Missense_Mutation_p.S284G|ZNF131_uc003jnn.3_Missense_Mutation_p.S39G|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	318						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						AGGTGGAGTCAGTAAGAAGCA	0.373												
MGC42105	167359	broad.mit.edu	37	5	43245938	43245938	+	Missense_Mutation	SNP	C	C	T	rs55664335		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:43245938C>T	uc003jno.2	+	2	942	c.61C>T	c.(61-63)CGG>TGG	p.R21W		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	serine/threonine-protein kinase NIM1	21			R -> W.				ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						CCGGTGGGATCGGCGCGACAG	0.602												
NDUFS4	4724	broad.mit.edu	37	5	52954391	52954391	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:52954391T>G	uc003jpe.2	+	4	389	c.361T>G	c.(361-363)TTA>GTA	p.L121V		NM_002495	NP_002486	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4	121					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)	1		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	GGCTGATCCCTTATCCAACAT	0.303												
HTR1A	3350	broad.mit.edu	37	5	63256825	63256825	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:63256825C>T	uc011cqt.1	-	1	722	c.722G>A	c.(721-723)CGC>CAC	p.R241H		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	241	Cytoplasmic (By similarity).				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			ovary(2)|pancreas(2)	4		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGCTCCATGGCGGGTGTCCGC	0.627												
NLN	57486	broad.mit.edu	37	5	65118659	65118659	+	Silent	SNP	C	C	T	rs148323761		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:65118659C>T	uc003juf.2	+	13	2147	c.2031C>T	c.(2029-2031)GAC>GAT	p.D677D	NLN_uc003jug.2_Silent_p.D506D|NLN_uc010iww.2_Silent_p.D354D	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	neurolysin precursor	677					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(1)	1		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GATCTCTGGACGGCATGGACA	0.418												
ERBB2IP	55914	broad.mit.edu	37	5	65344494	65344494	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:65344494G>A	uc003juk.1	+	19	2097	c.1789_splice	c.e19-1	p.E597_splice	ERBB2IP_uc003juh.1_Splice_Site_p.E593_splice|ERBB2IP_uc003jui.1_Splice_Site_p.E597_splice|ERBB2IP_uc003juj.1_Splice_Site_p.E597_splice|ERBB2IP_uc011cqx.1_Splice_Site_p.E597_splice|ERBB2IP_uc011cqy.1_Splice_Site_p.E597_splice|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Splice_Site_p.E593_splice|ERBB2IP_uc003jul.1_Splice_Site_p.E593_splice	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2						basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTTTTCACTAGGAATCTGAAG	0.308												
MAST4	375449	broad.mit.edu	37	5	66459182	66459182	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:66459182C>T	uc003jut.1	+	28	3676	c.3608C>T	c.(3607-3609)CCG>CTG	p.P1203L	MAST4_uc003juw.2_Missense_Mutation_p.P1131L|MAST4_uc003jux.2_5'Flank	NM_015183	NP_055998	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase	1395						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCCACCTCCCCGCAGCGGTCA	0.667												
MARVELD2	153562	broad.mit.edu	37	5	68715240	68715240	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:68715240C>T	uc003jwq.2	+	2	87	c.28C>T	c.(28-30)CGG>TGG	p.R10W	MARVELD2_uc010ixf.2_Missense_Mutation_p.R10W|MARVELD2_uc003jwr.1_Missense_Mutation_p.R10W|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	10	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATCCAGGAATCGGGACAGGCG	0.463												
MARVELD2	153562	broad.mit.edu	37	5	68716108	68716108	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:68716108C>T	uc003jwq.2	+	2	955	c.896C>T	c.(895-897)GCC>GTC	p.A299V	MARVELD2_uc010ixf.2_Missense_Mutation_p.A299V|MARVELD2_uc003jwr.1_Missense_Mutation_p.A299V|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	299	MARVEL.|Helical; (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ATTAACGTTGCCTTGTTTATT	0.423												
MARVELD2	153562	broad.mit.edu	37	5	68728392	68728392	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:68728392A>G	uc003jwq.2	+	4	1280	c.1221A>G	c.(1219-1221)TCA>TCG	p.S407S	MARVELD2_uc010ixf.2_Silent_p.S395S|MARVELD2_uc003jwr.1_Silent_p.S407S|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	407	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AAAGAGACTCAGAAGTTAATT	0.423												
PAPD4	167153	broad.mit.edu	37	5	78936673	78936673	+	Splice_Site	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:78936673G>A	uc010jae.1	+	6	884	c.466_splice	c.e6-1	p.L156_splice	PAPD4_uc003kgb.2_Splice_Site_p.L156_splice|PAPD4_uc010jaf.1_Splice_Site_p.L156_splice|PAPD4_uc003kga.2_Splice_Site_p.L156_splice|PAPD4_uc003kfz.2_Splice_Site_p.L156_splice	NM_001114393	NP_001107865	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4						histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			ovary(1)	1		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GTGGATTCAAGTTGAGTCAGC	0.328												
CMYA5	202333	broad.mit.edu	37	5	79030432	79030432	+	Silent	SNP	G	G	A	rs142351624	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:79030432G>A	uc003kgc.2	+	2	5916	c.5844G>A	c.(5842-5844)CCG>CCA	p.P1948P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1948						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGTCCTGCCGCATTCTGCTG	0.463												
POU5F2	134187	broad.mit.edu	37	5	93077153	93077153	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:93077153C>T	uc003kkl.1	-	1	157	c.117G>A	c.(115-117)GCG>GCA	p.A39A	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGCCAGGGGCCGCCTGGGTGC	0.682												
CHD1	1105	broad.mit.edu	37	5	98193931	98193931	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:98193931A>G	uc003knf.2	-	34	4888	c.4740T>C	c.(4738-4740)AGT>AGC	p.S1580S	CHD1_uc010jbn.2_Silent_p.S306S	NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1580					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTTTACCATTACTAAAAGAAG	0.368												
FER	2241	broad.mit.edu	37	5	108294935	108294935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:108294935C>T	uc003kop.1	+	13	1927	c.1543C>T	c.(1543-1545)CGA>TGA	p.R515*	FER_uc011cvf.1_RNA|FER_uc011cvg.1_Nonsense_Mutation_p.R340*	NM_005246	NP_005237	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	515	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(2)|stomach(1)|ovary(1)|kidney(1)	5		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAACATGTATCGATTCGAGGG	0.333												
SRP19	6728	broad.mit.edu	37	5	112227602	112227602	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:112227602A>G	uc011cvv.1	+	4	596	c.341A>G	c.(340-342)GAA>GGA	p.E114G	SRP19_uc011cvu.1_Missense_Mutation_p.E99G|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		AAGGCACAAGAAGAATTCAGA	0.224												
DCP2	167227	broad.mit.edu	37	5	112328440	112328440	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:112328440A>C	uc003kqh.2	+	4	603	c.405A>C	c.(403-405)GAA>GAC	p.E135D	DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.E41D	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	DCP2 decapping enzyme	135	Nudix box.|Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding				0		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ATAAAGAAGAAGCTCCTCATG	0.353												
TSSK1B	83942	broad.mit.edu	37	5	112769448	112769448	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:112769448C>A	uc003kqm.2	-	1	1281	c.1089G>T	c.(1087-1089)GAG>GAT	p.E363D	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	363					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GGGCCCGCGTCTCTGGAGGCT	0.592												
COMMD10	51397	broad.mit.edu	37	5	115628184	115628184	+	Nonstop_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:115628184T>C	uc003krt.1	+	7	630	c.607T>C	c.(607-609)TGA>CGA	p.*203R		NM_016144	NP_057228	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	203							protein binding			ovary(1)	1		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		TTCCCTTACATGATGTTTTCG	0.373												
SRFBP1	153443	broad.mit.edu	37	5	121297697	121297697	+	Translation_Start_Site	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:121297697G>T	uc003kst.1	+	1	42	c.-30G>T	c.(-32--28)CAGGC>CATGC			NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TTCACGTGCAGGCAGCGGCGG	0.587												
CSNK1G3	1456	broad.mit.edu	37	5	122911537	122911537	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:122911537G>T	uc003ktm.2	+	6	1272	c.553G>T	c.(553-555)GAT>TAT	p.D185Y	CSNK1G3_uc003ktl.2_Missense_Mutation_p.D185Y|CSNK1G3_uc003ktn.2_Missense_Mutation_p.D185Y|CSNK1G3_uc003kto.2_Missense_Mutation_p.D185Y|CSNK1G3_uc011cwr.1_Missense_Mutation_p.D110Y|CSNK1G3_uc011cws.1_Missense_Mutation_p.D72Y|CSNK1G3_uc010jda.2_Missense_Mutation_p.D185Y	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3 isoform 1	185	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TCACATTATAGATTTTGGTTT	0.363												
MEGF10	84466	broad.mit.edu	37	5	126758366	126758366	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:126758366G>A	uc003kuh.3	+	14	1957	c.1595G>A	c.(1594-1596)GGC>GAC	p.G532D	MEGF10_uc010jdc.1_Missense_Mutation_p.G532D|MEGF10_uc010jdd.1_Missense_Mutation_p.G532D|MEGF10_uc003kui.3_Missense_Mutation_p.G532D	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10 precursor	532	Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				ovary(4)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGCAGGATGGCACGTACGGG	0.582												
P4HA2	8974	broad.mit.edu	37	5	131545995	131545995	+	Missense_Mutation	SNP	G	G	A	rs149593706		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:131545995G>A	uc003kwh.2	-	6	1255	c.691C>T	c.(691-693)CGC>TGC	p.R231C	P4HA2_uc003kwg.2_Missense_Mutation_p.R231C|P4HA2_uc003kwi.2_Missense_Mutation_p.R231C|P4HA2_uc003kwk.2_Missense_Mutation_p.R231C|P4HA2_uc003kwl.2_Missense_Mutation_p.R231C|P4HA2_uc003kwj.2_Missense_Mutation_p.R231C	NM_004199	NP_004190	O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha II subunit isoform 1	231	TPR.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding				0		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AGCAGGCGGCGGGTGAGCTCC	0.597												
CDKL3	51265	broad.mit.edu	37	5	133634344	133634344	+	Nonstop_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:133634344A>G	uc003kzf.3	-	13	1896	c.1777T>C	c.(1777-1779)TAG>CAG	p.*593Q	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_3'UTR	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3 isoform 1	593						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAAGACACTACCAGAAAAAA	0.368												
H2AFY	9555	broad.mit.edu	37	5	134670787	134670787	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:134670787G>A	uc003lam.1	-	9	1208	c.998C>T	c.(997-999)GCC>GTC	p.A333V	uc003laj.1_Intron|H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.A332V|H2AFY_uc003lan.1_Missense_Mutation_p.A330V|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.A161V|H2AFY_uc003las.1_Missense_Mutation_p.A333V|H2AFY_uc003lat.1_Missense_Mutation_p.A332V|H2AFY_uc003lau.1_RNA	NM_138610	NP_613258	O75367	H2AY_HUMAN	H2A histone family, member Y isoform 3	333	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTGGAGATGGCCTTCAGAAT	0.498												
BRD8	10902	broad.mit.edu	37	5	137496755	137496755	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137496755G>T	uc003lcf.1	-	18	2307	c.2252C>A	c.(2251-2253)CCT>CAT	p.P751H	BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Missense_Mutation_p.P530H|BRD8_uc003lcg.2_Missense_Mutation_p.P824H|BRD8_uc003lci.2_Missense_Mutation_p.P754H|BRD8_uc003lch.2_Missense_Mutation_p.P645H|BRD8_uc011cym.1_Missense_Mutation_p.P735H|BRD8_uc010jer.1_Missense_Mutation_p.P720H|BRD8_uc011cyn.1_Missense_Mutation_p.P710H	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	751	Bromo 1.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAATCCATAGGCCTAAAAAA	0.373												
FAM53C	51307	broad.mit.edu	37	5	137681158	137681158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137681158C>T	uc003lcv.2	+	4	1251	c.781C>T	c.(781-783)CGA>TGA	p.R261*	FAM53C_uc003lcw.2_Nonsense_Mutation_p.R261*|FAM53C_uc011cyq.1_RNA|FAM53C_uc011cyr.1_Silent_p.G76G	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	hypothetical protein LOC51307	261										ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCCCTGGCGACCTCGAGG	0.677												
MATR3	9782	broad.mit.edu	37	5	138658374	138658374	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138658374C>T	uc003ldu.2	+	15	2293	c.1866C>T	c.(1864-1866)ACC>ACT	p.T622T	MATR3_uc010jfb.2_Silent_p.T622T|MATR3_uc003ldt.2_Silent_p.T284T|MATR3_uc003ldw.2_Silent_p.T622T|MATR3_uc003ldx.2_Silent_p.T622T|MATR3_uc010jfc.2_Silent_p.T622T|MATR3_uc003ldy.2_Silent_p.T299T|MATR3_uc011czb.1_Silent_p.T334T|MATR3_uc003ldz.2_Silent_p.T622T|MATR3_uc003lea.2_Silent_p.T622T|MATR3_uc003leb.2_Silent_p.T284T|MATR3_uc003lec.2_Silent_p.T299T	NM_199189	NP_954659	P43243	MATR3_HUMAN	matrin 3	622						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAGTTCAACCGAAGGTAAAG	0.408												
DNAJC18	202052	broad.mit.edu	37	5	138762025	138762025	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138762025A>G	uc003len.2	-	4	400	c.395T>C	c.(394-396)GTC>GCC	p.V132A	DNAJC18_uc010jff.2_Intron	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	132	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTGCTCAGGACTGCAAATGC	0.458												
TMEM173	340061	broad.mit.edu	37	5	138860445	138860445	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138860445T>C	uc003lep.2	-	5	701	c.450A>G	c.(448-450)AAA>AAG	p.K150K		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	transmembrane protein 173	150	Extracellular (Potential).			K->R: Abolishes ubiquitination, homodimerization and subsequent production of IFN-beta.	activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			upper_aerodigestive_tract(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAAATTCCCTTTTTCACACA	0.587												
SLC4A9	83697	broad.mit.edu	37	5	139741710	139741710	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:139741710C>T	uc003lfm.2	+	5	777	c.742C>T	c.(742-744)CGG>TGG	p.R248W	SLC4A9_uc003lfj.2_Missense_Mutation_p.R224W|SLC4A9_uc011czg.1_Missense_Mutation_p.R224W|SLC4A9_uc003lfl.2_Missense_Mutation_p.R224W|SLC4A9_uc003lfk.2_Missense_Mutation_p.R224W	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	248	Cytoplasmic (Potential).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGACTGCGGAACCCTGT	0.617												
HARS	3035	broad.mit.edu	37	5	140058700	140058700	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140058700G>A	uc003lgv.2	-	5	491	c.409C>T	c.(409-411)CGG>TGG	p.R137W	HARS_uc003lgu.2_Missense_Mutation_p.R68W|HARS_uc011czm.1_Missense_Mutation_p.R97W|HARS_uc003lgw.2_Missense_Mutation_p.R137W|HARS_uc011czn.1_Missense_Mutation_p.R97W|HARS_uc010jfu.2_Missense_Mutation_p.R137W|HARS_uc011czo.1_Intron|HARS_uc011czp.1_Intron|HARS_uc011czq.1_Intron	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	137					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GCCAAATACCGAGCAAAAGGA	0.478												
PCDHA1	56147	broad.mit.edu	37	5	140166589	140166589	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140166589C>T	uc003lhb.2	+	1	714	c.714C>T	c.(712-714)AAC>AAT	p.N238N	PCDHA1_uc003lha.2_Silent_p.N238N|PCDHA1_uc003lgz.2_Silent_p.N238N	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	238	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAATGATAACGCCCCACTGT	0.488												
PCDHA4	56144	broad.mit.edu	37	5	140188218	140188218	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140188218G>A	uc003lhi.2	+	1	1547	c.1446G>A	c.(1444-1446)GCG>GCA	p.A482A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.A482A|PCDHA4_uc011daa.1_Silent_p.A482A	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGACGCGGACGCGCAGG	0.657												
PCDHA13	56136	broad.mit.edu	37	5	140263395	140263395	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140263395C>T	uc003lif.2	+	1	1542	c.1542C>T	c.(1540-1542)AGC>AGT	p.S514S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S514S|PCDHA13_uc003lid.2_Silent_p.S514S	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	514	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.692												
PCDHAC2	56134	broad.mit.edu	37	5	140346986	140346986	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140346986G>A	uc003lii.2	+	1	875	c.635G>A	c.(634-636)CGT>CAT	p.R212H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.R212H	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	212	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGTAAGGGCCTA	0.617												
PCDHB2	56133	broad.mit.edu	37	5	140475056	140475056	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140475056G>A	uc003lil.2	+	1	820	c.682G>A	c.(682-684)GCC>ACC	p.A228T	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	228	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCGGCACGGCCCTGGTACG	0.587												
PCDHB6	56130	broad.mit.edu	37	5	140531689	140531689	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140531689G>A	uc003lir.2	+	1	1851	c.1851G>A	c.(1849-1851)GCG>GCA	p.A617A	PCDHB6_uc011dah.1_Silent_p.A481A	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	617	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTGTGGGCGCACAATGGCG	0.672												
PCDHB12	56124	broad.mit.edu	37	5	140589778	140589778	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140589778C>T	uc003liz.2	+	1	1488	c.1299C>T	c.(1297-1299)ACC>ACT	p.T433T	PCDHB12_uc011dak.1_Silent_p.T96T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	433	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTAAAAACCGAGCACAACA	0.572												
PCDHB15	56121	broad.mit.edu	37	5	140626740	140626740	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140626740G>T	uc003lje.2	+	1	1594	c.1594G>T	c.(1594-1596)GGC>TGC	p.G532C		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	532	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCGCGTGGGCGCCACAGA	0.667												
PCDHGA4	56111	broad.mit.edu	37	5	140737119	140737119	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140737119T>C	uc003ljq.1	+	1	2352	c.2352T>C	c.(2350-2352)AGT>AGC	p.S784S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGB2_uc003ljs.1_5'Flank|PCDHGA4_uc003ljp.1_Silent_p.S784S|PCDHGB2_uc011dar.1_5'Flank	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	784	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGGAGAGTTGTGAGAAAA	0.488												
PCDHGA5	56110	broad.mit.edu	37	5	140744618	140744618	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140744618C>A	uc003lju.1	+	1	721	c.721C>A	c.(721-723)CTG>ATG	p.L241M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.L241M	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	241	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCCCTGTTCACCCC	0.577												
PCDHGA6	56109	broad.mit.edu	37	5	140753786	140753786	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140753786G>T	uc003ljy.1	+	1	136	c.136G>T	c.(136-138)GGC>TGC	p.G46C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.G46C	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	46	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTTCGTAGGCAACATCGT	0.622												
PCDHGB4	8641	broad.mit.edu	37	5	140769313	140769313	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140769313C>T	uc003lkc.1	+	1	1862	c.1862C>T	c.(1861-1863)ACG>ATG	p.T621M	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T621M	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	621	Extracellular (Potential).|Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCGCACGGGCGAAGTG	0.692												
PCDHGB4	8641	broad.mit.edu	37	5	140769490	140769490	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140769490C>A	uc003lkc.1	+	1	2039	c.2039C>A	c.(2038-2040)TCT>TAT	p.S680Y	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.S680Y	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	680	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGACCCCTCTGACCTCCAG	0.617												
PCDHGB5	56101	broad.mit.edu	37	5	140779420	140779420	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140779420C>T	uc003lkf.1	+	1	1726	c.1726C>T	c.(1726-1728)CGC>TGC	p.R576C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R576C	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	576	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGTGCCGCGCGCTGCAGA	0.672												
PCDHGB6	56100	broad.mit.edu	37	5	140790006	140790006	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140790006G>T	uc003lkj.1	+	1	2237	c.2237G>T	c.(2236-2238)GGG>GTG	p.G746V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.G746V|PCDHGA10_uc011day.1_5'Flank|PCDHGA10_uc003lkl.1_5'Flank	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	746	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGTGAGGGGACTTTGCCT	0.483												
PCDHGA12	26025	broad.mit.edu	37	5	140812120	140812120	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140812120C>T	uc003lkt.1	+	1	1963	c.1794C>T	c.(1792-1794)TCC>TCT	p.S598S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.S598S	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	598	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACTCCGGCCAGAACG	0.711												
PCDH1	5097	broad.mit.edu	37	5	141248291	141248291	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:141248291G>A	uc003llq.2	-	2	863	c.746C>T	c.(745-747)ACC>ATC	p.T249I	PCDH1_uc003llp.2_Missense_Mutation_p.T249I|PCDH1_uc011dbf.1_Missense_Mutation_p.T227I	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	249	Extracellular (Potential).|Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACCTTGATGGTGAGGTCATA	0.617												
RBM27	54439	broad.mit.edu	37	5	145664219	145664219	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:145664219G>A	uc003lnz.3	+	20	3189	c.3023G>A	c.(3022-3024)CGG>CAG	p.R1008Q		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1008					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			central_nervous_system(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGACCGTCGGCTACAGATA	0.373												
POU4F3	5459	broad.mit.edu	37	5	145719823	145719823	+	Missense_Mutation	SNP	G	G	A	rs113824781		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:145719823G>A	uc003loa.2	+	2	922	c.833G>A	c.(832-834)CGC>CAC	p.R278H		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	278	Homeobox.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCGCAAACGCACGTCCATC	0.612												
DPYSL3	1809	broad.mit.edu	37	5	146778699	146778699	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:146778699G>A	uc003lon.1	-	11	1337	c.1227C>T	c.(1225-1227)CTC>CTT	p.L409L	DPYSL3_uc003loo.2_Silent_p.L523L	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	409					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGATGACGAGGTCGCTGT	0.527												
DPYSL3	1809	broad.mit.edu	37	5	146781173	146781173	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:146781173C>T	uc003lon.1	-	9	1008	c.898G>A	c.(898-900)GCA>ACA	p.A300T	DPYSL3_uc003loo.2_Missense_Mutation_p.A414T	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	300					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACAAATGCAGCCGCCTTG	0.572												
PPARGC1B	133522	broad.mit.edu	37	5	149212959	149212959	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:149212959G>A	uc003lrc.2	+	5	1365	c.1323G>A	c.(1321-1323)GAG>GAA	p.E441E	PPARGC1B_uc003lrb.1_Silent_p.E441E|PPARGC1B_uc003lrd.2_Silent_p.E402E|PPARGC1B_uc003lrf.2_Silent_p.E420E|PPARGC1B_uc003lre.1_Silent_p.E420E	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	441	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaggaagaggaagaagaaa	0.463												
SLC6A7	6534	broad.mit.edu	37	5	149584484	149584484	+	Silent	SNP	G	G	A	rs144487516		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:149584484G>A	uc003lrr.2	+	12	1898	c.1527G>A	c.(1525-1527)ACG>ACA	p.T509T		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	509	Helical; Name=11; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCCCAGCCACGCTCTTGGTAA	0.627												
NDST1	3340	broad.mit.edu	37	5	149914560	149914560	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:149914560G>A	uc003lsk.3	+	5	1730	c.1228G>A	c.(1228-1230)GCC>ACC	p.A410T	NDST1_uc011dcj.1_Missense_Mutation_p.A410T|NDST1_uc003lsl.2_Missense_Mutation_p.A410T	NM_001543	NP_001534	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan	410	Heparan sulfate N-deacetylase 1.|Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(1)|skin(1)	2		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAGCAGATGGCCTTGAACAA	0.592												
G3BP1	10146	broad.mit.edu	37	5	151170537	151170537	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:151170537G>T	uc003lun.2	+	4	436	c.265G>T	c.(265-267)GGT>TGT	p.G89C	G3BP1_uc010jhy.1_Missense_Mutation_p.G89C|G3BP1_uc003lum.2_Missense_Mutation_p.G89C|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR	NM_005754	NP_005745	Q13283	G3BP1_HUMAN	Ras-GTPase-activating protein SH3-domain-binding	89	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			skin(3)|ovary(1)	4		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCTAAATGATGGTGTGGTAGT	0.443												
CYFIP2	26999	broad.mit.edu	37	5	156810312	156810312	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:156810312C>T	uc003lwq.2	+	30	3290	c.3152C>T	c.(3151-3153)GCC>GTC	p.A1051V	CYFIP2_uc011ddn.1_Missense_Mutation_p.A1025V|CYFIP2_uc011ddo.1_Missense_Mutation_p.A855V|CYFIP2_uc003lwr.2_Missense_Mutation_p.A1051V|CYFIP2_uc003lws.2_Missense_Mutation_p.A1051V|CYFIP2_uc003lwt.2_Missense_Mutation_p.A954V|CYFIP2_uc011ddp.1_Missense_Mutation_p.A785V|CYFIP2_uc003lwv.2_Missense_Mutation_p.A6V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1076					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)			CGTCTGGAAGCCAAGTATGCC	0.532												
SOX30	11063	broad.mit.edu	37	5	157065461	157065461	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:157065461C>T	uc003lxb.1	-	4	1999	c.1657G>A	c.(1657-1659)GCC>ACC	p.A553T	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Missense_Mutation_p.A248T	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	553					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGGCATGGGCAGTACTTGCA	0.522												
CCNJL	79616	broad.mit.edu	37	5	159680492	159680492	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:159680492T>C	uc003lyb.1	-	7	1453	c.1201A>G	c.(1201-1203)ATG>GTG	p.M401V	CCNJL_uc011dee.1_Missense_Mutation_p.M353V|CCNJL_uc003lyc.1_RNA	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	401						nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCATATGCATGCTAAGGGAT	0.612												
PTTG1	9232	broad.mit.edu	37	5	159855661	159855661	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:159855661A>G	uc003lyj.2	+	6	627	c.582A>G	c.(580-582)CCA>CCG	p.P194P	PTTG1_uc003lyk.2_Silent_p.P194P	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1	194					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TTGAATTGCCACCTGTTTGCT	0.348												
SLIT3	6586	broad.mit.edu	37	5	168244359	168244359	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:168244359G>A	uc003mab.2	-	8	1159	c.739C>T	c.(739-741)CAT>TAT	p.H247Y	SLIT3_uc010jjg.2_Missense_Mutation_p.H247Y|SLIT3_uc010jji.2_Missense_Mutation_p.H247Y|SLIT3_uc003mac.1_Missense_Mutation_p.H44Y	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	247	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCTCAAATGCACAGGAGCC	0.597												
STK10	6793	broad.mit.edu	37	5	171517367	171517367	+	Splice_Site	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:171517367C>A	uc003mbo.1	-	10	1855	c.1555_splice	c.e10-1	p.D519_splice		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10								ATP binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTTCGGGTCCTGGCCAGGGA	0.537												
SH3PXD2B	285590	broad.mit.edu	37	5	171766472	171766472	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:171766472G>A	uc003mbr.2	-	13	1808	c.1637C>T	c.(1636-1638)ACG>ATG	p.T546M		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	546					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)			GAGCTGCTCCGTCCTCTGCCG	0.667												
CDHR2	54825	broad.mit.edu	37	5	176022601	176022601	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176022601G>A	uc003mem.1	+	32	3927	c.3861G>A	c.(3859-3861)CGG>CGA	p.R1287R	CDHR2_uc003men.1_Silent_p.R1287R	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	1287	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						TGTTAGGACGGCAGGCAGGCG	0.652												
PFN3	345456	broad.mit.edu	37	5	176827262	176827262	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176827262C>T	uc003mgl.2	-	1	376	c.316G>A	c.(316-318)GCG>ACG	p.A106T		NM_001029886	NP_001025057	P60673	PROF3_HUMAN	profilin 3	106					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding				0	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAGGAGCGCGCGCGGCGCA	0.716												
DOK3	79930	broad.mit.edu	37	5	176935492	176935492	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176935492C>T	uc003mhk.2	-	3	291	c.286G>A	c.(286-288)GTG>ATG	p.V96M	DOK3_uc003mhh.3_Translation_Start_Site|DOK3_uc003mhi.3_Missense_Mutation_p.V40M|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Missense_Mutation_p.V40M	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	docking protein 3 isoform 1	96	PH.					cytoplasm|plasma membrane	insulin receptor binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGCCGTGCCACGCCTGATGGG	0.697												
N4BP3	23138	broad.mit.edu	37	5	177546827	177546827	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:177546827C>T	uc003mik.1	+	2	490	c.243C>T	c.(241-243)GCC>GCT	p.A81A	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Nedd4 binding protein 3	81						cytoplasmic vesicle membrane					0	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGAGCCTGCCGACTATGCCA	0.612												
COL23A1	91522	broad.mit.edu	37	5	177697345	177697345	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:177697345C>T	uc003mje.2	-	6	819	c.461G>A	c.(460-462)GGC>GAC	p.G154D	COL23A1_uc010jkt.2_Missense_Mutation_p.A2T	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	154	Extracellular (Potential).|Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|skin(1)	2	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TACGGGCTTGCCATCCAAACC	0.587												
ZFP2	80108	broad.mit.edu	37	5	178358745	178358745	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:178358745C>A	uc003mjn.1	+	5	940	c.431C>A	c.(430-432)TCC>TAC	p.S144Y	ZFP2_uc010jky.2_Missense_Mutation_p.S144Y|ZFP2_uc010jkx.1_Missense_Mutation_p.S144Y	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	144	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAACGATCCTCCCTTACTGTA	0.403												
ZNF454	285676	broad.mit.edu	37	5	178392092	178392092	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:178392092G>A	uc003mjo.1	+	5	958	c.687G>A	c.(685-687)ACG>ACA	p.T229T	ZNF454_uc010jkz.1_Silent_p.T229T	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	229	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ACCAGAGTACGCACCTTATCC	0.388												
SQSTM1	8878	broad.mit.edu	37	5	179250884	179250884	+	Missense_Mutation	SNP	C	C	T	rs139372286	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:179250884C>T	uc003mkw.3	+	3	423	c.328C>T	c.(328-330)CGC>TGC	p.R110C	SQSTM1_uc011dgr.1_Missense_Mutation_p.R26C|SQSTM1_uc011dgs.1_Missense_Mutation_p.R26C|SQSTM1_uc003mkv.3_Missense_Mutation_p.R110C|SQSTM1_uc003mkx.2_Missense_Mutation_p.R26C	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	sequestosome 1 isoform 1	110					anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGACCACCGCCCACCGTG	0.617									Paget_Disease_of_Bone			
MAPK9	5601	broad.mit.edu	37	5	179668088	179668088	+	Silent	SNP	G	G	A	rs116346965	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:179668088G>A	uc003mls.3	-	9	1210	c.939C>T	c.(937-939)GAC>GAT	p.D313D	MAPK9_uc003mlt.3_Silent_p.D313D|MAPK9_uc010jlc.2_Silent_p.D313D|MAPK9_uc003mlv.3_Silent_p.D313D	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	313	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGAGCTTCGTCTACAGAGA	0.428												
CNOT6	57472	broad.mit.edu	37	5	179992874	179992874	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:179992874A>G	uc003mlx.2	+	7	963	c.614A>G	c.(613-615)CAG>CGG	p.Q205R	CNOT6_uc010jld.2_Missense_Mutation_p.Q205R|CNOT6_uc010jle.2_Missense_Mutation_p.Q200R	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	205					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GCGACCCGGCAGTTATACGGC	0.398												
BTNL9	153579	broad.mit.edu	37	5	180486694	180486694	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:180486694C>T	uc003mmt.2	+	11	1671	c.1440C>T	c.(1438-1440)GGC>GGT	p.G480G		NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	480	Cytoplasmic (Potential).|B30.2/SPRY.					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTCTCGGGCGCGCTCTGTG	0.672												
GMDS	2762	broad.mit.edu	37	6	1726673	1726673	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:1726673T>A	uc003mtq.2	-	9	1154	c.964A>T	c.(964-966)AAG>TAG	p.K322*		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	322					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CGGTAGTACTTGAGATCCACA	0.512												
DSP	1832	broad.mit.edu	37	6	7585816	7585816	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:7585816T>C	uc003mxp.1	+	24	8600	c.8321T>C	c.(8320-8322)CTG>CCG	p.L2774P	DSP_uc003mxq.1_Missense_Mutation_p.L2175P	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2774	Plectin 17.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCAAAATCCTGACCTGCCCC	0.527												
MAK	4117	broad.mit.edu	37	6	10796328	10796328	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:10796328G>A	uc003mzl.2	-	8	1275	c.1046C>T	c.(1045-1047)CCG>CTG	p.P349L	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.P349L|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	349	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GTTCTGTGGCGGCTGAATGGG	0.527												
PHACTR1	221692	broad.mit.edu	37	6	13230374	13230374	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:13230374C>T	uc010jpc.2	+	10	1672	c.1340C>T	c.(1339-1341)ACG>ATG	p.T447M	PHACTR1_uc011dir.1_Missense_Mutation_p.T516M|PHACTR1_uc003nag.1_Missense_Mutation_p.T447M|PHACTR1_uc003nah.1_Missense_Mutation_p.T447M	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	447	RPEL 2.					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity				0	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCAGGCAGACGGATGAGGAG	0.587												
SIRT5	23408	broad.mit.edu	37	6	13601128	13601128	+	Silent	SNP	C	C	T	rs35937472	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:13601128C>T	uc003nay.2	+	9	1100	c.804C>T	c.(802-804)GGC>GGT	p.G268G	SIRT5_uc003naw.2_Silent_p.G268G|SIRT5_uc003nax.2_Silent_p.G160G|SIRT5_uc011dit.1_Silent_p.G250G	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	sirtuin 5 isoform 1	268	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			skin(2)|upper_aerodigestive_tract(1)	3	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CTGCCAGGGGCGTGCCAGTGG	0.572												
JARID2	3720	broad.mit.edu	37	6	15496805	15496805	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:15496805C>T	uc003nbj.2	+	7	1593	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	JARID2_uc011diu.1_Missense_Mutation_p.A314V|JARID2_uc011div.1_Missense_Mutation_p.A278V|JARID2_uc011diw.1_Missense_Mutation_p.A412V	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	450					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)				GCACACCAGGCGGAGAAGCCG	0.687												
KIF13A	63971	broad.mit.edu	37	6	17796972	17796972	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:17796972C>T	uc003ncg.3	-	23	2975	c.2870G>A	c.(2869-2871)CGG>CAG	p.R957Q	KIF13A_uc003ncf.2_Missense_Mutation_p.R957Q|KIF13A_uc003nch.3_Missense_Mutation_p.R957Q|KIF13A_uc003nci.3_Missense_Mutation_p.R957Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	957					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)			TCCAGCACACCGGTGGCCCCA	0.483												
E2F3	1871	broad.mit.edu	37	6	20481645	20481645	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:20481645C>T	uc003nda.2	+	3	1041	c.714C>T	c.(712-714)AAC>AAT	p.N238N	E2F3_uc003ncz.2_Silent_p.N232N	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	238	Potential.|DEF box.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTAAAAACAACGTCCAATGGA	0.478												
ALDH5A1	7915	broad.mit.edu	37	6	24503611	24503611	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:24503611C>T	uc003neg.2	+	3	587	c.559C>T	c.(559-561)CGG>TGG	p.R187W	ALDH5A1_uc003nef.2_Missense_Mutation_p.R187W	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	187					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	AAAGGACAGGCGGGCCCTGGT	0.557												
ALDH5A1	7915	broad.mit.edu	37	6	24528266	24528266	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:24528266C>T	uc003neg.2	+	8	1243	c.1215C>T	c.(1213-1215)ACC>ACT	p.T405T	ALDH5A1_uc003nef.2_Silent_p.T418T	NM_001080	NP_001071	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5A1 isoform 2 precursor	405					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity				0					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	AAGGTGCCACCGTTGTGACAG	0.423												
SLC17A1	6568	broad.mit.edu	37	6	25799104	25799104	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:25799104G>A	uc003nfh.3	-	12	1429	c.1313C>T	c.(1312-1314)GCC>GTC	p.A438V	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.A436V|SLC17A1_uc010jqc.1_Missense_Mutation_p.A382V	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	438	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						CACATTAATGGCTGCCATCAG	0.373												
OR2B6	26212	broad.mit.edu	37	6	27925084	27925084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:27925084G>A	uc011dkx.1	+	1	66	c.66G>A	c.(64-66)TGG>TGA	p.W22*		NM_012367	NP_036499	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATCGACCTTGGCTGGAGTTTC	0.423												
NKAPL	222698	broad.mit.edu	37	6	28228000	28228000	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:28228000T>C	uc003nkt.2	+	1	903	c.851T>C	c.(850-852)ATA>ACA	p.I284T	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	284										upper_aerodigestive_tract(1)|ovary(1)	2						GAAGCACCTATAATACATACC	0.448												
ZNF311	282890	broad.mit.edu	37	6	28962826	28962826	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:28962826T>C	uc003nlu.2	-	7	2466	c.1953A>G	c.(1951-1953)CCA>CCG	p.P651P	ZNF311_uc011dlk.1_Silent_p.P559P|ZNF311_uc003nlv.2_Silent_p.P559P	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0						AAACAGTCACTGGAGAGAGGG	0.343												
MOG	4340	broad.mit.edu	37	6	29638115	29638115	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:29638115T>C	uc003nnf.2	+	6	828	c.650T>C	c.(649-651)GTT>GCT	p.V217A	MOG_uc003nmy.1_Missense_Mutation_p.V217A|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.V147A|MOG_uc003nna.2_Missense_Mutation_p.V101A|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.V217A|MOG_uc003nng.2_Intron|MOG_uc003nnh.2_Intron|MOG_uc003nni.2_Intron|MOG_uc003nnj.2_Intron|MOG_uc003nnk.2_Intron	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	217	Helical; (Potential).				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)	1						ATTGTGCCGGTTCTTGGACCC	0.512												
TRIM31	11074	broad.mit.edu	37	6	30080390	30080390	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:30080390T>G	uc003npg.1	-	2	303	c.193A>C	c.(193-195)ATC>CTC	p.I65L	TRIM31_uc003npi.3_RNA	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	tripartite motif protein 31	65						mitochondrion	ligase activity|zinc ion binding			lung(1)	1						TTGAACCTGATTGCGTTCTTC	0.478												
HLA-E	3133	broad.mit.edu	37	6	30458189	30458189	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:30458189T>C	uc003nqg.2	+	3	545	c.507T>C	c.(505-507)AAT>AAC	p.N169N	HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.N210N	NM_005516	NP_005507	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	169	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(4)|ovary(1)	5						AAAAGTCAAATGATGCCTCTG	0.582												
MRPS18B	28973	broad.mit.edu	37	6	30593484	30593484	+	Silent	SNP	C	C	T	rs148815125	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:30593484C>T	uc003nqo.2	+	7	844	c.687C>T	c.(685-687)GGC>GGT	p.G229G	MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Silent_p.G186G|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor	229					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1						AAGAGAGTGGCCCCCCACCTG	0.592												
TCF19	6941	broad.mit.edu	37	6	31130391	31130391	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31130391G>A	uc003nss.2	+	4	1459	c.935G>A	c.(934-936)GGC>GAC	p.G312D	TCF19_uc003nst.2_Missense_Mutation_p.G312D	NM_001077511	NP_001070979	Q9Y242	TCF19_HUMAN	transcription factor 19	312	PHD-type.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CAGTGTGATGGCTGTGACGTC	0.657												
HLA-B	3106	broad.mit.edu	37	6	31323308	31323308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31323308G>T	uc003nth.2	-	4	735	c.681C>A	c.(679-681)TGC>TGA	p.C227*	HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Nonsense_Mutation_p.C106*|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	227	Alpha-3.|Ig-like C1-type.|Extracellular (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0						CCAGGGCCCAGCACCTCAGGG	0.587									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of			
C6orf27	80737	broad.mit.edu	37	6	31734281	31734281	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31734281C>T	uc011dog.1	-	14	2381	c.2143G>A	c.(2143-2145)GCT>ACT	p.A715T	C6orf27_uc003nxd.2_Missense_Mutation_p.A390T	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	G7c protein precursor	715						extracellular region				ovary(3)	3						TGAGGGGCAGCCCTGTGCAGG	0.672												
SLC44A4	80736	broad.mit.edu	37	6	31833553	31833553	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31833553G>T	uc010jti.2	-	15	1562	c.1496C>A	c.(1495-1497)ACT>AAT	p.T499N	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	499	Cytoplasmic (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CAATGACCCAGTGTGGTAACT	0.577												
EHMT2	10919	broad.mit.edu	37	6	31856834	31856834	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31856834C>A	uc003nxz.1	-	10	1138	c.1128G>T	c.(1126-1128)GTG>GTT	p.V376V	EHMT2_uc003nxy.1_Silent_p.V167V|EHMT2_uc011don.1_Intron|EHMT2_uc003nya.1_Intron	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	376					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			ovary(1)	1						CTGAGGAGCCCACACCATTCA	0.617												
C4A	720	broad.mit.edu	37	6	31962394	31962394	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31962394G>A	uc011doy.1	+	21	2763	c.2712G>A	c.(2710-2712)ACG>ACA	p.T904T	C4A_uc011doz.1_Silent_p.T904T	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN	complement component 4A preproprotein	904					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity				0						TGGTGCCCACGGCAGCCGCCG	0.662												
CYP21A2	1589	broad.mit.edu	37	6	32007917	32007917	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32007917G>A	uc003nze.1	+	7	992	c.874G>A	c.(874-876)GGT>AGT	p.G292S	CYP21A2_uc003nzf.1_Missense_Mutation_p.G262S	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	291			G -> R (in AH3).|G -> S (in AH3; salt wasting form; less then 1% activity).|G -> C (in AH3).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						CCTCCTGATCGGTGGCACTGA	0.607												
AGPAT1	10554	broad.mit.edu	37	6	32137210	32137210	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32137210C>T	uc003oae.2	-	7	1013	c.695G>A	c.(694-696)CGG>CAG	p.R232Q	PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R196Q|AGPAT1_uc003oaf.2_Missense_Mutation_p.R232Q|AGPAT1_uc003oag.2_Missense_Mutation_p.R122Q|AGPAT1_uc003oah.2_Missense_Mutation_p.R232Q|AGPAT1_uc003oai.1_Missense_Mutation_p.R232Q|AGPAT1_uc011dpl.1_Missense_Mutation_p.R120Q	NM_006411	NP_006402	Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	232					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)	1						GGGCAGCACCCGCACCTGACA	0.617												
NOTCH4	4855	broad.mit.edu	37	6	32166736	32166736	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32166736C>T	uc003obb.2	-	24	4641	c.4502G>A	c.(4501-4503)CGG>CAG	p.R1501Q	NOTCH4_uc011dpt.1_5'Flank|NOTCH4_uc003oba.2_Missense_Mutation_p.R164Q|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1501	Cytoplasmic (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TAGTGGGGGCCGGCGTCGGTG	0.602												
NOTCH4	4855	broad.mit.edu	37	6	32187952	32187952	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32187952G>A	uc003obb.2	-	7	1408	c.1269C>T	c.(1267-1269)GGC>GGT	p.G423G	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.G423G	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	423	EGF-like 10.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						GCCCCGAATAGCCAGGCTGAC	0.622												
ITPR3	3710	broad.mit.edu	37	6	33638469	33638469	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:33638469G>A	uc011drk.1	+	20	2682	c.2463G>A	c.(2461-2463)GCG>GCA	p.A821A		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	821	Cytoplasmic (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						ACCTCAACGCGTCCCGAGATG	0.587												
ANKS1A	23294	broad.mit.edu	37	6	34957009	34957009	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:34957009T>C	uc003ojx.3	+	9	1360	c.1218T>C	c.(1216-1218)CGT>CGC	p.R406R	ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain	406						cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						AGAGGGAACGTCCACCACCTC	0.413												
TULP1	7287	broad.mit.edu	37	6	35480431	35480431	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:35480431C>T	uc003okv.3	-	2	96	c.84G>A	c.(82-84)CCG>CCA	p.P28P	TULP1_uc003okw.3_Silent_p.P28P	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	28					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						TGGGGCGCCGCGGGGCCTCCG	0.502												
SLC26A8	116369	broad.mit.edu	37	6	35919044	35919044	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:35919044C>T	uc003olm.2	-	19	2479	c.2368G>A	c.(2368-2370)GAC>AAC	p.D790N	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.D372N|SLC26A8_uc003oln.2_Missense_Mutation_p.D790N|SLC26A8_uc003oll.2_Missense_Mutation_p.D685N	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	790	Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						AGCACGGCGTCGTGAACGCTG	0.488												
TBC1D22B	55633	broad.mit.edu	37	6	37252164	37252164	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:37252164G>A	uc003onn.2	+	6	871	c.725G>A	c.(724-726)CGG>CAG	p.R242Q	TBC1D22B_uc010jwt.2_RNA	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	242	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CAGCGGAAGCGGGAGGAATAT	0.488												
MDGA1	266727	broad.mit.edu	37	6	37623589	37623589	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:37623589G>A	uc003onu.1	-	4	1645	c.466C>T	c.(466-468)CGC>TGC	p.R156C		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	MAM domain containing	156	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)	2						ACAGTACAGCGCAGGAACACC	0.592												
DAAM2	23500	broad.mit.edu	37	6	39846031	39846031	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:39846031C>T	uc003oow.2	+	12	1510	c.1354C>T	c.(1354-1356)CGG>TGG	p.R452W	DAAM2_uc010jxc.2_Missense_Mutation_p.R452W|DAAM2_uc003oox.2_Missense_Mutation_p.R452W	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	452	Potential.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R452Q(1)		ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGAGAAGTTCCGGAAAGGTGA	0.547												
GUCA1B	2979	broad.mit.edu	37	6	42162429	42162429	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42162429G>A	uc003orz.2	-	1	266	c.130C>T	c.(130-132)CGC>TGC	p.R44C		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	44					body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			skin(2)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTGAAGAAGCGCTTAAACTCA	0.547												
TRERF1	55809	broad.mit.edu	37	6	42196140	42196140	+	Silent	SNP	G	G	A	rs138437729		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42196140G>A	uc003osd.2	-	18	4109	c.3546C>T	c.(3544-3546)ACC>ACT	p.T1182T	TRERF1_uc011duq.1_Silent_p.T1099T|TRERF1_uc003osb.2_Silent_p.T950T|TRERF1_uc003osc.2_Silent_p.T938T|TRERF1_uc003ose.2_Silent_p.T1202T	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1182	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAGAAGATCGGTGTCCACAA	0.512												
UBR2	23304	broad.mit.edu	37	6	42643810	42643810	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42643810C>T	uc011dur.1	+	39	4268	c.4268C>T	c.(4267-4269)GCA>GTA	p.A1423V	UBR2_uc011dus.1_Missense_Mutation_p.A1068V|UBR2_uc003osh.2_Intron|UBR2_uc011dut.1_Missense_Mutation_p.A11V	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	1423					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTGGTGCTTGCATTTCCTGCG	0.443												
CUL7	9820	broad.mit.edu	37	6	43013345	43013345	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43013345G>A	uc003otq.2	-	14	3145	c.2842C>T	c.(2842-2844)CGC>TGC	p.R948C	CUL7_uc010jyg.2_Missense_Mutation_p.R227C|CUL7_uc011dvb.1_Missense_Mutation_p.R1032C|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	948	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGCTTTATGCGGATCTGGATG	0.622												
KLC4	89953	broad.mit.edu	37	6	43039923	43039923	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43039923T>C	uc003otv.1	+	12	1495	c.1418T>C	c.(1417-1419)CTG>CCG	p.L473P	KLC4_uc003otr.1_RNA|KLC4_uc011dvd.1_Missense_Mutation_p.L396P|KLC4_uc003otw.1_Missense_Mutation_p.L491P|KLC4_uc003otx.1_Missense_Mutation_p.L473P|KLC4_uc003oty.1_Missense_Mutation_p.L473P|KLC4_uc003otz.1_Missense_Mutation_p.L473P	NM_201521	NP_958929	Q9NSK0	KLC4_HUMAN	kinesin-like 8 isoform a	473	TPR 7.					cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			skin(3)|ovary(1)	4			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTGGGAGCTCTGTATAGGCGC	0.542												
ZNF318	24149	broad.mit.edu	37	6	43323104	43323104	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43323104G>A	uc003oux.2	-	4	2046	c.1968C>T	c.(1966-1968)CGC>CGT	p.R656R	ZNF318_uc003ouw.2_RNA	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	656					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGAGGAACAGCGGTCAGCTG	0.542												
YIPF3	25844	broad.mit.edu	37	6	43483391	43483391	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:43483391C>T	uc003ovl.1	-	3	494	c.337G>A	c.(337-339)GCC>ACC	p.A113T	YIPF3_uc011dvk.1_Missense_Mutation_p.A78T|YIPF3_uc010jyr.1_Missense_Mutation_p.A119T|YIPF3_uc010jys.1_5'UTR|YIPF3_uc003ovm.1_5'UTR|YIPF3_uc010jyt.1_Intron|POLR1C_uc003ovn.2_5'Flank|POLR1C_uc003ovo.1_5'Flank	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	natural killer cell-specific antigen KLIP1	113					cell differentiation	integral to membrane|plasma membrane|transport vesicle					0	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TCGATGTTGGCGTACAAGCTG	0.517												
TCTE1	202500	broad.mit.edu	37	6	44248064	44248064	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:44248064G>A	uc003oxi.2	-	5	1516	c.1360C>T	c.(1360-1362)CGC>TGC	p.R454C	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	454										ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGACAGGCGCAAGTCAAAT	0.572												
PKHD1	5314	broad.mit.edu	37	6	51882334	51882334	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:51882334A>G	uc003pah.1	-	34	5750	c.5474T>C	c.(5473-5475)ATG>ACG	p.M1825T	PKHD1_uc003pai.2_Missense_Mutation_p.M1825T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1825	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					CTCTGTCGCCATGGCAACTGT	0.527												
EFHC1	114327	broad.mit.edu	37	6	52318984	52318984	+	Missense_Mutation	SNP	C	C	T	rs143655397		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:52318984C>T	uc003pap.3	+	5	1030	c.815C>T	c.(814-816)ACG>ATG	p.T272M	EFHC1_uc011dwv.1_Missense_Mutation_p.T181M|EFHC1_uc011dww.1_Missense_Mutation_p.T253M	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	272	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					ATGGATGATACGGTGGAAATT	0.453												
EFHC1	114327	broad.mit.edu	37	6	52357070	52357070	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:52357070A>G	uc003pap.3	+	11	2069	c.1854A>G	c.(1852-1854)TTA>TTG	p.L618L	EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Silent_p.L599L	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	618						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					CTCTGCAGTTAATCAGGATGT	0.433												
DST	667	broad.mit.edu	37	6	56328464	56328464	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:56328464G>A	uc003pdf.2	-	94	16457	c.16429C>T	c.(16429-16431)CGG>TGG	p.R5477W	DST_uc003pcz.3_Missense_Mutation_p.R5299W|DST_uc011dxj.1_Missense_Mutation_p.R5328W|DST_uc011dxk.1_Missense_Mutation_p.R5339W|DST_uc003pcy.3_Missense_Mutation_p.R4973W|DST_uc003pcv.3_Missense_Mutation_p.R95W|DST_uc003pcw.3_Missense_Mutation_p.R56W|DST_uc003pcx.3_Missense_Mutation_p.R56W	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7409					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGATGGCCGGGATCTTCGG	0.592												
IMPG1	3617	broad.mit.edu	37	6	76660338	76660338	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:76660338C>T	uc003pik.1	-	13	1895	c.1765G>A	c.(1765-1767)GAC>AAC	p.D589N		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	589	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGAACAGGTCGTTGGAGAAG	0.493												
ELOVL4	6785	broad.mit.edu	37	6	80656996	80656996	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:80656996T>A	uc003pja.3	-	1	320	c.1A>T	c.(1-3)ATG>TTG	p.M1L	ELOVL4_uc011dyt.1_RNA	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	elongation of very long chain fatty acids-like	1					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			ovary(1)|skin(1)	2		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGGAGCCCCATCGCGGCGATG	0.697												
DOPEY1	23033	broad.mit.edu	37	6	83849800	83849800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:83849800T>A	uc003pjs.1	+	22	5462	c.5202T>A	c.(5200-5202)TGT>TGA	p.C1734*	DOPEY1_uc011dyy.1_Nonsense_Mutation_p.C1725*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.C1725*|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1734					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCCATTACTGTTTGTTGGATC	0.358												
RIPPLY2	134701	broad.mit.edu	37	6	84563821	84563821	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:84563821C>T	uc003pke.2	+	3	331	c.180C>T	c.(178-180)CCC>CCT	p.P60P		NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	ripply2 protein	60					somite rostral/caudal axis specification	nucleus					0						TCCAGATGCCCGATGGCCCTG	0.577												
SPACA1	81833	broad.mit.edu	37	6	88767395	88767395	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:88767395C>T	uc003pmn.2	+	3	448	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	111	Extracellular (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GTGTGTTGTACGGGTAGAAGA	0.393												
MDN1	23195	broad.mit.edu	37	6	90359802	90359803	+	Missense_Mutation	DNP	AC	AC	GT			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:90359802_90359803AC>GT	uc003pnn.1	-	97	16262_16263	c.16146_16147GT>AC	c.(16144-16149)CAGTAT>CAACAT	p.Y5383H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5383					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAATCTGATACTGGCGTTTAC	0.411												
BACH2	60468	broad.mit.edu	37	6	90660298	90660298	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:90660298G>A	uc011eab.1	-	7	2336	c.1527C>T	c.(1525-1527)CGC>CGT	p.R509R	BACH2_uc003pnw.2_Silent_p.R509R|BACH2_uc010kch.2_Silent_p.R509R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	509						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGGGGGTGAGCGAGGGCAGA	0.652												
KIAA0776	23376	broad.mit.edu	37	6	96972270	96972270	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:96972270T>C	uc003por.2	+	3	284	c.236T>C	c.(235-237)ATT>ACT	p.I79T	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	79	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)		CGAGTAAACATTGTTGATCTA	0.284												
C6orf167	253714	broad.mit.edu	37	6	97597752	97597752	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:97597752G>A	uc003ppb.2	-	24	3893	c.3627C>T	c.(3625-3627)GGC>GGT	p.G1209G	C6orf167_uc011eaf.1_Silent_p.G1169G	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	hypothetical protein LOC253714	1209					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding				0		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.0457)		TCCTGCCAAGGCCCCATTTCT	0.348												
ASCC3	10973	broad.mit.edu	37	6	101037562	101037562	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:101037562T>A	uc003pqk.2	-	36	5827	c.5498A>T	c.(5497-5499)AAG>ATG	p.K1833M		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1833	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CAAGCGGTCCTTGAACATTTT	0.343												
GRIK2	2898	broad.mit.edu	37	6	102337740	102337740	+	Splice_Site	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:102337740T>C	uc003pqp.3	+	11	1997	c.1748_splice	c.e11+2	p.R583_splice	GRIK2_uc003pqn.2_Nonstop_Mutation_p.*584Q|GRIK2_uc003pqo.3_Splice_Site_p.R583_splice|GRIK2_uc010kcw.2_Splice_Site_p.R583_splice	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|pancreas(1)|breast(1)|skin(1)	5		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CATAGCCAGGTAACATGCTCA	0.378												
SCML4	256380	broad.mit.edu	37	6	108070973	108070973	+	Silent	SNP	C	C	T	rs148891280		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:108070973C>T	uc010kdf.2	-	3	452	c.201G>A	c.(199-201)CCG>CCA	p.P67P	SCML4_uc003prz.3_Silent_p.P9P|SCML4_uc011eam.1_Silent_p.P67P|SCML4_uc003psa.3_Silent_p.P38P	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGTACTCCGCGGAGGTGAGA	0.577												
REV3L	5980	broad.mit.edu	37	6	111694477	111694477	+	Missense_Mutation	SNP	T	T	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:111694477T>G	uc003puy.3	-	13	5404	c.5081A>C	c.(5080-5082)AAT>ACT	p.N1694T	REV3L_uc003pux.3_Missense_Mutation_p.N1616T|REV3L_uc003puz.3_Missense_Mutation_p.N1616T	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	1694					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAAAAACTCATTTTTTTCTAT	0.318								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
GOPC	57120	broad.mit.edu	37	6	117923401	117923401	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:117923401G>A	uc003pxu.2	-	1	281	c.51C>T	c.(49-51)GGC>GGT	p.G17G	GOPC_uc003pxv.2_Silent_p.G17G	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	17					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		AGCAGGAGGCGCCCCCTGGGC	0.697			O	ROS1	glioblastoma						OREG0017633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMPDL3A	10924	broad.mit.edu	37	6	123116911	123116911	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:123116911G>A	uc003pzg.2	+	2	723	c.202G>A	c.(202-204)GCA>ACA	p.A68T	SMPDL3A_uc003pzh.2_Intron	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	acid sphingomyelinase-like phosphodiesterase 3A	68					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity				0				GBM - Glioblastoma multiforme(226;0.236)		ATCTAAAGGTGCAAATGCCTC	0.398												
C6orf174	387104	broad.mit.edu	37	6	127796902	127796902	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:127796902C>T	uc003qbd.2	-	6	3134	c.2269G>A	c.(2269-2271)GCG>ACG	p.A757T	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	757						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		TTCTTGCCCGCGTCGCTCTCG	0.697												
C6orf174	387104	broad.mit.edu	37	6	127837665	127837665	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:127837665C>T	uc003qbd.2	-	2	960	c.95G>A	c.(94-96)AGC>AAC	p.S32N		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	32						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		CTTTCTGCTGCTGCCCTCCGG	0.677												
L3MBTL3	84456	broad.mit.edu	37	6	130454617	130454617	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:130454617G>A	uc003qbt.2	+	21	2157	c.1987G>A	c.(1987-1989)GTC>ATC	p.V663I	L3MBTL3_uc003qbu.2_Missense_Mutation_p.V638I	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	663					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AGAACCCACCGTCCAGCAGGC	0.527												
TAAR6	319100	broad.mit.edu	37	6	132891738	132891738	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:132891738C>T	uc011eck.1	+	1	278	c.278C>T	c.(277-279)ACG>ATG	p.T93M		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	93	Extracellular (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(1)	3	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		ATGGTCAGGACGGTGGAGAGC	0.498												
TNFAIP3	7128	broad.mit.edu	37	6	138201287	138201287	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:138201287C>T	uc003qhr.2	+	8	2052	c.1986C>T	c.(1984-1986)TGC>TGT	p.C662C	TNFAIP3_uc003qhs.2_Silent_p.C662C	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	A20-type 5.|Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.C662fs*36(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
ECT2L	345930	broad.mit.edu	37	6	139159645	139159645	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:139159645T>C	uc003qif.1	+	3	439	c.336T>C	c.(334-336)ACT>ACC	p.T112T	ECT2L_uc011edq.1_Silent_p.T43T	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	112	F-box.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						AGTTTTTAACTGAACAGGTTT	0.448												
TXLNB	167838	broad.mit.edu	37	6	139583894	139583894	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:139583894C>T	uc011eds.1	-	5	869	c.704G>A	c.(703-705)CGG>CAG	p.R235Q		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	235	Potential.					cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCACGTGCCCGCTGAAGCGC	0.478												
TXLNB	167838	broad.mit.edu	37	6	139609852	139609852	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:139609852T>C	uc011eds.1	-	2	350	c.185A>G	c.(184-186)CAG>CGG	p.Q62R		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	taxilin beta	62						cytoplasm				large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GTCTTCCAGCTGTCGATTCAG	0.547												
GPR126	57211	broad.mit.edu	37	6	142725056	142725056	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:142725056T>C	uc010khc.2	+	14	2484	c.2073T>C	c.(2071-2073)AAT>AAC	p.N691N	GPR126_uc010khd.2_Silent_p.N663N|GPR126_uc010khe.2_Silent_p.N691N|GPR126_uc010khf.2_Silent_p.N663N	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	691	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGGACAAATGCAATTTCAA	0.363												
FBXO30	84085	broad.mit.edu	37	6	146121270	146121270	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:146121270A>G	uc003qla.2	-	3	2409	c.2210T>C	c.(2209-2211)CTA>CCA	p.L737P	uc003qky.1_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	F-box only protein 30	737							ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTGAGCGTAGTGAACGTCC	0.353												
SUMO4	387082	broad.mit.edu	37	6	149721679	149721679	+	Missense_Mutation	SNP	G	G	A	rs57327874	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:149721679G>A	uc003qml.2	+	1	185	c.152G>A	c.(151-153)CGG>CAG	p.R51Q	TAB2_uc011eec.1_Intron|TAB2_uc003qmj.2_Intron|TAB2_uc003qmk.3_Intron	NM_001002255	NP_001002255	Q6EEV6	SUMO4_HUMAN	SMT3 suppressor of mif two 3 homolog 4	51	Ubiquitin-like.										0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;7.91e-12)|GBM - Glioblastoma multiforme(68;0.0282)		TGTGAACCACGGGGATTGTCA	0.433												
AKAP12	9590	broad.mit.edu	37	6	151672372	151672372	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151672372C>T	uc011eep.1	+	4	3086	c.2846C>T	c.(2845-2847)ACG>ATG	p.T949M	AKAP12_uc003qoe.2_Missense_Mutation_p.T949M|AKAP12_uc003qof.2_Missense_Mutation_p.T851M|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.T844M	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	949					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCCCCCACGGTTACTGAA	0.527												
RMND1	55005	broad.mit.edu	37	6	151766691	151766691	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151766691C>T	uc003qoi.2	-	2	436	c.256G>A	c.(256-258)GCT>ACT	p.A86T	RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.A86T|RMND1_uc011eer.1_Missense_Mutation_p.A86T	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog	86											0		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TGGCAACGAGCAGCATTTAAT	0.423												
SYNE1	23345	broad.mit.edu	37	6	152473123	152473123	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:152473123G>A	uc010kiw.2	-	134	24885	c.24283C>T	c.(24283-24285)CGT>TGT	p.R8095C	SYNE1_uc010kiv.2_Missense_Mutation_p.R2619C|SYNE1_uc003qos.3_Missense_Mutation_p.R2619C|SYNE1_uc003qot.3_Missense_Mutation_p.R8024C|SYNE1_uc003qou.3_Missense_Mutation_p.R8095C|SYNE1_uc003qop.3_Missense_Mutation_p.R257C|SYNE1_uc011eez.1_Missense_Mutation_p.R297C|SYNE1_uc003qoq.3_Missense_Mutation_p.R297C|SYNE1_uc003qor.3_Missense_Mutation_p.R995C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8095	Spectrin 29.|Cytoplasmic (Potential).		R -> H (in EDMD4).		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)		GAGGTGACACGCTTTTGCAGG	0.527										HNSCC(10;0.0054)		
SYNE1	23345	broad.mit.edu	37	6	152841622	152841622	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:152841622G>A	uc010kiw.2	-	6	883	c.281C>T	c.(280-282)ACG>ATG	p.T94M	SYNE1_uc003qot.3_Missense_Mutation_p.T94M|SYNE1_uc003qou.3_Missense_Mutation_p.T94M|SYNE1_uc010kjb.1_Missense_Mutation_p.T94M|SYNE1_uc003qpa.1_Missense_Mutation_p.T94M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	94	Actin-binding.|Cytoplasmic (Potential).|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTGAGTGCCGTGCCAATGTT	0.443										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155465747	155465747	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:155465747G>A	uc003qqb.2	+	8	2911	c.1638G>A	c.(1636-1638)ACG>ACA	p.T546T	TIAM2_uc003qqe.2_Silent_p.T546T|TIAM2_uc010kjj.2_Silent_p.T79T	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	546	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGGATGCACGCTGCTGTTTT	0.483												
IGF2R	3482	broad.mit.edu	37	6	160494501	160494501	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:160494501G>A	uc003qta.2	+	34	5095	c.4947G>A	c.(4945-4947)GCG>GCA	p.A1649A		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1649	11.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGAGCAAGCGGTGAGTTTTC	0.607												
RPS6KA2	6196	broad.mit.edu	37	6	166883342	166883342	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:166883342G>A	uc003qvb.1	-	11	1178	c.959C>T	c.(958-960)ACC>ATC	p.T320I	RPS6KA2_uc011ego.1_Missense_Mutation_p.T231I|RPS6KA2_uc010kkl.1_Missense_Mutation_p.T231I|RPS6KA2_uc003qvc.1_Missense_Mutation_p.T328I|RPS6KA2_uc003qvd.1_Missense_Mutation_p.T345I	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	320	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCAGTCTATGGTCACAAAGAA	0.517												
THBS2	7058	broad.mit.edu	37	6	169629757	169629757	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:169629757C>T	uc003qwt.2	-	15	2417	c.2169G>A	c.(2167-2169)CTG>CTA	p.L723L		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	723	TSP type-3 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGAATTTGGCAGATGGGGGC	0.478												
HEATR2	54919	broad.mit.edu	37	7	796463	796463	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:796463G>T	uc010krz.1	+	6	1322	c.1302G>T	c.(1300-1302)GAG>GAT	p.E434D	HEATR2_uc003siz.2_Missense_Mutation_p.E302D	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	434							protein binding			skin(1)	1		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCAGCCCTGAGGTGTTTCTGA	0.607												
SUN1	23353	broad.mit.edu	37	7	899919	899919	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:899919G>A	uc011jvp.1	+	15	1758	c.1679G>A	c.(1678-1680)CGG>CAG	p.R560Q	GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.R477Q|SUN1_uc011jvq.1_Missense_Mutation_p.R457Q|SUN1_uc003sjg.2_Missense_Mutation_p.R465Q|SUN1_uc011jvr.1_Missense_Mutation_p.R358Q|SUN1_uc003sji.2_Missense_Mutation_p.R398Q|SUN1_uc003sjk.2_Missense_Mutation_p.R199Q	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	587	Perinuclear space.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						CAGATCCTGCGGAACGTCACC	0.597												
GPER	2852	broad.mit.edu	37	7	1131765	1131765	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:1131765C>T	uc010ksd.1	+	2	790	c.401C>T	c.(400-402)TCG>TTG	p.S134L	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.S134L|GPER_uc003ska.1_Missense_Mutation_p.S134L|GPER_uc003skb.2_Missense_Mutation_p.S134L	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	134	Helical; Name=3; (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		ACCTTCATGTCGCTCTTCCTG	0.612												
INTS1	26173	broad.mit.edu	37	7	1538480	1538480	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:1538480C>T	uc003skn.2	-	9	1247	c.1146G>A	c.(1144-1146)CGG>CGA	p.R382R	INTS1_uc003skq.2_Silent_p.R382R	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	382					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTGGGCCGGCCGGGTCAGCT	0.657												
AMZ1	155185	broad.mit.edu	37	7	2752035	2752035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:2752035G>A	uc003smr.1	+	7	1381	c.1020G>A	c.(1018-1020)TGG>TGA	p.W340*	AMZ1_uc003sms.1_Missense_Mutation_p.G284R|AMZ1_uc011jwa.1_Nonsense_Mutation_p.W89*	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	340							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGTCAGTGTGGGAGGACACCC	0.667												
SDK1	221935	broad.mit.edu	37	7	4153777	4153777	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4153777C>T	uc003smx.2	+	25	3833	c.3694C>T	c.(3694-3696)CGG>TGG	p.R1232W	SDK1_uc010kso.2_Missense_Mutation_p.R508W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1232	Fibronectin type-III 6.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGTCAGTGACCGGCTGGAGAG	0.602												
KIAA0415	9907	broad.mit.edu	37	7	4830330	4830330	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4830330G>A	uc003sne.2	+	16	2048	c.1965G>A	c.(1963-1965)TCG>TCA	p.S655S	KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.S132S	NM_014855	NP_055670	O43299	K0415_HUMAN	hypothetical protein LOC9907	655					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)		AGTACCTGTCGGTGACCTACG	0.657												
PAPOLB	56903	broad.mit.edu	37	7	4899860	4899860	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4899860C>T	uc003snk.2	-	1	1766	c.1582G>A	c.(1582-1584)GCA>ACA	p.A528T	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	527					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TCACAGCCTGCAGACAAGTCA	0.478												
MMD2	221938	broad.mit.edu	37	7	4947141	4947141	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:4947141G>A	uc003sno.3	-	7	895	c.699C>T	c.(697-699)CCC>CCT	p.P233P	MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Silent_p.P209P|MMD2_uc010ksq.2_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	monocyte to macrophage	233	Cytoplasmic (Potential).					integral to membrane	receptor activity			central_nervous_system(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CGTGGGCAAAGGGGATCCTCC	0.582												
WIPI2	26100	broad.mit.edu	37	7	5266847	5266847	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:5266847C>T	uc003snv.2	+	10	1101	c.885C>T	c.(883-885)TTC>TTT	p.F295F	WIPI2_uc003snw.2_Silent_p.F295F|WIPI2_uc003snx.2_Silent_p.F277F|WIPI2_uc003sny.2_Silent_p.F277F|WIPI2_uc010ksv.2_Silent_p.F151F|WIPI2_uc003soa.2_Silent_p.F236F|WIPI2_uc003sob.2_Silent_p.F38F	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	295					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			ovary(2)	2		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		CCGGGTACTTCGGGAAAGTGC	0.632												
GLCCI1	113263	broad.mit.edu	37	7	8124630	8124630	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:8124630G>T	uc003srk.2	+	7	1840	c.1281G>T	c.(1279-1281)AAG>AAT	p.K427N		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	427											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AGCGAGTGAAGGTCTTTGAGG	0.453												
PHF14	9678	broad.mit.edu	37	7	11062500	11062500	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:11062500T>A	uc003sry.1	+	6	1646	c.1211T>A	c.(1210-1212)GTT>GAT	p.V404D	PHF14_uc011jxi.1_Missense_Mutation_p.V119D|PHF14_uc003srz.2_Missense_Mutation_p.V404D|PHF14_uc011jxj.1_Missense_Mutation_p.V119D	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	404							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		CTTAGATGGGTTCATATTGTT	0.338												
NUPL2	11097	broad.mit.edu	37	7	23239157	23239157	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:23239157G>A	uc003svu.2	+	6	949	c.690G>A	c.(688-690)TCG>TCA	p.S230S	NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_Silent_p.S107S|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_Silent_p.S107S|NUPL2_uc011jyx.1_Silent_p.S2S	NM_007342	NP_031368	O15504	NUPL2_HUMAN	nucleoporin like 2	230					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			skin(2)|ovary(1)	3						CATTTATGTCGCCAGGTAAGT	0.363												
C7orf30	115416	broad.mit.edu	37	7	23339094	23339094	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:23339094G>A	uc003swd.1	+	1	155	c.123G>A	c.(121-123)CGG>CGA	p.R41R		NM_138446	NP_612455	Q96EH3	CG030_HUMAN	hypothetical protein LOC115416	41						mitochondrion					0			GBM - Glioblastoma multiforme(13;0.154)			CCGTGCAGCGGCTTCCCGTAG	0.726												
MPP6	51678	broad.mit.edu	37	7	24720064	24720064	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:24720064G>A	uc003swx.2	+	12	1670	c.1371G>A	c.(1369-1371)GCG>GCA	p.A457A	MPP6_uc003swy.2_Silent_p.A457A|MPP6_uc010kur.2_Silent_p.A125A	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6	457	Guanylate kinase-like.				protein complex assembly		protein binding				0						TATTTATTGCGGCTCCGGAGC	0.418												
HOXA7	3204	broad.mit.edu	37	7	27194754	27194754	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:27194754G>A	uc003sys.2	-	2	599	c.467C>T	c.(466-468)ACG>ATG	p.T156M	HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	NM_006896	NP_008827	P31268	HXA7_HUMAN	homeobox A7	156	Homeobox.				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding				0						GCGGCGCCGCGTCAGGTAGCG	0.602												
PLEKHA8	84725	broad.mit.edu	37	7	30094883	30094883	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:30094883A>G	uc003tam.1	+	9	1055	c.964A>G	c.(964-966)ATT>GTT	p.I322V	PLEKHA8_uc003tao.2_Missense_Mutation_p.I206V|PLEKHA8_uc003tap.1_Missense_Mutation_p.I322V|PLEKHA8_uc003tan.2_Missense_Mutation_p.I322V	NM_032639	NP_116028	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A	322					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(3)|ovary(1)	4						CTTTAGTGACATTGAACTTCT	0.413												
NEUROD6	63974	broad.mit.edu	37	7	31378410	31378410	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:31378410A>G	uc003tch.2	-	2	826	c.473T>C	c.(472-474)CTG>CCG	p.L158P		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	158					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						GAATGTGAGCAGATCTGGTCT	0.463												
KBTBD2	25948	broad.mit.edu	37	7	32909627	32909627	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:32909627C>A	uc003tdb.2	-	4	1861	c.1202G>T	c.(1201-1203)AGA>ATA	p.R401I	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	401	Kelch 2.										0			GBM - Glioblastoma multiforme(11;0.0499)			AGTGTCGTATCTTTCTACGGT	0.453												
EEPD1	80820	broad.mit.edu	37	7	36194488	36194488	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:36194488C>T	uc003tfa.2	+	2	1195	c.555C>T	c.(553-555)GCC>GCT	p.A185A		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	185					DNA repair		DNA binding				0						GTATCAATGCCGCCTTCCTGG	0.617												
TXNDC3	51314	broad.mit.edu	37	7	37890310	37890310	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:37890310C>T	uc003tfn.2	+	5	543	c.171C>T	c.(169-171)AAC>AAT	p.N57N		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	thioredoxin domain containing 3	57	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			ovary(1)|breast(1)|central_nervous_system(1)	3						ATGAACTGAACGAAGACGAAA	0.313									Kartagener_syndrome			
C7orf25	79020	broad.mit.edu	37	7	42949913	42949913	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:42949913T>C	uc003thw.2	-	2	1051	c.587A>G	c.(586-588)AAC>AGC	p.N196S	C7orf25_uc010kxq.2_Missense_Mutation_p.N196S|C7orf25_uc003thx.3_Missense_Mutation_p.N254S|C7orf25_uc010kxr.2_Missense_Mutation_p.N254S	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	196										skin(1)	1						TAACAGAGCGTTGACTGCTAC	0.468												
HECW1	23072	broad.mit.edu	37	7	43547711	43547711	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:43547711A>G	uc003tid.1	+	23	4452	c.3847A>G	c.(3847-3849)ACC>GCC	p.T1283A	HECW1_uc011kbi.1_Missense_Mutation_p.T1249A	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	1283	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GCTCTACGTCACCTTTGTTGG	0.522												
URGCP	55665	broad.mit.edu	37	7	43917048	43917048	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:43917048C>T	uc003tiw.2	-	6	2071	c.2014G>A	c.(2014-2016)GTC>ATC	p.V672I	URGCP_uc003tiu.2_Missense_Mutation_p.V629I|URGCP_uc003tiv.2_Missense_Mutation_p.V597I|URGCP_uc003tix.2_Missense_Mutation_p.V663I|URGCP_uc003tiy.2_Missense_Mutation_p.V629I|URGCP_uc003tiz.2_Missense_Mutation_p.V629I|URGCP_uc011kbj.1_Missense_Mutation_p.V629I	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	672					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4						ACCCAGCGGACGGGCATGCTC	0.647												
DBNL	28988	broad.mit.edu	37	7	44099178	44099178	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:44099178C>T	uc003tjp.3	+	11	1066	c.968C>T	c.(967-969)CCA>CTA	p.P323L	DBNL_uc003tjo.3_Missense_Mutation_p.P324L|DBNL_uc003tjr.3_Missense_Mutation_p.P196L|DBNL_uc003tjq.3_Missense_Mutation_p.P332L|DBNL_uc011kbm.1_Missense_Mutation_p.P299L|DBNL_uc011kbn.1_Missense_Mutation_p.P220L|DBNL_uc011kbo.1_Missense_Mutation_p.P224L|DBNL_uc011kbp.1_Missense_Mutation_p.P275L|DBNL_uc011kbq.1_Missense_Mutation_p.P248L|DBNL_uc011kbr.1_Missense_Mutation_p.P272L|DBNL_uc011kbs.1_Missense_Mutation_p.P228L	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	323					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						AGCACTCCTCCATGTCTGGTG	0.617												
ADCY1	107	broad.mit.edu	37	7	45750148	45750148	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:45750148T>A	uc003tne.3	+	19	2972	c.2954T>A	c.(2953-2955)GTG>GAG	p.V985E		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	985	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCCTGTGGTGGCTGGAGTG	0.577												
PKD1L1	168507	broad.mit.edu	37	7	47876598	47876598	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:47876598G>A	uc003tny.1	-	37	5864	c.5864C>T	c.(5863-5865)CCG>CTG	p.P1955L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1955	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGTGAGGCGCGGCGTGTGCAG	0.582												
PKD1L1	168507	broad.mit.edu	37	7	47917170	47917170	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:47917170G>A	uc003tny.1	-	22	3580	c.3580C>T	c.(3580-3582)CGG>TGG	p.R1194W		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1194	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GCCATGTCCCGAGGAGCCGGG	0.542												
POM121L12	285877	broad.mit.edu	37	7	53103537	53103537	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:53103537T>C	uc003tpz.2	+	1	189	c.173T>C	c.(172-174)CTG>CCG	p.L58P		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	58											0						CTGAGGTCCCTGACTCAGAGC	0.711												
LANCL2	55915	broad.mit.edu	37	7	55467786	55467786	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:55467786G>T	uc003tqp.2	+	4	1245	c.667G>T	c.(667-669)GCT>TCT	p.A223S		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2	223					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			ovary(1)|skin(1)	2	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTGTGAGTCAGCTATTAAAGA	0.453												
ZNF680	340252	broad.mit.edu	37	7	63982808	63982808	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:63982808T>C	uc003tta.2	-	4	497	c.324A>G	c.(322-324)ATA>ATG	p.I108M	ZNF680_uc010kzr.2_Missense_Mutation_p.I35M	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	zinc finger protein 680 isoform 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Lung NSC(55;0.118)|all_lung(88;0.243)				ATCCTCTCAGTATCACTTTTT	0.318												
WBSCR17	64409	broad.mit.edu	37	7	71036318	71036318	+	Silent	SNP	C	C	T	rs144325682		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:71036318C>T	uc003tvy.2	+	6	1011	c.1011C>T	c.(1009-1011)TTC>TTT	p.F337F	WBSCR17_uc003tvz.2_Silent_p.F36F	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	337	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAAGTTCTTCGGTGAAATTG	0.507												
MLXIPL	51085	broad.mit.edu	37	7	73008616	73008616	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:73008616C>T	uc003tyn.1	-	16	2476	c.2428G>A	c.(2428-2430)GCT>ACT	p.A810T	MLXIPL_uc003tyj.1_Missense_Mutation_p.A189T|MLXIPL_uc003tyk.1_Missense_Mutation_p.A789T|MLXIPL_uc003tyl.1_Missense_Mutation_p.A808T|MLXIPL_uc003tym.1_Missense_Mutation_p.A791T|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.A716T	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Williams Beuren syndrome chromosome region 14	810					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGCCGGAGAGCGGGCAGAGAG	0.627												
ELN	2006	broad.mit.edu	37	7	73456948	73456948	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:73456948C>T	uc003tzw.2	+	6	328	c.237C>T	c.(235-237)CTC>CTT	p.L79L	RFC2_uc011kfa.1_Intron|ELN_uc003tzm.1_RNA|ELN_uc011kfe.1_Intron|ELN_uc003tzn.2_Silent_p.L79L|ELN_uc003tzz.2_Silent_p.L67L|ELN_uc003tzo.2_Silent_p.L79L|ELN_uc003tzp.2_Silent_p.L69L|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_Silent_p.L79L|ELN_uc003tzt.2_Silent_p.L79L|ELN_uc003tzu.2_Silent_p.L79L|ELN_uc003tzv.2_Silent_p.L69L|ELN_uc003tzx.2_Silent_p.L69L|ELN_uc011kff.1_Silent_p.L79L|ELN_uc003tzy.2_Silent_p.L69L	NM_000501	NP_001075224	P15502	ELN_HUMAN	elastin isoform a precursor	79					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			ovary(3)|pancreas(2)	5		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCGCAGGGCTCGGCGCCTTCC	0.637			T	PAX5	B-ALL		Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome					
GTF2IRD2	84163	broad.mit.edu	37	7	74211440	74211440	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:74211440G>A	uc003ubd.1	-	16	2595	c.2411C>T	c.(2410-2412)GCC>GTC	p.A804V	GTF2IRD2_uc010lbt.1_Missense_Mutation_p.A351V	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						gggaaagtgggccagattatt	0												
HIP1	3092	broad.mit.edu	37	7	75178286	75178286	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:75178286C>T	uc003uds.1	-	23	2350	c.2309G>A	c.(2308-2310)AGG>AAG	p.R770K	HIP1_uc011kfz.1_Missense_Mutation_p.R647K	NM_005338	NP_005329	O00291	HIP1_HUMAN	huntingtin interacting protein 1	770					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						GTCCAGTCCCCTGGGCAGGAG	0.562			T	PDGFRB	CMML							
CCL24	6369	broad.mit.edu	37	7	75441248	75441248	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:75441248C>T	uc011kga.1	-	3	226	c.226G>A	c.(226-228)GAC>AAC	p.D76N		NM_002991	NP_002982	O00175	CCL24_HUMAN	small inducible cytokine A24 precursor	76					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity				0						TGCTTGGGGTCGCCACAGAAC	0.602												
FGL2	10875	broad.mit.edu	37	7	76825678	76825678	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:76825678A>G	uc003ugb.2	-	2	1278	c.1238T>C	c.(1237-1239)GTA>GCA	p.V413A	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	413	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						TGCCTCACTTACACCAGGCCA	0.438												
PION	54103	broad.mit.edu	37	7	76982304	76982304	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:76982304A>G	uc003ugf.2	-	18	1527	c.1448T>C	c.(1447-1449)ATG>ACG	p.M483T	PION_uc003ugg.1_Missense_Mutation_p.M268T	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	pigeon homolog	483					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			central_nervous_system(1)	1						TAGTTTGTCCATGTTACTTGT	0.368												
RSBN1L	222194	broad.mit.edu	37	7	77379031	77379031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:77379031C>T	uc010ldt.1	+	3	1038	c.994C>T	c.(994-996)CGA>TGA	p.R332*	RSBN1L_uc003ugm.2_Nonsense_Mutation_p.R114*	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	332						nucleus				ovary(1)	1						AAAGGAGCCACGAGTTCAGAA	0.383												
RSBN1L	222194	broad.mit.edu	37	7	77408242	77408242	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:77408242T>C	uc010ldt.1	+	8	2342	c.2298T>C	c.(2296-2298)CCT>CCC	p.P766P	RSBN1L_uc003ugm.2_Silent_p.P548P	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	766						nucleus				ovary(1)	1						AGGAAGAACCTGTGAATGTTA	0.318												
MAGI2	9863	broad.mit.edu	37	7	77807330	77807330	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:77807330G>A	uc003ugx.2	-	14	2655	c.2401C>T	c.(2401-2403)CCT>TCT	p.P801S	MAGI2_uc003ugy.2_Missense_Mutation_p.P787S|MAGI2_uc010ldx.1_Missense_Mutation_p.P394S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	801	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAACTTACAGGCTGTCCAGGC	0.418												
SEMA3A	10371	broad.mit.edu	37	7	83606510	83606510	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:83606510C>T	uc003uhz.2	-	15	1970	c.1655G>A	c.(1654-1656)CGC>CAC	p.R552H		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	552					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TCGTCTTGTGCGTCTGAAGCA	0.328												
GRM3	2913	broad.mit.edu	37	7	86468893	86468893	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:86468893A>G	uc003uid.2	+	4	3162	c.2063A>G	c.(2062-2064)CAG>CGG	p.Q688R	GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.Q560R|GRM3_uc010leh.2_Missense_Mutation_p.Q280R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	688	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCCAGTTCTCAGGTTTTCATC	0.542												
C7orf64	84060	broad.mit.edu	37	7	92161755	92161755	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:92161755G>A	uc003ulz.2	+	3	381	c.340G>A	c.(340-342)GGT>AGT	p.G114S	C7orf64_uc011khu.1_Missense_Mutation_p.G114S|C7orf64_uc003uma.2_Missense_Mutation_p.G114S	NM_032120	NP_115496	Q5RL73	CG064_HUMAN	hypothetical protein LOC84060	114							nucleotide binding			ovary(2)	2						GAGTTTCTTCGGTGGATTGCT	0.353												
SAMD9	54809	broad.mit.edu	37	7	92731909	92731909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:92731909G>A	uc003umf.2	-	3	3758	c.3502C>T	c.(3502-3504)CAG>TAG	p.Q1168*	SAMD9_uc003umg.2_Nonsense_Mutation_p.Q1168*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1168						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCACTTTGCTGTTGAGATTCT	0.383												
COL1A2	1278	broad.mit.edu	37	7	94045723	94045723	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:94045723C>T	uc003ung.1	+	31	2242	c.1771C>T	c.(1771-1773)CGC>TGC	p.R591C	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	591					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCAGGGGGAACGCGGTCCCCC	0.493										HNSCC(75;0.22)		
PON2	5445	broad.mit.edu	37	7	95039303	95039303	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:95039303G>T	uc003unv.2	-	6	726	c.605C>A	c.(604-606)GCA>GAA	p.A202E	PON2_uc003unu.2_Missense_Mutation_p.A190E|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.A115E	NM_000305	NP_000296	Q15165	PON2_HUMAN	paraoxonase 2 isoform 1	202					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			AACAACATTTGCCCAGTGTAA	0.388												
DYNC1I1	1780	broad.mit.edu	37	7	95709775	95709775	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:95709775G>A	uc003uoc.3	+	16	2079	c.1802G>A	c.(1801-1803)CGT>CAT	p.R601H	DYNC1I1_uc003uod.3_Missense_Mutation_p.R584H|DYNC1I1_uc003uob.2_Missense_Mutation_p.R564H|DYNC1I1_uc003uoe.3_Missense_Mutation_p.R581H|DYNC1I1_uc010lfl.2_Missense_Mutation_p.R590H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	601	WD 7.				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			ovary(3)|kidney(1)	4	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCGGAAGGCCGTATTTGGGTC	0.473												
BAIAP2L1	55971	broad.mit.edu	37	7	97946626	97946626	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:97946626C>T	uc003upj.2	-	6	654	c.391G>A	c.(391-393)GAG>AAG	p.E131K		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	131	Potential.|IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			ovary(1)	1	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAAAGACTCTAATTTATTC	0.393												
CPSF4	10898	broad.mit.edu	37	7	99042416	99042416	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:99042416G>A	uc003uqj.2	+	2	251	c.108G>A	c.(106-108)TCG>TCA	p.S36S	PTCD1_uc011kiw.1_Intron|CPSF4_uc003uqi.2_Silent_p.S36S|CPSF4_uc003uqk.2_Silent_p.S36S|CPSF4_uc011kix.1_5'UTR	NM_006693	NP_006684	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4,	36	C3H1-type 1.				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTACAGAGTCGGGCGCTGCTG	0.527												
MUC17	140453	broad.mit.edu	37	7	100679802	100679802	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100679802T>C	uc003uxp.1	+	3	5158	c.5105T>C	c.(5104-5106)GTG>GCG	p.V1702A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1702	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|26.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACACCGGTGGCCAGCTCT	0.473												
PLOD3	8985	broad.mit.edu	37	7	100855554	100855554	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100855554G>A	uc003uyd.2	-	10	1563	c.1107C>T	c.(1105-1107)GGC>GGT	p.G369G	PLOD3_uc010lhs.2_5'UTR	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	369					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTGGCCTCGCCTGGGCTCA	0.662												
PLOD3	8985	broad.mit.edu	37	7	100859469	100859469	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100859469C>T	uc003uyd.2	-	4	933	c.477G>A	c.(475-477)ACG>ACA	p.T159T	ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	159					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCGCTTCCCCGTGCCCACCT	0.632												
EMID2	136227	broad.mit.edu	37	7	101187338	101187338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:101187338C>T	uc010lhy.1	+	6	850	c.658C>T	c.(658-660)CGA>TGA	p.R220*	EMID2_uc003uyo.1_Nonsense_Mutation_p.R222*	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	EMI domain containing 2	222	Collagen-like 1.					collagen				ovary(1)	1	Lung NSC(181;0.215)					TAAAGGTGACCGAGGCCAGAC	0.637												
RELN	5649	broad.mit.edu	37	7	103234873	103234873	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:103234873G>A	uc003vca.2	-	26	3766	c.3606C>T	c.(3604-3606)CCC>CCT	p.P1202P	RELN_uc010liz.2_Silent_p.P1202P	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1202					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAGAACACGGGCTGCCACC	0.488												
RELN	5649	broad.mit.edu	37	7	103322570	103322570	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:103322570G>A	uc003vca.2	-	11	1442	c.1282C>T	c.(1282-1284)CCT>TCT	p.P428S	RELN_uc010liz.2_Missense_Mutation_p.P428S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	428					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACCCTGTAGGCTGGCTCTCA	0.408												
SRPK2	6733	broad.mit.edu	37	7	104773248	104773248	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:104773248G>A	uc003vct.2	-	12	1896	c.1709C>T	c.(1708-1710)ACG>ATG	p.T570M	SRPK2_uc003vcu.2_Missense_Mutation_p.T570M|SRPK2_uc003vcv.2_Missense_Mutation_p.T581M|SRPK2_uc003vcs.1_RNA	NM_182691	NP_872633	P78362	SRPK2_HUMAN	serine/arginine-rich protein-specific kinase 2	570	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						CATACACGCCGTGCTCCAGAT	0.562												
SLC26A3	1811	broad.mit.edu	37	7	107418725	107418725	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:107418725A>C	uc003ver.2	-	13	1620	c.1409T>G	c.(1408-1410)TTA>TGA	p.L470*	SLC26A3_uc003ves.2_Nonsense_Mutation_p.L435*	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	470	Helical; (Potential).				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						GATCCAAATTAACTGTGAAAA	0.388												
NRCAM	4897	broad.mit.edu	37	7	107820828	107820828	+	Missense_Mutation	SNP	C	C	T	rs151029926	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:107820828C>T	uc003vfb.2	-	25	3161	c.2690G>A	c.(2689-2691)CGT>CAT	p.R897H	NRCAM_uc003vfc.2_Missense_Mutation_p.R881H|NRCAM_uc011kmk.1_Missense_Mutation_p.R892H|NRCAM_uc003vfd.2_Missense_Mutation_p.R873H|NRCAM_uc003vfe.2_Missense_Mutation_p.R873H	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	897	Fibronectin type-III 3.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CTCAATGTGACGTCTGTTTCT	0.448												
DOCK4	9732	broad.mit.edu	37	7	111386418	111386418	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:111386418G>A	uc003vfx.2	-	43	4891	c.4622C>T	c.(4621-4623)GCA>GTA	p.A1541V	DOCK4_uc011kml.1_Missense_Mutation_p.A422V|DOCK4_uc011kmm.1_Missense_Mutation_p.A448V|DOCK4_uc003vfw.2_Missense_Mutation_p.A991V|DOCK4_uc003vfy.2_Missense_Mutation_p.A1586V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1541	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCTTAATCGTGCAATTTTCTC	0.453												
DOCK4	9732	broad.mit.edu	37	7	111629126	111629126	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:111629126G>A	uc003vfx.2	-	6	677	c.408C>T	c.(406-408)CAC>CAT	p.H136H	DOCK4_uc003vfy.2_Silent_p.H136H|DOCK4_uc003vga.1_Translation_Start_Site|DOCK4_uc010ljt.1_Silent_p.H136H|DOCK4_uc003vgb.1_Silent_p.H60H	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	136					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TCATCCGGTCGTGGGTGAGGT	0.562												
CFTR	1080	broad.mit.edu	37	7	117282581	117282581	+	Silent	SNP	C	C	T	rs1800129		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:117282581C>T	uc003vjd.2	+	23	3939	c.3807C>T	c.(3805-3807)ATC>ATT	p.I1269I	CFTR_uc011knq.1_Silent_p.I675I	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1269	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAATCCAGATCGATGGTGTGT	0.438									Cystic_Fibrosis			
GPR37	2861	broad.mit.edu	37	7	124387030	124387030	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:124387030A>G	uc003vli.2	-	2	2042	c.1391T>C	c.(1390-1392)GTG>GCG	p.V464A		NM_005302	NP_005293	O15354	GPR37_HUMAN	G protein-coupled receptor 37 precursor	464	Helical; Name=5; (Potential).					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)|lung(1)|central_nervous_system(1)	3						CCTCGCAGTCACTAGAGAGCA	0.483												
GRM8	2918	broad.mit.edu	37	7	126173169	126173169	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:126173169C>T	uc003vlr.2	-	8	2578	c.2267G>A	c.(2266-2268)AGT>AAT	p.S756N	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S756N|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	756	Helical; Name=5; (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAAGAGGATACTGTATCCAAG	0.438										HNSCC(24;0.065)		
IMPDH1	3614	broad.mit.edu	37	7	128040160	128040160	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:128040160C>T	uc011kol.1	-	6	714	c.608G>A	c.(607-609)CGT>CAT	p.R203H	IMPDH1_uc011kom.1_Missense_Mutation_p.R198H|IMPDH1_uc003vmt.2_Missense_Mutation_p.R178H|IMPDH1_uc003vmu.2_Missense_Mutation_p.R288H|IMPDH1_uc003vmw.2_Missense_Mutation_p.R278H|IMPDH1_uc011kon.1_Missense_Mutation_p.R255H|IMPDH1_uc003vmv.2_Missense_Mutation_p.R252H|IMPDH1_uc003vmx.2_Missense_Mutation_p.R211H|IMPDH1_uc003vmy.2_Missense_Mutation_p.R219H	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	inosine monophosphate dehydrogenase 1 isoform e	203	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TTTCTTGCTACGCTGCAGGAT	0.537												
SMO	6608	broad.mit.edu	37	7	128845572	128845572	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:128845572G>A	uc003vor.2	+	4	1149	c.869G>A	c.(868-870)CGC>CAC	p.R290H	SMO_uc003vos.2_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	smoothened precursor	290	Extracellular (Potential).				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R290S(1)		skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						GATGGTGCCCGCCGAGAGATC	0.582			Mis		skin basal cell 							
FAM40B	57464	broad.mit.edu	37	7	129096460	129096460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:129096460C>T	uc011koy.1	+	9	1055	c.1015C>T	c.(1015-1017)CGA>TGA	p.R339*	FAM40B_uc003vow.2_Nonsense_Mutation_p.R339*|FAM40B_uc011koz.1_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	339											0						CTCCAAGCTGCGAGGCCGCCG	0.567												
CPA1	1357	broad.mit.edu	37	7	130023575	130023575	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:130023575C>A	uc003vpx.2	+	6	708	c.636C>A	c.(634-636)ACC>ACA	p.T212T	CPA1_uc011kpf.1_Silent_p.T124T|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	carboxypeptidase A1 precursor	212					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(1)	1	Melanoma(18;0.0435)					TTCTCGACACCTTGGACATCT	0.607												
WDR91	29062	broad.mit.edu	37	7	134878329	134878329	+	Splice_Site	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:134878329C>T	uc003vsp.2	-	10	1552	c.1490_splice	c.e10+1	p.R497_splice	WDR91_uc010lmq.2_Splice_Site_p.R86_splice|WDR91_uc010lmr.2_Splice_Site	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	WD repeat domain 91											breast(2)|ovary(1)|skin(1)	4						TTCCAGTTCACCTGGGCATGT	0.567												
NUP205	23165	broad.mit.edu	37	7	135310080	135310080	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:135310080C>T	uc003vsw.2	+	32	4679	c.4648C>T	c.(4648-4650)CTT>TTT	p.L1550F	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1550					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						TTTAAAAGCACTTTATACTTA	0.378												
CHRM2	1129	broad.mit.edu	37	7	136699678	136699678	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:136699678A>T	uc003vtf.1	+	4	689	c.66A>T	c.(64-66)GAA>GAT	p.E22D	CHRM2_uc003vtg.1_Missense_Mutation_p.E22D|CHRM2_uc003vtj.1_Missense_Mutation_p.E22D|CHRM2_uc003vtk.1_Missense_Mutation_p.E22D|CHRM2_uc003vtl.1_Missense_Mutation_p.E22D|CHRM2_uc003vtm.1_Missense_Mutation_p.E22D|CHRM2_uc003vti.1_Missense_Mutation_p.E22D|CHRM2_uc003vto.1_Missense_Mutation_p.E22D|CHRM2_uc003vtn.1_Missense_Mutation_p.E22D|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	22	Extracellular (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	AGACATTTGAAGTGGTGTTTA	0.423												
DGKI	9162	broad.mit.edu	37	7	137531226	137531226	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:137531226C>T	uc003vtt.2	-	1	384	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	DGKI_uc003vtu.2_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	128					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3						GACCTGCTTCCGGAAAGTTAA	0.597												
TRIM24	8805	broad.mit.edu	37	7	138239681	138239681	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:138239681G>A	uc003vuc.2	+	9	1715	c.1500G>A	c.(1498-1500)GGG>GGA	p.G500G	TRIM24_uc003vub.2_Intron	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	500					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						GAATGCAGGGGCCCATCCAGC	0.468												
SVOPL	136306	broad.mit.edu	37	7	138312134	138312134	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:138312134G>A	uc011kqh.1	-	11	1142	c.1142C>T	c.(1141-1143)ACG>ATG	p.T381M	SVOPL_uc003vue.2_Missense_Mutation_p.T229M	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	381						integral to membrane	transmembrane transporter activity				0						GAATAAAGCCGTGCATCCCAT	0.393												
SVOPL	136306	broad.mit.edu	37	7	138312137	138312137	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:138312137C>T	uc011kqh.1	-	11	1139	c.1139G>A	c.(1138-1140)TGC>TAC	p.C380Y	SVOPL_uc003vue.2_Missense_Mutation_p.C228Y	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	380						integral to membrane	transmembrane transporter activity				0						TAAAGCCGTGCATCCCATGGT	0.393												
PARP12	64761	broad.mit.edu	37	7	139726084	139726084	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:139726084C>T	uc003vvl.1	-	11	2567	c.1693G>A	c.(1693-1695)GGC>AGC	p.G565S	PARP12_uc003vvk.1_Missense_Mutation_p.G351S|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	565	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)					GCGCTGGTGCCGTGGAACAGC	0.562												
JHDM1D	80853	broad.mit.edu	37	7	139797360	139797360	+	Silent	SNP	G	G	A	rs148957004	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:139797360G>A	uc003vvm.2	-	15	2005	c.2001C>T	c.(1999-2001)CCC>CCT	p.P667P	JHDM1D_uc010lng.2_RNA	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	667					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1	Melanoma(164;0.0142)					CAGTGCACTCGGGTCCGGAGT	0.453												
SSBP1	6742	broad.mit.edu	37	7	141443388	141443388	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:141443388G>A	uc003vwo.1	+	4	191	c.113G>A	c.(112-114)CGA>CAA	p.R38Q	SSBP1_uc011kri.1_Missense_Mutation_p.R38Q|SSBP1_uc010lnp.1_Missense_Mutation_p.R38Q	NM_003143	NP_003134	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1 precursor	38	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			ovary(1)	1	Melanoma(164;0.0171)					TTACTTGGGCGAGTGGGTCAG	0.373												
OR6V1	346517	broad.mit.edu	37	7	142750155	142750155	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:142750155G>A	uc011ksv.1	+	1	718	c.718G>A	c.(718-720)GGG>AGG	p.G240R		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.059)					CTCCACTTGCGGGTCTCACCT	0.557												
ZNF786	136051	broad.mit.edu	37	7	148767797	148767797	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:148767797C>T	uc003wfh.2	-	4	2204	c.2067G>A	c.(2065-2067)GCG>GCA	p.A689A	ZNF786_uc011kuk.1_Silent_p.A652A|ZNF786_uc003wfi.2_Silent_p.A603A	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	689	C2H2-type 14.				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)			TGAGCAGCTGCGCCTTCAGGC	0.557												
ZNF777	27153	broad.mit.edu	37	7	149152575	149152575	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:149152575G>A	uc003wfv.2	-	2	702	c.539C>T	c.(538-540)ACG>ATG	p.T180M		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GATCTCTGCCGTGGGGAGCGG	0.627												
SSPO	23145	broad.mit.edu	37	7	149522173	149522173	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:149522173T>C	uc010lpk.2	+	97	13960	c.13960T>C	c.(13960-13962)TGG>CGG	p.W4654R	SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	4654	TSP type-1 23.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGGAGCCATGGGCTCAAGA	0.652												
GIMAP8	155038	broad.mit.edu	37	7	150164369	150164369	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150164369A>G	uc003whj.2	+	2	913	c.583A>G	c.(583-585)ACG>GCG	p.T195A		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	195						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTTGGTGAATACGAACGGAGG	0.423												
ASB10	136371	broad.mit.edu	37	7	150878203	150878203	+	Silent	SNP	G	G	A	rs144099189		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150878203G>A	uc003wjm.1	-	3	1188	c.1062C>T	c.(1060-1062)GTC>GTT	p.V354V	ASB10_uc003wjl.1_Silent_p.V354V|ASB10_uc003wjn.1_Silent_p.V294V	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	309	ANK 6.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCTCCACGACAGCTGCAT	0.657												
PAXIP1	22976	broad.mit.edu	37	7	154767562	154767562	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:154767562A>G	uc003wlp.2	-	6	961	c.918T>C	c.(916-918)CCT>CCC	p.P306P	PAXIP1_uc003wlq.1_Silent_p.P272P|PAXIP1_uc011kvs.1_Silent_p.P270P|PAXIP1_uc003wlr.1_Silent_p.P215P	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	306					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CCCGGACCTCAGGGGGCAAAA	0.512												
HTR5A	3361	broad.mit.edu	37	7	154862882	154862882	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:154862882G>A	uc003wlu.1	+	1	337	c.273G>A	c.(271-273)GCG>GCA	p.A91A	uc011kvt.1_Silent_p.S44S|uc003wlt.2_Silent_p.S44S	NM_024012	NP_076917	P47898	5HT5A_HUMAN	5-hydroxytryptamine receptor 5A	91	Helical; Name=2; (By similarity).					integral to plasma membrane	serotonin receptor activity			ovary(2)|large_intestine(1)	3	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGGTGGCCGCGCTGGTCATGC	0.672												
RBM33	155435	broad.mit.edu	37	7	155504033	155504033	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:155504033C>A	uc010lqk.1	+	8	1453	c.1085C>A	c.(1084-1086)CCT>CAT	p.P362H	RBM33_uc011kvv.1_Missense_Mutation_p.P171H	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	362	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGCACATGCCTCCCCAGCTA	0.632												
WDR60	55112	broad.mit.edu	37	7	158738439	158738439	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:158738439C>A	uc003woe.3	+	25	3328	c.3170C>A	c.(3169-3171)GCC>GAC	p.A1057D	WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Missense_Mutation_p.A689D	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1057										ovary(2)|breast(1)|central_nervous_system(1)	4	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTGCAGGAAGCCCTGTGGCCA	0.572												
MYOM2	9172	broad.mit.edu	37	8	2040189	2040189	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:2040189C>T	uc003wpx.3	+	16	1982	c.1844C>T	c.(1843-1845)CCG>CTG	p.P615L	MYOM2_uc011kwi.1_Missense_Mutation_p.P40L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	615	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTTCTGCTCCGGGTCGGGTT	0.557												
CSMD1	64478	broad.mit.edu	37	8	3889462	3889462	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:3889462C>T	uc011kwk.1	-	4	965	c.575G>A	c.(574-576)GGT>GAT	p.G192D		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	192	Extracellular (Potential).|Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACGATGCACCATTTCCTGG	0.552												
DEFA4	1669	broad.mit.edu	37	8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:6793553G>A	uc003wqu.1	-	3	334	c.283C>T	c.(283-285)CGT>TGT	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	defensin, alpha 4 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				large_intestine(1)	1				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507												
MFHAS1	9258	broad.mit.edu	37	8	8749154	8749154	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:8749154C>T	uc003wsj.1	-	1	1978	c.1415G>A	c.(1414-1416)CGG>CAG	p.R472Q		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified	472	Roc.										0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CACGATGAACCGCAGGCCCCG	0.612												
MTMR9	66036	broad.mit.edu	37	8	11157581	11157581	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:11157581G>A	uc003wtm.2	+	3	739	c.341G>A	c.(340-342)CGT>CAT	p.R114H	MTMR9_uc010lrx.2_Missense_Mutation_p.R7H|MTMR9_uc011kxa.1_Missense_Mutation_p.R29H	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	114						cytoplasm	phosphatase activity|protein binding				0			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TTCTTTTACCGTCCTATGTTT	0.408												
GATA4	2626	broad.mit.edu	37	8	11565838	11565838	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:11565838C>T	uc003wuc.2	+	2	571	c.17C>T	c.(16-18)GCC>GTC	p.A6V	GATA4_uc011kxb.1_Missense_Mutation_p.A6V|GATA4_uc003wub.1_Intron|GATA4_uc010lrz.1_Missense_Mutation_p.A6V|GATA4_uc011kxc.1_Missense_Mutation_p.A6V	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	6					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAGAGCTTGGCCATGGCCGCC	0.706												
C8orf79	57604	broad.mit.edu	37	8	12863855	12863855	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:12863855C>T	uc010lsq.2	+	3	636	c.144C>T	c.(142-144)ATC>ATT	p.I48I	C8orf79_uc011kxw.1_Silent_p.I48I	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	48							methyltransferase activity				0						GCAGCCTCATCGCTGACATAG	0.567												
DLC1	10395	broad.mit.edu	37	8	12956932	12956932	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:12956932T>C	uc003wwm.2	-	9	3358	c.2914A>G	c.(2914-2916)AAT>GAT	p.N972D	DLC1_uc003wwk.1_Missense_Mutation_p.N535D|DLC1_uc003wwl.1_Missense_Mutation_p.N569D|DLC1_uc011kxx.1_Missense_Mutation_p.N461D	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	972					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						TCCGGTTCATTCAGGGAGTTG	0.577												
MTMR7	9108	broad.mit.edu	37	8	17188712	17188712	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:17188712A>G	uc003wxm.2	-	7	1051	c.812T>C	c.(811-813)ATC>ACC	p.I271T	MTMR7_uc003wxn.2_Missense_Mutation_p.I50T	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	271	Myotubularin phosphatase.						protein tyrosine phosphatase activity			skin(1)	1				Colorectal(111;0.112)		CTCTATCCCGATAAACTGAAA	0.393												
INTS10	55174	broad.mit.edu	37	8	19684046	19684046	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:19684046A>G	uc003wzj.2	+	9	1247	c.1116A>G	c.(1114-1116)CTA>CTG	p.L372L		NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	372					snRNA processing	integrator complex	protein binding			ovary(1)	1				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGAGGAAACTAGCTGAAGGAA	0.373												
GFRA2	2675	broad.mit.edu	37	8	21560457	21560457	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:21560457C>T	uc003wzu.1	-	7	1753	c.1078G>A	c.(1078-1080)GAC>AAC	p.D360N	GFRA2_uc003wzv.1_Missense_Mutation_p.D255N|GFRA2_uc003wzw.1_Missense_Mutation_p.D227N	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	360						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACGTTCACGTCCGTGCCGTTG	0.622												
EGR3	1960	broad.mit.edu	37	8	22548299	22548299	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:22548299C>T	uc003xcm.1	-	2	1209	c.851G>A	c.(850-852)CGC>CAC	p.R284H	EGR3_uc011kzn.1_Missense_Mutation_p.R246H|EGR3_uc011kzo.1_Missense_Mutation_p.R230H	NM_004430	NP_004421	Q06889	EGR3_HUMAN	early growth response 3	284	C2H2-type 1.				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTGAAACGGCGGTCGCAGCC	0.697												
ENTPD4	9583	broad.mit.edu	37	8	23290492	23290492	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:23290492C>T	uc003xdl.2	-	13	1962	c.1798G>A	c.(1798-1800)GCC>ACC	p.A600T	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Missense_Mutation_p.A592T	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	600	Cytoplasmic (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)		ATCCAGAGGGCGGCGGCCGAG	0.642												
ADAM7	8756	broad.mit.edu	37	8	24349444	24349444	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24349444C>T	uc003xeb.2	+	14	1498	c.1385C>T	c.(1384-1386)CCG>CTG	p.P462L	ADAM7_uc003xec.2_Missense_Mutation_p.P234L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	462	Disintegrin.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATATGCAGACCGGCGAAAGAT	0.438												
NEFM	4741	broad.mit.edu	37	8	24771390	24771390	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24771390C>A	uc003xed.3	+	1	117	c.84C>A	c.(82-84)AGC>AGA	p.S28R	NEFM_uc011lac.1_Missense_Mutation_p.S28R|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	28	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCGCGTCAGCGGCTCCCCGT	0.697												
NEFL	4747	broad.mit.edu	37	8	24813101	24813101	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24813101C>T	uc003xee.2	-	1	1031	c.929G>A	c.(928-930)CGT>CAT	p.R310H		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	310	Rod.|Coil 2B.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTTGAGCAGACGACGGCTCTC	0.632												
NEFL	4747	broad.mit.edu	37	8	24813732	24813732	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:24813732G>A	uc003xee.2	-	1	400	c.298C>T	c.(298-300)CGC>TGC	p.R100C		NM_006158	NP_006149	P07196	NFL_HUMAN	neurofilament, light polypeptide 68kDa	100	Rod.|Coil 1A.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)	2		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGGCGAAGCGGTCATTGAGG	0.627												
CDCA2	157313	broad.mit.edu	37	8	25323825	25323825	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:25323825C>T	uc003xep.1	+	5	1001	c.522C>T	c.(520-522)TCC>TCT	p.S174S	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_Silent_p.S174S|CDCA2_uc003xeq.1_Silent_p.S159S|CDCA2_uc003xer.1_5'Flank	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	174					cell division|mitosis	cytoplasm|nucleus					0		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAAAAGAGTCCGAGATGACAG	0.383												
EBF2	64641	broad.mit.edu	37	8	25902265	25902265	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:25902265G>A	uc003xes.1	-	1	128	c.111C>T	c.(109-111)GAC>GAT	p.D37D	PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Silent_p.D37D	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	early B-cell factor 2	37					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)		CGACATTAGCGTCCACCACTC	0.577												
ESCO2	157570	broad.mit.edu	37	8	27634065	27634065	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:27634065G>A	uc003xgg.2	+	3	323	c.240G>A	c.(238-240)GCG>GCA	p.A80A	ESCO2_uc010luy.1_RNA|ESCO2_uc003xgh.2_Silent_p.A80A	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	80					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TTAAATCTGCGCTCTCCACTG	0.373									SC_Phocomelia_syndrome			
ZNF395	55893	broad.mit.edu	37	8	28206714	28206714	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:28206714G>T	uc003xgq.2	-	9	1446	c.1358C>A	c.(1357-1359)CCC>CAC	p.P453H	ZNF395_uc003xgt.2_Missense_Mutation_p.P453H|ZNF395_uc003xgr.2_Missense_Mutation_p.P453H|ZNF395_uc003xgs.2_Missense_Mutation_p.P453H	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	453					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGGCTGCTGGGGCTCGCTGAA	0.617												
ADRB3	155	broad.mit.edu	37	8	37823754	37823754	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:37823754C>T	uc003xkr.1	-	1	431	c.234G>A	c.(232-234)TCG>TCA	p.S78S		NM_000025	NP_000016	P13945	ADRB3_HUMAN	adrenergic, beta-3-, receptor	78	Helical; Name=2; (By similarity).				carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade	integral to plasma membrane|receptor complex	beta3-adrenergic receptor activity|protein homodimerization activity			lung(2)	2	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571)	CTGCGGCCAGCGAAGTCACGA	0.692												
PLEKHA2	59339	broad.mit.edu	37	8	38793535	38793535	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:38793535T>C	uc003xmi.3	+	3	399	c.165T>C	c.(163-165)GCT>GCC	p.A55A	PLEKHA2_uc011lce.1_Silent_p.A5A	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A	55	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding				0		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGGCAGGAGCTGTTGGAGCTT	0.348												
SFRP1	6422	broad.mit.edu	37	8	41166309	41166309	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:41166309G>A	uc003xnt.2	-	1	672	c.370C>T	c.(370-372)CGG>TGG	p.R124W		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	124	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TAGATGGGCCGGTCCAGGCAG	0.657												
GINS4	84296	broad.mit.edu	37	8	41397521	41397521	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:41397521C>T	uc003xnx.2	+	6	692	c.482C>T	c.(481-483)GCA>GTA	p.A161V	GINS4_uc003xny.2_Missense_Mutation_p.A161V	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4	161					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				skin(1)	1	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTCTTTCGGGCAGGTAAACAG	0.493												
SLC20A2	6575	broad.mit.edu	37	8	42294538	42294538	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:42294538C>T	uc010lxl.2	-	8	2186	c.1492G>A	c.(1492-1494)GGG>AGG	p.G498R	SLC20A2_uc010lxm.2_Missense_Mutation_p.G498R|SLC20A2_uc003xpe.2_Missense_Mutation_p.G498R|SLC20A2_uc011lcu.1_Missense_Mutation_p.G300R	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	498	Helical; (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCAAAGGACCCGAAACAGGCG	0.612												
SGK196	84197	broad.mit.edu	37	8	42977374	42977374	+	Missense_Mutation	SNP	C	C	T	rs138216719		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:42977374C>T	uc003xpw.2	+	5	666	c.407C>T	c.(406-408)ACG>ATG	p.T136M		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	136	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0						CATGTTGTCACGCTGCTTGGC	0.453												
PRKDC	5591	broad.mit.edu	37	8	48746918	48746918	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:48746918G>A	uc003xqi.2	-	60	8048	c.7991C>T	c.(7990-7992)ACT>ATT	p.T2664I	PRKDC_uc003xqj.2_Missense_Mutation_p.T2664I|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2664	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CAGCGGGTCAGTGCTGCTCCC	0.562								NHEJ				
PXDNL	137902	broad.mit.edu	37	8	52384839	52384839	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:52384839C>T	uc003xqu.3	-	8	821	c.720G>A	c.(718-720)CCG>CCA	p.P240P		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	240	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCACATCCTGCGGCTCAAAAG	0.423												
NPBWR1	2831	broad.mit.edu	37	8	53853402	53853402	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:53853402C>T	uc011ldu.1	+	1	935	c.935C>T	c.(934-936)GCC>GTC	p.A312V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	312	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTCCTGGACGCCAGCTTCCGC	0.657												
OPRK1	4986	broad.mit.edu	37	8	54147537	54147537	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:54147537C>T	uc003xrh.1	-	2	767	c.392G>A	c.(391-393)TGC>TAC	p.C131Y	OPRK1_uc003xri.1_Missense_Mutation_p.C131Y|OPRK1_uc010lyc.1_Missense_Mutation_p.C42Y	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	131	Extracellular (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TACTATCTTGCACAGCACATC	0.463												
MOS	4342	broad.mit.edu	37	8	57026480	57026480	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:57026480G>A	uc011leb.1	-	1	62	c.62C>T	c.(61-63)GCG>GTG	p.A21V		NM_005372	NP_005363	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene	21							ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|ovary(1)|central_nervous_system(1)	4			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCAGGGCCGCGCGTCCACCGA	0.706												
CHD7	55636	broad.mit.edu	37	8	61743069	61743069	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61743069C>T	uc003xue.2	+	15	4188	c.3711C>T	c.(3709-3711)AAC>AAT	p.N1237N		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1237					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTCAAGCTAACGTACCTAACC	0.413												
CHD7	55636	broad.mit.edu	37	8	61748719	61748719	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61748719C>T	uc003xue.2	+	16	4343	c.3866C>T	c.(3865-3867)GCT>GTT	p.A1289V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1289					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATCCAGGCTGCTGGCAAGCTA	0.488												
CHD7	55636	broad.mit.edu	37	8	61749516	61749516	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61749516C>T	uc003xue.2	+	17	4607	c.4130C>T	c.(4129-4131)GCT>GTT	p.A1377V		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1377	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACCTCACTGCTGCTGATACC	0.453												
CHD7	55636	broad.mit.edu	37	8	61777588	61777588	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:61777588A>G	uc003xue.2	+	38	8567	c.8090A>G	c.(8089-8091)GAG>GGG	p.E2697G		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2697					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTTGTTCCTGAGTCGATGTTT	0.552												
ASPH	444	broad.mit.edu	37	8	62475336	62475336	+	Silent	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:62475336T>C	uc003xuj.2	-	18	1673	c.1404A>G	c.(1402-1404)GGA>GGG	p.G468G	ASPH_uc011leg.1_Silent_p.G439G|ASPH_uc003xuo.2_Silent_p.G449G	NM_004318	NP_004309	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase isoform a	468	TPR 2.|Lumenal (Potential).				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGTCATTATCTCCTATCAAGA	0.348												
MTFR1	9650	broad.mit.edu	37	8	66582207	66582207	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:66582207G>A	uc003xvm.2	+	2	232	c.20G>A	c.(19-21)CGC>CAC	p.R7H	MTFR1_uc011lep.1_Missense_Mutation_p.R7H|MTFR1_uc003xvn.2_Missense_Mutation_p.R7H|MTFR1_uc003xvo.1_5'UTR	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1 isoform 1	7						mitochondrion|plasma membrane				pancreas(1)	1			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGGATTAAGCGCCTAATTAGG	0.368												
C8orf34	116328	broad.mit.edu	37	8	69552649	69552649	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:69552649C>T	uc010lyz.2	+	8	935	c.886C>T	c.(886-888)CTG>TTG	p.L296L	C8orf34_uc003xyb.2_Silent_p.L271L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	296					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGTAACAACCCTGGTACCTTC	0.418												
SULF1	23213	broad.mit.edu	37	8	70540063	70540063	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:70540063G>T	uc010lza.1	+	17	2721	c.2004G>T	c.(2002-2004)AAG>AAT	p.K668N	SULF1_uc003xyd.2_Missense_Mutation_p.K668N|SULF1_uc003xye.2_Missense_Mutation_p.K668N|SULF1_uc003xyf.2_Missense_Mutation_p.K668N|SULF1_uc003xyg.2_Missense_Mutation_p.K668N|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	668					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GACATCTGAAGAGAAGGAAGC	0.398												
STAU2	27067	broad.mit.edu	37	8	74526053	74526053	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:74526053T>A	uc003xzm.2	-	9	1053	c.817A>T	c.(817-819)AAA>TAA	p.K273*	STAU2_uc011lfg.1_Nonsense_Mutation_p.K101*|STAU2_uc003xzn.2_Nonsense_Mutation_p.K241*|STAU2_uc011lfh.1_Nonsense_Mutation_p.K169*|STAU2_uc003xzo.2_Nonsense_Mutation_p.K273*|STAU2_uc003xzp.2_Nonsense_Mutation_p.K241*|STAU2_uc011lfi.1_Nonsense_Mutation_p.K235*|STAU2_uc003xzq.2_Nonsense_Mutation_p.K53*|STAU2_uc010lzk.2_Nonsense_Mutation_p.K241*|STAU2_uc010lzl.1_Nonsense_Mutation_p.K101*	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	staufen homolog 2 isoform e	273	DRBM 3.|Nuclear localization signal 1 (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding				0	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GGAAGTTTTTTAAGCTCCTGT	0.403												
RALYL	138046	broad.mit.edu	37	8	85441711	85441711	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:85441711C>T	uc003ycq.3	+	3	571	c.155C>T	c.(154-156)TCC>TTC	p.S52F	RALYL_uc003ycr.3_Missense_Mutation_p.S52F|RALYL_uc003ycs.3_Missense_Mutation_p.S52F|RALYL_uc010lzy.2_Missense_Mutation_p.S52F|RALYL_uc003yct.3_Missense_Mutation_p.S65F	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	52	RRM.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1						GTTGGATGTTCCGTTCACAAA	0.428												
CA3	761	broad.mit.edu	37	8	86354377	86354377	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:86354377A>G	uc003ydj.2	+	3	391	c.308A>G	c.(307-309)CAT>CGT	p.H103R	CA3_uc011lfv.1_Intron	NM_005181	NP_005172	P07451	CAH3_HUMAN	carbonic anhydrase III	103					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0						TCGGATGATCATGGCTCTGAG	0.502												
FAM92A1	137392	broad.mit.edu	37	8	94738661	94738661	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:94738661C>T	uc010maq.2	+	7	800	c.697C>T	c.(697-699)CGT>TGT	p.R233C	FAM92A1_uc003yfv.3_RNA|FAM92A1_uc003yfx.3_RNA|FAM92A1_uc003yfw.3_RNA|FAM92A1_uc010mar.2_Missense_Mutation_p.R40C	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	hypothetical protein LOC137392	233											0	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTATTCATCTCGTTTAGATAT	0.358												
CDH17	1015	broad.mit.edu	37	8	95164230	95164230	+	Silent	SNP	C	C	T	rs149027046	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:95164230C>T	uc003ygh.2	-	13	1787	c.1662G>A	c.(1660-1662)ACG>ACA	p.T554T	CDH17_uc011lgo.1_Silent_p.T340T|CDH17_uc011lgp.1_Silent_p.T554T	NM_004063	NP_004054	Q12864	CAD17_HUMAN	cadherin 17 precursor	554	Extracellular (Potential).|Cadherin 5.					integral to membrane	calcium ion binding			ovary(5)|skin(1)	6	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACAATAAGCGTGAACTTGG	0.423												
VPS13B	157680	broad.mit.edu	37	8	100286468	100286468	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:100286468T>C	uc003yiv.2	+	18	2669	c.2558T>C	c.(2557-2559)ATC>ACC	p.I853T	VPS13B_uc003yiw.2_Missense_Mutation_p.I853T|VPS13B_uc003yiu.1_Missense_Mutation_p.I853T|VPS13B_uc003yix.1_Missense_Mutation_p.I324T	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	853					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAGGGCTCAATCCAGAATGTT	0.388												
UBR5	51366	broad.mit.edu	37	8	103269926	103269926	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:103269926A>G	uc003ykr.1	-	58	8154	c.8121T>C	c.(8119-8121)CTT>CTC	p.L2707L	UBR5_uc003yks.1_Silent_p.L2706L|UBR5_uc003ykq.2_Silent_p.L218L	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	2707	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	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)			TGAACTGCAGAAGCTTCTCAG	0.313												
KCNV1	27012	broad.mit.edu	37	8	110984517	110984517	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:110984517G>A	uc003ynr.3	-	2	1303	c.961C>T	c.(961-963)CGC>TGC	p.R321C	KCNV1_uc010mcw.2_Missense_Mutation_p.R321C	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	321	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			lung(1)|kidney(1)	2	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTTAGCATGCGCAGAGCCCTG	0.507												
COL14A1	7373	broad.mit.edu	37	8	121222066	121222066	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:121222066G>A	uc003yox.2	+	12	1658	c.1393G>A	c.(1393-1395)GCA>ACA	p.A465T	COL14A1_uc003yoy.2_Missense_Mutation_p.A143T|COL14A1_uc010mde.1_Missense_Mutation_p.A143T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	465	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAAATGGGATGCAGTGCCTGG	0.473												
ATAD2	29028	broad.mit.edu	37	8	124381406	124381406	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:124381406T>C	uc003yqh.3	-	8	1049	c.941A>G	c.(940-942)CAC>CGC	p.H314R	ATAD2_uc011lii.1_Missense_Mutation_p.H105R|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.H314R	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTTCTCTGGTGACGAGGTTC	0.323												
FER1L6	654463	broad.mit.edu	37	8	125035715	125035715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:125035715G>A	uc003yqw.2	+	18	2371	c.2165G>A	c.(2164-2166)TGG>TAG	p.W722*	uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	722	Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTTTCATCTGGATGCTCAGC	0.537												
SQLE	6713	broad.mit.edu	37	8	126021272	126021272	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:126021272C>T	uc011liq.1	+	5	1808	c.882C>T	c.(880-882)AGC>AGT	p.S294S		NM_003129	NP_003120	Q14534	ERG1_HUMAN	squalene epoxidase	294					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			ovary(1)|breast(1)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TCAGGAAAAGCCTGGTCTCCA	0.368												
COL22A1	169044	broad.mit.edu	37	8	139606332	139606332	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:139606332C>T	uc003yvd.2	-	63	4990	c.4543G>A	c.(4543-4545)GGC>AGC	p.G1515S	COL22A1_uc011ljo.1_Missense_Mutation_p.G795S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1515	Pro-rich.|Gly-rich.|Collagen-like 15.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCATGGGGCCGGCCCGGCCT	0.652										HNSCC(7;0.00092)		
EIF2C2	27161	broad.mit.edu	37	8	141595331	141595331	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:141595331G>A	uc003yvn.2	-	2	142	c.102C>T	c.(100-102)TCC>TCT	p.S34S	EIF2C2_uc010men.2_Intron|EIF2C2_uc010meo.2_Silent_p.S34S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	34					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TTGTTCTCCCGGAGGTCCCAA	0.507												
SLC45A4	57210	broad.mit.edu	37	8	142222398	142222398	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:142222398C>T	uc003ywd.1	-	7	2354	c.2046G>A	c.(2044-2046)CCG>CCA	p.P682P	SLC45A4_uc003ywc.1_Silent_p.P682P|SLC45A4_uc010meq.1_Silent_p.P680P	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	733					transport	integral to membrane				ovary(2)	2	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCCGGCCAACGGGGAAGACA	0.637												
NAPRT1	93100	broad.mit.edu	37	8	144658969	144658969	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144658969G>A	uc003yym.3	-	6	753	c.728C>T	c.(727-729)GCG>GTG	p.A243V	NAPRT1_uc003yyn.3_Missense_Mutation_p.A243V|NAPRT1_uc011lkh.1_Missense_Mutation_p.A243V|NAPRT1_uc003yyo.3_Missense_Mutation_p.A243V	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	243					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGCTTTGGCCGCCAGGTCCAC	0.672												
TIGD5	84948	broad.mit.edu	37	8	144681106	144681106	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144681106C>T	uc003yyx.1	+	1	886	c.886C>T	c.(886-888)CGC>TGC	p.R296C	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	345					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACGCTACCTGCGCCGAAGCTG	0.697												
PYCRL	65263	broad.mit.edu	37	8	144688310	144688310	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144688310G>A	uc003yyy.2	-	5	610	c.600C>T	c.(598-600)TCC>TCT	p.S200S	PYCRL_uc011lkm.1_Silent_p.S180S|PYCRL_uc011lkn.1_RNA	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	188					proline biosynthetic process		pyrroline-5-carboxylate reductase activity				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CCAGGGCCTCGGAGAATGCAC	0.652												
ZNF707	286075	broad.mit.edu	37	8	144776083	144776083	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144776083C>T	uc003yze.3	+	7	814	c.499C>T	c.(499-501)CGG>TGG	p.R167W	ZNF707_uc010mfh.2_Missense_Mutation_p.R167W|ZNF707_uc010mfi.2_Missense_Mutation_p.R167W|ZNF707_uc003yzf.3_Missense_Mutation_p.R167W|ZNF707_uc003yzh.3_Missense_Mutation_p.R94W|ZNF707_uc011lkq.1_RNA	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	zinc finger protein 707	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGAGAGCGCCGGAAGCAGCG	0.682												
FAM83H	286077	broad.mit.edu	37	8	144808130	144808130	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144808130G>A	uc003yzk.2	-	5	3570	c.3501C>T	c.(3499-3501)TTC>TTT	p.F1167F	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1167					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTTGGGCACGAACTTGCCCA	0.647												
EPPK1	83481	broad.mit.edu	37	8	144943454	144943454	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144943454G>A	uc003zaa.1	-	1	3981	c.3968C>T	c.(3967-3969)GCG>GTG	p.A1323V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	1323	Plectin 23.					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)			CCCGGCCGCCGCCCTCTCGGC	0.662												
PLEC	5339	broad.mit.edu	37	8	144990675	144990675	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144990675A>G	uc003zaf.1	-	32	13895	c.13725T>C	c.(13723-13725)CCT>CCC	p.P4575P	PLEC_uc003zab.1_Silent_p.P4438P|PLEC_uc003zac.1_Silent_p.P4442P|PLEC_uc003zad.2_Silent_p.P4438P|PLEC_uc003zae.1_Silent_p.P4406P|PLEC_uc003zag.1_Silent_p.P4416P|PLEC_uc003zah.2_Silent_p.P4424P|PLEC_uc003zaj.2_Silent_p.P4465P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4575	Globular 2.|Plectin 33.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTTGGTCTTAGGGCAGGTGA	0.682												
PLEC	5339	broad.mit.edu	37	8	144999954	144999954	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144999954C>A	uc003zaf.1	-	31	4724	c.4554G>T	c.(4552-4554)CAG>CAT	p.Q1518H	PLEC_uc003zab.1_Missense_Mutation_p.Q1381H|PLEC_uc003zac.1_Missense_Mutation_p.Q1385H|PLEC_uc003zad.2_Missense_Mutation_p.Q1381H|PLEC_uc003zae.1_Missense_Mutation_p.Q1349H|PLEC_uc003zag.1_Missense_Mutation_p.Q1359H|PLEC_uc003zah.2_Missense_Mutation_p.Q1367H|PLEC_uc003zaj.2_Missense_Mutation_p.Q1408H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1518	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTGCCTTTGCCTGGGCGTGCG	0.736												
PARP10	84875	broad.mit.edu	37	8	145057175	145057175	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145057175G>A	uc003zal.3	-	9	2589	c.2481C>T	c.(2479-2481)ACC>ACT	p.T827T	PARP10_uc003zak.3_Silent_p.T524T|PARP10_uc011lku.1_Silent_p.T839T|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.T818T	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	827	PARP catalytic.|Myc binding.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAACTCCCCGGTGTTCTCTG	0.657												
SPATC1	375686	broad.mit.edu	37	8	145095767	145095767	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145095767C>A	uc011lkw.1	+	3	1167	c.1065C>A	c.(1063-1065)ACC>ACA	p.T355T	SPATC1_uc011lkx.1_Silent_p.T355T	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	355										ovary(1)|central_nervous_system(1)	2	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCACCACCCACATCGCCC	0.428												
NFKBIL2	4796	broad.mit.edu	37	8	145661488	145661488	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145661488G>A	uc011llg.1	-	17	2343	c.2328C>T	c.(2326-2328)CCC>CCT	p.P776P	uc011llh.1_Intron	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	776					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGTTGCTGGCGGGGCCAGGCG	0.726												
RECQL4	9401	broad.mit.edu	37	8	145737867	145737867	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145737867T>C	uc003zdj.2	-	18	2995	c.2963A>G	c.(2962-2964)GAC>GGC	p.D988G		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	988					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTTGACCATGTCAAACTCCAC	0.652			N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			
ZNF16	7564	broad.mit.edu	37	8	146156252	146156252	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:146156252G>A	uc003zet.2	-	4	2108	c.1921C>T	c.(1921-1923)CGT>TGT	p.R641C	ZNF16_uc003zeu.2_Missense_Mutation_p.R641C	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	641	C2H2-type 16.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGGACCGAACGCTGACTGAAG	0.537												
KANK1	23189	broad.mit.edu	37	9	740797	740797	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:740797T>C	uc003zgl.1	+	13	4208	c.3559T>C	c.(3559-3561)TGT>CGT	p.C1187R	KANK1_uc003zgn.1_Missense_Mutation_p.C1187R|KANK1_uc003zgs.1_Missense_Mutation_p.C1029R|KANK1_uc010mgx.1_Missense_Mutation_p.C165R|KANK1_uc010mgy.1_Missense_Mutation_p.C99R|KANK1_uc003zgt.1_Missense_Mutation_p.C99R	NM_015158	NP_055973	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1 isoform a	1187	ANK 1.				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)		TACAGATGTGTGTAATGTGGA	0.493												
VLDLR	7436	broad.mit.edu	37	9	2647580	2647580	+	Missense_Mutation	SNP	G	G	A	rs147695876		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:2647580G>A	uc003zhk.1	+	12	2207	c.1810G>A	c.(1810-1812)GGA>AGA	p.G604R	VLDLR_uc003zhl.1_Missense_Mutation_p.G604R|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.G563R	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	604	Extracellular (Potential).|LDL-receptor class B 4.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTGGCCTAACGGAATTACACT	0.438												
PTPRD	5789	broad.mit.edu	37	9	8485951	8485951	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:8485951G>T	uc003zkk.2	-	27	3577	c.2866C>A	c.(2866-2868)CTT>ATT	p.L956I	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.L947I|PTPRD_uc003zkm.2_Missense_Mutation_p.L943I|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	956	Fibronectin type-III 7.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTATAAAGAAGGGTATACTTG	0.473										TSP Lung(15;0.13)		
IFNA7	3444	broad.mit.edu	37	9	21201602	21201602	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:21201602T>C	uc003zop.1	-	1	603	c.563A>G	c.(562-564)AAG>AGG	p.K188R	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	interferon, alpha 7 precursor	188					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding				0				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTTTCAATCCTTCCTCCTTAA	0.383												
KLHL9	55958	broad.mit.edu	37	9	21333734	21333734	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:21333734C>T	uc003zoy.2	-	1	1696	c.1125G>A	c.(1123-1125)CGG>CGA	p.R375R	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	375	Kelch 2.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTTATTATACCGAGGATCAA	0.388												
TAF1L	138474	broad.mit.edu	37	9	32633790	32633790	+	Missense_Mutation	SNP	T	T	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:32633790T>A	uc003zrg.1	-	1	1878	c.1788A>T	c.(1786-1788)CAA>CAT	p.Q596H	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	596					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGACCCTGTTGCTTGGGGA	0.483												
APTX	54840	broad.mit.edu	37	9	32973609	32973609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:32973609G>A	uc003zrm.2	-	7	1113	c.916C>T	c.(916-918)CGA>TGA	p.R306*	APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Nonsense_Mutation_p.R218*|APTX_uc011lns.1_Nonsense_Mutation_p.R127*|APTX_uc003zrl.2_Nonsense_Mutation_p.R132*|APTX_uc003zrn.2_Nonsense_Mutation_p.R218*|APTX_uc003zro.2_Nonsense_Mutation_p.R306*|APTX_uc003zrp.2_Nonsense_Mutation_p.R218*|APTX_uc003zrq.2_Nonsense_Mutation_p.R218*|APTX_uc003zrr.2_Nonsense_Mutation_p.R252*|APTX_uc003zrs.2_Nonsense_Mutation_p.R306*|APTX_uc003zrt.2_Nonsense_Mutation_p.R218*|APTX_uc003zru.2_Nonsense_Mutation_p.R252*|APTX_uc003zrv.2_3'UTR|APTX_uc003zrw.2_Nonsense_Mutation_p.R234*|APTX_uc003zrx.2_3'UTR|APTX_uc003zry.2_Nonsense_Mutation_p.R306*|APTX_uc003zrz.2_Nonsense_Mutation_p.R127*	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	320					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		ATCCCATCTCGGACAGTTACT	0.502								Direct_reversal_of_damage|Editing_and_processing_nucleases				
KIAA1161	57462	broad.mit.edu	37	9	34370860	34370860	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:34370860C>A	uc003zue.3	-	3	2249	c.2082G>T	c.(2080-2082)CCG>CCT	p.P694P		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	694	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)		TGAGCAGCACCGGCGTCTTGT	0.642												
PIGO	84720	broad.mit.edu	37	9	35095104	35095104	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35095104G>A	uc003zwd.2	-	2	855	c.459C>T	c.(457-459)TTC>TTT	p.F153F	PIGO_uc003zwc.1_Silent_p.F153F|PIGO_uc003zwe.2_Silent_p.F153F|PIGO_uc003zwf.2_Silent_p.F153F|PIGO_uc003zwg.1_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	153					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			large_intestine(1)|ovary(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGTGGCTGGCGAAGTTACTAC	0.527												
RUSC2	9853	broad.mit.edu	37	9	35547693	35547693	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35547693C>T	uc003zww.2	+	2	1430	c.1175C>T	c.(1174-1176)GCC>GTC	p.A392V	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A392V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	392						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTTGTTGTGGCCACACAAAAT	0.547												
TESK1	7016	broad.mit.edu	37	9	35607360	35607360	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35607360G>A	uc003zxa.2	+	5	910	c.574G>A	c.(574-576)GCT>ACT	p.A192T	TESK1_uc003zwz.1_Intron|TESK1_uc010mks.2_Intron	NM_006285	NP_006276	Q15569	TESK1_HUMAN	testis-specific protein kinase 1	192	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCTTCACCGCTGTCGTGGG	0.542												
TLN1	7094	broad.mit.edu	37	9	35706052	35706052	+	Silent	SNP	G	G	A	rs141032582	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35706052G>A	uc003zxt.2	-	41	5772	c.5418C>T	c.(5416-5418)GCC>GCT	p.A1806A		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1806	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCCTCTACGGCCTCGGTCA	0.602												
CREB3	10488	broad.mit.edu	37	9	35736104	35736104	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:35736104C>T	uc003zxv.2	+	7	1124	c.671C>T	c.(670-672)ACC>ATC	p.T224I	CREB3_uc010mla.2_Missense_Mutation_p.T143I	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	248	Cytoplasmic (Potential).				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		TCAAACAAAACCAGCAGCAGC	0.517											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SHB	6461	broad.mit.edu	37	9	38068427	38068427	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:38068427G>A	uc004aax.2	-	1	784	c.216C>T	c.(214-216)GAC>GAT	p.D72D		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	72	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGCCGCTGTCGTCGGGCAGCG	0.726												
ALDH1B1	219	broad.mit.edu	37	9	38395768	38395768	+	Missense_Mutation	SNP	G	G	A	rs61757680		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:38395768G>A	uc004aay.2	+	2	135	c.23G>A	c.(22-24)CGG>CAG	p.R8Q		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	8					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CTGGCACCCCGGCTGCTTAGC	0.627												
ALDH1B1	219	broad.mit.edu	37	9	38396542	38396542	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:38396542T>C	uc004aay.2	+	2	909	c.797T>C	c.(796-798)GTG>GCG	p.V266A		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	266	NAD (By similarity).				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TCCACCGAGGTGGGCCACCTG	0.607												
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						ACAGAATGGCATCTTGTCGAC	0.478												
TRPM3	80036	broad.mit.edu	37	9	73152123	73152123	+	Silent	SNP	C	C	T	rs147000092		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:73152123C>T	uc004aid.2	-	25	4114	c.3870G>A	c.(3868-3870)ACG>ACA	p.T1290T	TRPM3_uc004ahu.2_Silent_p.T1132T|TRPM3_uc004ahv.2_Silent_p.T1092T|TRPM3_uc004ahw.2_Silent_p.T1162T|TRPM3_uc004ahx.2_Silent_p.T1149T|TRPM3_uc004ahy.2_Silent_p.T1152T|TRPM3_uc004ahz.2_Silent_p.T1139T|TRPM3_uc004aia.2_Silent_p.T1137T|TRPM3_uc004aib.2_Silent_p.T1127T|TRPM3_uc004aic.2_Silent_p.T1290T	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1315	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AGGCGGCGTCCGTGCAGTCTG	0.597												
TRPM3	80036	broad.mit.edu	37	9	73233869	73233869	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:73233869C>T	uc004aid.2	-	16	2480	c.2236G>A	c.(2236-2238)GAC>AAC	p.D746N	TRPM3_uc004ahu.2_Missense_Mutation_p.D576N|TRPM3_uc004ahv.2_Missense_Mutation_p.D548N|TRPM3_uc004ahw.2_Missense_Mutation_p.D618N|TRPM3_uc004ahx.2_Missense_Mutation_p.D605N|TRPM3_uc004ahy.2_Missense_Mutation_p.D608N|TRPM3_uc004ahz.2_Missense_Mutation_p.D595N|TRPM3_uc004aia.2_Missense_Mutation_p.D593N|TRPM3_uc004aib.2_Missense_Mutation_p.D583N|TRPM3_uc004aic.2_Missense_Mutation_p.D746N	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	771	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						GCGATGAAGTCGCGGTGTTTG	0.612												
NTRK2	4915	broad.mit.edu	37	9	87482168	87482168	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:87482168C>T	uc004aoa.1	+	15	2345	c.1407C>T	c.(1405-1407)TCC>TCT	p.S469S	NTRK2_uc004any.1_Silent_p.S469S|NTRK2_uc004anz.1_Silent_p.S485S|NTRK2_uc011lsz.1_Silent_p.S485S|NTRK2_uc011lta.1_Silent_p.S469S|NTRK2_uc004aoc.2_Silent_p.S20S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	469	Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						GCCCAGCCTCCGTTATCAGCA	0.343										TSP Lung(25;0.17)		
ZCCHC6	79670	broad.mit.edu	37	9	88937944	88937944	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:88937944G>A	uc004aoq.2	-	13	2936	c.2721C>T	c.(2719-2721)GAC>GAT	p.D907D	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Silent_p.D784D|ZCCHC6_uc004aou.2_Silent_p.D907D	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	907	Glu-rich.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2						ATTCTTTCACGTCTTCATACT	0.403												
DAPK1	1612	broad.mit.edu	37	9	90263711	90263711	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:90263711C>A	uc004apc.2	+	15	1483	c.1345C>A	c.(1345-1347)CTC>ATC	p.L449I	DAPK1_uc004ape.2_Missense_Mutation_p.L449I|DAPK1_uc004apd.2_Missense_Mutation_p.L449I|DAPK1_uc011ltg.1_Missense_Mutation_p.L449I|DAPK1_uc011lth.1_Missense_Mutation_p.L186I|DAPK1_uc004apf.1_Missense_Mutation_p.L3I	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	449	ANK 3.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						AGAGATGGCCCTCCACGTGGC	0.567									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
S1PR3	1903	broad.mit.edu	37	9	91617033	91617033	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:91617033G>A	uc004aqe.2	+	2	1314	c.918G>A	c.(916-918)CGG>CGA	p.R306R		NM_005226	NP_005217	Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	306	Cytoplasmic (By similarity).				anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)|central_nervous_system(1)|skin(1)	5						AGGAGATGCGGCGGGCCTTCT	0.622												
NOL8	55035	broad.mit.edu	37	9	95077300	95077300	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:95077300C>T	uc004arv.2	-	7	1944	c.1607G>A	c.(1606-1608)CGA>CAA	p.R536Q	NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.R468Q	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	nucleolar protein 8	536					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1						AATACACTGTCGGCCTCTGCG	0.493												
FAM120A	23196	broad.mit.edu	37	9	96261128	96261128	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:96261128G>A	uc004atw.2	+	5	1015	c.990G>A	c.(988-990)GCG>GCA	p.A330A	FAM120A_uc004atv.2_Silent_p.A330A|FAM120A_uc004atx.2_Silent_p.A112A|FAM120A_uc004aty.2_Silent_p.A112A	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	oxidative stress-associated Src activator	330						cytoplasm|plasma membrane	RNA binding				0						ATTATTCAGCGACTAGTAAGC	0.338												
C9orf102	375748	broad.mit.edu	37	9	98678534	98678534	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:98678534G>T	uc004avt.3	+	6	1397	c.1009G>T	c.(1009-1011)GGG>TGG	p.G337W	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.G39W|C9orf102_uc010mry.1_Missense_Mutation_p.G39W|C9orf102_uc010mrz.2_Missense_Mutation_p.G148W	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	337					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)				TTTAGGGAGTGGGACCTACTT	0.423												
ANKS6	203286	broad.mit.edu	37	9	101530424	101530424	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:101530424G>A	uc004ayu.2	-	11	2102	c.2081C>T	c.(2080-2082)CCG>CTG	p.P694L	ANKS6_uc004ayt.2_Missense_Mutation_p.P393L|ANKS6_uc004ayv.1_Missense_Mutation_p.P156L|ANKS6_uc004ayw.1_Missense_Mutation_p.P276L|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain	694	Ser-rich.									ovary(2)	2		Acute lymphoblastic leukemia(62;0.0527)				GCTGGACCCCGGTGCTGGCCC	0.582												
TMEFF1	8577	broad.mit.edu	37	9	103271406	103271406	+	Silent	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:103271406A>G	uc004baz.1	+	3	536	c.426A>G	c.(424-426)CCA>CCG	p.P142P	TMEFF1_uc004bay.1_Silent_p.P216P	NM_003692	NP_003683	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two	142	Kazal-like 1.|Extracellular (Potential).				multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)				CAAGAGGACCATGCTACTCTG	0.378												
LPPR1	54886	broad.mit.edu	37	9	104075105	104075105	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:104075105C>T	uc004bbb.2	+	6	1061	c.662C>T	c.(661-663)ACG>ATG	p.T221M	LPPR1_uc011lvi.1_Missense_Mutation_p.T197M|LPPR1_uc004bbc.2_Missense_Mutation_p.T221M|LPPR1_uc010mtc.2_Missense_Mutation_p.T205M	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	plasticity related gene 3	221						integral to membrane	catalytic activity				0						ACAATCAAGACGAAGAGCAGT	0.547												
EPB41L4B	54566	broad.mit.edu	37	9	112042122	112042122	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:112042122T>C	uc004bdz.1	-	2	681	c.386A>G	c.(385-387)CAG>CGG	p.Q129R	EPB41L4B_uc004bea.2_Missense_Mutation_p.Q129R	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	129	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						GTCGAGGAACTGGAGGCCAAA	0.438												
MUSK	4593	broad.mit.edu	37	9	113538217	113538217	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:113538217C>T	uc004bey.2	+	9	1432	c.1334C>T	c.(1333-1335)ACG>ATG	p.T445M	MUSK_uc004bez.1_Missense_Mutation_p.T33M	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	445	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						TGGGACCCCACGGCCTGTGCC	0.478												
SNX30	401548	broad.mit.edu	37	9	115598612	115598612	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:115598612G>A	uc004bgj.3	+	5	885	c.737G>A	c.(736-738)GGT>GAT	p.G246D	SNX30_uc004bgi.3_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	246					cell communication|protein transport	cytoplasm	phosphatidylinositol binding				0						GCTGCCATAGGTGACTACTTA	0.502												
BSPRY	54836	broad.mit.edu	37	9	116124670	116124670	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:116124670G>A	uc004bhg.3	+	4	601	c.553G>A	c.(553-555)GAG>AAG	p.E185K	BSPRY_uc010muw.2_Missense_Mutation_p.E185K	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	185					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)	1						AGAGATTTTCGAGAGGTGAGT	0.483												
RGS3	5998	broad.mit.edu	37	9	116267792	116267792	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:116267792C>T	uc004bhq.2	+	12	1177	c.968C>T	c.(967-969)GCC>GTC	p.A323V	RGS3_uc004bhr.2_Missense_Mutation_p.A211V|RGS3_uc004bhs.2_Missense_Mutation_p.A213V|RGS3_uc004bht.2_Missense_Mutation_p.A42V|RGS3_uc010muy.2_Missense_Mutation_p.A42V|RGS3_uc004bhu.2_5'UTR	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	323	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3						CGAGTCCAGGCCGTGGATTCC	0.577												
MEGF9	1955	broad.mit.edu	37	9	123367553	123367553	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:123367553G>A	uc004bkj.1	-	8	1835	c.1835C>T	c.(1834-1836)TCG>TTG	p.S612L	MEGF9_uc011lyb.1_Missense_Mutation_p.S567L	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	575	Cytoplasmic (Potential).					integral to membrane	calcium ion binding				0						CAACAATCCCGAAACATCTGC	0.478												
RAB14	51552	broad.mit.edu	37	9	123943720	123943720	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:123943720C>T	uc004blc.2	-	8	1058	c.602G>A	c.(601-603)CGG>CAG	p.R201Q		NM_016322	NP_057406	P61106	RAB14_HUMAN	GTPase Rab14	201					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity				0						ACTGGTTAGCCGGCCTCCCTG	0.532												
NDUFA8	4702	broad.mit.edu	37	9	124914576	124914576	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:124914576G>A	uc004blv.2	-	2	305	c.163C>T	c.(163-165)CGG>TGG	p.R55W		NM_014222	NP_055037	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	55	CHCH 1.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)	1					NADH(DB00157)	TCTAAACACCGCCTCGGATCT	0.458												
RC3H2	54542	broad.mit.edu	37	9	125627678	125627678	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:125627678G>A	uc010mwc.1	-	10	1825	c.1584C>T	c.(1582-1584)GGC>GGT	p.G528G	RC3H2_uc004bnc.2_RNA|RC3H2_uc004bnd.1_Silent_p.G528G|RC3H2_uc004bne.3_Silent_p.G528G	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type zinc finger domains 2	528						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			ovary(2)|lung(2)	4						GACCATTAGCGCCAACCTTTC	0.408												
FAM125B	89853	broad.mit.edu	37	9	129184191	129184191	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:129184191T>C	uc004bqh.1	+	7	802	c.721T>C	c.(721-723)TAC>CAC	p.Y241H	FAM125B_uc011lzy.1_Missense_Mutation_p.Y226H|FAM125B_uc010mxd.2_Missense_Mutation_p.Y234H	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	241					protein transport	late endosome membrane					0						CCGGACGGACTACGAGTACCA	0.567												
LMX1B	4010	broad.mit.edu	37	9	129458222	129458222	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:129458222G>A	uc004bqj.2	+	7	972	c.922G>A	c.(922-924)GAC>AAC	p.D308N	LMX1B_uc004bqi.2_Missense_Mutation_p.D308N|LMX1B_uc011maa.1_Missense_Mutation_p.D319N	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	308					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CGGCAGCAGCGACCCCTTCCA	0.677									Nail-Patella_Syndrome			
GARNL3	84253	broad.mit.edu	37	9	130149474	130149474	+	Silent	SNP	G	G	A	rs149694236	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:130149474G>A	uc011mae.1	+	25	2792	c.2391G>A	c.(2389-2391)TCG>TCA	p.S797S	GARNL3_uc011mad.1_Silent_p.S775S|GARNL3_uc010mxi.2_Silent_p.S27S	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	797	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CTTTCTAGTCGGATATATACT	0.577												
LCN2	3934	broad.mit.edu	37	9	130911884	130911884	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:130911884T>C	uc004bto.1	+	1	153	c.80T>C	c.(79-81)CTG>CCG	p.L27P	LCN2_uc010mxq.1_Missense_Mutation_p.L27P|LCN2_uc011map.1_Missense_Mutation_p.L27P	NM_005564	NP_005555	P80188	NGAL_HUMAN	lipocalin 2 precursor	27					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity				0						ACCTCAGACCTGATCCCAGCC	0.637												
SPTAN1	6709	broad.mit.edu	37	9	131355282	131355282	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131355282C>T	uc004bvl.3	+	23	3289	c.3176C>T	c.(3175-3177)GCC>GTC	p.A1059V	SPTAN1_uc011mbg.1_Intron|SPTAN1_uc011mbh.1_Missense_Mutation_p.A1071V|SPTAN1_uc004bvm.3_Missense_Mutation_p.A1059V|SPTAN1_uc004bvn.3_Intron	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1059					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ACTAAGGAGGCCGGCAGTGTA	0.532												
PKN3	29941	broad.mit.edu	37	9	131475388	131475388	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131475388G>A	uc004bvw.2	+	7	1286	c.893G>A	c.(892-894)CGC>CAC	p.R298H	PKN3_uc010myh.2_Missense_Mutation_p.R298H|PKN3_uc011mbk.1_5'UTR	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	protein kinase PKNbeta	298					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			stomach(2)|lung(2)	4						GTGCCTGGGCGCTCCCCAGCG	0.682												
ZER1	10444	broad.mit.edu	37	9	131515484	131515484	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131515484G>A	uc004bwa.1	-	4	1138	c.705C>T	c.(703-705)TCC>TCT	p.S235S		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	235	LRR 1.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						TGTGGTCGTCGGACAGGTCCA	0.632												
LAMC3	10319	broad.mit.edu	37	9	133945082	133945082	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:133945082G>A	uc004caa.1	+	17	3012	c.2914G>A	c.(2914-2916)GCT>ACT	p.A972T		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	972	Laminin EGF-like 11.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCACTGGGCGCTGCCTCGGC	0.667												
BAT2L1	84726	broad.mit.edu	37	9	134351152	134351152	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:134351152C>T	uc004can.3	+	15	3691	c.3636C>T	c.(3634-3636)TGC>TGT	p.C1212C	BAT2L1_uc010mzj.1_Silent_p.C795C|BAT2L1_uc004cao.3_Silent_p.C570C	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1212							protein binding				0						TGAGCAATTGCGGGTATGGAC	0.617												
NTNG2	84628	broad.mit.edu	37	9	135102326	135102326	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:135102326C>T	uc004cbh.2	+	4	1724	c.948C>T	c.(946-948)TGC>TGT	p.C316C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	316	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCCGACTGCGGCAAGTGCA	0.677												
NTNG2	84628	broad.mit.edu	37	9	135102359	135102359	+	Silent	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:135102359C>A	uc004cbh.2	+	4	1757	c.981C>A	c.(979-981)TCC>TCA	p.S327S		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	327	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACCCGGTCCTGGCGGGCCG	0.667												
NTNG2	84628	broad.mit.edu	37	9	135116378	135116378	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:135116378G>T	uc004cbh.2	+	7	2080	c.1304G>T	c.(1303-1305)GGC>GTC	p.G435V		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	netrin G2 precursor	435	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCGCGGCGGGCCCCAAGTGC	0.687												
ADAMTS13	11093	broad.mit.edu	37	9	136308546	136308546	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:136308546C>A	uc004cdv.3	+	19	2728	c.2284C>A	c.(2284-2286)CTG>ATG	p.L762M	ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.L762M|ADAMTS13_uc004cdu.1_Missense_Mutation_p.L731M|ADAMTS13_uc004cdw.3_Missense_Mutation_p.L762M|ADAMTS13_uc004cdx.3_Missense_Mutation_p.L731M|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Missense_Mutation_p.L432M|ADAMTS13_uc004cds.1_Missense_Mutation_p.L287M|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	762	TSP type-1 3.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGGGGCGGCCTGCGGGAGCG	0.726												
COL5A1	1289	broad.mit.edu	37	9	137696842	137696842	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:137696842C>A	uc004cfe.2	+	40	3518	c.3136C>A	c.(3136-3138)CTC>ATC	p.L1046I		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	1046	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)		CCCTGCAGGCCTCCCTGGGAA	0.617												
CARD9	64170	broad.mit.edu	37	9	139265589	139265589	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139265589C>T	uc004chg.3	-	4	497	c.331G>A	c.(331-333)GGG>AGG	p.G111R	CARD9_uc011mdw.1_Missense_Mutation_p.G111R|CARD9_uc011mdx.1_Missense_Mutation_p.G7R|CARD9_uc010nbj.2_Missense_Mutation_p.G111R	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	111					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CCTGACTCCCCGGACGCGTCT	0.627												
SNAPC4	6621	broad.mit.edu	37	9	139273210	139273210	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139273210G>A	uc004chh.2	-	21	3078	c.3069C>T	c.(3067-3069)CTC>CTT	p.L1023L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	1023	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GAGACTGTCCGAGACCACTCT	0.711												
INPP5E	56623	broad.mit.edu	37	9	139326317	139326317	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139326317G>A	uc004cho.2	-	7	1893	c.1508C>T	c.(1507-1509)GCG>GTG	p.A503V	INPP5E_uc010nbm.2_Missense_Mutation_p.A502V	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	503						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CTGCAGCAGCGCCGGCACGTC	0.562												
SEC16A	9919	broad.mit.edu	37	9	139342121	139342121	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139342121C>T	uc004chx.2	-	26	6768	c.6459G>A	c.(6457-6459)CCG>CCA	p.P2153P	SEC16A_uc004chp.2_5'Flank|SEC16A_uc004chq.2_5'UTR|SEC16A_uc011mea.1_5'UTR|SEC16A_uc004chr.2_Silent_p.P159P|SEC16A_uc004chs.2_5'UTR|SEC16A_uc004cht.2_Silent_p.P184P|SEC16A_uc004chu.2_Silent_p.P338P|SEC16A_uc004chv.3_Silent_p.P1543P|SEC16A_uc004chw.2_Silent_p.P2153P|SEC16A_uc010nbn.2_Silent_p.P2153P	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	1975	Required for interaction with SEC23A.|Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGGTGGGGGCGGGGCTTTCT	0.607												
LCN6	158062	broad.mit.edu	37	9	139639702	139639702	+	Missense_Mutation	SNP	G	G	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139639702G>C	uc004ciy.2	-	4	377	c.332C>G	c.(331-333)GCC>GGC	p.A111G	LCN10_uc004civ.2_5'Flank|LCN10_uc011med.1_5'Flank|LCN10_uc010nbq.2_5'Flank|LCN10_uc011mee.1_5'Flank|LCN10_uc011mef.1_5'Flank|LCN10_uc004ciw.2_RNA|uc004ciz.1_5'Flank	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	111					single fertilization	extracellular region	binding				0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GAAGTTGGTGGCCAGCACCCA	0.597												
ABCA2	20	broad.mit.edu	37	9	139909513	139909513	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:139909513G>A	uc011mem.1	-	24	3879	c.3731C>T	c.(3730-3732)CCG>CTG	p.P1244L	ABCA2_uc011mel.1_Missense_Mutation_p.P1245L|ABCA2_uc004ckl.1_Missense_Mutation_p.P1175L|ABCA2_uc004ckm.1_Missense_Mutation_p.P1275L|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1244					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCTGCTCAGCGGGGCCCGACC	0.657												
GRIN1	2902	broad.mit.edu	37	9	140051349	140051349	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140051349C>T	uc004clk.2	+	6	1158	c.828C>T	c.(826-828)AAC>AAT	p.N276N	GRIN1_uc004cli.1_Translation_Start_Site|GRIN1_uc004clj.1_Silent_p.N273N|GRIN1_uc004cll.2_Silent_p.N276N|GRIN1_uc004clm.2_Silent_p.N276N|GRIN1_uc004cln.2_Silent_p.N294N|GRIN1_uc004clo.2_Silent_p.N294N	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	276	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGGCAAGAACGAGTCGGCCC	0.701												
TMEM203	94107	broad.mit.edu	37	9	140099695	140099695	+	Missense_Mutation	SNP	C	C	T	rs11545809		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140099695C>T	uc004clv.2	-	1	396	c.172G>A	c.(172-174)GGG>AGG	p.G58R	NDOR1_uc004clx.2_5'Flank|NDOR1_uc004clw.2_5'Flank|NDOR1_uc011mes.1_5'Flank|NDOR1_uc004cly.2_5'Flank	NM_053045	NP_444273	Q969S6	TM203_HUMAN	transmembrane protein 203	58	Helical; (Potential).					integral to membrane					0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTGCTGAGCCCGTCAGCGGCG	0.627												
C9orf173	441476	broad.mit.edu	37	9	140147690	140147690	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140147690C>T	uc004cmk.1	+	6	945	c.933C>T	c.(931-933)CAC>CAT	p.H311H	C9orf173_uc004cmj.1_Missense_Mutation_p.T307M|C9orf173_uc011meu.1_RNA|C9orf173_uc010ncd.1_RNA|C9orf173_uc011mev.1_Missense_Mutation_p.T251M|C9orf173_uc004cml.1_Silent_p.H256H|COBRA1_uc004cmm.3_5'Flank			Q8N7X2	CI173_HUMAN	SubName: Full=LOC441476 protein;	315										pancreas(1)	1						CCCTTCTGCACGCTCTAGAGC	0.677												
C9orf167	54863	broad.mit.edu	37	9	140174021	140174021	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140174021G>A	uc004cmn.2	+	2	997	c.880G>A	c.(880-882)GCC>ACC	p.A294T	C9orf167_uc011mew.1_5'Flank	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	hypothetical protein LOC54863	294					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity			pancreas(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)		CTTCCACAACGCCATCTACGT	0.711												
ENTPD8	377841	broad.mit.edu	37	9	140329730	140329730	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140329730A>G	uc004cmw.2	-	9	1406	c.1222T>C	c.(1222-1224)TAC>CAC	p.Y408H	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Missense_Mutation_p.Y371H	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	408	Extracellular (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTGAGGATGTACAGGCCTGAG	0.687												
ASMTL	8623	broad.mit.edu	37	X	1540581	1540581	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:1540581C>T	uc004cpx.1	-	9	1326	c.1215G>A	c.(1213-1215)GCG>GCA	p.A405A	ASMTL_uc011mhe.1_Silent_p.A329A|ASMTL_uc004cpy.1_Silent_p.A389A|ASMTL_uc011mhf.1_Silent_p.A347A	NM_004192	NP_004183	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	405	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCTTCCCCAACGCCCTGTGGT	0.507												
ZBED1	9189	broad.mit.edu	37	X	2408016	2408016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:2408016G>A	uc004cqg.2	-	2	946	c.745C>T	c.(745-747)CGA>TGA	p.R249*	DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Nonsense_Mutation_p.R249*	NM_004729	NP_004720	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	249						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGAGCACTCGCGTGATGGTC	0.632												
ARSE	415	broad.mit.edu	37	X	2856188	2856188	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:2856188C>T	uc004crc.3	-	9	1487	c.1237G>A	c.(1237-1239)GAC>AAC	p.D413N	ARSE_uc011mhi.1_Missense_Mutation_p.D359N|ARSE_uc011mhh.1_Missense_Mutation_p.D438N	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	413					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGAACACGTCCATCAGACTC	0.647												
ARHGAP6	395	broad.mit.edu	37	X	11682375	11682375	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:11682375C>T	uc004cup.1	-	1	1447	c.574G>A	c.(574-576)GTG>ATG	p.V192M	ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.V192M	NM_013427	NP_038286	O43182	RHG06_HUMAN	Rho GTPase activating protein 6 isoform 1	192					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			urinary_tract(1)|lung(1)	2						GATTTCCACACGACGTAGGGG	0.617												
CDKL5	6792	broad.mit.edu	37	X	18646647	18646647	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:18646647G>A	uc004cym.2	+	18	2906	c.2653G>A	c.(2653-2655)GGG>AGG	p.G885R	CDKL5_uc004cyn.2_Missense_Mutation_p.G885R	NM_003159	NP_003150	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	885					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1)	6	Hepatocellular(33;0.183)					GGCCTCTGGCGGGAGCAGCAA	0.597												
DMD	1756	broad.mit.edu	37	X	32360294	32360294	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:32360294G>T	uc004dda.1	-	41	6089	c.5845C>A	c.(5845-5847)CAG>AAG	p.Q1949K	DMD_uc004dcw.2_Missense_Mutation_p.Q605K|DMD_uc004dcx.2_Missense_Mutation_p.Q608K|DMD_uc004dcz.2_Missense_Mutation_p.Q1826K|DMD_uc004dcy.1_Missense_Mutation_p.Q1945K|DMD_uc004ddb.1_Missense_Mutation_p.Q1941K|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1949	Spectrin 13.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCTGGATCTGAGTTGGCTCC	0.507												
FAM47C	442444	broad.mit.edu	37	X	37028708	37028708	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:37028708C>A	uc004ddl.1	+	1	2239	c.2225C>A	c.(2224-2226)CCT>CAT	p.P742H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	742										ovary(3)	3						CGCCCAGAGCCTCCCAAGCCT	0.632												
BCOR	54880	broad.mit.edu	37	X	39914621	39914621	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:39914621C>A	uc004den.3	-	12	5033	c.4741G>T	c.(4741-4743)GAT>TAT	p.D1581Y	BCOR_uc004dep.3_Missense_Mutation_p.D1547Y|BCOR_uc004deo.3_Missense_Mutation_p.D1529Y|BCOR_uc010nhb.2_Missense_Mutation_p.D289Y|BCOR_uc004dem.3_Missense_Mutation_p.D1547Y	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	BCL-6 interacting corepressor isoform c	1581					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4						TTTGTCATACCTGTTAAGAAC	0.378												
USP9X	8239	broad.mit.edu	37	X	41045867	41045867	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:41045867T>C	uc004dfb.2	+	24	4289	c.3656T>C	c.(3655-3657)GTT>GCT	p.V1219A	USP9X_uc004dfc.2_Missense_Mutation_p.V1219A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	1219					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						AATGTGTCAGTTCGTCTTGCT	0.413												
USP9X	8239	broad.mit.edu	37	X	41082472	41082472	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:41082472G>A	uc004dfb.2	+	39	7201	c.6568G>A	c.(6568-6570)GTG>ATG	p.V2190M	USP9X_uc004dfc.2_Missense_Mutation_p.V2190M	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2190					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						TGTTGTAGGTGTGGCAGAGAA	0.398												
KDM6A	7403	broad.mit.edu	37	X	44966693	44966693	+	Missense_Mutation	SNP	T	T	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:44966693T>C	uc004dge.3	+	27	4292	c.3917T>C	c.(3916-3918)TTG>TCG	p.L1306S	KDM6A_uc011mkz.1_Missense_Mutation_p.L1358S|KDM6A_uc011mla.1_Missense_Mutation_p.L1261S|KDM6A_uc011mlb.1_Missense_Mutation_p.L1313S|KDM6A_uc011mlc.1_Missense_Mutation_p.L1010S|KDM6A_uc011mld.1_Missense_Mutation_p.L945S	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	1306					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TGTCAGACATTGAGGGAAGCT	0.373			D|N|F|S		renal|oesophageal SCC|MM							
CHST7	56548	broad.mit.edu	37	X	46434069	46434069	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:46434069C>T	uc004dgt.2	+	1	878	c.703C>T	c.(703-705)CGC>TGC	p.R235C		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	235	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						CGTGGCGATACGCGCCCTGGA	0.711												
CHST7	56548	broad.mit.edu	37	X	46434730	46434730	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:46434730G>A	uc004dgt.2	+	1	1539	c.1364G>A	c.(1363-1365)CGT>CAT	p.R455H		NM_019886	NP_063939	Q9NS84	CHST7_HUMAN	chondroitin 6-sulfotransferase 7	455	Lumenal (Potential).				chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)	3						CCAGCCATGCGTCTGCTCGCC	0.741												
SSX3	10214	broad.mit.edu	37	X	48209552	48209552	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:48209552C>T	uc004djd.1	-	6	430	c.336G>A	c.(334-336)ATG>ATA	p.M112I	SSX3_uc004dje.2_Missense_Mutation_p.M112I	NM_021014	NP_066294	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3 isoform a	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						GCTTCTTGGGCATGATCTTTA	0.333												
WDR13	64743	broad.mit.edu	37	X	48458100	48458100	+	Missense_Mutation	SNP	A	A	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:48458100A>C	uc004dkh.1	+	5	665	c.518A>C	c.(517-519)GAG>GCG	p.E173A	WDR13_uc010nif.1_Missense_Mutation_p.E51A|WDR13_uc004dki.1_Missense_Mutation_p.E81A|WDR13_uc004dkj.1_Missense_Mutation_p.E173A|WDR13_uc004dkk.1_Missense_Mutation_p.E81A|WDR13_uc004dkl.3_Missense_Mutation_p.E81A|WDR13_uc011mme.1_Missense_Mutation_p.E51A	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	173	WD 1.					cytoplasm|nucleus				ovary(2)	2						CACGTGGATGAGGCAGGTGAG	0.567												
HDAC6	10013	broad.mit.edu	37	X	48681771	48681771	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:48681771G>A	uc011mmi.1	+	25	3057	c.2962G>A	c.(2962-2964)GCT>ACT	p.A988T	HDAC6_uc004dks.1_Missense_Mutation_p.A988T|HDAC6_uc010nig.1_Missense_Mutation_p.A836T|HDAC6_uc004dkt.1_Missense_Mutation_p.A988T|HDAC6_uc011mmk.1_Missense_Mutation_p.A969T|HDAC6_uc004dkv.1_Missense_Mutation_p.A636T|HDAC6_uc004dkw.1_Missense_Mutation_p.A636T|HDAC6_uc004dkx.1_Missense_Mutation_p.A351T	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	988					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4					Vorinostat(DB02546)	TGTAGGAGGAGCTACACTGGC	0.632												
CCNB3	85417	broad.mit.edu	37	X	50054470	50054470	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:50054470C>A	uc004dox.3	+	6	3599	c.3301C>A	c.(3301-3303)CCA>ACA	p.P1101T	CCNB3_uc004doy.2_Missense_Mutation_p.P1101T|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	1101					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)					ACCTGTCTCACCACAGGCCAA	0.473												
SLC7A3	84889	broad.mit.edu	37	X	70149524	70149524	+	Silent	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:70149524G>T	uc004dyn.2	-	2	482	c.324C>A	c.(322-324)CTC>CTA	p.L108L	SLC7A3_uc004dyo.2_Silent_p.L108L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid	108	Helical; Name=3; (Potential).				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				ovary(1)|kidney(1)	2	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAAGGCCCAGAGTTCACCCA	0.557												
MED12	9968	broad.mit.edu	37	X	70356270	70356270	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:70356270G>A	uc004dyy.2	+	37	5364	c.5165G>A	c.(5164-5166)CGG>CAG	p.R1722Q	MED12_uc011mpq.1_Missense_Mutation_p.R1722Q|MED12_uc004dyz.2_Missense_Mutation_p.R1722Q|MED12_uc004dza.2_Missense_Mutation_p.R1569Q|MED12_uc010nla.2_Missense_Mutation_p.R348Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1722	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					GAGCAGCAGCGGTTGCTGCTC	0.632												
ATP7A	538	broad.mit.edu	37	X	77301978	77301978	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:77301978C>T	uc004ecx.3	+	23	4574	c.4414C>T	c.(4414-4416)CGC>TGC	p.R1472C		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1472	Cytoplasmic (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						GTCTGATAAACGCTCCCTAAA	0.438												
BRWD3	254065	broad.mit.edu	37	X	79965051	79965051	+	Missense_Mutation	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:79965051C>T	uc004edt.2	-	21	2614	c.2351G>A	c.(2350-2352)CGT>CAT	p.R784H	BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.R380H|BRWD3_uc004edp.2_Missense_Mutation_p.R613H|BRWD3_uc004edq.2_Missense_Mutation_p.R380H|BRWD3_uc010nmj.1_Missense_Mutation_p.R380H|BRWD3_uc004edr.2_Missense_Mutation_p.R454H|BRWD3_uc004eds.2_Missense_Mutation_p.R380H|BRWD3_uc004edu.2_Missense_Mutation_p.R454H|BRWD3_uc004edv.2_Missense_Mutation_p.R380H|BRWD3_uc004edw.2_Missense_Mutation_p.R380H|BRWD3_uc004edx.2_Missense_Mutation_p.R380H|BRWD3_uc004edy.2_Missense_Mutation_p.R380H|BRWD3_uc004edz.2_Missense_Mutation_p.R454H|BRWD3_uc004eea.2_Missense_Mutation_p.R454H|BRWD3_uc004eeb.2_Missense_Mutation_p.R380H	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	784										ovary(4)	4						GCGTAAAGAACGCCCACAGCT	0.378												
HNRNPH2	3188	broad.mit.edu	37	X	100667062	100667062	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:100667062G>A	uc004ehm.2	+	2	256	c.86G>A	c.(85-87)CGC>CAC	p.R29H	HNRNPH2_uc004ehn.2_Missense_Mutation_p.R29H	NM_019597	NP_062543	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2	29	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding				0						GAAGTGATGCGCTTCTTCTCT	0.512												
ARMCX5	64860	broad.mit.edu	37	X	101858527	101858527	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:101858527G>A	uc004ejg.2	+	6	2339	c.1458G>A	c.(1456-1458)GAG>GAA	p.E486E	ARMCX5_uc004ejh.2_Silent_p.E486E	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	486	ARM 3.						binding			ovary(1)	1						ACAAGAATGAGTCAAAGGCCA	0.308												
TSC22D3	1831	broad.mit.edu	37	X	107018464	107018464	+	Silent	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:107018464G>A	uc004enh.2	-	1	554	c.186C>T	c.(184-186)ACC>ACT	p.T62T	TSC22D3_uc004eni.2_Silent_p.T62T|TSC22D3_uc004enj.2_Silent_p.T62T	NM_198057	NP_932174	Q99576	T22D3_HUMAN	TSC22 domain family, member 3 isoform 1	Error:Variant_position_missing_in_Q99576_after_alignment							sequence-specific DNA binding transcription factor activity				0						TGAGCTTGTCGGTATTGAGGT	0.582												
IRS4	8471	broad.mit.edu	37	X	107978313	107978313	+	Missense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:107978313C>A	uc004eoc.2	-	1	1295	c.1262G>T	c.(1261-1263)AGG>ATG	p.R421M		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	421						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						TCTCCTTGACCTGCGCCCTCT	0.637												
IRS4	8471	broad.mit.edu	37	X	107978481	107978481	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:107978481G>A	uc004eoc.2	-	1	1127	c.1094C>T	c.(1093-1095)CCG>CTG	p.P365L		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	365						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						CGGCTCGAGCGGCACCAAGCC	0.637												
ALG13	79868	broad.mit.edu	37	X	111000877	111000877	+	Missense_Mutation	SNP	A	A	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:111000877A>G	uc011msy.1	+	26	3069	c.3035A>G	c.(3034-3036)CAT>CGT	p.H1012R	ALG13_uc011msx.1_Missense_Mutation_p.H829R|ALG13_uc011msz.1_Missense_Mutation_p.H934R|ALG13_uc011mta.1_Missense_Mutation_p.H829R|ALG13_uc011mtb.1_Missense_Mutation_p.H829R			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	1012					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1						CAGCAGCTTCATGTAGAGAAT	0.458												
ELF4	2000	broad.mit.edu	37	X	129200998	129200998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:129200998C>A	uc004evd.3	-	9	2075	c.1690G>T	c.(1690-1692)GAG>TAG	p.E564*	ELF4_uc004eve.3_Nonsense_Mutation_p.E564*	NM_001421	NP_001412	Q99607	ELF4_HUMAN	E74-like factor 4	564					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						CTCAGGGTCTCTTCAGGAACC	0.607			T	ERG	AML							
MAGEC2	51438	broad.mit.edu	37	X	141290965	141290965	+	Missense_Mutation	SNP	G	G	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:141290965G>T	uc004fbu.1	-	3	1157	c.809C>A	c.(808-810)CCT>CAT	p.P270H		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	270	MAGE.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCTCCCTAGGCTCCCCATA	0.532										HNSCC(46;0.14)		
GABRQ	55879	broad.mit.edu	37	X	151820208	151820208	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:151820208G>A	uc004ffp.1	+	8	1141	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	374						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTGCCCGCTACCGCTAC	0.537												
SLC6A8	6535	broad.mit.edu	37	X	152959879	152959879	+	Silent	SNP	C	C	T	rs122453118		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:152959879C>T	uc004fib.3	+	10	1751	c.1473C>T	c.(1471-1473)TGC>TGT	p.C491C	SLC6A8_uc004fic.3_Silent_p.C481C|SLC6A8_uc011myx.1_Silent_p.C376C|SLC6A8_uc010nuj.2_RNA	NM_005629	NP_005620	P48029	SC6A8_HUMAN	solute carrier family 6 member 8 isoform 1	491	Helical; (Potential).		C -> W (in XL-CDS).		creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TTTGGGAGTGCGTGGTGGTGG	0.662												
L1CAM	3897	broad.mit.edu	37	X	153133800	153133800	+	Missense_Mutation	SNP	G	G	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:153133800G>A	uc004fjb.2	-	13	1768	c.1660C>T	c.(1660-1662)CGT>TGT	p.R554C	L1CAM_uc004fjc.2_Missense_Mutation_p.R554C|L1CAM_uc010nuo.2_Missense_Mutation_p.R549C|L1CAM_uc004fjd.1_Missense_Mutation_p.R368C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	554	Ig-like C2-type 6.|Extracellular (Potential).|Cell attachment site (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)					CCGTCCCCACGCCAGGTGATG	0.612												
HCFC1	3054	broad.mit.edu	37	X	153219890	153219890	+	Silent	SNP	C	C	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:153219890C>T	uc004fjp.2	-	17	4488	c.3960G>A	c.(3958-3960)CCG>CCA	p.P1320P		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	1320	HCF repeat 6.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGCATGGCGGGTTGGAGC	0.672												
SPRY3	10251	broad.mit.edu	37	X	155004291	155004291	+	Missense_Mutation	SNP	A	A	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:155004291A>T	uc004fnq.1	+	2	1212	c.758A>T	c.(757-759)GAT>GTT	p.D253V	SPRY3_uc010nvl.1_Missense_Mutation_p.D154V	NM_005840	NP_005831	O43610	SPY3_HUMAN	sprouty homolog 3	253	SPR.|Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane					0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGGCTATGATAGCCTCCGG	0.602												
SEMA4F	10505	broad.mit.edu	37	2	74900583	74900583	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:74900582_74900582AG>A	uc002sna.1	+	6	662	c.551_splice	c.e6-2	p.G184_splice	SEMA4F_uc010ysb.1_Splice_Site_p.G120_splice|SEMA4F_uc021vjn.1_Splice_Site_p.G184_splice|SEMA4F_uc010ffq.1_Splice_Site_p.G151_splice|SEMA4F_uc010ffr.1_Splice_Site|SEMA4F_uc002snb.1_Splice_Site|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	184	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGCCCTGCAGGGGGGGTCC	0.587												
NDUFS1	4719	broad.mit.edu	37	2	206991571	206991573	+	Splice_Site	DEL	ACA	ACA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:206991570_206991572TACA>T	uc010ziq.2	-	17	1988	c.1927_splice	c.e17-1	p.I643_splice	NDUFS1_uc002vbe.3_Splice_Site_p.I629_splice|NDUFS1_uc010zir.2_Splice_Site_p.I593_splice|NDUFS1_uc010zis.2_Splice_Site_p.I572_splice|NDUFS1_uc010zit.2_Splice_Site_p.I518_splice|NDUFS1_uc010ziu.2_Splice_Site_p.I513_splice	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	629					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TCCAGCAATCTACAACATGTCAG	0.335												
MYLK	4638	broad.mit.edu	37	3	123368044	123368044	+	Splice_Site	DEL	G	G	-	rs138786404		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:123368043_123368043TG>T	uc003ego.3	-	25	4571	c.4289_splice	c.e25-1	p.E1430_splice	MYLK_uc010hrr.3_Splice_Site|MYLK_uc011bjv.2_Splice_Site_p.E230_splice|MYLK_uc011bjw.2_Splice_Site_p.E1430_splice|MYLK_uc003egp.3_Splice_Site_p.E1361_splice|MYLK_uc003egq.3_Splice_Site_p.E1430_splice|MYLK_uc003egr.3_Splice_Site_p.E1361_splice|MYLK_uc003egs.3_Splice_Site_p.E1254_splice	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1430	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTTCGGCTCTGGGGGGGGCA	0.622												
DNAJB14	79982	broad.mit.edu	37	4	100827771	100827771	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:100827770_100827770TA>T	uc003hvl.3	-	5	789	c.638_splice	c.e5-1	p.G213_splice	DNAJB14_uc003hvk.3_Splice_Site_p.G128_splice|DNAJB14_uc010ili.3_Splice_Site_p.G146_splice	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 14 (DNAJB14), transcript variant 1, mRNA.	213					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GTACACTACCTAAAAAATTAA	0.299												
COL25A1	84570	broad.mit.edu	37	4	109753592	109753593	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:109753591_109753592T>TA	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCTGTACCCTAAAAAAAAGAT	0.391												
SSBP2	23635	broad.mit.edu	37	5	80769592	80769592	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:80769591_80769591TA>T	uc003khp.3	-	8	711	c.500_splice	c.e8-1	p.G167_splice	SSBP2_uc003khn.3_Splice_Site_p.G41_splice|SSBP2_uc011ctr.2_Splice_Site_p.G137_splice|SSBP2_uc003kho.3_Splice_Site_p.G167_splice|SSBP2_uc011ctp.2_Splice_Site_p.G147_splice|SSBP2_uc011ctq.2_Splice_Site_p.G137_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	167	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGGATGTCCTAAAAAAAGTA	0.428												
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	DEL	T	T	-	rs35128811		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:152539539_152539539CT>C	uc021zhb.1	-	119	22268	c.22045_splice	c.e119-1	p.A7349_splice	SYNE1_uc003qos.4_Splice_Site_p.A1873_splice|SYNE1_uc003qot.4_Splice_Site_p.A7278_splice|SYNE1_uc003qou.4_Splice_Site_p.A7349_splice|SYNE1_uc003qor.4_Splice_Site_p.A249_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTCCAGCCTTTTTTTCCA	0.343										HNSCC(10;0.0054)		
LPA	4018	broad.mit.edu	37	6	160968822	160968823	+	Splice_Site	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:160968821_160968822A>AT	uc003qtl.3	-	33	5424	c.5304_splice	c.e33+1	p.N1768_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4276	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGGCTTACATTTTTTTCCAG	0.470												
ZDHHC4	55146	broad.mit.edu	37	7	6624647	6624648	+	Splice_Site	DEL	GT	GT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:6624646_6624647GGT>G	uc003sqi.3	+	8	855	c.497_splice	c.e8-1	p.S166_splice	ZDHHC4_uc003sql.3_Splice_Site_p.S166_splice|ZDHHC4_uc003sqj.3_Splice_Site_p.S166_splice|ZDHHC4_uc003sqh.3_Splice_Site_p.S166_splice	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	166						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TTTCTGTGCAGGTGTGTGTAAC	0.520												
NBN	4683	broad.mit.edu	37	8	90967512	90967512	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:90967511_90967511CT>C	uc003yej.1	-	10	1507	c.1397_splice	c.e10+1	p.R466_splice	NBN_uc011lgb.1_Splice_Site_p.R466_splice|NBN_uc003yei.1_Splice_Site_p.R384_splice	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	466					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAAAACAGACCTTTTTTTGGT	0.338								Homologous recombination				
SEC31B	25956	broad.mit.edu	37	10	102265255	102265255	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102265254_102265254TG>T	uc001krc.1	-	10	1147	c.1045_splice	c.e10-1	p.I349_splice	SEC31B_uc010qpo.1_Splice_Site_p.I348_splice|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_Splice_Site|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	349					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAA	0.532												
HSD17B12	51144	broad.mit.edu	37	11	43859951	43859952	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:43859950_43859951T>TA	uc001mxq.4	+	8	853	c.618_splice	c.e8+2	p.K206_splice		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	206					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						GCAACCAAGGTAAAAAATATTT	0.356												
SF3B2	10992	broad.mit.edu	37	11	65836146	65836146	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:65836145_65836145CA>C	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
DACH1	1602	broad.mit.edu	37	13	72049984	72049984	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:72049983_72049983TA>T	uc021rkj.1	-	9	2300	c.1877_splice	c.e9-1	p.A626_splice	DACH1_uc021rkk.1_Splice_Site_p.A478_splice|DACH1_uc021rkl.1_Splice_Site_p.A424_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	676	DACHbox-C.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAACTATGGCTAAAAAAGAGT	0.308												
DDHD1	80821	broad.mit.edu	37	14	53540568	53540568	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:53540567_53540567TA>T	uc001xai.3	-	5	1520	c.1290_splice	c.e5-1	p.M430_splice	DDHD1_uc001xaj.3_Splice_Site_p.M437_splice|DDHD1_uc001xah.3_Splice_Site_p.M430_splice|DDHD1_uc001xag.3_Splice_Site_p.M12_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	430					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTCTCATCCTAAAAAAACAA	0.313												
MYO5C	55930	broad.mit.edu	37	15	52564923	52564923	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:52564922_52564922TA>T	uc010bff.3	-	6	769	c.607_splice	c.e6-1	p.A203_splice	MYO5C_uc010uga.2_Splice_Site|MYO5C_uc010ugb.2_Splice_Site|MYO5C_uc010ugc.2_Splice_Site_p.A166_splice	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	203	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCAACGGCCTAAAAAAAATA	0.363												
PIGB	9488	broad.mit.edu	37	15	55621922	55621923	+	Splice_Site	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:55621921_55621922G>GT	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342												
VPS13C	54832	broad.mit.edu	37	15	62257063	62257063	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:62257062_62257062TA>T	uc002agz.3	-	31	3143	c.3052_splice	c.e31-1	p.V1018_splice	VPS13C_uc002aha.3_Splice_Site_p.V975_splice|VPS13C_uc002ahb.2_Splice_Site_p.V1018_splice|VPS13C_uc002ahc.2_Splice_Site_p.V975_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1018					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGGCCACCTAAAAATGTTT	0.373												
COG4	25839	broad.mit.edu	37	16	70530337	70530337	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:70530336_70530336TG>T	uc002ezc.3	-	12	1493	c.1482_splice	c.e12-1	p.R494_splice	COG4_uc002ezd.3_Splice_Site_p.R494_splice|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site_p.R188_splice	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	490					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAACATCCCTGGGGGGCAGG	0.567												
C16orf7	9605	broad.mit.edu	37	16	89778933	89778933	+	Splice_Site	DEL	G	G	-	rs143123169	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:89778932_89778932TG>T	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAG	0.667												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
LMAN1	3998	broad.mit.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:57013284_57013284CT>C	uc002lhz.3	-	8	855	c.823_splice	c.e8-1	p.P275_splice		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	275					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	CTGGTGTGGGCTTTTTTTTGG	0.294												
APOC4	346	broad.mit.edu	37	19	45451758	45451759	+	RNA	DEL	CT	CT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45451757_45451758GCT>G	uc002pah.3	+	3		c.1229_1230GCT>G			APOC4_uc021uvn.1_Non-coding_Transcript	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		ACTCCTCCCAGCTCTGTTTCTT	0.599												
CASZ1	54897	broad.mit.edu	37	1	10708013	10708013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:10708013delG	uc001aro.2	-	16	3662	c.3342delC	c.(3340-3342)CCCfs	p.P1114fs	CASZ1_uc001arp.1_Frame_Shift_Del_p.P1114fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGAGCAGGGTGGGGGTGGAGG	0.701												
PRAMEF14	729528	broad.mit.edu	37	1	13668962	13668962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:13668962delG	uc009vnw.1	-	4	1407	c.1224delC	c.(1222-1224)CCCfs	p.P408fs		NM_001099854	NP_001093324	Q5SWL7	PRA14_HUMAN	PRAME family member 14	408											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAAGGGCAGGGGGTGGGAC	0.557												
CDC20	991	broad.mit.edu	37	1	43824946	43824946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:43824946delC	uc001cix.2	+	2	161	c.60delC	c.(58-60)ATCfs	p.I20fs	CDC20_uc001ciy.2_Frame_Shift_Del_p.I20fs	NM_001255	NP_001246	Q12834	CDC20_HUMAN	cell division cycle 20	20					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGCACCCATCCCCAATGCAC	0.692												
NAV1	89796	broad.mit.edu	37	1	201618271	201618272	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201618271_201618272insC	uc001gwu.2	+	1	822_823	c.475_476insC	c.(475-477)ACCfs	p.T159fs		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	159					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CGGCGCCAAGACCCCCCTGGCT	0.698												
AVPR1B	553	broad.mit.edu	37	1	206224496	206224496	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:206224496delC	uc001hds.2	+	1	214	c.56delC	c.(55-57)GCCfs	p.A19fs		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	19	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	ACCCTCTCTGCCCCCAATGCC	0.652												
G0S2	50486	broad.mit.edu	37	1	209849053	209849053	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:209849053delC	uc001hhi.3	+	2	281	c.24delC	c.(22-24)ATCfs	p.I8fs		NM_015714	NP_056529	P27469	G0S2_HUMAN	G0/G1switch 2	8					cell cycle						0				OV - Ovarian serous cystadenocarcinoma(81;0.041)		AGGAGCTGATCCCCCTGGCCA	0.642												
RCOR3	55758	broad.mit.edu	37	1	211451507	211451507	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:211451507delA	uc001hig.2	+	5	560	c.391delA	c.(391-393)AAAfs	p.K131fs	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Frame_Shift_Del_p.K189fs|RCOR3_uc010psw.1_Frame_Shift_Del_p.K189fs|RCOR3_uc001hif.2_Frame_Shift_Del_p.K189fs	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	131	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CTATTCTTGGAAAAAAACTCG	0.338												
SMYD2	56950	broad.mit.edu	37	1	214488155	214488156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:214488155_214488156insG	uc010ptx.1	+	3	321_322	c.288_289insG	c.(286-291)TTTGGGfs	p.F96fs	SMYD2_uc009xdj.2_Frame_Shift_Ins_p.F4fs|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	96_97					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGGTTGTTTTTGGGGAAAACTG	0.396												
RAB3GAP2	25782	broad.mit.edu	37	1	220338127	220338127	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:220338127delA	uc010puk.1	-	27	3266	c.3102delT	c.(3100-3102)TTTfs	p.F1034fs	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Frame_Shift_Del_p.F614fs|RAB3GAP2_uc001hmh.2_5'UTR	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	1034					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)		TTGACCTAACAAAAAAACGTG	0.313												
TMEM63A	9725	broad.mit.edu	37	1	226034752	226034752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:226034752delG	uc001hpm.1	-	24	2663	c.2413delC	c.(2413-2415)CAGfs	p.Q805fs		NM_014698	NP_055513	O94886	TM63A_HUMAN	transmembrane protein 63A	805						integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)					CAGGCCTCCTGGGGGGCAGCA	0.647												
KIF26B	55083	broad.mit.edu	37	1	245849907	245849908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245849907_245849908insC	uc001ibf.1	+	12	4062_4063	c.3622_3623insC	c.(3622-3624)ACCfs	p.T1208fs	KIF26B_uc001ibg.1_Frame_Shift_Ins_p.T826fs|KIF26B_uc001ibh.1_Frame_Shift_Ins_p.T450fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1208					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGCCGCCCCACCAGCATCATC	0.663												
TNKS2	80351	broad.mit.edu	37	10	93610997	93610998	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:93610997_93610998insT	uc001khp.2	+	21	3016_3017	c.2719_2720insT	c.(2719-2721)ATGfs	p.M907fs		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	907	SAM.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				ATTAGTTGAGATGGGGCACAAG	0.371												
RBMXL2	27288	broad.mit.edu	37	11	7110404	7110404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:7110404delA	uc001mfc.2	+	1	240	c.53delA	c.(52-54)GAAfs	p.E18fs		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	18	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCAACCTCGAAACCGACGAG	0.607												
RAD9A	5883	broad.mit.edu	37	11	67164978	67164978	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:67164978delC	uc001okr.2	+	11	1217	c.1124delC	c.(1123-1125)TCCfs	p.S375fs	RAD9A_uc001oks.2_Frame_Shift_Del_p.S232fs	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	375	Sufficient for interaction with ABL1.			S->A: Complete loss of phosphorylation and no loss of interaction with the 9-1-1 complex; when associated with A-272; A- 277; A-328; A-341; A-380 and A-387.	DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCTGTACGCTCCCCCCAGGGC	0.612								Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes				
KIF21A	55605	broad.mit.edu	37	12	39734129	39734129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:39734129delT	uc001rly.2	-	16	2294	c.2148delA	c.(2146-2148)AAAfs	p.K716fs	KIF21A_uc001rlw.2_Frame_Shift_Del_p.K33fs|KIF21A_uc001rlx.2_Frame_Shift_Del_p.K703fs|KIF21A_uc001rlz.2_Frame_Shift_Del_p.K703fs|KIF21A_uc010skl.1_Frame_Shift_Del_p.K703fs	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	716					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CAGACCTAACTTTTTTTGCTT	0.343												
POLR3B	55703	broad.mit.edu	37	12	106773822	106773822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:106773822delA	uc001tlp.2	+	9	850	c.628delA	c.(628-630)AAAfs	p.K210fs	POLR3B_uc001tlq.2_Frame_Shift_Del_p.K152fs	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	210					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2						TACCCATGAGAAAAAAAGCAG	0.333												
ZMYM5	9205	broad.mit.edu	37	13	20411844	20411844	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:20411844delT	uc010tcn.1	-	6	1255	c.990delA	c.(988-990)AAAfs	p.K330fs	ZMYM5_uc001umm.1_Frame_Shift_Del_p.K154fs|ZMYM5_uc001umn.2_Frame_Shift_Del_p.K330fs|ZMYM5_uc001umo.2_3'UTR	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	330	MYM-type 2.					nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TAAAAACTCCTTTTTTAAGAT	0.313												
EFHA1	221154	broad.mit.edu	37	13	22069321	22069322	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:22069321_22069322insT	uc001uof.2	-	11	1200_1201	c.1178_1179insA	c.(1177-1179)AACfs	p.N393fs	EFHA1_uc010tct.1_Frame_Shift_Ins_p.N183fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	EF-hand domain family, member A1	393	EF-hand 4.						calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		GATGCATTCTGTTTTTTAACAC	0.317												
FLT1	2321	broad.mit.edu	37	13	29041262	29041262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:29041262delC	uc001usb.3	-	3	451	c.166delG	c.(166-168)GAAfs	p.E56fs	FLT1_uc010aar.1_Frame_Shift_Del_p.E56fs|FLT1_uc001usc.3_Frame_Shift_Del_p.E56fs|FLT1_uc010tdp.1_Frame_Shift_Del_p.E56fs|FLT1_uc001usd.2_Frame_Shift_Del_p.E56fs	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	56	Ig-like C2-type 1.|Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGGGCTGCTTCCCCCCTGCAA	0.453												
C13orf33	84935	broad.mit.edu	37	13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:31480852delG	uc001uth.3	+	1	541	c.200delG	c.(199-201)CGGfs	p.R67fs	uc001utg.1_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	hypothetical protein LOC84935	67											0		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		gcggcggcgcgggggggcTTC	0.582												
SYNE2	23224	broad.mit.edu	37	14	64519635	64519635	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:64519635delA	uc001xgm.2	+	48	9234	c.9004delA	c.(9004-9006)AAAfs	p.K3002fs	SYNE2_uc001xgl.2_Frame_Shift_Del_p.K3002fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3002	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTGAAACTTAAAAAAGTGTT	0.303												
CPSF2	53981	broad.mit.edu	37	14	92620755	92620756	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:92620755_92620756delAG	uc001yah.1	+	10	1431_1432	c.1194_1195delAG	c.(1192-1197)AAAGAGfs	p.K398fs		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	398_399					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACTTGGAAAAAGAGAAACTAAA	0.302												
MPI	4351	broad.mit.edu	37	15	75185605	75185607	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:75185605_75185607delAGA	uc002azc.1	+	5	619_621	c.614_616delAGA	c.(613-618)GAGAAG>GAG	p.K207del	MPI_uc010ulv.1_In_Frame_Del_p.K207del|MPI_uc010ulw.1_Intron|MPI_uc002azd.1_In_Frame_Del_p.K207del|MPI_uc010ulx.1_In_Frame_Del_p.K157del|MPI_uc002aze.1_Intron	NM_002435	NP_002426	P34949	MPI_HUMAN	mannose-6- phosphate isomerase	207					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			ovary(2)	2						ATGAAGAGTGAGAAGAAGGTGGT	0.557												
PRSS8	5652	broad.mit.edu	37	16	31146738	31146739	+	Frame_Shift_Ins	INS	-	-	C	rs8049043	by1000genomes	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31146738_31146739insC	uc002ebc.3	-	1	413_414	c.81_82insG	c.(79-84)GGGACAfs	p.G27fs	PRSS8_uc010vfe.1_Frame_Shift_Ins_p.G27fs	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	prostasin preproprotein	27_28					proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity				0						CACTTACCTGTCCCCGACCGGA	0.639												
PAFAH1B1	5048	broad.mit.edu	37	17	2579802	2579802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:2579802delA	uc002fuw.3	+	9	1472	c.904delA	c.(904-906)AAAfs	p.K302fs	PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase,	302	WD 5.|Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			skin(1)	1						TCTGTAGACTAAAAAAAGTGG	0.358												
ESCO1	114799	broad.mit.edu	37	18	19154750	19154750	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:19154750delT	uc002kth.1	-	4	989	c.55delA	c.(55-57)AGTfs	p.S19fs	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	19					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TTATCGTCACTTTTTTTAGTA	0.328												
DSEL	92126	broad.mit.edu	37	18	65180521	65180521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:65180521delC	uc002lke.1	-	2	2579	c.1355delG	c.(1354-1356)GGAfs	p.G452fs		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	442						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				CACAGCTCGTCCCCCCAGCTT	0.458												
SAFB	6294	broad.mit.edu	37	19	5667115	5667115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5667115delG	uc002mcf.2	+	18	2446	c.2393delG	c.(2392-2394)TGGfs	p.W798fs	SAFB_uc002mcg.2_Frame_Shift_Del_p.W798fs|SAFB_uc002mce.3_Frame_Shift_Del_p.W797fs|SAFB_uc010xir.1_Frame_Shift_Del_p.W797fs|SAFB_uc010xis.1_Frame_Shift_Del_p.W729fs|SAFB_uc010xit.1_Frame_Shift_Del_p.W640fs|SAFB_uc010xiu.1_Frame_Shift_Del_p.W597fs	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	798	Interaction with SAFB2.|Arg-rich.|Gly-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGATGGCTGGGGGGGCTAT	0.642												
S1PR5	53637	broad.mit.edu	37	19	10624889	10624889	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10624889delG	uc002mot.1	-	2	856	c.799delC	c.(799-801)CTCfs	p.L267fs	S1PR5_uc002mou.1_Frame_Shift_Del_p.L267fs	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	endothelial differentiation, sphingolipid	267	Helical; Name=6; (By similarity).					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|pancreas(1)	2						AGCAGGAAGAGGGGGCCCCAA	0.692												
CCDC88A	55704	broad.mit.edu	37	2	55562112	55562112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:55562112delT	uc002ryv.2	-	15	2687	c.1845delA	c.(1843-1845)AAAfs	p.K615fs	CCDC88A_uc010yoz.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypa.1_Frame_Shift_Del_p.K615fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.K517fs|CCDC88A_uc002ryu.2_5'UTR|CCDC88A_uc002ryw.2_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	615	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4						GTTCCAATTCTTTTTTAATTT	0.254												
PRPF40A	55660	broad.mit.edu	37	2	153529111	153529111	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:153529111delT	uc002tyi.2	-	13	1326	c.1313delA	c.(1312-1314)AAGfs	p.K438fs	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc002tyh.3_Frame_Shift_Del_p.K411fs|PRPF40A_uc010zcd.1_Frame_Shift_Del_p.K358fs|PRPF40A_uc002tyj.2_Frame_Shift_Del_p.K307fs	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	438	FF 1.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						AAAGGCTTGCTTTTTTTCACT	0.308												
EEF1B2	1933	broad.mit.edu	37	2	207027606	207027607	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:207027606_207027607delAA	uc002vbf.1	+	7	835_836	c.677_678delAA	c.(676-678)TAAfs	p.*226fs	EEF1B2_uc002vbg.1_Frame_Shift_Del_p.*226fs|EEF1B2_uc002vbh.1_Frame_Shift_Del_p.*226fs	NM_001037663	NP_001032752	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta	226						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AACAAGATCTAAAATCCATCCT	0.386												
MMP24	10893	broad.mit.edu	37	20	33862189	33862191	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:33862189_33862191delAGG	uc002xbu.2	+	9	1718_1720	c.1715_1717delAGG	c.(1714-1719)AAGGAG>AAG	p.E573del	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	matrix metalloproteinase 24 preproprotein	573	Extracellular (Potential).				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGCAACCAGAAGGAGGTGGAGCG	0.631												
C21orf70	85395	broad.mit.edu	37	21	46396683	46396684	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:46396683_46396684insG	uc002zgl.2	+	6	676_677	c.658_659insG	c.(658-660)CGGfs	p.R220fs	C21orf70_uc002zgm.2_Frame_Shift_Ins_p.R205fs	NM_058190	NP_478070	Q9NSI2	CU070_HUMAN	hypothetical protein LOC85395	220											0				Colorectal(79;0.248)		GACGCTGGCCCGGCAGATGCAG	0.653												
CECR6	27439	broad.mit.edu	37	22	17600531	17600531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr22:17600531delA	uc002zmb.2	-	1	1683	c.1487delT	c.(1486-1488)CTCfs	p.L496fs	CECR6_uc002zma.2_Frame_Shift_Del_p.L141fs|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	496											0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GAAGATGGAGAGGGGCTGCTG	0.701												
DOCK3	1795	broad.mit.edu	37	3	51418820	51418820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:51418820delC	uc011bds.1	+	53	5946	c.5923delC	c.(5923-5925)CCCfs	p.P1975fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1975	SH3-binding (Potential).					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCGCTGCCGCCCAAGCCCTA	0.697												
PXK	54899	broad.mit.edu	37	3	58368270	58368271	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:58368270_58368271insA	uc003djz.1	+	4	330_331	c.231_232insA	c.(229-234)CCCAAAfs	p.P77fs	PXK_uc003djx.1_Frame_Shift_Ins_p.P77fs|PXK_uc003djy.1_Frame_Shift_Ins_p.P60fs|PXK_uc003dka.1_Frame_Shift_Ins_p.P77fs|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Frame_Shift_Ins_p.P60fs|PXK_uc011bfe.1_Frame_Shift_Ins_p.P44fs|PXK_uc010hnj.1_Frame_Shift_Ins_p.P44fs|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	77_78	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTCTTCCTCCCAAAAAATTGAT	0.342												
DMXL1	1657	broad.mit.edu	37	5	118485859	118485859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:118485859delT	uc003ksd.2	+	18	4518	c.4337delT	c.(4336-4338)CTTfs	p.L1446fs	DMXL1_uc010jcl.1_Frame_Shift_Del_p.L1446fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1446										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATGATGAGCTTTTTCAGACT	0.348												
ZFP2	80108	broad.mit.edu	37	5	178358352	178358352	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:178358352delA	uc003mjn.1	+	5	547	c.38delA	c.(37-39)GAAfs	p.E13fs	ZFP2_uc010jky.2_Frame_Shift_Del_p.E13fs|ZFP2_uc010jkx.1_Frame_Shift_Del_p.E13fs	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	zinc finger protein 2 homolog	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		ACTCTAGGGGAAACCTGGGAA	0.453												
TNXB	7148	broad.mit.edu	37	6	32010293	32010293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32010293delC	uc003nzl.2	-	40	12345	c.12143delG	c.(12142-12144)GGCfs	p.G4048fs	TNXB_uc003nzg.1_Frame_Shift_Del_p.G479fs|TNXB_uc003nzh.1_Frame_Shift_Del_p.G517fs	NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	4095	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0						CTCGCGGTTGCCGTTGAGGAA	0.667												
HLA-DPB1	3115	broad.mit.edu	37	6	33043844	33043844	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:33043844delC	uc003ocu.1	+	1	85	c.26delC	c.(25-27)GCCfs	p.A9fs	HLA-DPA1_uc003ocs.1_5'Flank|HLA-DPA1_uc010juk.2_5'Flank|HLA-DPA1_uc003oct.1_Intron|HLA-DPB1_uc011dqn.1_RNA|HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Frame_Shift_Del_p.A8fs	NM_002121	NP_002112	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP	9					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				ovary(1)	1						GTTTCTGCGGCCCCCCGGACA	0.552												
AKAP12	9590	broad.mit.edu	37	6	151672999	151673000	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151672999_151673000insC	uc011eep.1	+	4	3713_3714	c.3473_3474insC	c.(3472-3474)ATCfs	p.I1158fs	AKAP12_uc003qoe.2_Frame_Shift_Ins_p.I1158fs|AKAP12_uc003qof.2_Frame_Shift_Ins_p.I1060fs|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Frame_Shift_Ins_p.I1053fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	1158					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACAGGCTATCCCCCCTGACT	0.530												
TNRC18	84629	broad.mit.edu	37	7	5410321	5410321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:5410321delC	uc003soi.3	-	11	4253	c.3904delG	c.(3904-3906)GAGfs	p.E1302fs		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1302							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CACTGTCCCTCCCCGGCGGGC	0.672												
PCLO	27445	broad.mit.edu	37	7	82585203	82585204	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:82585203_82585204insT	uc003uhx.2	-	5	5354_5355	c.5065_5066insA	c.(5065-5067)ACAfs	p.T1689fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.T1689fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ATACAAACTTGTTTTTTTCTGT	0.426												
CYP3A4	1576	broad.mit.edu	37	7	99377640	99377640	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:99377640delA	uc003urv.1	-	2	244	c.140delT	c.(139-141)TTGfs	p.L47fs	CYP3A4_uc003urw.1_Frame_Shift_Del_p.L47fs|CYP3A4_uc011kiz.1_Frame_Shift_Del_p.L47fs|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A,	47					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			central_nervous_system(3)|ovary(1)	4	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATATTTCCCAAAAAAGGCAG	0.403												
CFTR	1080	broad.mit.edu	37	7	117232305	117232305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:117232305delA	uc003vjd.2	+	14	2216	c.2084delA	c.(2083-2085)GAAfs	p.E695fs	CFTR_uc011knq.1_Frame_Shift_Del_p.E101fs	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	695	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAGTTTGGGGAAAAAAGGAAG	0.378									Cystic_Fibrosis			
CADPS2	93664	broad.mit.edu	37	7	122194676	122194676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:122194676delT	uc010lkp.2	-	8	1566	c.1403delA	c.(1402-1404)AATfs	p.N468fs	CADPS2_uc003vkg.3_Frame_Shift_Del_p.N168fs|CADPS2_uc010lkq.2_Frame_Shift_Del_p.N468fs	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	468					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2						ATCCTGGCTATTTTTTGGAAC	0.363												
CCDC136	64753	broad.mit.edu	37	7	128434431	128434436	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:128434431_128434436delGAGGAA	uc003vnv.1	+	2	413_418	c.46_51delGAGGAA	c.(46-51)GAGGAAdel	p.EE24del	CCDC136_uc003vnu.1_In_Frame_Del_p.EE74del|CCDC136_uc003vnw.1_In_Frame_Del_p.EE24del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	24_25	Glu-rich.					integral to membrane	protein binding			ovary(2)	2						TCTCTATgaggaggaagaggaagagg	0.403												
SOX17	64321	broad.mit.edu	37	8	55372288	55372288	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:55372288delC	uc003xsb.3	+	2	1182	c.978delC	c.(976-978)CACfs	p.H326fs		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	326	Gln/Pro-rich.|Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			accagcaccaCCCCCCGGGCC	0.532												
TP53INP1	94241	broad.mit.edu	37	8	95952276	95952277	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:95952276_95952277insCT	uc003yhg.2	-	3	668_669	c.284_285insAG	c.(283-285)AGCfs	p.S95fs	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Frame_Shift_Ins_p.S95fs	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	95					apoptosis	PML body					0	Breast(36;8.75e-07)					TGATAAACCAGCTCTCCTCCAT	0.465												
RGS22	26166	broad.mit.edu	37	8	101075899	101075899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:101075899delA	uc003yjb.1	-	8	1292	c.1097delT	c.(1096-1098)TTAfs	p.L366fs	RGS22_uc003yja.1_Frame_Shift_Del_p.L185fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.L354fs|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	366					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAATTCACTTAAAAAATTCTT	0.378												
CSMD3	114788	broad.mit.edu	37	8	113348969	113348969	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:113348969delA	uc003ynu.2	-	44	7090	c.6931delT	c.(6931-6933)TGGfs	p.W2311fs	CSMD3_uc003yns.2_Frame_Shift_Del_p.W1513fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.W2271fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.W2207fs|CSMD3_uc003ynw.1_Frame_Shift_Del_p.W22fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2311	Extracellular (Potential).|CUB 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						CTTACAAGCCAAAAACAATCT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRIB1	10221	broad.mit.edu	37	8	126445691	126445691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:126445691delG	uc003yrx.2	+	2	1075	c.493delG	c.(493-495)GGGfs	p.G165fs	TRIB1_uc011lis.1_5'UTR|TRIB1_uc010mdn.2_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	165	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GAAGGACTTTGGGGACATGCA	0.567												
PTP4A3	11156	broad.mit.edu	37	8	142437063	142437063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:142437063delC	uc003ywg.1	+	3	557	c.223delC	c.(223-225)CCCfs	p.P75fs	PTP4A3_uc003ywh.1_Frame_Shift_Del_p.P75fs|PTP4A3_uc010met.1_Intron	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	75						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)			CGATGGGGCGCCCCCGCCCGG	0.677												
FAM83H	286077	broad.mit.edu	37	8	144809289	144809289	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:144809289delC	uc003yzk.2	-	5	2411	c.2342delG	c.(2341-2343)GGCfs	p.G781fs	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	781					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCGCTCGCCCCCCACGGC	0.652												
SH3KBP1	30011	broad.mit.edu	37	X	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:19560215delG	uc004czm.2	-	16	2036	c.1720delC	c.(1720-1722)CTGfs	p.L574fs	SH3KBP1_uc011mje.1_Frame_Shift_Del_p.L313fs|SH3KBP1_uc011mjf.1_Frame_Shift_Del_p.L336fs|SH3KBP1_uc004czl.2_Frame_Shift_Del_p.L537fs|SH3KBP1_uc010nfm.2_Frame_Shift_Del_p.L19fs	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1 isoform a	574					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding				0						GAGGATGACAGGGGGGAGGGC	0.647												
DMD	1756	broad.mit.edu	37	X	31196876	31196876	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:31196876delT	uc004dda.1	-	70	10377	c.10133delA	c.(10132-10134)AACfs	p.N3378fs	DMD_uc004dcq.1_Frame_Shift_Del_p.N649fs|DMD_uc004dcr.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcs.1_Frame_Shift_Del_p.N918fs|DMD_uc004dct.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcu.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcv.1_Frame_Shift_Del_p.N918fs|DMD_uc004dcw.2_Frame_Shift_Del_p.N2034fs|DMD_uc004dcx.2_Frame_Shift_Del_p.N2037fs|DMD_uc004dcz.2_Frame_Shift_Del_p.N3255fs|DMD_uc004dcy.1_Frame_Shift_Del_p.N3374fs|DMD_uc004ddb.1_Frame_Shift_Del_p.N3370fs|DMD_uc004dcm.1_Frame_Shift_Del_p.N310fs|DMD_uc004dcn.1_Frame_Shift_Del_p.N310fs|DMD_uc004dco.1_Frame_Shift_Del_p.N310fs|DMD_uc004dcp.1_Frame_Shift_Del_p.N310fs|DMD_uc011mkb.1_Frame_Shift_Del_p.N310fs|DMD_uc010ngm.2_Frame_Shift_Del_p.N310fs	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	3378	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCGAAATTTGTTTTTTAGTAC	0.428												
FAM123B	139285	broad.mit.edu	37	X	63410309	63410309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:63410309delG	uc004dvo.2	-	2	3131	c.2858delC	c.(2857-2859)CCAfs	p.P953fs		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	953	Pro-rich.				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						ATAGGCCCCTGGGGGTTCAGT	0.597												
RPS6KA6	27330	broad.mit.edu	37	X	83403063	83403063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:83403063delT	uc004eej.1	-	4	404	c.327delA	c.(325-327)AAAfs	p.K109fs	RPS6KA6_uc011mqt.1_Frame_Shift_Del_p.K109fs|RPS6KA6_uc011mqu.1_Frame_Shift_Del_p.K6fs|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	109	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TTAAAGAGGCTTTTTTTAACA	0.303												
HTATSF1	27336	broad.mit.edu	37	X	135594074	135594075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:135594074_135594075insG	uc004ezw.2	+	10	2592_2593	c.2170_2171insG	c.(2170-2172)AGGfs	p.R724fs	HTATSF1_uc004ezx.2_Frame_Shift_Ins_p.R724fs	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	724	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					TTCTGATGAGAGGGGGACTTTG	0.441												
ARHGAP4	393	broad.mit.edu	37	X	153178181	153178182	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:153178181_153178182delAA	uc004fjk.1	-	12	1556_1557	c.1514_1515delTT	c.(1513-1515)TTTfs	p.F505fs	ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Frame_Shift_Del_p.F482fs|ARHGAP4_uc004fjl.1_Frame_Shift_Del_p.F545fs|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	505					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTCCCCCAAAGAGTCTCTG	0.550												
ENO1	2023	broad.mit.edu	37	1	8927232	8927232	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:8927231_8927231AG>A	uc001apj.2	-	5	911	c.389_389CT>T	c.(388-390)ctgfs	p.L130fs	ENO1_uc001api.2_Frame_Shift_Del_p.L37fs|ENO1_uc009vml.2_Frame_Shift_Del_p.L130fs	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	130	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GTGGCGGTACAGGGGGACCCC	0.562												
SLC25A34	284723	broad.mit.edu	37	1	16065731	16065731	+	Frame_Shift_Del	DEL	G	G	-	rs144853636	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:16065730_16065730TG>T	uc001axb.1	+	4	916	c.744_744TG>T	c.(742-744)tatfs	p.Y248fs		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	248					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGCTCTATGGGGGCCTCA	0.657												
TCEB3	6924	broad.mit.edu	37	1	24077927	24077929	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:24077926_24077928AGAG>A	uc001bho.3	+	3	969_971	c.909_911AGAG>A	c.(907-912)aaagag>aaAg	p.E305del		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	305					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCTCTCCAAAGAGGAGAACCGA	0.547											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
PHACTR4	65979	broad.mit.edu	37	1	28800273	28800273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:28800272_28800272TC>T	uc001bpy.3	+	5	1295	c.1060_1060TC>T	c.(1060-1062)tccfs	p.S354fs	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Frame_Shift_Del_p.S344fs|PHACTR4_uc001bpx.3_Frame_Shift_Del_p.S328fs	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACT	0.512												
MAP7D1	55700	broad.mit.edu	37	1	36636764	36636765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:36636763_36636764G>GC	uc001bzz.3	+	1	454_455	c.238_239G>GC	c.(238-240)gccfs	p.A80fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	80	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653												
ZC3H12A	80149	broad.mit.edu	37	1	37945912	37945914	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:37945911_37945913TCTC>T	uc001cbb.4	+	2	614_616	c.464_466TCTC>T	c.(463-468)ttctcc>tTcc	p.S156del	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	156					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGAGGTCTTCTCCTGCCGGGG	0.635												
HIVEP3	59269	broad.mit.edu	37	1	42048809	42048809	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:42048808_42048808TG>T	uc001cgz.4	-	3	2874	c.1661_1661CA>A	c.(1660-1662)cacfs	p.H554fs	HIVEP3_uc001cha.4_Frame_Shift_Del_p.H554fs|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	554	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGGGGTGGTGGGGGGTGCT	0.627												
PCSK9	255738	broad.mit.edu	37	1	55512313	55512313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:55512312_55512312GC>G	uc001cyf.2	+	2	878	c.516_516GC>G	c.(514-516)cagfs	p.Q172fs	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	172	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ATGAATACCAGCCCCCCGGTA	0.612												
C1orf168	199920	broad.mit.edu	37	1	57202768	57202768	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:57202767_57202767CT>C	uc001cym.4	-	14	2192	c.1786_1786AG>G	c.(1786-1788)gagfs	p.E596fs	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	596										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TACTTTGACTCTTTTTCACTC	0.338												
LRRIQ3	127255	broad.mit.edu	37	1	74507481	74507481	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:74507480_74507480GA>G	uc001dfy.4	-	6	1327	c.1135_1135TC>C	c.(1135-1137)cctfs	p.P379fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	379								p.P379fs*26(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GGATATGCAGGAAAAAAATGT	0.353												
DNAJB4	11080	broad.mit.edu	37	1	78479136	78479136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:78479135_78479135TA>T	uc001dij.3	+	1	771	c.612_612TA>T	c.(610-612)attfs	p.I204fs	DNAJB4_uc010orn.2_Frame_Shift_Del_p.I89fs	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	204					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCATTGAGATTAAAAAAGGGT	0.358												
GBP7	388646	broad.mit.edu	37	1	89613322	89613322	+	Frame_Shift_Del	DEL	C	C	-	rs138127555		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:89613321_89613321GC>G	uc001dna.2	-	7	1433	c.1294_1294GC>C	c.(1294-1296)cacfs	p.H432fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGA	0.438												
SLC6A17	388662	broad.mit.edu	37	1	110719306	110719306	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:110719305_110719305CG>C	uc009wfq.3	+	5	1269	c.808_808CG>C	c.(808-810)cggfs	p.R270fs		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	270					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTTCCTGGTCCGGGGGCTGTT	0.597												
TTF2	8458	broad.mit.edu	37	1	117635478	117635480	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:117635477_117635479CCTT>C	uc001egy.3	+	17	2950_2952	c.2930_2932CCTT>C	c.(2929-2934)accttc>aCtc	p.F979del	MIR942_uc021osm.1_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	979					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTTAACGGCACCTTCTTCAAGAT	0.483												
ACP6	51205	broad.mit.edu	37	1	147119279	147119279	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:147119278_147119278AT>A	uc001epr.2	-	9	1698	c.1234_1234AT>T	c.(1234-1236)tacfs	p.Y412fs		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	412					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTGCGTGGTATTTTTCTGGG	0.443												
ADAMTSL4	54507	broad.mit.edu	37	1	150530506	150530507	+	Frame_Shift_Ins	INS	-	-	G	rs149280379		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:150530505_150530506T>TG	uc009wlw.3	+	13	2489_2490	c.2331_2332T>TG	c.(2329-2334)tttgggfs	p.F777fs	ADAMTSL4_uc001euw.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc001eux.3_Frame_Shift_Ins_p.F754fs|ADAMTSL4_uc010pcg.2_Frame_Shift_Ins_p.F715fs|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	754	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.F754L(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGAATTTGGGGGGGGTGG	0.693												
SPRR4	163778	broad.mit.edu	37	1	152944454	152944454	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:152944453_152944453AC>A	uc001fav.1	+	1	150	c.87_87AC>A	c.(85-87)ccafs	p.P29fs	SPRR4_uc021ozm.1_Frame_Shift_Del_p.P29fs	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	29	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGTCAGCCACCCCCTGTTA	0.572												
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917509	+	In_Frame_Ins	INS	-	-	GGT	rs143592003		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:154917507_154917508C>CGGT	uc001ffr.3	-	10	2247_2248	c.2188_2189G>ACCG	c.(2188-2190)cgg>ACCGg	p.R730T	PBXIP1_uc001ffs.3_In_Frame_Ins_p.R701T|PBXIP1_uc010pep.2_In_Frame_Ins_p.R575T	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	730					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGTCAGCCCCGGTGGTGGTGG	0.634												
PRCC	5546	broad.mit.edu	37	1	156761536	156761537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:156761535_156761536T>TC	uc001fqa.3	+	3	1420_1421	c.1130_1131T>TC	c.(1129-1131)gtcfs	p.V377fs		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530			T	TFE3	papillary renal							
ETV3L	440695	broad.mit.edu	37	1	157067714	157067714	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:157067713_157067713CG>C	uc001fqq.2	-	3	839	c.554_554CG>G	c.(553-555)cgafs	p.R185fs		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TGGTGGCCCTCGGGGGGTCTG	0.617												
RCSD1	92241	broad.mit.edu	37	1	167654711	167654712	+	Frame_Shift_Ins	INS	-	-	C	rs144007158	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:167654710_167654711T>TC	uc001gem.3	+	2	348_349	c.161_162T>TC	c.(160-162)ttcfs	p.F54fs	RCSD1_uc010pli.2_Intron	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	54										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CTCCCCCTGTTCCCCCCCAAGG	0.554												
NAV1	89796	broad.mit.edu	37	1	201618272	201618273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:201618271_201618272A>AC	uc021phi.1	+	0	822_823	c.475_476A>AC	c.(475-477)accfs	p.T159fs	NAV1_uc001gwu.3_Frame_Shift_Ins_p.T159fs	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	159					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CGGCGCCAAGACCCCCCTGGCT	0.698												
SMYD2	56950	broad.mit.edu	37	1	214488156	214488157	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:214488155_214488156T>TG	uc021pix.1	+	2	321_322	c.288_289T>TG	c.(286-291)tttgggfs	p.F96fs	SMYD2_uc021piw.1_Frame_Shift_Ins_p.F4fs|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	96					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGGTTGTTTTTGGGGAAAACTG	0.396												
KCTD3	51133	broad.mit.edu	37	1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:215793921_215793921TA>T	uc001hks.3	+	17	2703	c.2409_2409TA>T	c.(2407-2409)catfs	p.H803fs	KCTD3_uc001hkt.3_Frame_Shift_Del_p.H801fs|KCTD3_uc010pub.2_Frame_Shift_Del_p.H701fs|KCTD3_uc009xdn.3_Frame_Shift_Del_p.H527fs	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	803				H -> HK (in Ref. 5; CAD38743).		voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTCCTCGGCATAAAAAAAGTG	0.418												
GPATCH2	55105	broad.mit.edu	37	1	217793264	217793265	+	Frame_Shift_Ins	INS	-	-	T	rs3210309		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:217793263_217793264C>CT	uc001hlf.1	-	1	730_731	c.634_635G>AG	c.(634-636)agafs	p.R212fs	GPATCH2_uc001hlg.4_Frame_Shift_Ins_p.R212fs	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	212						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTTCAACTTTCTTTTTTTGACT	0.396												
RBM34	23029	broad.mit.edu	37	1	235323947	235323948	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:235323946_235323947G>GT	uc001hwn.3	-	2	475_476	c.244_245C>AC	c.(244-246)acgfs	p.T82fs	RBM34_uc001hwo.3_Intron|RBM34_uc001hwp.3_Non-coding_Transcript|RBM34_uc010pxp.1_Frame_Shift_Ins_p.T82fs	NM_015014	NP_055829	P42696	RBM34_HUMAN	Homo sapiens RNA binding motif protein 34 (RBM34), transcript variant 1, mRNA.	82						nucleolus	RNA binding|nucleotide binding			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			ATTCCGTTTCGTTTTTTTGATG	0.371												
HNRNPU	3192	broad.mit.edu	37	1	245025801	245025803	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245025800_245025802ATCT>A	uc001iaz.1	-	2	1056_1058	c.838_840AGAT>T	c.(838-840)gat>T	p.D280del	HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_In_Frame_Del_p.D261del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	280	B30.2/SPRY.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGAAGTGTTCATCTTCTTCTTCA	0.394												
KIF26B	55083	broad.mit.edu	37	1	245849908	245849909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr1:245849907_245849908A>AC	uc001ibf.1	+	11	4062_4063	c.3622_3623A>AC	c.(3622-3624)accfs	p.T1208fs	KIF26B_uc001ibg.1_Frame_Shift_Ins_p.T826fs|KIF26B_uc001ibh.1_Frame_Shift_Ins_p.T450fs	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1208					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGCCGCCCCACCAGCATCATC	0.663												
ASAP2	8853	broad.mit.edu	37	2	9528643	9528644	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:9528642_9528643G>GCC	uc002qzh.2	+	21	2690_2691	c.2350_2351G>GCC	c.(2350-2352)gccfs	p.A784fs	ASAP2_uc002qzi.2_Frame_Shift_Ins_p.A784fs	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	784	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CACCACCAGCGCCCCCCCGCTT	0.579												
ATP6V1C2	245973	broad.mit.edu	37	2	10918761	10918761	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:10918760_10918760CA>C	uc002ras.3	+	11	1135	c.1026_1026CA>C	c.(1024-1026)atcfs	p.I342fs	ATP6V1C2_uc002rat.3_Frame_Shift_Del_p.I296fs	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	342					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGATCCACATCAAGGCCCTGA	0.607												
AGBL5	60509	broad.mit.edu	37	2	27278901	27278902	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27278900_27278901T>TC	uc002rie.3	+	6	1476_1477	c.1259_1260T>TC	c.(1258-1260)atcfs	p.I420fs	AGBL5_uc002rid.3_Frame_Shift_Ins_p.I420fs|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	420					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAAG	0.515												
AGBL5	60509	broad.mit.edu	37	2	27292517	27292517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:27292516_27292516AC>A	uc002rie.3	+	13	2648	c.2431_2431AC>A	c.(2431-2433)accfs	p.T811fs	AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	811					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATCCCCTACCCCCCGGAC	0.642												
MSH6	2956	broad.mit.edu	37	2	48023188	48023190	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:48023187_48023189GGAA>G	uc002rwd.4	+	2	764_766	c.612_614GGAA>G	c.(610-615)gaggaa>gaGa	p.204_205EE>E	MSH6_uc002rwc.2_In_Frame_Del_p.204_205EE>E|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	204	Poly-Glu.				DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCCAGAAGAGGAAGAAGAGATG	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
GKN2	200504	broad.mit.edu	37	2	69177322	69177322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:69177321_69177321AT>A	uc002sfa.3	-	2	250	c.141_141AT>T	c.(139-141)aatfs	p.N47fs	GKN2_uc002sfb.4_Frame_Shift_Del_p.N47fs	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	47						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TGATGGCGGTATTTTTTTCAT	0.348												
SEMA4F	10505	broad.mit.edu	37	2	74900583	74900583	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:74900582_74900582AG>A	uc002sna.1	+	6	662	c.551_splice	c.e6-2	p.G184_splice	SEMA4F_uc010ysb.1_Splice_Site_p.G120_splice|SEMA4F_uc021vjn.1_Splice_Site_p.G184_splice|SEMA4F_uc010ffq.1_Splice_Site_p.G151_splice|SEMA4F_uc010ffr.1_Splice_Site|SEMA4F_uc002snb.1_Splice_Site|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	184	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGCCCTGCAGGGGGGGTCC	0.587												
NCAPH	23397	broad.mit.edu	37	2	97025921	97025922	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:97025920_97025921C>CA	uc002svz.1	+	10	1481_1482	c.1397_1398C>CA	c.(1396-1398)acafs	p.T466fs	NCAPH_uc010fhv.1_Frame_Shift_Ins_p.T455fs|NCAPH_uc010yum.1_Frame_Shift_Ins_p.T442fs|NCAPH_uc010yun.1_Frame_Shift_Ins_p.T330fs	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	466					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		p.D469fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AAGAAGAGTACAAAAAAAGATT	0.332												
PDCL3	79031	broad.mit.edu	37	2	101183019	101183019	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:101183018_101183018AC>A	uc002tao.2	+	1	172	c.60_60AC>A	c.(58-60)ttafs	p.L20fs		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	20					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AGGGTATCTTACCCCCCAAGG	0.507												
RABL2A	11159	broad.mit.edu	37	2	114398948	114398948	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:114398947_114398947CA>C	uc002tks.4	+	7	568	c.427_427CA>C	c.(427-429)caafs	p.Q143fs	RABL2A_uc002tkn.4_Frame_Shift_Del_p.Q142fs|RABL2A_uc010flb.3_Frame_Shift_Del_p.Q142fs|RABL2A_uc002tkm.4_Frame_Shift_Del_p.Q79fs|RABL2A_uc002tkr.3_Frame_Shift_Del_p.Q143fs|RABL2A_uc002tkp.4_Frame_Shift_Del_p.Q143fs	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	142					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						AAACGTGACCCAAAAAAGCTT	0.507												
SCN3A	6328	broad.mit.edu	37	2	165950947	165950948	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:165950946_165950947A>AT	uc002ucx.3	-	25	4965_4966	c.4473_4474T>AT	c.(4471-4476)aaatatfs	p.K1491fs	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Frame_Shift_Ins_p.K1442fs|SCN3A_uc002ucz.3_Frame_Shift_Ins_p.K1442fs	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1491						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCATTGTAATATTTTTTCTGTT	0.356												
PHOSPHO2	493911	broad.mit.edu	37	2	170558101	170558102	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:170558100_170558101ACT>A	uc021vsh.1	+	3	937_938	c.619_620ACT>A	c.(619-621)actfs	p.T207fs	PHOSPHO2_uc021vsi.1_Frame_Shift_Del_p.T207fs|PHOSPHO2_uc021vsj.1_Frame_Shift_Del_p.T207fs|PHOSPHO2_uc021vsg.1_Frame_Shift_Del_p.T207fs|PHOSPHO2_uc002ufg.3_Frame_Shift_Del_p.T207fs|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Frame_Shift_Del_p.T207fs	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	207							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						CTTACAGAAAACTCTTTCCAGA	0.347												
NDUFS1	4719	broad.mit.edu	37	2	206991571	206991573	+	Splice_Site	DEL	ACA	ACA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:206991570_206991572TACA>T	uc010ziq.2	-	17	1988	c.1927_splice	c.e17-1	p.I643_splice	NDUFS1_uc002vbe.3_Splice_Site_p.I629_splice|NDUFS1_uc010zir.2_Splice_Site_p.I593_splice|NDUFS1_uc010zis.2_Splice_Site_p.I572_splice|NDUFS1_uc010zit.2_Splice_Site_p.I518_splice|NDUFS1_uc010ziu.2_Splice_Site_p.I513_splice	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	629					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TCCAGCAATCTACAACATGTCAG	0.335												
CRYGD	1421	broad.mit.edu	37	2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGT	0.527												
IKZF2	22807	broad.mit.edu	37	2	213872511	213872512	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:213872510_213872511A>AG	uc002vem.3	-	7	1323_1324	c.1154_1155T>CT	c.(1153-1155)tctfs	p.S385fs	IKZF2_uc010fuu.3_Frame_Shift_Ins_p.S240fs|IKZF2_uc002vej.3_Frame_Shift_Ins_p.S332fs|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Frame_Shift_Ins_p.S311fs|IKZF2_uc002vel.3_Frame_Shift_Ins_p.S306fs|IKZF2_uc010fuw.3_Frame_Shift_Ins_p.S159fs|IKZF2_uc010fux.3_Frame_Shift_Ins_p.S159fs|IKZF2_uc010fuy.3_Frame_Shift_Ins_p.S313fs|IKZF2_uc002ven.3_Frame_Shift_Ins_p.S359fs|IKZF2_uc002vei.3_Frame_Shift_Ins_p.S163fs	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTCTGATGAGAGAGATGGGGCC	0.485												
RHBDD1	84236	broad.mit.edu	37	2	227773542	227773542	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:227773541_227773541GT>G	uc021vxo.1	+	6	1183	c.659_659GT>G	c.(658-660)ggtfs	p.G220fs	RHBDD1_uc002voi.3_Frame_Shift_Del_p.G220fs|RHBDD1_uc010fxc.3_Frame_Shift_Del_p.G220fs|RHBDD1_uc002voj.3_Frame_Shift_Del_p.G51fs	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	220						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CGTTTAGGCGGTTTTTCCTCC	0.328												
DGKD	8527	broad.mit.edu	37	2	234365952	234365952	+	Frame_Shift_Del	DEL	G	G	-	rs35538077		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr2:234365951_234365951TG>T	uc002vui.1	+	20	2569	c.2557_2557TG>T	c.(2557-2559)tggfs	p.W853fs	DGKD_uc002vuj.1_Frame_Shift_Del_p.W809fs|DGKD_uc010fyh.1_Frame_Shift_Del_p.W720fs|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTAC	0.577												
GRM7	2917	broad.mit.edu	37	3	7456819	7456819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:7456818_7456818CA>C	uc003bqm.2	+	4	1416	c.1142_1142CA>C	c.(1141-1143)tcafs	p.S381fs	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bql.2_Frame_Shift_Del_p.S381fs|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	381					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.S381T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATTAGTGGGTCAAAAAAAGAA	0.423												
KCNH8	131096	broad.mit.edu	37	3	19554728	19554728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:19554727_19554727AC>A	uc003cbk.1	+	12	2540	c.2345_2345AC>A	c.(2344-2346)gacfs	p.D782fs	KCNH8_uc010hex.1_Frame_Shift_Del_p.D243fs	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	782						integral to membrane	two-component sensor activity	p.N785fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGGAAATTGACCCCCCCAAC	0.473												
TTC21A	199223	broad.mit.edu	37	3	39177934	39177936	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:39177933_39177935CAAG>C	uc003cjc.2	+	22	3228_3230	c.3051_3053CAAG>C	c.(3049-3054)gccaag>gcCg	p.K1019del	TTC21A_uc011ayx.1_In_Frame_Del_p.K971del|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_In_Frame_Del_p.K140del	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	1019							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTGAATTGGCCAAGAAGGTGTCT	0.438												
ZNF197	10168	broad.mit.edu	37	3	44684836	44684837	+	Frame_Shift_Ins	INS	-	-	T	rs115498440	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:44684835_44684836A>AT	uc003cnm.3	+	5	2419_2420	c.2213_2214A>AT	c.(2212-2214)gatfs	p.D738fs	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	738					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAATGTGAGGATTGTGGGAAGG	0.421												
CCR1	1230	broad.mit.edu	37	3	46245605	46245605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:46245604_46245604GT>G	uc003cph.1	-	1	272	c.201_201AC>C	c.(199-201)aacfs	p.N67fs	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Frame_Shift_Del_p.N67fs	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	67					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TGCTGGTCATGTTTTTTAGCC	0.502												
PXK	54899	broad.mit.edu	37	3	58368271	58368272	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:58368270_58368271C>CA	uc003djz.1	+	3	330_331	c.231_232C>CA	c.(229-234)cccaaafs	p.P77fs	PXK_uc003djx.1_Frame_Shift_Ins_p.P77fs|PXK_uc003dka.1_Frame_Shift_Ins_p.P77fs|PXK_uc003dkb.1_5'UTR|PXK_uc003dkc.1_Frame_Shift_Ins_p.P60fs|PXK_uc011bfe.1_Frame_Shift_Ins_p.P44fs|PXK_uc010hnj.1_Frame_Shift_Ins_p.P44fs|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	77	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTCTTCCTCCCAAAAAATTGAT	0.342												
FILIP1L	11259	broad.mit.edu	37	3	99568273	99568273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:99568272_99568272GT>G	uc003dtm.3	-	4	2711	c.2248_2248AC>C	c.(2248-2250)ctafs	p.L750fs	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Frame_Shift_Del_p.L750fs|FILIP1L_uc010hpf.3_Frame_Shift_Del_p.L326fs|FILIP1L_uc010hpg.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtn.3_Frame_Shift_Del_p.L510fs|FILIP1L_uc021xbr.1_Frame_Shift_Del_p.L510fs|FILIP1L_uc003dtp.1_Frame_Shift_Del_p.L510fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	750						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGC	0.403												
CCDC80	151887	broad.mit.edu	37	3	112357269	112357269	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:112357268_112357268CT>C	uc003dzf.3	-	1	1703	c.1485_1485AG>G	c.(1483-1485)aagfs	p.K495fs	CCDC80_uc011bhv.2_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzg.3_Frame_Shift_Del_p.K495fs|CCDC80_uc003dzh.1_Frame_Shift_Del_p.K495fs	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	495	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCTGGGCCTTCTTTTTGGGAG	0.557												
SLC15A2	6565	broad.mit.edu	37	3	121643201	121643202	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:121643200_121643201G>GT	uc003eep.2	+	11	1158_1159	c.1005_1006G>GT	c.(1003-1008)gggtttfs	p.G335fs	SLC15A2_uc011bjn.1_Frame_Shift_Ins_p.G304fs	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	335					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGTTTCAGGGGTTTTTTGTGCT	0.371												
EEFSEC	60678	broad.mit.edu	37	3	127981010	127981010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:127981009_127981009CG>C	uc003eki.3	+	2	601	c.563_563CG>C	c.(562-564)ccgfs	p.P188fs		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	188						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCGGCCAAGCCGGGGGGACCA	0.547												
MSL2	55167	broad.mit.edu	37	3	135870358	135870358	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:135870357_135870357GT>G	uc003eqx.1	-	1	2099	c.1366_1366AC>C	c.(1366-1368)cccfs	p.P456fs	MSL2_uc011bmb.1_Frame_Shift_Del_p.P382fs|MSL2_uc021xel.1_Frame_Shift_Del_p.P382fs	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	456	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TTTTCCTGGGGTTTTTTGTAC	0.438												
STAG1	10274	broad.mit.edu	37	3	136240212	136240213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:136240211_136240212A>AT	uc003era.1	-	6	811_812	c.519_520T>AT	c.(517-522)aaatttfs	p.K173fs	STAG1_uc003erb.1_Frame_Shift_Ins_p.K173fs|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_Frame_Shift_Ins_p.K36fs|STAG1_uc003ere.3_Frame_Shift_Ins_p.K173fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	173					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTTGAACGAAATTTTTTCCACT	0.347												
PIK3CB	5291	broad.mit.edu	37	3	138413710	138413711	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:138413709_138413710C>CG	uc011bmq.2	-	11	1810_1811	c.1810_1811G>CG	c.(1810-1812)cggfs	p.R604fs	PIK3CB_uc011bmn.2_Frame_Shift_Ins_p.R116fs|PIK3CB_uc011bmo.2_Frame_Shift_Ins_p.R50fs|PIK3CB_uc011bmp.2_Frame_Shift_Ins_p.R191fs	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	604	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAGGGCCTCCCGGGGGGGCAGT	0.465												
WWTR1	25937	broad.mit.edu	37	3	149290774	149290774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:149290773_149290773AT>A	uc003exf.3	-	2	786	c.446_446AT>T	c.(445-447)atcfs	p.I149fs	WWTR1_uc003exe.3_Frame_Shift_Del_p.I149fs|WWTR1_uc021xfm.1_Frame_Shift_Del_p.I149fs|WWTR1_uc003exh.3_Frame_Shift_Del_p.I149fs	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	149	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.I149N(2)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCATGTGGTGATTTTTTCTAT	0.408			T	CAMTA1	epitheliod hemangioendothelioma							
NCEH1	57552	broad.mit.edu	37	3	172365826	172365827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:172365825_172365826C>CT	uc011bpx.2	-	1	451_452	c.313_314G>AG	c.(313-315)agcfs	p.S105fs	NCEH1_uc003fig.3_Frame_Shift_Ins_p.S105fs|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_Intron	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	73					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGACCACGCGCTTTTTTTGCCA	0.505												
ACTL6A	86	broad.mit.edu	37	3	179288016	179288016	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:179288015_179288015TA>T	uc003fjw.3	+	2	436	c.263_263TA>T	c.(262-264)ctafs	p.L88fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.L46fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.L46fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	88					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ATTTCACCTCTAAAAAATGGG	0.398												
DVL3	1857	broad.mit.edu	37	3	183887922	183887922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr3:183887921_183887921AC>A	uc003fms.3	+	13	1766	c.1626_1626AC>A	c.(1624-1626)ccafs	p.P542fs	DVL3_uc011bqw.2_Frame_Shift_Del_p.P525fs|DVL3_uc003fmt.3_Frame_Shift_Del_p.P213fs|DVL3_uc003fmu.3_Frame_Shift_Del_p.P374fs	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	542					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGTACCCGCCACCCCCGCACC	0.692												
FGFR3	2261	broad.mit.edu	37	4	1807545	1807545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:1807544_1807544GC>G	uc003gdr.3	+	12	1969	c.1713_1713GC>G	c.(1711-1713)cggfs	p.R571fs	FGFR3_uc003gdu.2_Frame_Shift_Del_p.R573fs|FGFR3_uc003gds.3_Frame_Shift_Del_p.R459fs|FGFR3_uc003gdq.3_Frame_Shift_Del_p.R572fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	571	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	gggcgcggcggcccccgggcc	0.697		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome			
KIAA0232	9778	broad.mit.edu	37	4	6864456	6864456	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:6864455_6864455CA>C	uc003gjr.4	+	6	2809	c.2346_2346CA>C	c.(2344-2346)ttcfs	p.F782fs	KIAA0232_uc003gjq.4_Frame_Shift_Del_p.F782fs	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	782							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CATTAGTTTTCAAAAAAACAT	0.318												
SLIT2	9353	broad.mit.edu	37	4	20555573	20555573	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:20555572_20555572CA>C	uc003gpr.1	+	25	2910	c.2706_2706CA>C	c.(2704-2706)tccfs	p.S902fs	SLIT2_uc003gps.1_Frame_Shift_Del_p.S894fs	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	902	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAACTCCCTCCAAAAAATTTA	0.358												
DHX15	1665	broad.mit.edu	37	4	24550502	24550503	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:24550501_24550502G>GT	uc003gqx.3	-	5	1392_1393	c.1224_1225C>AC	c.(1222-1227)aaacagfs	p.K408fs		NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	408	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GCTCCATTCTGTTTTTTGGGAG	0.351												
AFF1	4299	broad.mit.edu	37	4	87968676	87968677	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:87968675_87968676G>GA	uc011ccz.2	+	3	1263_1264	c.988_989G>GA	c.(988-990)gaafs	p.E330fs	AFF1_uc011ccx.2_Frame_Shift_Ins_p.E264fs|AFF1_uc003hqh.2_Frame_Shift_Ins_p.E330fs|AFF1_uc011ccy.2_Frame_Shift_Ins_p.E330fs|AFF1_uc003hqj.4_Frame_Shift_Ins_p.E323fs|AFF1_uc003hqk.4_Frame_Shift_Ins_p.E323fs|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	323						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCAGACCTTTGAAAAAACAGAC	0.505												
DNAJB14	79982	broad.mit.edu	37	4	100827771	100827771	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:100827770_100827770TA>T	uc003hvl.3	-	5	789	c.638_splice	c.e5-1	p.G213_splice	DNAJB14_uc003hvk.3_Splice_Site_p.G128_splice|DNAJB14_uc010ili.3_Splice_Site_p.G146_splice	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 14 (DNAJB14), transcript variant 1, mRNA.	213					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		GTACACTACCTAAAAAATTAA	0.299												
COL25A1	84570	broad.mit.edu	37	4	109753592	109753593	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:109753591_109753592T>TA	uc021xqo.1	-	31	1713	c.1657_splice	c.e31-1	p.G553_splice	COL25A1_uc003hze.1_Splice_Site_p.G553_splice|COL25A1_uc021xqp.1_Splice_Site_p.G553_splice|COL25A1_uc003hzg.3_Splice_Site_p.G553_splice|COL25A1_uc003hzd.3_Splice_Site|COL25A1_uc003hzf.3_Splice_Site_p.G350_splice	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	553						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCTGTACCCTAAAAAAAAGAT	0.391												
ALPK1	80216	broad.mit.edu	37	4	113356326	113356326	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:113356325_113356325CA>C	uc003ian.4	+	11	3283	c.3056_3056CA>C	c.(3055-3057)tcafs	p.S1019fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.S1019fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.S941fs|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Frame_Shift_Del_p.S847fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCT	0.353												
TRAM1L1	133022	broad.mit.edu	37	4	118005517	118005517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:118005516_118005516CT>C	uc003ibv.4	-	0	1221	c.1034_1034AG>G	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388												
SYNPO2	171024	broad.mit.edu	37	4	119952894	119952894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:119952893_119952893TC>T	uc010inb.3	+	3	3159	c.2963_2963TC>T	c.(2962-2964)ctcfs	p.L988fs	SYNPO2_uc010ina.3_Frame_Shift_Del_p.L988fs|SYNPO2_uc003icm.4_Frame_Shift_Del_p.L988fs|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Frame_Shift_Del_p.L916fs|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	988						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGGATGGCCTCCCCCAGAAG	0.512												
SPATA5	166378	broad.mit.edu	37	4	123855712	123855712	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:123855711_123855711CT>C	uc003iez.4	+	4	1038	c.965_965CT>C	c.(964-966)actfs	p.T322fs	SPATA5_uc003iey.3_Frame_Shift_Del_p.T321fs	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	322					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AATACTGATACTTTTTATTTT	0.313												
GAB1	2549	broad.mit.edu	37	4	144336783	144336783	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:144336782_144336782CA>C	uc003ijd.3	+	1	584	c.225_225CA>C	c.(223-225)aacfs	p.N75fs	GAB1_uc003ije.3_Frame_Shift_Del_p.N75fs|GAB1_uc011chq.2_5'UTR	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	75	PH.				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TGACATTTAACAAAAAAGAGT	0.338												
DCHS2	54798	broad.mit.edu	37	4	155256133	155256134	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr4:155256132_155256133G>GA	uc003inw.2	-	7	1103_1104	c.1103_1104C>TC	c.(1102-1104)ttcfs	p.F368fs	DCHS2_uc003inx.2_Frame_Shift_Ins_p.F867fs	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	368	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F368L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAGTTGTCTGGAAAATGTGTAT	0.446												
ADAMTS12	81792	broad.mit.edu	37	5	33549373	33549374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:33549372_33549373T>TG	uc003jia.1	-	20	4404_4405	c.4241_4242A>CA	c.(4240-4242)ccafs	p.P1414fs	ADAMTS12_uc010iuq.1_Frame_Shift_Ins_p.P1329fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1414	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1413P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCATGCTCAATGGGGGAGGAAT	0.609										HNSCC(64;0.19)		
C5orf42	65250	broad.mit.edu	37	5	37108533	37108534	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:37108532_37108533G>GT	uc011cpa.1	-	50	9510_9511	c.9279_9280C>AC	c.(9277-9282)aaacatfs	p.K3093fs	C5orf42_uc003jko.1_Frame_Shift_Ins_p.K124fs|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Frame_Shift_Ins_p.K1611fs|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Frame_Shift_Ins_p.K2186fs	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	3093										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACTTCCATGTTTTTTTGTAT	0.431												
SKIV2L2	23517	broad.mit.edu	37	5	54701406	54701415	+	Frame_Shift_Del	DEL	GAGATAAGCA	GAGATAAGCA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:54701405_54701414TGAGATAAGCA>T	uc003jpy.4	+	21	2900_2909	c.2634_2643TGAGATAAGCA>T	c.(2632-2643)tgtgagataagcfs	p.C878fs	SKIV2L2_uc011cqi.2_Frame_Shift_Del_p.C777fs	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	878					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E879*(2)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAGTGGCTTGTGAGATAAGCAGGTAAAATC	0.329												
PPAP2A	8611	broad.mit.edu	37	5	54737726	54737728	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:54737725_54737727TAGA>T	uc003jpz.3	-	3	920_922	c.504_506TCTA>A	c.(502-507)ttctat>ttAt	p.168_169FY>L	PPAP2A_uc003jqa.3_In_Frame_Del_p.167_168FY>L|PPAP2A_uc003jqb.3_Non-coding_Transcript	NM_176895	NP_795714	O14494	LPP1_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2A (PPAP2A), transcript variant 2, mRNA.	167					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GTGGCCTGAATAGAAGGACAACC	0.389												
BDP1	55814	broad.mit.edu	37	5	70782336	70782336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:70782335_70782335AT>A	uc003kbp.1	+	8	1357	c.1094_1094AT>A	c.(1093-1095)gatfs	p.D365fs	BDP1_uc003kbn.1_Frame_Shift_Del_p.D365fs|BDP1_uc003kbo.3_Frame_Shift_Del_p.D365fs	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	365	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D365N(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTGACTTCGATTTTTTTGCT	0.299												
SSBP2	23635	broad.mit.edu	37	5	80769592	80769592	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:80769591_80769591TA>T	uc003khp.3	-	8	711	c.500_splice	c.e8-1	p.G167_splice	SSBP2_uc003khn.3_Splice_Site_p.G41_splice|SSBP2_uc011ctr.2_Splice_Site_p.G137_splice|SSBP2_uc003kho.3_Splice_Site_p.G167_splice|SSBP2_uc011ctp.2_Splice_Site_p.G147_splice|SSBP2_uc011ctq.2_Splice_Site_p.G137_splice	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	167	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTGGATGTCCTAAAAAAAGTA	0.428												
RASA1	5921	broad.mit.edu	37	5	86672789	86672807	+	Frame_Shift_Del	DEL	TTTTTCTTCACGAAAAGCT	TTTTTCTTCACGAAAAGCT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:86672788_86672806ATTTTTCTTCACGAAAAGCT>A	uc003kiw.3	+	16	2474_2492	c.2275_2293ATTTTTCTTCACGAAAAGCT>A	c.(2275-2295)atttttcttcacgaaaagcttfs	p.I759fs	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Frame_Shift_Del_p.I582fs|RASA1_uc011ctv.2_Frame_Shift_Del_p.I592fs|RASA1_uc011ctw.2_Frame_Shift_Del_p.I593fs|RASA1_uc010jaw.3_Frame_Shift_Del_p.I581fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	759	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CCTACTGAGGATTTTTCTTCACGAAAAGCTTGAATCGTT	0.384												
ERAP1	51752	broad.mit.edu	37	5	96112148	96112149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:96112147_96112148C>CA	uc003kmm.3	-	18	3125_3126	c.2778_2779G>TG	c.(2776-2781)tttgatfs	p.F926fs	CAST_uc003kmk.3_Intron|ERAP1_uc003kml.3_Frame_Shift_Ins_p.F926fs|ERAP1_uc010jbm.2_Frame_Shift_Ins_p.F738fs|ERAP1_uc003kmn.3_Frame_Shift_Ins_p.F926fs	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	926					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTGATTTTATCAAAATTCTTAT	0.381												
FER	2241	broad.mit.edu	37	5	108290522	108290522	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:108290521_108290521TA>T	uc003kop.1	+	11	1805	c.1421_1421TA>T	c.(1420-1422)ttafs	p.L474fs	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Frame_Shift_Del_p.L299fs	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	474	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		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)		CAAGAACTGTTAAAAAAACAA	0.403												
CSNK1G3	1456	broad.mit.edu	37	5	122926144	122926145	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:122926143_122926144A>AT	uc003ktm.3	+	8	1600_1601	c.881_882A>AT	c.(880-882)gatfs	p.D294fs	CSNK1G3_uc003ktl.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003ktn.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc003kto.3_Frame_Shift_Ins_p.D294fs|CSNK1G3_uc011cwr.2_Frame_Shift_Ins_p.D219fs|CSNK1G3_uc011cws.2_Frame_Shift_Ins_p.D182fs|CSNK1G3_uc010jda.3_Frame_Shift_Ins_p.D295fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	294	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.D294A(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AGAAGGCTAGATTTTTTTGAAA	0.262												
TCF7	6932	broad.mit.edu	37	5	133473786	133473787	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:133473785_133473786A>ACT	uc003kyt.3	+	3	673_674	c.477_478A>ACT	c.(475-480)caactcfs	p.Q159fs	TCF7_uc003kyv.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyw.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyu.2_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyy.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Frame_Shift_Ins_p.Q44fs|TCF7_uc003kza.3_Frame_Shift_Ins_p.Q44fs	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	159					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGTCCCCCAACTCTCTCTCTA	0.594												
CDC25C	995	broad.mit.edu	37	5	137627690	137627690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137627689_137627689CT>C	uc003lcs.1	-	7	1166	c.966_966AG>G	c.(964-966)aagfs	p.K322fs	CDC25C_uc003lcp.1_Frame_Shift_Del_p.K244fs|CDC25C_uc003lcq.1_Frame_Shift_Del_p.K171fs|CDC25C_uc003lcr.1_Frame_Shift_Del_p.K244fs|CDC25C_uc011cyp.1_Frame_Shift_Del_p.K261fs	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	244	Rhodanese.				DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGAAAAATACTTTTTTTTAA	0.383												
KDM3B	51780	broad.mit.edu	37	5	137756625	137756625	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137756624_137756624TC>T	uc003lcy.1	+	14	4145	c.3945_3945TC>T	c.(3943-3945)tttfs	p.F1315fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.F971fs|KDM3B_uc011cys.1_Frame_Shift_Del_p.F347fs	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1315					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCATACCCTTTCCCCCGGTCT	0.507												
EGR1	1958	broad.mit.edu	37	5	137803449	137803450	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:137803448_137803449CCT>C	uc003ldb.1	+	1	1580_1581	c.1310_1311CCT>C	c.(1309-1311)tccfs	p.S437fs		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	437					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCGGccacctcctctctctctt	0.564												
MATR3	9782	broad.mit.edu	37	5	138658363	138658364	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:138658362_138658363TGA>T	uc003ldw.3	+	12	2257_2258	c.1854_1855TGA>T	c.(1852-1857)actgagfs	p.T618fs	MATR3_uc003ldt.3_Frame_Shift_Del_p.T280fs|MATR3_uc003ldu.3_Frame_Shift_Del_p.T618fs|MATR3_uc010jfb.3_Frame_Shift_Del_p.T618fs|MATR3_uc003ldx.3_Frame_Shift_Del_p.T618fs|MATR3_uc003ldy.3_Frame_Shift_Del_p.T295fs|MATR3_uc003ldz.3_Frame_Shift_Del_p.T618fs|MATR3_uc011czb.2_Frame_Shift_Del_p.T330fs|MATR3_uc003leb.3_Frame_Shift_Del_p.T280fs|MATR3_uc003lec.3_Frame_Shift_Del_p.T295fs	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	618						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCAGAAGACTGAGAGTTCAAC	0.416												
PCDHAC2	56134	broad.mit.edu	37	5	140176740	140176741	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140176739_140176740TGC>T	uc003lhd.2	+	0	2296_2297	c.2190_2191TGC>T	c.(2188-2193)ggtgcgfs	p.G730fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Frame_Shift_Del_p.G730fs|PCDHAC2_uc011czy.2_Frame_Shift_Del_p.G730fs	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGAGGGTGCGCGCGCGCC	0.673												
PCDHAC2	56134	broad.mit.edu	37	5	140176838	140176838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140176837_140176837AC>A	uc003lhd.2	+	0	2394	c.2288_2288AC>A	c.(2287-2289)gacfs	p.D763fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Frame_Shift_Del_p.D763fs|PCDHAC2_uc011czy.2_Frame_Shift_Del_p.D763fs	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	800					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGGAGGACCCCCCCAAG	0.617												
PCDHB6	56130	broad.mit.edu	37	5	140530600	140530600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:140530599_140530599AC>A	uc003lir.3	+	0	761	c.761_761AC>A	c.(760-762)aacfs	p.N254fs		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	254	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGAGAACAACCCCCTCGGC	0.512												
PCDH1	5097	broad.mit.edu	37	5	141244531	141244533	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:141244530_141244532ACTT>A	uc003llp.3	-	2	1481_1483	c.1364_1366AAGT>T	c.(1363-1368)aagtat>aTat	p.455_456KY>I	PCDH1_uc011dbf.2_In_Frame_Del_p.433_434KY>I|PCDH1_uc003llq.3_In_Frame_Del_p.455_456KY>I	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	455	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCAGGAAATACTTCTTCTTGCT	0.562												
GPRIN1	114787	broad.mit.edu	37	5	176026777	176026777	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr5:176026776_176026776TG>T	uc003meo.1	-	1	235	c.60_60CA>A	c.(58-60)ccafs	p.P20fs	GPRIN1_uc021yif.1_Frame_Shift_Del_p.P20fs	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	20						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCGGGGTCCTGGGGGGCTGG	0.637												
JARID2	3720	broad.mit.edu	37	6	15496636	15496636	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:15496635_15496635CG>C	uc003nbj.3	+	6	1423	c.1179_1179CG>C	c.(1177-1179)ctcfs	p.L393fs	JARID2_uc011diu.1_Frame_Shift_Del_p.L257fs|JARID2_uc011div.2_Frame_Shift_Del_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Del_p.L355fs	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGT	0.577												
C6orf62	81688	broad.mit.edu	37	6	24706480	24706480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:24706479_24706479GT>G	uc003nel.3	-	4	1083	c.576_576AC>C	c.(574-576)aacfs	p.N192fs		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	192						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTGTAGCTTTGTTTTTTGGAG	0.408												
NKAPL	222698	broad.mit.edu	37	6	28227708	28227708	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:28227707_28227707GA>G	uc003nkt.3	+	0	610	c.558_558GA>G	c.(556-558)aagfs	p.K186fs	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	186	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CAAGAAACAAGAAAAAAAGAA	0.373												
HLA-C	3107	broad.mit.edu	37	6	31323232	31323233	+	Frame_Shift_Del	DEL	CA	CA	-	rs148667827		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31323231_31323232TCA>T	uc003nth.2	-	3	811_812	c.757_758TGA>A	c.(757-759)gagfs	p.E253fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Frame_Shift_Del_p.E132fs|HLA-C_uc003nti.1_Non-coding_Transcript|HLA-C_uc010jsn.1_Non-coding_Transcript	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	253	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTCCACAAGCTCAGTGTCCTGA	0.579												
RDBP	7936	broad.mit.edu	37	6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-	rs146039608		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:31926205_31926205CG>C	uc003nyk.3	-	1	223	c.19_19CG>G	c.(19-21)ggafs	p.G7fs	RDBP_uc011dot.2_Frame_Shift_Del_p.G7fs|RDBP_uc021yvb.1_Frame_Shift_Del_p.G7fs|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'Flank|SKIV2L_uc011dou.1_5'Flank|SKIV2L_uc011dov.1_5'Flank	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	7					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCGCTCAGTCCGGGGGGTATC	0.542												
NOTCH4	4855	broad.mit.edu	37	6	32188295	32188296	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:32188294_32188295G>GC	uc003obb.3	-	5	1185_1186	c.1046_1047C>GC	c.(1045-1047)ggcfs	p.G349fs	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Frame_Shift_Ins_p.G349fs	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	349	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACAGCTTGTGCCGCCCCAGCC	0.614												
RGL2	5863	broad.mit.edu	37	6	33263965	33263966	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	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												
LRFN2	57497	broad.mit.edu	37	6	40399677	40399678	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:40399676_40399677T>TG	uc003oph.1	-	1	1641_1642	c.1176_1177A>CA	c.(1174-1179)cccaagfs	p.P392fs		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	392						cell junction|integral to membrane|postsynaptic membrane		p.K393fs*39(2)|p.P392P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGCGGGACTTGGGGGGTGCAG	0.668												
KIAA0240	23506	broad.mit.edu	37	6	42832627	42832627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:42832626_42832626TA>T	uc003osn.1	+	12	2833	c.2682_2682TA>T	c.(2680-2682)tctfs	p.S894fs	KIAA0240_uc011duw.1_Frame_Shift_Del_p.S894fs|KIAA0240_uc003osp.1_Frame_Shift_Del_p.S894fs	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	894										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GAAACATTTCTAAAAAAACAG	0.493												
ELOVL4	6785	broad.mit.edu	37	6	80629257	80629257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:80629256_80629256CA>C	uc003pja.4	-	4	869	c.550_550TG>G	c.(550-552)ggafs	p.G184fs	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	184					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AACTGGGCTCCAAAAAATGCT	0.328												
IBTK	25998	broad.mit.edu	37	6	82930339	82930339	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:82930338_82930338AT>A	uc003pjl.1	-	8	1744	c.1217_1217AT>T	c.(1216-1218)attfs	p.I406fs	IBTK_uc011dyv.1_Frame_Shift_Del_p.I406fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.I406fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.I100fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.I406fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	406					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAGAATGCAAATTTTTTGACC	0.383												
AKD1	221264	broad.mit.edu	37	6	109850222	109850222	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:109850221_109850221CT>C	uc003ptn.2	-	28	3703	c.3626_3626AG>G	c.(3625-3627)aggfs	p.R1209fs	AKD1_uc011eat.1_Frame_Shift_Del_p.R288fs	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1209					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTCCCTCCTTTTTTTATC	0.378												
RNF146	81847	broad.mit.edu	37	6	127608556	127608558	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:127608555_127608557GAGA>G	uc021zes.1	+	2	933_935	c.797_799GAGA>G	c.(796-801)ggagaa>gGaa	p.E268del	RNF146_uc021zet.1_In_Frame_Del_p.E267del|RNF146_uc021zeu.1_In_Frame_Del_p.E267del|RNF146_uc021zev.1_In_Frame_Del_p.E267del|RNF146_uc021zew.1_In_Frame_Del_p.E268del|RNF146_uc003qat.3_In_Frame_Del_p.E267del|RNF146_uc021zex.1_In_Frame_Del_p.E267del|RNF146_uc003qaw.3_In_Frame_Del_p.E267del|RNF146_uc003qau.3_In_Frame_Del_p.E267del|RNF146_uc003qav.3_In_Frame_Del_p.E268del|RNF146_uc021zey.1_In_Frame_Del_p.E267del	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	268					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AGGGGAGAAGGAGAAGAAGATCA	0.468												
PHACTR2	9749	broad.mit.edu	37	6	144081696	144081697	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:144081695_144081696T>TA	uc010khi.3	+	4	811_812	c.612_613T>TA	c.(610-615)attaaafs	p.I204fs	PHACTR2_uc003qjq.4_Frame_Shift_Ins_p.I193fs|PHACTR2_uc010khh.3_Intron|PHACTR2_uc003qjr.4_Intron	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	193							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGCCTCCCATTAAAAAAAATAC	0.569												
SHPRH	257218	broad.mit.edu	37	6	146266724	146266724	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:146266723_146266723CT>C	uc003qlf.3	-	7	1771	c.1372_1372AG>G	c.(1372-1374)ggafs	p.G458fs	SHPRH_uc003qle.3_Frame_Shift_Del_p.G458fs|SHPRH_uc003qlg.1_Frame_Shift_Del_p.G14fs|SHPRH_uc003qlj.1_Frame_Shift_Del_p.G347fs	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	458	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.G458V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATGGACACTCCTTTTTTTCCA	0.328												
AKAP12	9590	broad.mit.edu	37	6	151673000	151673001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:151672999_151673000T>TC	uc011eep.2	+	3	3713_3714	c.3473_3474T>TC	c.(3472-3474)atcfs	p.I1158fs	AKAP12_uc003qoe.3_Frame_Shift_Ins_p.I1158fs|AKAP12_uc003qof.3_Frame_Shift_Ins_p.I1060fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Ins_p.I1053fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1158					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	p.P1160fs*18(1)		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)		GAACAGGCTATCCCCCCTGACT	0.530												
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	DEL	T	T	-	rs35128811		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:152539539_152539539CT>C	uc021zhb.1	-	119	22268	c.22045_splice	c.e119-1	p.A7349_splice	SYNE1_uc003qos.4_Splice_Site_p.A1873_splice|SYNE1_uc003qot.4_Splice_Site_p.A7278_splice|SYNE1_uc003qou.4_Splice_Site_p.A7349_splice|SYNE1_uc003qor.4_Splice_Site_p.A249_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7349					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAACTCCAGCCTTTTTTTCCA	0.343										HNSCC(10;0.0054)		
IGF2R	3482	broad.mit.edu	37	6	160485488	160485489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:160485487_160485488C>CG	uc003qta.3	+	27	4089_4090	c.3941_3942C>CG	c.(3940-3942)acgfs	p.T1314fs		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1314					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGAACTTCACGGGGGGGGACA	0.505												
LPA	4018	broad.mit.edu	37	6	160968822	160968823	+	Splice_Site	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr6:160968821_160968822A>AT	uc003qtl.3	-	33	5424	c.5304_splice	c.e33+1	p.N1768_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4276	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGGCTTACATTTTTTTCCAG	0.470												
C7orf50	84310	broad.mit.edu	37	7	1037311	1037311	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:1037310_1037310AG>A	uc003sju.2	-	4	606	c.536_536CT>T	c.(535-537)ctgfs	p.L179fs	C7orf50_uc011jvt.1_Frame_Shift_Del_p.L179fs|C7orf50_uc011jvu.1_Frame_Shift_Del_p.L179fs	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	179							protein binding	p.L179fs*>17(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCTCCCCGGCAGGGGGGGATC	0.721												
CARD11	84433	broad.mit.edu	37	7	2977652	2977654	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:2977651_2977653CCTT>C	uc003smv.3	-	7	1365_1367	c.1031_1033AAGG>G	c.(1030-1035)aaggag>aGag	p.344_345KE>R		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	344					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCAGGTCCTCCTTCTCCTCCAG	0.547			Mis		DLBCL							
ZDHHC4	55146	broad.mit.edu	37	7	6624647	6624648	+	Splice_Site	DEL	GT	GT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:6624646_6624647GGT>G	uc003sqi.3	+	8	855	c.497_splice	c.e8-1	p.S166_splice	ZDHHC4_uc003sql.3_Splice_Site_p.S166_splice|ZDHHC4_uc003sqj.3_Splice_Site_p.S166_splice|ZDHHC4_uc003sqh.3_Splice_Site_p.S166_splice	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	166						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TTTCTGTGCAGGTGTGTGTAAC	0.520												
ARPP21	10777	broad.mit.edu	37	7	38313227	38313227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:38313226_38313226AT>A	uc003tge.1	-	3	766	c.389_389AT>T	c.(388-390)atcfs	p.I130fs	ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_5'UTR|ARPP21_uc003tgc.1_5'UTR|ARPP21_uc003tgd.1_Intron|ARPP21_uc010kxi.1_Intron|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAATACCTTGATTTTTTTGCC	0.393												
CCT6A	908	broad.mit.edu	37	7	56126071	56126072	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:56126070_56126071C>CT	uc003trl.1	+	6	905_906	c.741_742C>CT	c.(739-744)ggctttfs	p.G247fs	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Frame_Shift_Ins_p.G202fs|CCT6A_uc011kcu.1_Frame_Shift_Ins_p.G216fs|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	247					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	p.Y250fs*11(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAATTCTGGCTTTTTTTACAA	0.317												
PCLO	27445	broad.mit.edu	37	7	82585022	82585023	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:82585021_82585022C>CT	uc003uhx.2	-	4	5536_5537	c.5247_5248G>AG	c.(5245-5250)aaaggafs	p.K1749fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K1749fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1680					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1750E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTCTCTCCTTTTTTGTGAC	0.475												
PCLO	27445	broad.mit.edu	37	7	82585204	82585205	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:82585203_82585204G>GT	uc003uhx.2	-	4	5354_5355	c.5065_5066C>AC	c.(5065-5067)acafs	p.T1689fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.T1689fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1620					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1689K(3)|p.T1689fs*6(1)|p.T1620fs*6(1)|p.T1620K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATACAAACTTGTTTTTTTCTGT	0.426												
COL1A2	1278	broad.mit.edu	37	7	94050333	94050333	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:94050332_94050332TC>T	uc003ung.1	+	37	2778	c.2307_2307TC>T	c.(2305-2307)ggtfs	p.G769fs	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	769			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCAAATGGTCCCCCCGGTC	0.453										HNSCC(75;0.22)		
COL1A2	1278	broad.mit.edu	37	7	94050368	94050368	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:94050367_94050367GC>G	uc003ung.1	+	37	2813	c.2342_2342GC>G	c.(2341-2343)ggcfs	p.G781fs	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	781			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G781C(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGATGGAGGCCCCCCTGTG	0.418										HNSCC(75;0.22)		
ZAN	7455	broad.mit.edu	37	7	100334234	100334234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100334233_100334233CG>C	uc003uwj.3	+	3	399	c.234_234CG>C	c.(232-234)cccfs	p.P78fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.P78fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	78	MAM 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGGGGCCCCCGGGGGGTACC	0.652												
ACHE	43	broad.mit.edu	37	7	100491206	100491208	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:100491205_100491207TCTC>T	uc003uxd.3	-	0	803_805	c.647_649GAGA>A	c.(646-651)gagaac>gAac	p.N217del	ACHE_uc003uxe.3_In_Frame_Del_p.N217del|ACHE_uc003uxf.3_In_Frame_Del_p.N217del|ACHE_uc003uxg.3_In_Frame_Del_p.N217del|ACHE_uc003uxh.3_In_Frame_Del_p.N217del|ACHE_uc003uxi.3_In_Frame_Del_p.N217del|ACHE_uc003uxj.1_In_Frame_Del_p.N336del	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	217					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GCTGCCACGTTCTCCTGCACCCA	0.704												
PUS7	54517	broad.mit.edu	37	7	105148864	105148864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:105148863_105148863GT>G	uc010lji.3	-	0	105	c.97_97AC>C	c.(97-99)cagfs	p.Q33fs	PUS7_uc003vcx.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcy.3_Frame_Shift_Del_p.Q33fs|PUS7_uc003vcz.1_Frame_Shift_Del_p.Q33fs	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	33					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GACAGCTTCTGTTTTTTTGTC	0.483												
ATG9B	285973	broad.mit.edu	37	7	150714250	150714250	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150714249_150714249TG>T	uc011kvc.2	-	8	2239	c.2163_2163CA>A	c.(2161-2163)ccafs	p.P721fs	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	721					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGTGCCCTGGGGGGCGCC	0.662												
CHPF2	54480	broad.mit.edu	37	7	150935383	150935384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr7:150935382_150935383A>AC	uc003wjr.1	+	3	3447_3448	c.1934_1935A>AC	c.(1933-1935)gacfs	p.D645fs	CHPF2_uc003wjq.1_Frame_Shift_Ins_p.D637fs|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	645	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GCTGGCCCTGACCCCCCCTCCC	0.649												
TRPA1	8989	broad.mit.edu	37	8	72948624	72948624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:72948623_72948623CA>C	uc003xza.3	-	20	2630	c.2455_2455TG>G	c.(2455-2457)gtgfs	p.V819fs	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	819						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAGGGCAGCACAAAAATGATG	0.348												
TRPA1	8989	broad.mit.edu	37	8	72968076	72968077	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:72968075_72968076CTT>C	uc003xza.3	-	10	1384_1385	c.1209_1210AAG>G	c.(1207-1212)aaagagfs	p.K403fs	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	403						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTACCAGCTCTTTGATCTGTT	0.351												
NBN	4683	broad.mit.edu	37	8	90965666	90965666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:90965665_90965665CT>C	uc003yej.1	-	10	1762	c.1652_1652AG>G	c.(1651-1653)aggfs	p.R551fs	NBN_uc011lgb.1_Frame_Shift_Del_p.R551fs|NBN_uc003yei.1_Frame_Shift_Del_p.R469fs	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	551					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCCATTTCCCTTTTTTTATT	0.323								Homologous recombination				
TP53INP1	94241	broad.mit.edu	37	8	95952277	95952278	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:95952276_95952277G>GCT	uc003yhg.3	-	2	668_669	c.284_285C>AGC	c.(283-285)agcfs	p.S95fs	TP53INP1_uc003yhh.3_Frame_Shift_Ins_p.S95fs	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	95					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGATAAACCAGCTCTCCTCCAT	0.465												
SYBU	55638	broad.mit.edu	37	8	110598314	110598315	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:110598313_110598314C>CT	uc010mcp.3	-	4	867_868	c.505_506G>AG	c.(505-507)agcfs	p.S169fs	SYBU_uc003yni.4_Frame_Shift_Ins_p.S166fs|SYBU_uc003ynk.4_Frame_Shift_Ins_p.S50fs|SYBU_uc003ynj.4_Frame_Shift_Ins_p.S169fs|SYBU_uc010mco.3_Frame_Shift_Ins_p.S168fs|SYBU_uc003ynl.4_Frame_Shift_Ins_p.S168fs|SYBU_uc010mcq.3_Frame_Shift_Ins_p.S169fs|SYBU_uc003yno.4_Frame_Shift_Ins_p.S50fs|SYBU_uc010mcr.3_Frame_Shift_Ins_p.S169fs|SYBU_uc003ynm.4_Frame_Shift_Ins_p.S168fs|SYBU_uc003ynn.4_Frame_Shift_Ins_p.S168fs|SYBU_uc010mcs.3_Frame_Shift_Ins_p.S50fs|SYBU_uc010mct.3_Frame_Shift_Ins_p.S169fs|SYBU_uc010mcu.3_Frame_Shift_Ins_p.S168fs|SYBU_uc003ynp.4_Frame_Shift_Ins_p.S101fs|SYBU_uc010mcv.3_Frame_Shift_Ins_p.S169fs|SYBU_uc011lhw.2_Frame_Shift_Ins_p.S39fs	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	169	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGACCGCTTGCTTCCCGCAGTC	0.515												
COLEC10	10584	broad.mit.edu	37	8	120114626	120114626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:120114625_120114625GA>G	uc003yoo.3	+	3	428	c.331_331GA>G	c.(331-333)gaafs	p.E111fs		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	111	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AATACCTGGAGAAAAAGGCAA	0.284												
OPLAH	26873	broad.mit.edu	37	8	145109481	145109481	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr8:145109480_145109480GC>G	uc003zar.3	-	18	2752	c.2670_2670GC>C	c.(2668-2670)ggcfs	p.G890fs	OPLAH_uc003zas.1_Frame_Shift_Del_p.R165fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	890							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCTGGAAGACGCCCCCCTGGA	0.647												
CNTLN	54875	broad.mit.edu	37	9	17484353	17484353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:17484352_17484352TA>T	uc003zmz.2	+	23	3938	c.3912_3912TA>T	c.(3910-3912)cttfs	p.L1304fs	CNTLN_uc003zmy.3_Frame_Shift_Del_p.L1305fs|CNTLN_uc010mio.3_Frame_Shift_Del_p.L984fs	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1305						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAGAGAGCTTAAAAAAATGA	0.398												
PLIN2	123	broad.mit.edu	37	9	19119689	19119690	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:19119688_19119689C>CT	uc003zno.3	-	5	946_947	c.736_737G>AG	c.(736-738)agcfs	p.S246fs	PLIN2_uc011lna.2_Frame_Shift_Ins_p.S218fs|PLIN2_uc011lnb.2_Frame_Shift_Ins_p.K202fs	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	246					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						GGTCTGTTGGCTTTTTTGCTTA	0.446												
APBA1	320	broad.mit.edu	37	9	72071204	72071204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:72071203_72071203CT>C	uc004ahh.2	-	7	2024	c.1748_1748AG>G	c.(1747-1749)aggfs	p.R583fs		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	583	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTTGTACTGCCTTTTCCCATC	0.542												
TRPM3	80036	broad.mit.edu	37	9	73225584	73225584	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:73225583_73225583AG>A	uc004aid.3	-	17	2817	c.2573_2573CT>T	c.(2572-2574)ctcfs	p.L858fs	TRPM3_uc004ahu.3_Frame_Shift_Del_p.L688fs|TRPM3_uc004ahv.3_Frame_Shift_Del_p.L660fs|TRPM3_uc004ahw.3_Frame_Shift_Del_p.L730fs|TRPM3_uc004ahx.3_Frame_Shift_Del_p.L717fs|TRPM3_uc004ahy.3_Frame_Shift_Del_p.L720fs|TRPM3_uc004ahz.3_Frame_Shift_Del_p.L707fs|TRPM3_uc004aia.3_Frame_Shift_Del_p.L705fs|TRPM3_uc004aib.3_Frame_Shift_Del_p.L695fs|TRPM3_uc004aic.3_Frame_Shift_Del_p.L858fs	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	883						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTTCTGCCGAGGGGGATTAA	0.468												
PTPN3	5774	broad.mit.edu	37	9	112185106	112185106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:112185105_112185105CT>C	uc004bed.2	-	12	1141	c.1029_1029AG>G	c.(1027-1029)aagfs	p.K343fs	PTPN3_uc004beb.2_Frame_Shift_Del_p.K212fs|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Frame_Shift_Del_p.K56fs|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	343					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CGCCAATCACCTTTTTGCAAT	0.458												
POLE3	54107	broad.mit.edu	37	9	116171910	116171911	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:116171909_116171910T>TG	uc011lxg.1	-	2	633_634	c.251_252A>CA	c.(250-252)ccafs	p.P84fs	POLE3_uc004bhn.2_Frame_Shift_Ins_p.P84fs|C9orf43_uc004bho.4_5'Flank|C9orf43_uc004bhp.3_5'Flank	NM_017443	NP_059139	Q9NRF9	DPOE3_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 3 (p17 subunit) (POLE3), mRNA.	84					DNA replication|histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding			large_intestine(2)|lung(1)	3						CTTCTTTCAATGGGGTAACGAA	0.495												
RABGAP1	23637	broad.mit.edu	37	9	125861042	125861042	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:125861041_125861041TA>T	uc011lzh.2	+	22	2915	c.2781_2781TA>T	c.(2779-2781)attfs	p.I927fs	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Frame_Shift_Del_p.I266fs	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	927					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATCTGAGATTAAAAAAAACA	0.398												
ODF2	4957	broad.mit.edu	37	9	131222859	131222859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131222858_131222858TC>T	uc004bvc.3	+	2	371	c.285_285TC>T	c.(283-285)actfs	p.T95fs	ODF2_uc011maz.2_Intron|ODF2_uc011mba.2_Non-coding_Transcript|ODF2_uc010myb.3_Frame_Shift_Del_p.T7fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.T7fs|ODF2_uc022boj.1_Intron|ODF2_uc004bva.3_Intron|ODF2_uc004bvb.3_Frame_Shift_Del_p.T7fs|ODF2_uc011mbd.2_Intron|ODF2_uc011mbe.2_Frame_Shift_Del_p.T7fs|ODF2_uc010myc.3_Intron|ODF2_uc011mbf.2_Intron|ODF2_uc004bvd.4_Intron|ODF2_uc004bve.3_Intron	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	41					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCTCTTCAACTCCCCCCTTAC	0.517												
C9orf114	51490	broad.mit.edu	37	9	131587086	131587087	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:131587085_131587086TAG>T	uc004bwd.3	-	8	816_817	c.775_776CTA>A	c.(775-777)tacfs	p.Y259fs		NM_016390	NP_057474	Q5T280	CI114_HUMAN	Homo sapiens chromosome 9 open reading frame 114 (C9orf114), mRNA.	259										kidney(2)|large_intestine(4)|ovary(1)	7						GTAGCCCCAGTAGAGACCAGCT	0.564												
NUP214	8021	broad.mit.edu	37	9	134003063	134003065	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:134003062_134003064ATCT>A	uc004cag.3	+	1	308_310	c.197_199ATCT>A	c.(196-201)aatctt>aAtt	p.L68del	NUP214_uc004cah.3_In_Frame_Del_p.L68del|NUP214_uc004caf.1_In_Frame_Del_p.L68del	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	68					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.L68F(1)|p.N66S(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCTACTAAAAATCTTCTTATTCA	0.443			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
PNPLA7	375775	broad.mit.edu	37	9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr9:140356678_140356678TG>T	uc010ncj.1	-	30	3935	c.3598_3598CA>A	c.(3598-3600)atcfs	p.I1200fs	PNPLA7_uc004cnd.1_Frame_Shift_Del_p.I422fs|PNPLA7_uc004cne.1_Frame_Shift_Del_p.I441fs|PNPLA7_uc011mfa.1_Frame_Shift_Del_p.I583fs|PNPLA7_uc004cnf.2_Frame_Shift_Del_p.I1175fs|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1175					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TAGCTGTCGATGGGGGGGCGC	0.652												
GATA3	2625	broad.mit.edu	37	10	8100746	8100746	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:8100745_8100745TG>T	uc001ijz.3	+	2	1276	c.719_719TG>T	c.(718-720)ctgfs	p.L240fs	GATA3_uc001ika.3_Frame_Shift_Del_p.L240fs	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	240					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCAGCCTGCTGGGCGGCTCC	0.687			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""					
FRMD4A	55691	broad.mit.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:13696451_13696451TG>T	uc001ims.3	-	22	3367	c.3015_3015CA>A	c.(3013-3015)ccafs	p.P1005fs	PRPF18_uc001imq.3_Intron|FRMD4A_uc009xjf.1_Frame_Shift_Del_p.P1005fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGG	0.532												
PTPLA	9200	broad.mit.edu	37	10	17636370	17636371	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:17636369_17636370T>TA	uc001ipg.3	-	5	653_654	c.618_619A>TA	c.(616-621)tttatcfs	p.F206fs		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	Homo sapiens protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A (PTPLA), mRNA.	206					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						TATAAGATGATAAAAAAATTAT	0.312												
ENKUR	219670	broad.mit.edu	37	10	25284792	25284792	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:25284791_25284791GT>G	uc001isg.1	-	2	396	c.231_231AC>C	c.(229-231)aacfs	p.N77fs	ENKUR_uc001ish.1_Frame_Shift_Del_p.N15fs	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	77						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TCCGATCAAAGTTTTTTTCTG	0.323												
ZNF37A	7587	broad.mit.edu	37	10	38406962	38406962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:38406961_38406961AG>A	uc001izk.3	+	7	1712	c.882_882AG>A	c.(880-882)acafs	p.T294fs	ZNF37A_uc001izl.3_Frame_Shift_Del_p.T294fs|ZNF37A_uc001izm.3_Frame_Shift_Del_p.T294fs	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	294						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T294fs*6(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACACACACAGGGGGAAAAC	0.408												
C10orf128	170371	broad.mit.edu	37	10	50374922	50374922	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:50374921_50374921GC>G	uc010qgo.2	-	2	257	c.231_231GC>C	c.(229-231)ggcfs	p.G77fs	C10orf128_uc001jhl.4_Non-coding_Transcript|C10orf128_uc001jhn.4_Frame_Shift_Del_p.G77fs|C10orf128_uc001jho.4_Frame_Shift_Del_p.G77fs			Q5T292	CJ128_HUMAN	Homo sapiens chromosome 10 open reading frame 128 (C10orf128), mRNA.	77						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3						CACCACTGAGGCCCCCAGGCG	0.602												
REEP3	221035	broad.mit.edu	37	10	65354563	65354563	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:65354562_65354562GT>G	uc001jmt.3	+	2	313	c.130_130GT>G	c.(130-132)gttfs	p.V44fs	REEP3_uc009xpl.2_Frame_Shift_Del_p.V44fs	NM_001001330	NP_001001330	Q6NUK4	REEP3_HUMAN	Homo sapiens receptor accessory protein 3 (REEP3), mRNA.	44						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTACTGGATTGTTTTTGCTCT	0.348												
TNKS2	80351	broad.mit.edu	37	10	93610998	93610999	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:93610997_93610998A>AT	uc001khp.3	+	20	3016_3017	c.2719_2720A>AT	c.(2719-2721)atgfs	p.M907fs		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	907	SAM.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATTAGTTGAGATGGGGCACAAG	0.371												
IDE	3416	broad.mit.edu	37	10	94294479	94294480	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:94294478_94294479C>CA	uc001kia.3	-	2	423_424	c.347_348G>TG	c.(346-348)ttgfs	p.L116fs		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	116					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTGTTCCCAAAAAAAGCAT	0.361												
MYOF	26509	broad.mit.edu	37	10	95168550	95168550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:95168549_95168549CA>C	uc001kin.3	-	6	847	c.724_724TG>G	c.(724-726)gatfs	p.D242fs	MYOF_uc001kio.3_Frame_Shift_Del_p.D242fs|MYOF_uc001kip.4_Frame_Shift_Del_p.D242fs|MYOF_uc009xuf.2_Frame_Shift_Del_p.D224fs	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	242	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTACCTCATCAAAAAAAGGG	0.498												
SEC31B	25956	broad.mit.edu	37	10	102265255	102265255	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102265254_102265254TG>T	uc001krc.1	-	10	1147	c.1045_splice	c.e10-1	p.I349_splice	SEC31B_uc010qpo.1_Splice_Site_p.I348_splice|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_Splice_Site|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	349					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAA	0.532												
PAX2	5076	broad.mit.edu	37	10	102587324	102587324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:102587323_102587323GC>G	uc001krk.4	+	10	1732	c.1182_1182GC>G	c.(1180-1182)ccgfs	p.P394fs	PAX2_uc001krm.4_Frame_Shift_Del_p.A401fs|PAX2_uc001krn.4_Frame_Shift_Del_p.P371fs|PAX2_uc001kro.4_Frame_Shift_Del_p.A378fs|PAX2_uc010qps.2_Frame_Shift_Del_p.A377fs|PAX2_uc001krl.4_3'UTR	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	394					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TTATAGTGCCGCCCCCCGGGG	0.572												
CNNM2	54805	broad.mit.edu	37	10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:104679762_104679762AC>A	uc001kwm.3	+	0	1688	c.1525_1525AC>A	c.(1525-1527)accfs	p.T509fs	CNNM2_uc001kwn.3_Frame_Shift_Del_p.T509fs|CNNM2_uc001kwl.3_Frame_Shift_Del_p.T509fs	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	509	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGATGACTGTACCCCCCTGAA	0.488												
TACC2	10579	broad.mit.edu	37	10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:123970379_123970379AC>A	uc001lfv.3	+	8	6799	c.6439_6439AC>A	c.(6439-6441)accfs	p.T2147fs	TACC2_uc001lfw.3_Frame_Shift_Del_p.T293fs|TACC2_uc009xzx.3_Frame_Shift_Del_p.T2102fs|TACC2_uc010qtv.2_Frame_Shift_Del_p.T2151fs|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lga.3_Frame_Shift_Del_p.T225fs|TACC2_uc009xzy.3_Frame_Shift_Del_p.T225fs|TACC2_uc001lgb.3_Frame_Shift_Del_p.T182fs|TACC2_uc010qtw.1_Frame_Shift_Del_p.T242fs	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2147						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCCACAGAGACCCCCCCAGT	0.517												
FAM175B	23172	broad.mit.edu	37	10	126495406	126495406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:126495405_126495405AT>A	uc001lib.4	+	1	123	c.78_78AT>A	c.(76-78)ggafs	p.G26fs		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	26	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						TTTAGGAAGGATTTTTACTGG	0.294												
INPP5A	3632	broad.mit.edu	37	10	134503931	134503931	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:134503930_134503930TA>T	uc001llp.3	+	4	589	c.341_341TA>T	c.(340-342)ttafs	p.L114fs	INPP5A_uc001llo.1_Frame_Shift_Del_p.L114fs|INPP5A_uc001llq.3_Frame_Shift_Del_p.L66fs	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	114					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CATGAGTCCTTAAAAAACATC	0.428												
MTG1	92170	broad.mit.edu	37	10	135211971	135211971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr10:135211970_135211970TA>T	uc001lnd.3	+	3	418	c.314_314TA>T	c.(313-315)ctafs	p.L105fs	MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	105						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGAGAAGGCCTAAAAAATGTC	0.408												
OR51E2	81285	broad.mit.edu	37	11	4703475	4703476	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:4703474_4703475G>GA	uc001lzk.2	-	1	711_712	c.467_468C>TC	c.(466-468)ttcfs	p.F156fs	OR51E2_uc021qcr.1_Frame_Shift_Ins_p.F156fs	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGGCAGTGGGAAAAAAAAGAG	0.554												
AMPD3	272	broad.mit.edu	37	11	10500145	10500146	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:10500144_10500145G>GC	uc001min.1	+	2	665_666	c.320_321G>GC	c.(319-321)ggcfs	p.G107fs	AMPD3_uc010rbz.1_Intron|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc009yfx.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc001mio.1_Frame_Shift_Ins_p.G98fs|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Frame_Shift_Ins_p.G105fs|AMPD3_uc009yfy.2_Frame_Shift_Ins_p.G98fs	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	98					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATTGGAAGGGCCCCCCGGCAG	0.579												
CCDC73	493860	broad.mit.edu	37	11	32635393	32635393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:32635392_32635392AT>A	uc001mtv.3	-	15	2516	c.2472_2472AT>T	c.(2470-2472)aatfs	p.N824fs		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	824										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GGAAGAGGTCATTTTTTGTGG	0.318												
NAT10	55226	broad.mit.edu	37	11	34158307	34158307	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:34158306_34158306AC>A	uc001mvk.3	+	19	2390	c.2146_2146AC>A	c.(2146-2148)accfs	p.T716fs	NAT10_uc010ren.2_Frame_Shift_Del_p.T644fs	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	716	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CTATGGCTTGACCCCCAGGCT	0.547												
RAG2	5897	broad.mit.edu	37	11	36614195	36614195	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:36614194_36614194CT>C	uc021qge.1	-	0	1525	c.1525_1525AG>G	c.(1525-1527)ggtfs	p.G509fs	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Frame_Shift_Del_p.G509fs|RAG2_uc021qgd.1_Frame_Shift_Del_p.G509fs|RAG2_uc001mwv.4_Frame_Shift_Del_p.G509fs|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	509					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTCCAGAACCTTTTTTACGG	0.398									Familial Hemophagocytic Lymphohistiocytosis			
HSD17B12	51144	broad.mit.edu	37	11	43859951	43859952	+	Splice_Site	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:43859950_43859951T>TA	uc001mxq.4	+	8	853	c.618_splice	c.e8+2	p.K206_splice		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	206					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						GCAACCAAGGTAAAAAATATTT	0.356												
FOLH1	2346	broad.mit.edu	37	11	49179535	49179535	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:49179534_49179534CT>C	uc001ngy.3	-	13	1763	c.1502_1502AG>G	c.(1501-1503)agtfs	p.S501fs	FOLH1_uc009yly.3_Frame_Shift_Del_p.S486fs|FOLH1_uc009ylz.3_Frame_Shift_Del_p.S486fs|FOLH1_uc001ngz.3_Frame_Shift_Del_p.S501fs|FOLH1_uc009yma.3_Frame_Shift_Del_p.S193fs	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	501	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.K500E(1)|p.S501fs*12(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGGGGAAGGACTTTTTTTAGT	0.348												
MPEG1	219972	broad.mit.edu	37	11	58979972	58979973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:58979971_58979972G>GA	uc001nnu.4	-	0	523_524	c.367_368C>TC	c.(367-369)tccfs	p.S123fs		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	123	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATTGACTTTGGAAAAAAGAGAG	0.460												
DAK	26007	broad.mit.edu	37	11	61113349	61113349	+	Frame_Shift_Del	DEL	G	G	-	rs148702395	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:61113348_61113348CG>C	uc001nre.3	+	16	1762	c.1505_1505CG>C	c.(1504-1506)gcgfs	p.A502fs	DAK_uc009ynm.1_Frame_Shift_Del_p.A432fs	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	502	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGTGGGCAGCGGGGCAGGAG	0.602												
DAGLA	747	broad.mit.edu	37	11	61511485	61511485	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:61511484_61511484TG>T	uc001nsa.3	+	19	2768	c.2652_2652TG>T	c.(2650-2652)ggtfs	p.G884fs		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	884					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGGTTGGCGGTGGGGGTGGCG	0.721												
RELT	84957	broad.mit.edu	37	11	73101832	73101832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:73101831_73101831GC>G	uc001otv.3	+	3	317	c.152_152GC>G	c.(151-153)tgcfs	p.C51fs	RELT_uc001otw.3_Frame_Shift_Del_p.C51fs|RELT_uc009yto.1_5'UTR|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	51						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TGCAGGCCCTGCCCCCCAGGC	0.672												
RNF169	254225	broad.mit.edu	37	11	74547254	74547254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:74547253_74547253AG>A	uc001ovl.4	+	5	1618	c.1605_1605AG>A	c.(1603-1605)aaafs	p.K535fs	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	535							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGAACTCAAAGGGGGAGGCA	0.473												
C11orf54	28970	broad.mit.edu	37	11	93494710	93494710	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:93494709_93494709AT>A	uc001peh.3	+	8	997	c.803_803AT>A	c.(802-804)catfs	p.H268fs	C11orf54_uc001pef.3_Frame_Shift_Del_p.H218fs|C11orf54_uc009ywi.3_Frame_Shift_Del_p.H268fs|C11orf54_uc001peg.3_Frame_Shift_Del_p.H268fs|C11orf54_uc001pei.3_Frame_Shift_Del_p.H249fs|C11orf54_uc001pej.3_Frame_Shift_Del_p.H249fs|C11orf54_uc001pek.3_Frame_Shift_Del_p.H157fs	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	268						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGCACACTCATTTTTTTAGT	0.373												
ANGPTL5	253935	broad.mit.edu	37	11	101765644	101765645	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:101765643_101765644T>TA	uc001pgl.3	-	7	1409_1410	c.813_814A>TA	c.(811-816)tttaaafs	p.F271fs		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	271	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding	p.F271F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AAGTGCATTTTAAAAAATCTCG	0.317												
MMP13	4322	broad.mit.edu	37	11	102825278	102825278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:102825277_102825277CT>C	uc001phl.3	-	2	450	c.421_421AG>G	c.(421-423)gccfs	p.A141fs		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	141					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACTTTGAAGGCTTTTTTGAAT	0.368												
MMP13	4322	broad.mit.edu	37	11	102826023	102826023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:102826022_102826022GA>G	uc001phl.3	-	1	350	c.321_321TC>C	c.(319-321)ttcfs	p.F107fs		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	107					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAGTTCGAGGGAAAACATTGT	0.378												
CUL5	8065	broad.mit.edu	37	11	107944205	107944207	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107944204_107944206TTTC>T	uc001pjv.3	+	9	1760_1762	c.1093_1095TTTC>T	c.(1093-1095)ttt>T	p.F365del	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	365					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGATCCACGATTTCTTACTGCAA	0.266												
CUL5	8065	broad.mit.edu	37	11	107960253	107960253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:107960252_107960252GT>G	uc001pjv.3	+	12	2012	c.1345_1345GT>G	c.(1345-1347)gttfs	p.V449fs	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	449					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAACAAAGATGTTTTTATGAG	0.338												
DDX6	1656	broad.mit.edu	37	11	118629614	118629615	+	Splice_Site	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118629613_118629614T>TG	uc001pub.2	-	9	1226	c.865_splice	c.e9-1	p.N289_splice	DDX6_uc001pua.2_5'UTR|DDX6_uc001puc.2_Splice_Site_p.N289_splice	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	289	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL							
BCL9L	283149	broad.mit.edu	37	11	118772509	118772509	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr11:118772508_118772508TC>T	uc001pug.3	-	5	2909	c.1944_1944GA>A	c.(1942-1944)ggafs	p.G648fs	BCL9L_uc009zal.3_Frame_Shift_Del_p.G643fs	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	648					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AATTGCTGGGTCCCCCCATAG	0.642												
C1QTNF5	114902	broad.mit.edu	37	11	119210190	119210191	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	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												
C1R	715	broad.mit.edu	37	12	7242010	7242010	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:7242009_7242009AG>A	uc010sfy.2	-	4	707	c.648_648CT>T	c.(646-648)cctfs	p.P216fs	C1R_uc010sfz.1_Frame_Shift_Del_p.P230fs|C1R_uc021quh.1_Frame_Shift_Del_p.P105fs|C1R_uc010sga.1_Frame_Shift_Del_p.P182fs	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	216	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCGCAGGTCAGGGGGGTAGG	0.597												
ETV6	2120	broad.mit.edu	37	12	12022502	12022502	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:12022501_12022501TC>T	uc001qzz.3	+	4	881	c.607_607TC>T	c.(607-609)tccfs	p.S203fs	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	203						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCCCCTCCGGTCCCCCCTGGA	0.637			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""							
MLL2	8085	broad.mit.edu	37	12	49441816	49441816	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:49441815_49441815GC>G	uc001rta.4	-	13	4169	c.4169_4169GC>C	c.(4168-4170)gcafs	p.A1390fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	1390					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTGGCCCTCTGCCCCCCGGCC	0.567			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
PRPF40B	25766	broad.mit.edu	37	12	50025229	50025229	+	Frame_Shift_Del	DEL	C	C	-	rs139675241		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:50025228_50025228AC>A	uc001rur.1	+	1	126	c.63_63AC>A	c.(61-63)ctafs	p.L21fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.L43fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.L15fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	21	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CGATGGGGCTACCCCCCATGA	0.607												
SLC11A2	4891	broad.mit.edu	37	12	51392999	51392999	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:51392998_51392998CA>C	uc001rxk.2	-	7	771	c.721_721TG>G	c.(721-723)ggcfs	p.G241fs	SLC11A2_uc001rxd.4_Frame_Shift_Del_p.G61fs|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxc.4_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smx.2_Frame_Shift_Del_p.G208fs|SLC11A2_uc001rxh.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc010smy.2_Frame_Shift_Del_p.G175fs|SLC11A2_uc001rxj.2_Frame_Shift_Del_p.G212fs|SLC11A2_uc001rxi.3_Frame_Shift_Del_p.G212fs	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	212					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGAGAAAGCCAAAAAATGCT	0.413												
OR6C2	341416	broad.mit.edu	37	12	55846325	55846325	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:55846324_55846324AT>A	uc001sgz.1	+	0	327	c.327_327AT>A	c.(325-327)gaafs	p.E109fs		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAGCAACAGAATTTTTTCTCT	0.403												
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56628996_56628998CCTG>C	uc010sqj.2	+	6	947_949	c.690_692CCTG>C	c.(688-693)tccctg>tcCg	p.L234del	SLC39A5_uc010sqi.2_In_Frame_Del_p.L125del|SLC39A5_uc010sqk.2_In_Frame_Del_p.L234del	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	234					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCCCTATCCCTGCTGCTGCTG	0.635												
STAT2	6773	broad.mit.edu	37	12	56742817	56742818	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:56742816_56742817T>TG	uc001slc.3	-	16	1670_1671	c.1467_1468A>CA	c.(1465-1470)cccaagfs	p.P489fs	STAT2_uc001slb.3_Frame_Shift_Ins_p.P31fs|STAT2_uc001sld.3_Frame_Shift_Ins_p.P485fs|STAT2_uc010sqn.2_3'UTR	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	489					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594												
GLI1	2735	broad.mit.edu	37	12	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597												
AVPR1A	552	broad.mit.edu	37	12	63541343	63541343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:63541342_63541342TA>T	uc001sro.1	-	1	3028	c.1054_1054TA>A	c.(1054-1056)agtfs	p.S352fs		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	352					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AGATGGCCACTAAAAAACATG	0.398												
BEST3	144453	broad.mit.edu	37	12	70049362	70049363	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:70049361_70049362T>TG	uc001svg.3	-	9	1559_1560	c.1332_1333A>CA	c.(1330-1335)cccaggfs	p.P444fs	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Frame_Shift_Ins_p.P231fs|BEST3_uc010stm.2_Frame_Shift_Ins_p.P338fs	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594												
LUM	4060	broad.mit.edu	37	12	91502756	91502756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:91502755_91502755AT>A	uc001tbm.3	-	1	391	c.2_2AT>T	c.(1-3)atgfs	p.M1fs		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	1					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						ACTTAGACTCATTTTTGGCAA	0.303												
TDG	6996	broad.mit.edu	37	12	104373688	104373689	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:104373687_104373688C>CA	uc001tkg.3	+	2	468_469	c.245_246C>CA	c.(244-246)tcafs	p.S82fs	TDG_uc010swh.1_Frame_Shift_Ins_p.S82fs|TDG_uc009zuk.3_Frame_Shift_Ins_p.S78fs|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	82					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CCTGTTGAGTCAAAAAAATCTG	0.332								Base excision repair (BER), DNA glycosylases				
ACACB	32	broad.mit.edu	37	12	109604775	109604776	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:109604774_109604775T>TG	uc001tob.3	+	2	881_882	c.762_763T>TG	c.(760-765)tttgggfs	p.F254fs	ACACB_uc001toc.3_Frame_Shift_Ins_p.F254fs	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	254					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCACACGCTTTGGGGGGGATCG	0.614												
ALDH2	217	broad.mit.edu	37	12	112229927	112229928	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:112229926_112229927T>TG	uc001tst.3	+	7	953_954	c.857_858T>TG	c.(856-858)ctgfs	p.L286fs	ALDH2_uc010syi.2_Frame_Shift_Ins_p.L239fs	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	286					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma							
PRKAB1	5564	broad.mit.edu	37	12	120110201	120110201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:120110200_120110200CG>C	uc009zwu.3	+	2	357	c.254_254CG>C	c.(253-255)acgfs	p.T85fs	PRKAB1_uc001txg.3_Frame_Shift_Del_p.T85fs	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	85					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGA	0.517												
ACADS	35	broad.mit.edu	37	12	121175240	121175240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:121175239_121175239CA>C	uc001tza.4	+	3	559	c.441_441CA>C	c.(439-441)gacfs	p.D147fs	ACADS_uc010szl.1_Frame_Shift_Del_p.D147fs	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	147						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAGTGGTGACAAAATTGGCT	0.602												
STX2	2054	broad.mit.edu	37	12	131283100	131283100	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:131283099_131283099CT>C	uc001uio.3	-	8	924	c.757_757AG>G	c.(757-759)gctfs	p.A253fs	STX2_uc001uip.3_Frame_Shift_Del_p.A253fs|STX2_uc010tbj.2_Frame_Shift_Del_p.A253fs	NM_194356	NP_919337	P32856	STX2_HUMAN	Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA.	253	t-SNARE coiled-coil homology.				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	SNAP receptor activity|calcium-dependent protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TATTTGATAGCTTTTTTTGTT	0.338												
EP400	57634	broad.mit.edu	37	12	132446440	132446442	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr12:132446439_132446441TGAA>T	uc001ujn.3	+	1	1427_1429	c.1275_1277TGAA>T	c.(1273-1278)attgaa>atTa	p.E437del	EP400_uc021rgq.1_In_Frame_Del_p.E437del|EP400_uc001ujm.3_In_Frame_Del_p.E437del|EP400_uc001ujj.2_In_Frame_Del_p.E437del|EP400_uc001ujk.3_In_Frame_Del_p.E437del	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	437	Poly-Glu.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATTTGGACATTgaagaagaggag	0.379												
EFHA1	221154	broad.mit.edu	37	13	22069322	22069323	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:22069321_22069322G>GT	uc001uof.3	-	10	1246_1247	c.1178_1179C>AC	c.(1177-1179)aacfs	p.N393fs	EFHA1_uc010tct.2_Frame_Shift_Ins_p.N183fs	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	393	EF-hand 4.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		GATGCATTCTGTTTTTTAACAC	0.317												
POSTN	10631	broad.mit.edu	37	13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:38144789_38144789AT>A	uc001uwo.4	-	18	2315	c.2197_2197AT>T	c.(2197-2199)tacfs	p.Y733fs	POSTN_uc010tet.2_Frame_Shift_Del_p.Y234fs|POSTN_uc001uwp.4_Frame_Shift_Del_p.Y676fs|POSTN_uc001uwr.3_Frame_Shift_Del_p.Y706fs|POSTN_uc001uwq.3_Frame_Shift_Del_p.Y676fs|POSTN_uc010teu.1_Frame_Shift_Del_p.Y706fs|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	733					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATTTTGGTGTATTTTTTAATA	0.338												
KLHL1	57626	broad.mit.edu	37	13	70681728	70681728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:70681727_70681727TC>T	uc001vip.3	-	0	899	c.105_105GA>A	c.(103-105)ggafs	p.G35fs	KLHL1_uc010thm.2_Frame_Shift_Del_p.G35fs|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	35					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAGGCAGCCTCCCCCCGCCG	0.617												
DACH1	1602	broad.mit.edu	37	13	72049984	72049984	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:72049983_72049983TA>T	uc021rkj.1	-	9	2300	c.1877_splice	c.e9-1	p.A626_splice	DACH1_uc021rkk.1_Splice_Site_p.A478_splice|DACH1_uc021rkl.1_Splice_Site_p.A424_splice	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	676	DACHbox-C.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GAACTATGGCTAAAAAAGAGT	0.308												
EDNRB	1910	broad.mit.edu	37	13	78475267	78475267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:78475266_78475266TA>T	uc001vkp.1	-	4	1301	c.1148_1148TA>A	c.(1147-1149)tatfs	p.Y383fs	EDNRB_uc001vkq.1_Frame_Shift_Del_p.Y293fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Del_p.Y293fs|EDNRB_uc010aez.1_Frame_Shift_Del_p.Y293fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	293			P -> L (in HSCR2; familial).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.N382I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATTAGTGTATAAAAAAATGC	0.338												
UGGT2	55757	broad.mit.edu	37	13	96589237	96589237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:96589236_96589236AT>A	uc001vmt.3	-	16	2089	c.1919_1919AT>T	c.(1918-1920)atgfs	p.M640fs		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	640					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAGAACAGCCATTTTTAGTTC	0.318												
MBNL2	10150	broad.mit.edu	37	13	97999120	97999120	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:97999119_97999119AC>A	uc010aft.3	+	4	1418	c.602_602AC>A	c.(601-603)cacfs	p.H201fs	MBNL2_uc001vmz.3_Frame_Shift_Del_p.H201fs|MBNL2_uc001vna.3_Frame_Shift_Del_p.H201fs|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Intron|MBNL2_uc001vnc.3_5'Flank	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	201					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CGCTTTGCACACCCCGCAGAC	0.537												
IPO5	3843	broad.mit.edu	37	13	98669010	98669011	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:98669009_98669010CAA>C	uc001vne.3	+	24	2754_2755	c.2574_2575CAA>C	c.(2572-2577)accaaafs	p.T858fs		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	840					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATATTCTGACCAAAGTGTCAGA	0.282												
TPP2	7174	broad.mit.edu	37	13	103266498	103266498	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr13:103266497_103266497TA>T	uc001vpi.4	+	2	444	c.341_341TA>T	c.(340-342)atafs	p.I114fs		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	114					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATATTGGCATAAAAAATGGC	0.368												
ACIN1	22985	broad.mit.edu	37	14	23530654	23530654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:23530653_23530653CG>C	uc001wit.4	-	16	3780	c.3452_3452CG>G	c.(3451-3453)cggfs	p.R1151fs	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.R393fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.R393fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.R424fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.R832fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.R1138fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.R1111fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1151	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCCATTTCCCGTTCCCGTTC	0.687												
REC8	9985	broad.mit.edu	37	14	24642145	24642145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:24642144_24642144AC>A	uc001wmr.3	+	3	589	c.162_162AC>A	c.(160-162)caafs	p.Q54fs	REC8_uc001wms.3_Frame_Shift_Del_p.Q54fs	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	54					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TACGAGTGCAACCCCCGCAGC	0.612												
ARHGAP5	394	broad.mit.edu	37	14	32560445	32560446	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:32560444_32560445C>CA	uc001wrl.3	+	1	808_809	c.569_570C>CA	c.(568-570)tcafs	p.S190fs	ARHGAP5_uc001wrm.3_Frame_Shift_Ins_p.S190fs|ARHGAP5_uc001wrn.3_Frame_Shift_Ins_p.S190fs|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	190					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTATCAAAATCAAAAAAACCTG	0.312												
DDHD1	80821	broad.mit.edu	37	14	53540568	53540568	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:53540567_53540567TA>T	uc001xai.3	-	5	1520	c.1290_splice	c.e5-1	p.M430_splice	DDHD1_uc001xaj.3_Splice_Site_p.M437_splice|DDHD1_uc001xah.3_Splice_Site_p.M430_splice|DDHD1_uc001xag.3_Splice_Site_p.M12_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	430					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTCTCATCCTAAAAAAACAA	0.313												
ADAM20	8748	broad.mit.edu	37	14	70989358	70989358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:70989357_70989357TA>T	uc021rvs.1	-	0	2268	c.2268_2268TA>A	c.(2266-2268)ttafs	p.L756fs	ADAM20_uc001xme.3_Frame_Shift_Del_p.L756fs	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	706					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		AGCAAAATAATAAAAAAGCAA	0.358												
TRIP11	9321	broad.mit.edu	37	14	92472698	92472698	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:92472697_92472697CT>C	uc001xzy.3	-	10	1997	c.1623_1623AG>G	c.(1621-1623)aagfs	p.K541fs	TRIP11_uc010auf.2_Frame_Shift_Del_p.K277fs	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	541					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GATGAACTCTCTTTTTTTCAT	0.308			T	PDGFRB	AML							
IFI27	3429	broad.mit.edu	37	14	94578050	94578052	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr14:94578049_94578051CTCA>C	uc021sba.1	+	1	144_146	c.21_23CTCA>C	c.(19-24)acctca>acCa	p.S9del	IFI27_uc001ycm.1_Non-coding_Transcript|IFI27_uc001ycn.1_Intron	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	9					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		p.S8L(2)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CTGCTCTCACCTCATCAGCAGTG	0.601												
NIPA2	81614	broad.mit.edu	37	15	23021239	23021240	+	Frame_Shift_Ins	INS	-	-	T	rs145147241	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:23021238_23021239C>CT	uc001yvb.3	-	5	955_956	c.98_99G>AG	c.(97-99)aagfs	p.K33fs	NIPA2_uc001yux.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc001yuy.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc001yuz.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc010ayb.3_Frame_Shift_Ins_p.K33fs|NIPA2_uc001yva.3_Frame_Shift_Ins_p.K33fs	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	33						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAAGGAGGCCCTTTTTTTTCAA	0.450												
C15orf29	79768	broad.mit.edu	37	15	34444996	34444996	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:34444995_34444995GA>G	uc001zhp.3	-	3	594	c.434_434TC>C	c.(433-435)tctfs	p.S145fs	C15orf29_uc010ubz.2_Frame_Shift_Del_p.S49fs|C15orf29_uc010uca.1_Frame_Shift_Del_p.S145fs	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	145						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		ACTTACCTCAGAAAAAAACCC	0.328												
AQR	9716	broad.mit.edu	37	15	35236513	35236514	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:35236512_35236513G>GA	uc001ziv.3	-	5	628_629	c.447_448C>TC	c.(445-450)tttcttfs	p.F149fs		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	149						catalytic step 2 spliceosome	RNA binding	p.L150I(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAATGATCAAGAAAAAGTAGTA	0.332												
MGA	23269	broad.mit.edu	37	15	42003216	42003216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:42003215_42003215AT>A	uc010ucy.2	+	7	2933	c.2752_2752AT>A	c.(2752-2754)attfs	p.I918fs	MGA_uc001zog.1_Frame_Shift_Del_p.I918fs|MGA_uc010ucz.2_Frame_Shift_Del_p.I918fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	918						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTATAAATCCATTTTACCATA	0.403												
SPATA5L1	79029	broad.mit.edu	37	15	45710841	45710841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:45710840_45710840GT>G	uc001zve.3	+	6	2163	c.2054_2054GT>G	c.(2053-2055)tgtfs	p.C685fs	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	685						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCT	0.363												
CYP19A1	1588	broad.mit.edu	37	15	51529065	51529066	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:51529064_51529065AAT>A	uc001zyz.4	-	3	538_539	c.287_288ATT>T	c.(286-288)attfs	p.I96fs	CYP19A1_uc001zza.4_Frame_Shift_Del_p.I96fs|CYP19A1_uc001zzb.2_Frame_Shift_Del_p.I96fs|CYP19A1_uc001zzd.3_Frame_Shift_Del_p.I96fs|CYP19A1_uc010bey.1_Frame_Shift_Del_p.I96fs	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	96					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACTTGCTGATAATGAGTGTTTC	0.421												
DMXL2	23312	broad.mit.edu	37	15	51857323	51857324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:51857322_51857323C>CA	uc010ufy.2	-	3	551_552	c.326_327G>TG	c.(325-327)ttgfs	p.L109fs	DMXL2_uc002abf.3_Frame_Shift_Ins_p.L109fs|DMXL2_uc010bfa.3_Frame_Shift_Ins_p.L109fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	109						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCACAGAACTCAAAAAAAACTG	0.267												
PIGB	9488	broad.mit.edu	37	15	55621922	55621923	+	Splice_Site	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:55621921_55621922G>GT	uc002act.3	+	5	839	c.523_splice	c.e5-1	p.F175_splice	PIGB_uc010ugg.2_Splice_Site	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	175					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342												
VPS13C	54832	broad.mit.edu	37	15	62257063	62257063	+	Splice_Site	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:62257062_62257062TA>T	uc002agz.3	-	31	3143	c.3052_splice	c.e31-1	p.V1018_splice	VPS13C_uc002aha.3_Splice_Site_p.V975_splice|VPS13C_uc002ahb.2_Splice_Site_p.V1018_splice|VPS13C_uc002ahc.2_Splice_Site_p.V975_splice	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1018					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGGCCACCTAAAAATGTTT	0.373												
FBXL22	283807	broad.mit.edu	37	15	63889923	63889925	+	In_Frame_Del	DEL	TCC	TCC	-	rs149590841		TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:63889922_63889924TTCC>T	uc002amn.3	+	0	371_373	c.313_315TTCC>T	c.(313-315)ttc>T	p.F105del	LOC100130855_uc002amk.3_Intron|LOC100130855_uc002amj.3_Intron|FBXL22_uc002amm.2_In_Frame_Del_p.F105del	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	105										lung(4)	4						GGTCAATGATTTCCTCCTCCGGG	0.616												
IL16	3603	broad.mit.edu	37	15	81565501	81565502	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:81565500_81565501A>AT	uc021ssh.1	+	4	846_847	c.745_746A>AT	c.(745-747)attfs	p.I249fs	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Frame_Shift_Ins_p.I249fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Ins_p.I291fs|IL16_uc021ssg.1_Frame_Shift_Ins_p.I249fs|IL16_uc002bgg.3_Frame_Shift_Ins_p.I249fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	249	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGTCAAAACCATTTTTGCAGGG	0.510												
BNC1	646	broad.mit.edu	37	15	83935798	83935798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:83935797_83935797TG>T	uc002bjt.1	-	2	314	c.226_226CA>A	c.(226-228)atgfs	p.M76fs	BNC1_uc010uos.1_Frame_Shift_Del_p.M64fs	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	76					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTGGATACATGGGGGGGATC	0.423												
PDE8A	5151	broad.mit.edu	37	15	85652315	85652315	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:85652314_85652314GA>G	uc002blh.3	+	11	1256	c.1067_1067GA>G	c.(1066-1068)agafs	p.R356fs	PDE8A_uc021stv.1_Frame_Shift_Del_p.R284fs|PDE8A_uc002bli.3_Frame_Shift_Del_p.R310fs|PDE8A_uc010bnc.3_Frame_Shift_Del_p.R109fs|PDE8A_uc010bnd.3_Frame_Shift_Del_p.R109fs|PDE8A_uc002blj.3_5'UTR|PDE8A_uc002blk.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	356					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			AAAGACAGGAGAAAAGGCTCA	0.368												
CHSY1	22856	broad.mit.edu	37	15	101775437	101775438	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr15:101775436_101775437G>GC	uc021sxt.1	-	1	1142_1143	c.666_667C>GC	c.(664-669)gggcctfs	p.G222fs		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	222					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATCACGCCAGGCCCCCCCATGC	0.614												
E4F1	1877	broad.mit.edu	37	16	2285362	2285362	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:2285361_2285361AC>A	uc002cpm.3	+	13	2191	c.2143_2143AC>A	c.(2143-2145)accfs	p.T715fs	E4F1_uc010bsi.3_3'UTR|E4F1_uc010bsj.3_Frame_Shift_Del_p.T538fs|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	715					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CACCATCGCCACCCCCGAGAG	0.682												
SEC14L5	9717	broad.mit.edu	37	16	5061152	5061153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:5061151_5061152G>GC	uc002cye.2	+	14	2036_2037	c.1856_1857G>GC	c.(1855-1857)agcfs	p.S619fs		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	619	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAATGCACAGCCCCCCCAGCA	0.663												
PALB2	79728	broad.mit.edu	37	16	23646981	23646981	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:23646980_23646980AT>A	uc002dlx.1	-	3	1087	c.887_887AT>T	c.(886-888)atgfs	p.M296fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	296	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AGAGACAGTCATTTTTTTGCC	0.368			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks				
PPP4C	5531	broad.mit.edu	37	16	30094825	30094826	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30094824_30094825CTG>C	uc002dwe.3	+	5	548_549	c.413_414CTG>C	c.(412-414)actfs	p.T138fs	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Frame_Shift_Del_p.T138fs	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	138					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGCTCGGTGACTGTGTGGCGCT	0.579												
ZNF48	197407	broad.mit.edu	37	16	30409310	30409311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:30409309_30409310G>GC	uc002dya.2	+	1	1114_1115	c.738_739G>GC	c.(736-741)cagcccfs	p.Q246fs	ZNF48_uc021tgi.1_Frame_Shift_Ins_p.Q246fs|ZNF48_uc021tgj.1_Frame_Shift_Ins_p.Q123fs|ZNF48_uc021tgk.1_Frame_Shift_Ins_p.Q246fs	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGGGGGAGCAGCCCCCCCGACC	0.639												
PRSS36	146547	broad.mit.edu	37	16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:31151941_31151941AG>A	uc002ebd.3	-	12	2098	c.2039_2039CT>T	c.(2038-2040)ctgfs	p.L680fs	PRSS36_uc010vff.2_Frame_Shift_Del_p.L455fs|PRSS36_uc010vfg.2_Frame_Shift_Del_p.L675fs|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	680	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGAGGGCCAGGGGGGGCCT	0.731												
PLA2G15	23659	broad.mit.edu	37	16	68289855	68289855	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68289854_68289854TG>T	uc002evr.3	+	4	771	c.688_688TG>T	c.(688-690)tggfs	p.W230fs	PLA2G15_uc010vld.2_Frame_Shift_Del_p.L188fs|PLA2G15_uc010vle.2_Frame_Shift_Del_p.W136fs|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_Frame_Shift_Del_p.W51fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	230					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGGTGCGCCCTGGGGGGGCGT	0.632												
TMCO7	79613	broad.mit.edu	37	16	68934404	68934405	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:68934403_68934404C>CT	uc002ewi.4	+	7	1456_1457	c.1444_1445C>CT	c.(1444-1446)cttfs	p.L482fs		NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	482						integral to membrane	binding	p.L11V(1)|p.L482V(1)|p.S481*(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CCTGGGAGTGCTTTTTCTTCTC	0.386												
COG4	25839	broad.mit.edu	37	16	70530337	70530337	+	Splice_Site	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr16:70530336_70530336TG>T	uc002ezc.3	-	12	1493	c.1482_splice	c.e12-1	p.R494_splice	COG4_uc002ezd.3_Splice_Site_p.R494_splice|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site_p.R188_splice	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	490					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAACATCCCTGGGGGGCAGG	0.567												
KIAA0664	23277	broad.mit.edu	37	17	2601713	2601714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:2601712_2601713T>TC	uc002fuy.1	-	9	1410_1411	c.1324_1325A>GA	c.(1324-1326)gacfs	p.D442fs	KIAA0664_uc002fux.1_Frame_Shift_Ins_p.D374fs	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	442							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGCCGCCACGTCCCCCCCGAAG	0.624												
GP1BA	2811	broad.mit.edu	37	17	4837373	4837373	+	RNA	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:4837372_4837372CA>C	uc021toc.1	-	0		c.485_485TG>G			GP1BA_uc021tnz.1_Frame_Shift_Del_p.T491fs|GP1BA_uc021toa.1_5'Flank|GP1BA_uc021tob.1_Frame_Shift_Del_p.T491fs			E7ES66	E7ES66_HUMAN	Synthetic construct clone IMAGE:100003573; FLH167768.01X; RZPDo839F0190D glycoprotein Ib (platelet), alpha polypeptide (GP1BA) gene, encodes complete protein.											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						TAGAATCCACCAAAAAAACCA	0.502												
VAMP2	6844	broad.mit.edu	37	17	8065661	8065661	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:8065660_8065660AG>A	uc010cnt.1	-	1	126	c.30_30CT>T	c.(28-30)cctfs	p.P10fs		NM_014232	NP_055047	P63027	VAMP2_HUMAN	Homo sapiens vesicle-associated membrane protein 2 (synaptobrevin 2) (VAMP2), mRNA.	10					energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome										Botulinum Toxin Type B(DB00042)	CCGGGGCAGCAGGGGGGGCCG	0.697												
GPR179	440435	broad.mit.edu	37	17	36485820	36485820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36485819_36485819GT>G	uc002hpz.3	-	10	3654	c.3633_3633AC>C	c.(3631-3633)aacfs	p.N1211fs		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1211						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTGCTTGATGTTTTTGTCCC	0.572												
SRCIN1	80725	broad.mit.edu	37	17	36708254	36708254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:36708253_36708253TG>T	uc002hqd.3	-	13	2821	c.2596_2596CA>A	c.(2596-2598)agcfs	p.S866fs	SRCIN1_uc002hqf.1_Frame_Shift_Del_p.S738fs|SRCIN1_uc002hqe.2_Frame_Shift_Del_p.S720fs|SRCIN1_uc002hqg.3_Frame_Shift_Del_p.S172fs	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	738	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCGGGGGGCTGGGGGGTGGC	0.617												
OSBPL7	114881	broad.mit.edu	37	17	45891907	45891908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:45891906_45891907T>TC	uc002ilx.1	-	13	1534_1535	c.1331_1332A>GA	c.(1330-1332)ggafs	p.G444fs	OSBPL7_uc002ilw.1_Frame_Shift_Ins_p.G6fs	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	444					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGCGCTCAGCTCCCCTGAGGTC	0.629												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
ABCA9	10350	broad.mit.edu	37	17	67012397	67012397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:67012396_67012396CA>C	uc002jhu.3	-	21	3180	c.3037_3037TG>G	c.(3037-3039)gaafs	p.E1013fs	ABCA9_uc010dez.3_Frame_Shift_Del_p.E1013fs	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1013					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATACTTACTTCAAAAAATGTG	0.308												
C17orf80	55028	broad.mit.edu	37	17	71232985	71232986	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71232984_71232985ACT>A	uc002jjm.4	+	2	1557_1558	c.1363_1364ACT>A	c.(1363-1365)actfs	p.T455fs	C17orf80_uc010wqu.1_Frame_Shift_Del_p.T455fs|C17orf80_uc010dfj.3_Frame_Shift_Del_p.T455fs|C17orf80_uc002jjk.1_Frame_Shift_Del_p.T455fs|C17orf80_uc002jjl.4_Frame_Shift_Del_p.T455fs	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	455						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGCAGGAAGACTCTTCGCAGC	0.564												
SDK2	54549	broad.mit.edu	37	17	71426726	71426727	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:71426725_71426726T>TG	uc010dfm.3	-	11	1507_1508	c.1507_1508A>CA	c.(1507-1509)cagfs	p.Q503fs	SDK2_uc010dfn.2_Frame_Shift_Ins_p.Q182fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	503	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACTCTGATCCTGGGGGGGCTTG	0.604												
SLC16A5	9121	broad.mit.edu	37	17	73094227	73094229	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73094226_73094228CCTT>C	uc002jmr.3	+	3	665_667	c.293_295CCTT>C	c.(292-297)tccttc>tCtc	p.F99del	SLC16A5_uc002jmt.3_In_Frame_Del_p.F99del|SLC16A5_uc002jmu.3_In_Frame_Del_p.F99del|SLC16A5_uc010wrt.2_In_Frame_Del_p.F139del	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	99					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGGCCAGCTCCTTCTCTCACAA	0.591												
KIAA0195	9772	broad.mit.edu	37	17	73491063	73491063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr17:73491062_73491062TC>T	uc010wsa.2	+	18	2897	c.2705_2705TC>T	c.(2704-2706)atcfs	p.I902fs	KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	892					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTCCGAGATCCCCCCCTCC	0.612												
NARS	4677	broad.mit.edu	37	18	55274480	55274481	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:55274479_55274480C>CA	uc002lgs.2	-	8	1115_1116	c.887_888G>TG	c.(886-888)ttgfs	p.L296fs	NARS_uc010xea.1_Frame_Shift_Ins_p.L47fs|NARS_uc010xeb.1_Non-coding_Transcript|NARS_uc010xec.2_3'UTR|NARS_uc010xed.2_3'UTR	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	296					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding	p.L296F(2)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	AGGATTGAGTCAAAAATGCCTC	0.465												
NETO1	81832	broad.mit.edu	37	18	70526301	70526302	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr18:70526300_70526301C>CT	uc002lkw.3	-	3	513_514	c.229_230G>AG	c.(229-231)agafs	p.R77fs	NETO1_uc002lky.2_Frame_Shift_Ins_p.R77fs|NETO1_uc002lkz.3_Frame_Shift_Ins_p.R76fs	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	77	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATGCACTGTCTTGGAGCGGCT	0.366												
TCF3	6929	broad.mit.edu	37	19	1615698	1615698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:1615697_1615697CG>C	uc002ltr.3	-	16	1643	c.1574_1574CG>G	c.(1573-1575)cggfs	p.R525fs	TCF3_uc002ltn.3_5'UTR|TCF3_uc002lto.3_Frame_Shift_Del_p.R286fs|TCF3_uc002ltt.4_Frame_Shift_Del_p.R525fs|TCF3_uc002ltq.3_Frame_Shift_Del_p.R474fs|TCF3_uc002lts.1_Frame_Shift_Del_p.R441fs	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	525					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	p.R525R(1)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCGGGCCCGGGGGGCCTT	0.682			T	"""PBX1, HLF, TFPT"""	pre B-ALL							
TLE2	7089	broad.mit.edu	37	19	3005855	3005856	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:3005854_3005855C>CG	uc010dth.3	-	15	1878_1879	c.1615_1616G>CG	c.(1615-1617)cgtfs	p.R539fs	TLE2_uc010xhb.2_Frame_Shift_Ins_p.R205fs|TLE2_uc002lww.3_Frame_Shift_Ins_p.R538fs|TLE2_uc010xhc.2_Frame_Shift_Ins_p.R416fs|TLE2_uc010dti.3_Frame_Shift_Ins_p.R552fs	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	538					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTTGATACGGGGGGTGGGC	0.639												
ARRDC5	645432	broad.mit.edu	37	19	4902846	4902846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:4902845_4902845TG>T	uc002mbm.3	-	0	35	c.35_35CA>A	c.(34-36)caafs	p.Q12fs		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	12					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CATGGGGGGTTGGGGGGTAGA	0.527												
LONP1	9361	broad.mit.edu	37	19	5693408	5693409	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:5693407_5693408T>TGG	uc002mcx.3	-	16	2637_2638	c.2604_2605A>CCA	c.(2602-2607)gccatgfs	p.A868fs	LONP1_uc002mcy.3_Frame_Shift_Ins_p.A804fs|LONP1_uc010duh.3_Frame_Shift_Ins_p.A609fs|LONP1_uc010dui.3_Frame_Shift_Ins_p.A852fs|LONP1_uc002mcz.3_Frame_Shift_Ins_p.A672fs	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	868					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCTGCCCATGGCCAGGGACA	0.644												
ARHGEF18	23370	broad.mit.edu	37	19	7535174	7535176	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:7535173_7535175ATCT>A	uc002mgi.3	+	18	3764_3766	c.3511_3513ATCT>A	c.(3511-3513)atc>A	p.I1171del	ARHGEF18_uc010xjm.1_In_Frame_Del_p.I1013del|ARHGEF18_uc002mgh.3_In_Frame_Del_p.I1013del|ARHGEF18_uc002mgj.1_In_Frame_Del_p.I808del|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1171					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGAAGACGTCATCTTCTTCTAAA	0.675												
SNAPC2	6618	broad.mit.edu	37	19	7987519	7987519	+	Frame_Shift_Del	DEL	C	C	-	rs143745112	byFrequency	TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:7987518_7987518AC>A	uc002miw.2	+	4	932	c.874_874AC>A	c.(874-876)accfs	p.T292fs	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	292					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						ACCAGAGGAGACCCCCCCAGC	0.667												
DNM2	1785	broad.mit.edu	37	19	10941025	10941025	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:10941024_10941024TC>T	uc002mpt.2	+	19	2703	c.2513_2513TC>T	c.(2512-2514)atcfs	p.I838fs	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Frame_Shift_Del_p.I838fs|DNM2_uc010dxl.2_Frame_Shift_Del_p.I838fs|DNM2_uc002mpu.2_Frame_Shift_Del_p.I834fs|DNM2_uc002mpv.2_Frame_Shift_Del_p.I834fs|DNM2_uc002mpw.3_Frame_Shift_Del_p.I567fs|DNM2_uc002mpx.1_Frame_Shift_Del_p.I194fs	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	838	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAGTTCGGATCCCCCCAGGG	0.662			"""F, N, Splice, Mis, O"""		ETP ALL							
AKAP8	10270	broad.mit.edu	37	19	15466133	15466135	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:15466132_15466134TCTC>T	uc002nav.3	-	13	1741_1743	c.1671_1673GAGA>A	c.(1669-1674)ggagat>ggAt	p.D559del	AKAP8_uc010dzy.3_In_Frame_Del_p.D108del	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	559					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TAAATTGTCATCTCCTTCCATTT	0.542												
NCAN	1463	broad.mit.edu	37	19	19338279	19338279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:19338278_19338278GC>G	uc002nlz.3	+	7	1948	c.1849_1849GC>G	c.(1849-1851)gccfs	p.A617fs	NCAN_uc010ecc.1_Frame_Shift_Del_p.A181fs	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	617					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCCCAGCCCTGCCCCCTGGGA	0.642												
COX7A1	1346	broad.mit.edu	37	19	36642444	36642446	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:36642443_36642445GTCC>G	uc002odm.1	-	2	568_570	c.106_108GGAC>C	c.(106-108)gac>C	p.D36del		NM_001864	NP_001855	P24310	CX7A1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 1 (muscle) (COX7A1), nuclear gene encoding mitochondrial protein, mRNA.	36					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGATGTCATTGTCCTCCTGGATG	0.660												
ZNF404	342908	broad.mit.edu	37	19	44378024	44378024	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:44378023_44378023GT>G	uc002oxs.4	-	1	334	c.334_334AC>C	c.(334-336)catfs	p.H112fs		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGGGATTTATGTTTTTTGAAT	0.333												
CEACAM16	388551	broad.mit.edu	37	19	45206716	45206716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45206715_45206715CG>C	uc010xxd.2	+	2	340	c.134_134CG>C	c.(133-135)tcgfs	p.S45fs		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	45										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CATGGGCTTTCGGGGGAACTG	0.622												
APOC4	346	broad.mit.edu	37	19	45451758	45451759	+	RNA	DEL	CT	CT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:45451757_45451758GCT>G	uc002pah.3	+	3		c.1229_1230GCT>G			APOC4_uc021uvn.1_Non-coding_Transcript	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		ACTCCTCCCAGCTCTGTTTCTT	0.599												
DMPK	1760	broad.mit.edu	37	19	46282701	46282701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:46282700_46282700GC>G	uc002pdi.1	-	3	597	c.411_411GC>C	c.(409-411)ggcfs	p.G137fs	DMPK_uc010xxs.1_Frame_Shift_Del_p.G22fs|DMPK_uc002pdd.1_Frame_Shift_Del_p.G121fs|DMPK_uc002pde.1_Frame_Shift_Del_p.G121fs|DMPK_uc002pdg.1_Frame_Shift_Del_p.G111fs|DMPK_uc002pdf.1_Frame_Shift_Del_p.G111fs|DMPK_uc002pdh.1_Frame_Shift_Del_p.G111fs|DMPK_uc010xxt.1_Frame_Shift_Del_p.G111fs|DMPK_uc010xxu.1_Frame_Shift_Del_p.G121fs	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	121	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCCTCACCTCGCCCCTCTTCA	0.622												
CABP5	56344	broad.mit.edu	37	19	48537535	48537535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:48537534_48537534CG>C	uc002phu.2	-	4	566	c.434_434CG>G	c.(433-435)cggfs	p.R145fs		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	145	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		AGAGATCTCCCGGGGGGTGAG	0.597												
SCAF1	58506	broad.mit.edu	37	19	50154472	50154474	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:50154471_50154473GGAA>G	uc002poq.3	+	6	949_951	c.825_827GGAA>G	c.(823-828)gaggaa>gaGa	p.275_276EE>E		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	275	Glu-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		aggaggaagaggaagaagaagag	0.606												
LENG1	79165	broad.mit.edu	37	19	54660654	54660654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54660653_54660653CG>C	uc002qdm.3	-	2	436	c.423_423CG>G	c.(421-423)ccgfs	p.P141fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	141										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTGGGCCGGGCGGGGGGCCCC	0.637												
LENG8	114823	broad.mit.edu	37	19	54965617	54965617	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:54965616_54965616TC>T	uc002qfv.1	+	4	467	c.323_323TC>T	c.(322-324)gtcfs	p.V108fs	LENG8_uc002qfw.2_Frame_Shift_Del_p.V145fs			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	108							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAGCCCCCAGTCCCCGGCATG	0.672												
NLRP13	126204	broad.mit.edu	37	19	56443533	56443533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:56443532_56443532TG>T	uc010ygg.2	-	0	171	c.146_146CA>A	c.(145-147)cagfs	p.Q49fs		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	49	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAGTGCCCCTGGGGGGCCGA	0.557												
ZNF256	10172	broad.mit.edu	37	19	58453724	58453725	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr19:58453723_58453724G>GC	uc002qqu.3	-	2	687_688	c.452_453C>GC	c.(451-453)ggcfs	p.G151fs	ZNF256_uc010euj.3_5'UTR	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	151					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		ACATGTCTCTGCCCCCATTGCT	0.450												
SIGLEC1	6614	broad.mit.edu	37	20	3684491	3684491	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:3684490_3684490TG>T	uc002wja.3	-	3	955	c.955_955CA>A	c.(955-957)atcfs	p.I319fs	SIGLEC1_uc002wiz.4_Frame_Shift_Del_p.I319fs|SIGLEC1_uc002wjc.3_Frame_Shift_Del_p.I230fs	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	319	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318L(2)|p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCTGATGGGGGGTGAG	0.617												
BTBD3	22903	broad.mit.edu	37	20	11898962	11898964	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:11898961_11898963CCTT>C	uc002wnz.3	+	0	397_399	c.38_40CCTT>C	c.(37-42)accttc>aCtc	p.F15del	BTBD3_uc002wny.3_Intron|BTBD3_uc002woa.3_Intron|BTBD3_uc010zrf.2_Intron|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	15										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAATGTCTCACCTTCTTCTTGAT	0.419												
PAX1	5075	broad.mit.edu	37	20	21687285	21687285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:21687284_21687284CG>C	uc002wsj.2	+	1	549	c.495_495CG>C	c.(493-495)atcfs	p.I165fs	PAX1_uc010zsl.2_Frame_Shift_Del_p.I165fs|PAX1_uc010zsm.2_Frame_Shift_Del_p.I141fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	165	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCGGGGCCATCGGGGGGAGCA	0.647												
PAX1	5075	broad.mit.edu	37	20	21687610	21687611	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:21687609_21687610C>CT	uc002wsj.2	+	1	874_875	c.820_821C>CT	c.(820-822)ccgfs	p.P274fs	PAX1_uc010zsl.2_Frame_Shift_Ins_p.P274fs|PAX1_uc010zsm.2_Frame_Shift_Ins_p.P250fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	274					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.P274Q(1)|p.P180Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCCGGGGTCCCGGGCACGGCG	0.673												
PLAGL2	5326	broad.mit.edu	37	20	30789952	30789952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:30789951_30789951AG>A	uc002wxn.2	-	1	248	c.31_31CT>T	c.(31-33)tggfs	p.W11fs		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	11						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCTTGAATCCAGGGGGGGACG	0.557												
RALGAPB	57148	broad.mit.edu	37	20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:37146232_37146232AC>A	uc002xiw.3	+	7	1392	c.1135_1135AC>A	c.(1135-1137)accfs	p.T379fs	RALGAPB_uc010zvz.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xix.3_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Del_p.T379fs|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Del_p.T106fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	379					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACA	0.443												
TP53RK	112858	broad.mit.edu	37	20	45315634	45315634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr20:45315633_45315633AG>A	uc002xsk.3	-	1	744	c.521_521CT>T	c.(520-522)ctgfs	p.L174fs	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	174	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(2)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGCTGTTCCAGGGGGGGTTT	0.493												
DSCR6	53820	broad.mit.edu	37	21	38390443	38390443	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:38390442_38390442TG>T	uc002yvv.3	+	3	718	c.508_508TG>T	c.(508-510)tggfs	p.W170fs	DSCR6_uc011aec.2_Frame_Shift_Del_p.T56fs|DSCR6_uc010gnd.3_Frame_Shift_Del_p.T56fs	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	170						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GGGTGACCACTGGGGGGAGGG	0.637												
BRWD1	54014	broad.mit.edu	37	21	40636903	40636903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:40636902_40636902GA>G	uc002yxk.2	-	15	1869	c.1574_1574TC>C	c.(1573-1575)tcafs	p.S525fs	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Frame_Shift_Del_p.S525fs|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Frame_Shift_Del_p.S245fs	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCATCCTGTGAAAACTTACA	0.383											OREG0003860	type=REGULATORY REGION|Gene=AK125906|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
KRTAP10-3	386682	broad.mit.edu	37	21	45978317	45978317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chr21:45978316_45978316AG>A	uc002zfj.1	-	0	328	c.283_283CT>T	c.(283-285)tgcfs	p.C95fs	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	95	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						gcctgctggcagggggaggat	0.662												
DMD	1756	broad.mit.edu	37	X	32361293	32361293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:32361292_32361292AT>A	uc004dda.1	-	39	5942	c.5698_5698AT>T	c.(5698-5700)ttafs	p.L1900fs	DMD_uc004dcw.2_Frame_Shift_Del_p.L556fs|DMD_uc004dcx.2_Frame_Shift_Del_p.L559fs|DMD_uc004dcz.2_Frame_Shift_Del_p.L1777fs|DMD_uc004dcy.1_Frame_Shift_Del_p.L1896fs|DMD_uc004ddb.1_Frame_Shift_Del_p.L1892fs|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1900	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGCTGGCTAATTTTTTTTCA	0.353												
ZNF449	203523	broad.mit.edu	37	X	134494268	134494269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:134494267_134494268A>AC	uc004eys.3	+	4	988_989	c.823_824A>AC	c.(823-825)accfs	p.T275fs	ZNF449_uc004eyt.3_Frame_Shift_Ins_p.T155fs|ZNF449_uc004eyu.3_Frame_Shift_Ins_p.T81fs	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	275					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436												
HTATSF1	27336	broad.mit.edu	37	X	135594075	135594076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HU-A4GQ-01A-11D-A25D-08	TCGA-HU-A4GQ-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b8c6d7-933b-450a-9cb3-3266e6ff8096	b0459656-b4a9-4132-87e0-047418fbb6fe	g.chrX:135594074_135594075A>AG	uc004ezw.3	+	9	2592_2593	c.2170_2171A>AG	c.(2170-2172)aggfs	p.R724fs	HTATSF1_uc004ezx.3_Frame_Shift_Ins_p.R724fs	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	724	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TTCTGATGAGAGGGGGACTTTG	0.441