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	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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	filter
DVL1	1855	broad.mit.edu	37	1	1273368	1273368	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1273368T>A	uc001aer.3	-	14	1675	c.1628A>T	c.(1627-1629)CAG>CTG	p.Q543L	DVL1_uc002quu.2_Missense_Mutation_p.Q285L|DVL1_uc009vka.2_Missense_Mutation_p.Q226L|DVL1_uc001aeu.1_Missense_Mutation_p.Q302L	NM_004421	NP_004412	O14640	DVL1_HUMAN	dishevelled 1	568					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer 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;2.83e-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;0.145)		TTCACTCTGCTGACTCCCGGT	0.488													3	6	---	---	---	---	PASS
KCNAB2	8514	broad.mit.edu	37	1	6133813	6133813	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6133813G>A	uc009vlv.1	+	5	319	c.184G>A	c.(184-186)GGC>AGC	p.G62S	KCNAB2_uc001alv.1_Missense_Mutation_p.G62S|KCNAB2_uc001alw.1_Missense_Mutation_p.G48S|KCNAB2_uc001alx.1_Missense_Mutation_p.G62S|KCNAB2_uc001aly.1_Missense_Mutation_p.G95S|KCNAB2_uc009vlw.1_5'UTR|KCNAB2_uc001alu.2_Missense_Mutation_p.G62S	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	62						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTTCGGAGGCCAGATCAC	0.597													25	102	---	---	---	---	PASS
KCNAB2	8514	broad.mit.edu	37	1	6155592	6155592	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6155592G>T	uc009vlv.1	+	13	847	c.712G>T	c.(712-714)GTG>TTG	p.V238L	KCNAB2_uc001alv.1_Missense_Mutation_p.V238L|KCNAB2_uc001alw.1_Missense_Mutation_p.V224L|KCNAB2_uc001alx.1_Missense_Mutation_p.V238L|KCNAB2_uc001aly.1_Missense_Mutation_p.V286L|KCNAB2_uc009vlw.1_Missense_Mutation_p.V171L|KCNAB2_uc001alu.2_Missense_Mutation_p.V238L	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	238						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCAGGAGTGGGCGCCAT	0.632													19	51	---	---	---	---	PASS
PLEKHG5	57449	broad.mit.edu	37	1	6526178	6526178	+	3'UTR	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6526178C>A	uc001ano.1	-	22					PLEKHG5_uc001ann.1_3'UTR|PLEKHG5_uc001anq.1_3'UTR|PLEKHG5_uc001anp.1_3'UTR|TNFRSF25_uc001ana.2_5'UTR|TNFRSF25_uc001anb.2_RNA|TNFRSF25_uc001anc.2_RNA|TNFRSF25_uc001and.2_5'UTR|TNFRSF25_uc009vlz.2_RNA|TNFRSF25_uc001ane.2_5'UTR|TNFRSF25_uc001anf.2_5'UTR|TNFRSF25_uc001ang.2_5'UTR|TNFRSF25_uc001anh.2_5'UTR|TNFRSF25_uc001ani.1_5'UTR|PLEKHG5_uc001anj.1_3'UTR|PLEKHG5_uc009vma.1_3'UTR|PLEKHG5_uc010nzr.1_3'UTR|PLEKHG5_uc001ank.1_3'UTR|PLEKHG5_uc009vmb.1_3'UTR|PLEKHG5_uc001anl.1_3'UTR|PLEKHG5_uc001anm.1_3'UTR	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|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)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCTCCGACGGGCGCCCAG	0.562													3	6	---	---	---	---	PASS
NOL9	79707	broad.mit.edu	37	1	6586794	6586794	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6586794C>T	uc001ans.2	-	11	1940	c.1921G>A	c.(1921-1923)GGA>AGA	p.G641R	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	641					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GCAATAGCTCCAACGAGCAGA	0.567													44	105	---	---	---	---	PASS
PER3	8863	broad.mit.edu	37	1	7887206	7887206	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7887206G>T	uc001aoo.2	+	17	2368	c.2193G>T	c.(2191-2193)TCG>TCT	p.S731S	PER3_uc009vmg.1_Silent_p.S739S|PER3_uc009vmh.1_Silent_p.S732S|PER3_uc001aop.2_Silent_p.S739S|PER3_uc010nzw.1_Silent_p.S420S	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	731	CSNK1E binding domain (By similarity).|Nuclear localization signal (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G733fs*115(1)		ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AGACGCGGTCGGCCGGCTGCA	0.557													6	26	---	---	---	---	PASS
ERRFI1	54206	broad.mit.edu	37	1	8073377	8073377	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8073377C>A	uc001aoz.2	-	4	1531	c.1282G>T	c.(1282-1284)GCT>TCT	p.A428S		NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	428					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCGCAGTCAGCAGGTAATGGC	0.433													28	79	---	---	---	---	PASS
SLC45A1	50651	broad.mit.edu	37	1	8384421	8384421	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8384421G>T	uc001apb.2	+	1	32	c.32G>T	c.(31-33)GGA>GTA	p.G11V		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	11					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCCGCCGGGAGATGCCCTC	0.677													23	70	---	---	---	---	PASS
FBXO44	93611	broad.mit.edu	37	1	11721303	11721303	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11721303C>T	uc001asm.2	+	6	867	c.741C>T	c.(739-741)AGC>AGT	p.S247S	FBXO44_uc001ask.2_Missense_Mutation_p.H206Y|FBXO44_uc001asl.2_Silent_p.S247S|FBXO44_uc001asn.2_Missense_Mutation_p.H206Y|FBXO44_uc010oar.1_Missense_Mutation_p.H238Y|FBXO44_uc010oas.1_Silent_p.S107S|FBXO6_uc001aso.2_5'Flank	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN	F-box protein 44 isoform 1	247	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAACAGCAGCATCACCATCG	0.637													27	60	---	---	---	---	PASS
KIAA2013	90231	broad.mit.edu	37	1	11983154	11983154	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11983154C>A	uc001atk.2	-	2	1620	c.1426G>T	c.(1426-1428)GTG>TTG	p.V476L	KIAA2013_uc001atl.1_Missense_Mutation_p.V476L	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	hypothetical protein LOC90231 precursor	476	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)		TTGTGCAGCACGTCGGGGTCG	0.612													13	48	---	---	---	---	PASS
PRAMEF1	65121	broad.mit.edu	37	1	12854133	12854133	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12854133C>A	uc001auj.1	+	3	460	c.357C>A	c.(355-357)GCC>GCA	p.A119A		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	119											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;0.0042)|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)		GGCCTGGAGCCTGGGCCCTGT	0.537													80	304	---	---	---	---	PASS
PRAMEF8	391002	broad.mit.edu	37	1	12979866	12979866	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12979866T>C	uc001aup.2	+	4	1141	c.1058T>C	c.(1057-1059)CTG>CCG	p.L353P		NM_001012276	NP_001012276	Q5VWM4	PRAM8_HUMAN	PRAME family member 8	353	LRR 2.										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)		CTGCAGACCCTGGACTTAGAG	0.592													12	72	---	---	---	---	PASS
CLCNKA	1187	broad.mit.edu	37	1	16353885	16353885	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16353885G>A	uc001axu.2	+	8	816	c.736G>A	c.(736-738)GGG>AGG	p.G246R	CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.G246R|CLCNKA_uc010obw.1_Missense_Mutation_p.G203R|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	chloride channel Ka isoform 1	246	Helical; (Potential).				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(1)	1		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;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCCACCTGCGGGGCCTTCAT	0.657													46	97	---	---	---	---	PASS
CLCNKB	1188	broad.mit.edu	37	1	16380124	16380124	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16380124C>A	uc001axw.3	+						FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Intron|CLCNKB_uc001axy.3_Intron	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1						excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			skin(1)	1		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;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGCCCCTCTGCCTGCAGT	0.627													16	60	---	---	---	---	PASS
CROCC	9696	broad.mit.edu	37	1	17266410	17266410	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17266410G>T	uc001azt.2	+	13	1699	c.1630G>T	c.(1630-1632)GCA>TCA	p.A544S	CROCC_uc009voy.1_Missense_Mutation_p.A247S|CROCC_uc009voz.1_Missense_Mutation_p.A307S|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	544					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCGCTATGAGGCAAGCCAGGA	0.657													6	59	---	---	---	---	PASS
CROCC	9696	broad.mit.edu	37	1	17296397	17296397	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17296397G>C	uc001azt.2	+	33	5488	c.5419G>C	c.(5419-5421)GAG>CAG	p.E1807Q	CROCC_uc001azu.2_Missense_Mutation_p.E1110Q|CROCC_uc001azv.2_Missense_Mutation_p.E143Q	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	1807					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGCGGGTGGAGGCCGAGGG	0.662													10	32	---	---	---	---	PASS
RCC2	55920	broad.mit.edu	37	1	17739593	17739593	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17739593C>A	uc001bal.2	-	9	1336	c.1289G>T	c.(1288-1290)TGG>TTG	p.W430L	RCC2_uc001bam.2_Missense_Mutation_p.W430L	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	430	RCC1 6.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CCGGATTCTCCAGCCGCAGAG	0.567													13	32	---	---	---	---	PASS
TMCO4	255104	broad.mit.edu	37	1	20067393	20067393	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20067393C>A	uc001bcn.2	-	11	1161	c.919G>T	c.(919-921)GAG>TAG	p.E307*	TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Nonsense_Mutation_p.E307*|TMCO4_uc001bcp.1_Nonsense_Mutation_p.E267*	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	307						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTACTGCTCACGGCTGTGG	0.632													3	47	---	---	---	---	PASS
KIF17	57576	broad.mit.edu	37	1	21042056	21042056	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21042056C>A	uc001bdr.3	-	2	426	c.308G>T	c.(307-309)GGC>GTC	p.G103V	KIF17_uc001bds.3_Missense_Mutation_p.G103V	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	103	Kinesin-motor.				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)		ATCCGGCAGGCCCTGCATGGT	0.657													26	67	---	---	---	---	PASS
EIF4G3	8672	broad.mit.edu	37	1	21144032	21144032	+	Splice_Site	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21144032C>G	uc001bec.2	-	29	4457	c.4201_splice	c.e29-1	p.K1401_splice	EIF4G3_uc010odi.1_Splice_Site_p.K1005_splice|EIF4G3_uc010odj.1_Splice_Site_p.K1400_splice|EIF4G3_uc009vpz.2_Splice_Site_p.K1121_splice|EIF4G3_uc001bed.2_Splice_Site_p.K1401_splice|EIF4G3_uc001bef.2_Splice_Site_p.K1437_splice|EIF4G3_uc001bee.2_Splice_Site_p.K1407_splice	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4						interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGTCCAACTTCTGAAACATAA	0.363													18	54	---	---	---	---	PASS
CELA3B	23436	broad.mit.edu	37	1	22307651	22307651	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22307651G>C	uc001bfk.2	+	4	463	c.348G>C	c.(346-348)TCG>TCC	p.S116S	CELA3B_uc009vqf.2_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	elastase 3B, pancreatic preproprotein	116	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						GGAACCGCTCGTGTGTGGCCT	0.592													28	91	---	---	---	---	PASS
EPHA8	2046	broad.mit.edu	37	1	22921766	22921766	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22921766G>T	uc001bfx.1	+	8	1772	c.1647G>T	c.(1645-1647)ACG>ACT	p.T549T		NM_020526	NP_065387	P29322	EPHA8_HUMAN	ephrin receptor EphA8 isoform 1 precursor	549	Helical; (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTGCCTGACGCTCATCACGG	0.647													8	33	---	---	---	---	PASS
LUZP1	7798	broad.mit.edu	37	1	23420350	23420350	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23420350G>A	uc001bgk.2	-	4	789	c.405C>T	c.(403-405)ACC>ACT	p.T135T	LUZP1_uc010odv.1_Silent_p.T135T|LUZP1_uc001bgl.2_Silent_p.T135T|LUZP1_uc001bgm.1_Silent_p.T135T	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	135	Potential.					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)		GACACAGCTGGGTACAGTCAT	0.463													29	82	---	---	---	---	PASS
HNRNPR	10236	broad.mit.edu	37	1	23637164	23637164	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23637164C>T	uc001bgr.3	-	11	1844	c.1685G>A	c.(1684-1686)CGG>CAG	p.R562Q	HNRNPR_uc001bgo.2_Missense_Mutation_p.R172Q|HNRNPR_uc001bgp.3_Missense_Mutation_p.R565Q|HNRNPR_uc009vqk.2_Missense_Mutation_p.R464Q|HNRNPR_uc001bgs.3_Missense_Mutation_p.R461Q|HNRNPR_uc010odw.1_Missense_Mutation_p.R524Q|HNRNPR_uc010odx.1_Missense_Mutation_p.R402Q|HNRNPR_uc009vql.2_Missense_Mutation_p.R423Q	NM_005826	NP_005817	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	562	RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ACGATTGCCCCGAGATCCACG	0.587													35	136	---	---	---	---	PASS
IL22RA1	58985	broad.mit.edu	37	1	24465216	24465216	+	Intron	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24465216T>G	uc001biq.1	-						IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.1_Intron|IL22RA1_uc010oeh.1_Intron	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor							integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGCAGGAGGGTGGGAGGAGGG	0.577													7	13	---	---	---	---	PASS
SEPN1	57190	broad.mit.edu	37	1	26142208	26142208	+	Nonstop_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26142208A>G	uc010oer.1	+	16	1827	c.1772A>G	c.(1771-1773)TAG>TGG	p.*591W	SEPN1_uc010oes.1_Nonstop_Mutation_p.*557W	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	591						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGCCCTAGAGTGCCTGG	0.632													37	94	---	---	---	---	PASS
PAQR7	164091	broad.mit.edu	37	1	26189347	26189347	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26189347G>A	uc001bkx.2	-	2	1651	c.984C>T	c.(982-984)CTC>CTT	p.L328L		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	328	Helical; Name=7; (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGAATGCAGTGAGGATGCTGC	0.577													26	54	---	---	---	---	PASS
EXTL1	2134	broad.mit.edu	37	1	26349777	26349777	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26349777C>A	uc001blf.2	+	1	1507	c.640C>A	c.(640-642)CAG>AAG	p.Q214K		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	214	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCTGGCCAGCTGCGGCA	0.697													7	24	---	---	---	---	PASS
SLC9A1	6548	broad.mit.edu	37	1	27434310	27434310	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27434310T>A	uc001bnm.2	-	4	1737	c.1111A>T	c.(1111-1113)ATC>TTC	p.I371F	SLC9A1_uc010ofk.1_Missense_Mutation_p.I32F|SLC9A1_uc001bnn.2_Missense_Mutation_p.I371F	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	371	Extracellular (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTGTGGGAGATGTTGGCCTCC	0.597													7	7	---	---	---	---	PASS
FCN3	8547	broad.mit.edu	37	1	27700903	27700903	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27700903G>T	uc001boa.2	-	2	137	c.131C>A	c.(130-132)CCC>CAC	p.P44H	FCN3_uc001bob.2_Missense_Mutation_p.P44H	NM_003665	NP_003656	O75636	FCN3_HUMAN	ficolin 3 isoform 1 precursor	44					complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding				0		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGACAACTGGGCAGGAGGAC	0.622													14	60	---	---	---	---	PASS
BAI2	576	broad.mit.edu	37	1	32196882	32196882	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32196882C>A	uc001btn.2	-	29	4253	c.3899G>T	c.(3898-3900)GGG>GTG	p.G1300V	BAI2_uc001btm.2_Missense_Mutation_p.G294V|BAI2_uc001btp.1_Missense_Mutation_p.G294V|BAI2_uc010ogn.1_Missense_Mutation_p.G270V|BAI2_uc010ogo.1_Missense_Mutation_p.G909V|BAI2_uc010ogp.1_Missense_Mutation_p.G1233V|BAI2_uc010ogq.1_Missense_Mutation_p.G1267V|BAI2_uc001bto.2_Missense_Mutation_p.G1300V	NM_001703	NP_001694	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1300	Cytoplasmic (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)		CAGGATATTCCCAGGCAGTGG	0.657													6	16	---	---	---	---	PASS
SPOCD1	90853	broad.mit.edu	37	1	32259485	32259485	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32259485C>T	uc001bts.1	-	12	2455	c.2397G>A	c.(2395-2397)TCG>TCA	p.S799S	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btt.2_Silent_p.S104S|SPOCD1_uc001btu.2_Silent_p.S799S|SPOCD1_uc001btv.2_Silent_p.S292S	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	799					transcription, DNA-dependent					ovary(5)|breast(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCAGCTCATTCGAGGGCTCCC	0.582													49	176	---	---	---	---	PASS
CSMD2	114784	broad.mit.edu	37	1	34006158	34006158	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34006158C>T	uc001bxn.1	-	59	9195	c.9166G>A	c.(9166-9168)GGG>AGG	p.G3056R	CSMD2_uc001bxm.1_Missense_Mutation_p.G3200R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3056	Sushi 23.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCAGGACCCATTTCCCTCA	0.587													34	98	---	---	---	---	PASS
EIF2C4	192670	broad.mit.edu	37	1	36298081	36298081	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36298081G>T	uc001bzj.1	+	11	1479	c.1289G>T	c.(1288-1290)CGA>CTA	p.R430L		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	eukaryotic translation initiation factor 2C, 4	430					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGGACATGCGAGGAAAGCAG	0.318													26	62	---	---	---	---	PASS
CSF3R	1441	broad.mit.edu	37	1	36939205	36939205	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36939205C>A	uc001caw.1	-	6	682	c.504G>T	c.(502-504)CAG>CAT	p.Q168H	CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.Q168H|CSF3R_uc001cax.1_Missense_Mutation_p.Q168H|CSF3R_uc001cay.1_Missense_Mutation_p.Q168H	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	168	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCCCTTGGGTCTGACAGTTGC	0.607													17	27	---	---	---	---	PASS
CSF3R	1441	broad.mit.edu	37	1	36941175	36941175	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36941175A>T	uc001caw.1	-	4	342	c.164T>A	c.(163-165)CTG>CAG	p.L55Q	CSF3R_uc001cav.1_Missense_Mutation_p.L55Q|CSF3R_uc001cax.1_Missense_Mutation_p.L55Q|CSF3R_uc001cay.1_Missense_Mutation_p.L55Q	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	55	Ig-like C2-type.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTCCGGGTCCAGATGGCTGCA	0.612													17	47	---	---	---	---	PASS
SNIP1	79753	broad.mit.edu	37	1	38005790	38005790	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38005790A>T	uc001cbi.2	-	3	967	c.894T>A	c.(892-894)TCT>TCA	p.S298S	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	298	FHA.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)				GCTTTGAACAAGACGGGTGAT	0.438													53	127	---	---	---	---	PASS
MACF1	23499	broad.mit.edu	37	1	39916832	39916832	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39916832G>T	uc010oiu.1	+	50	15827	c.15696G>T	c.(15694-15696)CAG>CAT	p.Q5232H	MACF1_uc010ois.1_Missense_Mutation_p.Q4730H	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)			CTGAGGACCAGCCCGTGCACG	0.547													18	56	---	---	---	---	PASS
RLF	6018	broad.mit.edu	37	1	40701552	40701552	+	Nonsense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40701552C>G	uc001cfc.3	+	8	1209	c.1178C>G	c.(1177-1179)TCA>TGA	p.S393*	RLF_uc001cfd.3_Nonsense_Mutation_p.S84*	NM_012421	NP_036553	Q13129	RLF_HUMAN	rearranged L-myc fusion	393					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			ovary(2)|pancreas(1)	3	Lung NSC(20;4.38e-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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATGAAGGCATCAGTTTGTAAA	0.393													36	82	---	---	---	---	PASS
DEM1	64789	broad.mit.edu	37	1	40981204	40981204	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40981204C>T	uc001cfp.2	+	3	1193	c.988C>T	c.(988-990)CGA>TGA	p.R330*	DEM1_uc001cfq.2_Nonsense_Mutation_p.R330*|DEM1_uc001cfr.2_Nonsense_Mutation_p.R330*|DEM1_uc001cfs.2_Nonsense_Mutation_p.R330*	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	330							DNA binding|exonuclease activity				0						GATGGGCCACCGAGAGCCCCA	0.557													12	43	---	---	---	---	PASS
DEM1	64789	broad.mit.edu	37	1	40981278	40981278	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40981278G>T	uc001cfp.2	+	3	1267	c.1062G>T	c.(1060-1062)TGG>TGT	p.W354C	DEM1_uc001cfq.2_Missense_Mutation_p.W354C|DEM1_uc001cfr.2_Missense_Mutation_p.W354C|DEM1_uc001cfs.2_Missense_Mutation_p.W354C	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	defects in morphology 1 homolog	354							DNA binding|exonuclease activity				0						TTTGTGAGTGGAGAAAGGGCA	0.517													14	67	---	---	---	---	PASS
EBNA1BP2	10969	broad.mit.edu	37	1	43632543	43632543	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43632543C>A	uc001cin.2	-	7	858	c.661G>T	c.(661-663)GCA>TCA	p.A221S	EBNA1BP2_uc001cio.2_Missense_Mutation_p.A276S|EBNA1BP2_uc001cim.2_Missense_Mutation_p.A116S|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.A276S	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	221					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGCGCTGTGCCAGAGGTTTC	0.473													28	83	---	---	---	---	PASS
MPL	4352	broad.mit.edu	37	1	43805701	43805701	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43805701T>C	uc001ciw.2	+	5	802	c.757T>C	c.(757-759)TGG>CGG	p.W253R	MPL_uc001civ.2_Missense_Mutation_p.W253R|MPL_uc009vwr.2_Missense_Mutation_p.W246R	NM_005373	NP_005364	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	253	Extracellular (Potential).				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAACTCCTACTGGCTGCAGCT	0.597			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						17	51	---	---	---	---	PASS
PTPRF	5792	broad.mit.edu	37	1	44085828	44085828	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44085828G>T	uc001cjr.2	+	30	5514	c.5174G>T	c.(5173-5175)CGC>CTC	p.R1725L	PTPRF_uc001cjs.2_Missense_Mutation_p.R1716L|PTPRF_uc001cju.2_Missense_Mutation_p.R1114L|PTPRF_uc009vwt.2_Missense_Mutation_p.R1285L|PTPRF_uc001cjv.2_Missense_Mutation_p.R1196L|PTPRF_uc001cjw.2_Missense_Mutation_p.R951L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1725	Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACTTCTGGCGCATGCTATGG	0.592													44	96	---	---	---	---	PASS
KIF2C	11004	broad.mit.edu	37	1	45232789	45232789	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45232789C>A	uc001cmg.3	+	21	2231	c.2116C>A	c.(2116-2118)CTG>ATG	p.L706M	KIF2C_uc010olb.1_Missense_Mutation_p.L665M|KIF2C_uc010olc.1_Missense_Mutation_p.L593M|KIF2C_uc001cmh.3_Missense_Mutation_p.L652M	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	kinesin family member 2C	706					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					GGCCTTGCGCCTGGCCATGCA	0.527													31	120	---	---	---	---	PASS
ZCCHC11	23318	broad.mit.edu	37	1	52956403	52956403	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52956403C>A	uc001ctx.2	-	8	1622	c.1388_splice	c.e8+1	p.S463_splice	ZCCHC11_uc001cty.2_Splice_Site_p.S463_splice|ZCCHC11_uc001ctz.2_Splice_Site_p.S463_splice|ZCCHC11_uc009vze.1_Splice_Site_p.S463_splice|ZCCHC11_uc009vzf.1_Splice_Site_p.S222_splice|ZCCHC11_uc001cub.2_Splice_Site_p.S463_splice|ZCCHC11_uc001cuc.2_Splice_Site	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform						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						TTGTTACCAACCTTTTTCGAT	0.294													17	52	---	---	---	---	PASS
HSPB11	51668	broad.mit.edu	37	1	54395743	54395743	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54395743C>A	uc001cwh.2	-	3	250	c.174G>T	c.(172-174)AGG>AGT	p.R58S	HSPB11_uc001cwi.1_Missense_Mutation_p.R58S	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	58					cell adhesion|response to stress						0						GCCTTTCAATCCTTACATGTT	0.303													48	104	---	---	---	---	PASS
C8A	731	broad.mit.edu	37	1	57340725	57340725	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57340725G>A	uc001cyo.2	+	3	407	c.275G>A	c.(274-276)AGG>AAG	p.R92K		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	92					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						ACTTGTGTAAGGCAAGCACAG	0.433													16	16	---	---	---	---	PASS
DAB1	1600	broad.mit.edu	37	1	57602255	57602255	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57602255G>A	uc001cys.1	-	6	941	c.267C>T	c.(265-267)ATC>ATT	p.I89I	DAB1_uc001cyt.1_Silent_p.I89I|DAB1_uc001cyq.1_Silent_p.I89I|DAB1_uc001cyr.1_Silent_p.I89I|DAB1_uc009vzw.1_Silent_p.I89I|DAB1_uc009vzx.1_Silent_p.I89I	NM_021080	NP_066566	O75553	DAB1_HUMAN	disabled homolog 1	89	PID.				cell differentiation|nervous system development					skin(2)|ovary(1)	3						CTCCAAAGGAGATGGTTAAAA	0.378													14	57	---	---	---	---	PASS
INADL	10207	broad.mit.edu	37	1	62365243	62365243	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62365243C>T	uc001dab.2	+						INADL_uc009waf.1_Intron|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Intron|INADL_uc001dac.2_Intron	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						TTTTTTCTTTCTCCCTCTGTA	0.368													44	140	---	---	---	---	PASS
INADL	10207	broad.mit.edu	37	1	62593659	62593659	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62593659C>G	uc001dab.2	+	40	5173	c.5059C>G	c.(5059-5061)CTT>GTT	p.L1687V	INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.L471V	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	InaD-like	1687	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4						CAGTGATGCCCTTGGAATCAG	0.428													21	64	---	---	---	---	PASS
KANK4	163782	broad.mit.edu	37	1	62718789	62718789	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62718789C>T	uc001dah.3	-	8	3009	c.2632G>A	c.(2632-2634)GTT>ATT	p.V878I	KANK4_uc001dai.3_Missense_Mutation_p.V250I|KANK4_uc001daf.3_Missense_Mutation_p.V16I|KANK4_uc001dag.3_Missense_Mutation_p.V234I	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	878	ANK 2.									ovary(3)|skin(2)|lung(1)	6						TTCCAGACAACAGCCATGTCT	0.498													28	67	---	---	---	---	PASS
KANK4	163782	broad.mit.edu	37	1	62734158	62734158	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62734158C>T	uc001dah.3	-	5	2409	c.2032G>A	c.(2032-2034)GAG>AAG	p.E678K	KANK4_uc001dai.3_Missense_Mutation_p.E50K|KANK4_uc001dag.3_Missense_Mutation_p.E34K	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	678										ovary(3)|skin(2)|lung(1)	6						CTGGTCTCCTCACTTGAGGTG	0.562													17	46	---	---	---	---	PASS
ROR1	4919	broad.mit.edu	37	1	64606046	64606046	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64606046G>C	uc001dbj.2	+	6	1264	c.865G>C	c.(865-867)GAG>CAG	p.E289Q	ROR1_uc001dbi.3_Missense_Mutation_p.E289Q|uc001dbl.2_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	289	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						CCCCCAGCCAGAGAGCCCAGA	0.463													15	78	---	---	---	---	PASS
DEPDC1	55635	broad.mit.edu	37	1	68947132	68947132	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68947132C>A	uc001dem.3	-	9	2043	c.1926G>T	c.(1924-1926)ACG>ACT	p.T642T	DEPDC1_uc001dej.3_Silent_p.T10T|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.T358T	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	642	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CCAGTGACCTCGTACCCATTG	0.358													11	41	---	---	---	---	PASS
LRRC7	57554	broad.mit.edu	37	1	70541817	70541817	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70541817G>T	uc001dep.2	+	22	4204	c.4174G>T	c.(4174-4176)GAG>TAG	p.E1392*	LRRC7_uc009wbg.2_Nonsense_Mutation_p.E676*|LRRC7_uc001deq.2_Nonsense_Mutation_p.E586*	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1392						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TCGCAGCCGGGAGCAGCAGCC	0.527													16	53	---	---	---	---	PASS
C1orf173	127254	broad.mit.edu	37	1	75036790	75036790	+	3'UTR	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75036790C>T	uc001dgg.2	-	14						NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254											ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CACTGTCTGCCAGCAAGTCTC	0.512													15	93	---	---	---	---	PASS
C1orf173	127254	broad.mit.edu	37	1	75036891	75036891	+	Silent	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75036891A>C	uc001dgg.2	-	14	4722	c.4503T>G	c.(4501-4503)CCT>CCG	p.P1501P		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1501										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CAGTGAAATCAGGCTTCACTG	0.507													51	142	---	---	---	---	PASS
SLC44A5	204962	broad.mit.edu	37	1	75679682	75679682	+	Intron	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75679682T>A	uc001dgu.2	-						SLC44A5_uc001dgt.2_Intron|SLC44A5_uc001dgs.2_Intron|SLC44A5_uc001dgr.2_Intron|SLC44A5_uc010oqz.1_Intron|SLC44A5_uc010ora.1_Intron|SLC44A5_uc010orb.1_Intron	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A							integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						ACTCTGAGTATCAGAAAAAAA	0.303													30	112	---	---	---	---	PASS
SLC44A5	204962	broad.mit.edu	37	1	75684269	75684269	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75684269G>C	uc001dgu.2	-	17	1579	c.1435C>G	c.(1435-1437)CTT>GTT	p.L479V	SLC44A5_uc001dgt.2_Missense_Mutation_p.L479V|SLC44A5_uc001dgs.2_Missense_Mutation_p.L437V|SLC44A5_uc001dgr.2_Missense_Mutation_p.L437V|SLC44A5_uc010oqz.1_Missense_Mutation_p.L518V|SLC44A5_uc010ora.1_Missense_Mutation_p.L473V|SLC44A5_uc010orb.1_Missense_Mutation_p.L349V	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	479	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						GCACCAGCAAGGGCGCACTGA	0.428													40	110	---	---	---	---	PASS
AK5	26289	broad.mit.edu	37	1	77759493	77759493	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77759493C>A	uc001dhn.2	+	3	520	c.263C>A	c.(262-264)TCA>TAA	p.S88*	AK5_uc001dho.2_Nonsense_Mutation_p.S62*|AK5_uc001dhm.1_Intron	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5 isoform 1	88					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						CCTGAAAACTCAAACTTTCCA	0.388													18	54	---	---	---	---	PASS
ELTD1	64123	broad.mit.edu	37	1	79383371	79383371	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:79383371G>T	uc001diq.3	-	12	1853	c.1697C>A	c.(1696-1698)ACC>AAC	p.T566N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	566	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTTGTTTTCGGTGCTAAGCCA	0.274													10	41	---	---	---	---	PASS
CLCA2	9635	broad.mit.edu	37	1	86919105	86919105	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86919105C>A	uc001dlr.3	+	13	2371	c.2209C>A	c.(2209-2211)CGA>AGA	p.R737R		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2 precursor	737	Extracellular (Potential).				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			ovary(1)|breast(1)|skin(1)	3		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGAGGAGGAGCGAAAGTGGGG	0.448													14	75	---	---	---	---	PASS
PKN2	5586	broad.mit.edu	37	1	89279243	89279243	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89279243G>T	uc001dmn.2	+	16	2448	c.2106G>T	c.(2104-2106)CTG>CTT	p.L702L	PKN2_uc010osp.1_Silent_p.L686L|PKN2_uc010osq.1_Silent_p.L545L|PKN2_uc009wcv.2_Silent_p.L654L|PKN2_uc010osr.1_Silent_p.L367L	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	702	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTACAGCCTGATGTGTGAAA	0.269													24	82	---	---	---	---	PASS
LRRC8B	23507	broad.mit.edu	37	1	90049959	90049959	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90049959A>G	uc001dni.2	+	7	2257	c.1750A>G	c.(1750-1752)ATG>GTG	p.M584V	LRRC8B_uc001dnh.2_Missense_Mutation_p.M584V|LRRC8B_uc001dnj.2_Missense_Mutation_p.M584V	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member	584						integral to membrane				ovary(2)	2		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CTTGAAAAAGATGGTCAATCT	0.443													16	39	---	---	---	---	PASS
BRDT	676	broad.mit.edu	37	1	92441951	92441951	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92441951G>C	uc001dok.3	+	5	923	c.574G>C	c.(574-576)GTA>CTA	p.V192L	BRDT_uc001dol.3_Missense_Mutation_p.V192L|BRDT_uc010osz.1_Missense_Mutation_p.V196L|BRDT_uc009wdf.2_Missense_Mutation_p.V119L|BRDT_uc010ota.1_Missense_Mutation_p.V146L|BRDT_uc010otb.1_Missense_Mutation_p.V146L|BRDT_uc001dom.3_Missense_Mutation_p.V192L	NM_207189	NP_997072	Q58F21	BRDT_HUMAN	testis-specific bromodomain protein	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			stomach(2)|ovary(1)|lung(1)	4		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTTGAACGTGGTACAGGGAGC	0.373													20	69	---	---	---	---	PASS
BCAR3	8412	broad.mit.edu	37	1	94107909	94107909	+	Intron	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94107909G>C	uc001dpz.2	-						BCAR3_uc001dqa.2_Intron|BCAR3_uc001dqb.2_Intron	NM_003567	NP_003558	O75815	BCAR3_HUMAN	breast cancer antiestrogen resistance 3						response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CCTGAAAAGAGAAAATATAAA	0.393													25	72	---	---	---	---	PASS
ABCA4	24	broad.mit.edu	37	1	94502905	94502905	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94502905C>A	uc001dqh.2	-	25	3713	c.3609G>T	c.(3607-3609)GGG>GGT	p.G1203G		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	1203	Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTTACATCCCCTAGGACAA	0.443													28	68	---	---	---	---	PASS
RWDD3	25950	broad.mit.edu	37	1	95709926	95709926	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:95709926C>G	uc009wdu.2	+	2	321	c.245C>G	c.(244-246)ACT>AGT	p.T82S	RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Missense_Mutation_p.T67S|RWDD3_uc009wdt.2_Missense_Mutation_p.T82S|RWDD3_uc001drf.3_Missense_Mutation_p.T82S|RWDD3_uc001drh.3_Missense_Mutation_p.T67S|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.T82S	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3 isoform a	82	RWD.					cytoplasm|nucleus	protein binding			ovary(1)	1		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CAGTGTGTGACTGTGAAAGAG	0.458													26	88	---	---	---	---	PASS
VCAM1	7412	broad.mit.edu	37	1	101190441	101190441	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101190441T>C	uc001dti.2	+	4	1043	c.923T>C	c.(922-924)GTT>GCT	p.V308A	VCAM1_uc001dtj.2_Missense_Mutation_p.V308A|VCAM1_uc010ouj.1_Missense_Mutation_p.V246A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	308	Ig-like C2-type 3.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAATTAATTGTTCAAGGTGAG	0.373													15	34	---	---	---	---	PASS
COL11A1	1301	broad.mit.edu	37	1	103347304	103347304	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103347304C>G	uc001dul.2	-	65	5307	c.4989G>C	c.(4987-4989)TGG>TGC	p.W1663C	COL11A1_uc001duk.2_Missense_Mutation_p.W859C|COL11A1_uc001dum.2_Missense_Mutation_p.W1675C|COL11A1_uc001dun.2_Missense_Mutation_p.W1624C|COL11A1_uc009weh.2_Missense_Mutation_p.W1547C	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1663	Fibrillar collagen NC1.				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)		TCTCCTTTGGCCATGATGAAA	0.318													12	52	---	---	---	---	PASS
COL11A1	1301	broad.mit.edu	37	1	103428316	103428316	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103428316C>A	uc001dul.2	-	39	3235	c.2917G>T	c.(2917-2919)GGA>TGA	p.G973*	COL11A1_uc001duk.2_Nonsense_Mutation_p.G169*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G985*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G934*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G857*	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	973	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)		CCGGTTGGTCCCTAAATTAGA	0.428													22	64	---	---	---	---	PASS
COL11A1	1301	broad.mit.edu	37	1	103444657	103444657	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103444657C>A	uc001dul.2	-	33	2932	c.2614G>T	c.(2614-2616)GTA>TTA	p.V872L	COL11A1_uc001duk.2_Missense_Mutation_p.V68L|COL11A1_uc001dum.2_Missense_Mutation_p.V884L|COL11A1_uc001dun.2_Missense_Mutation_p.V833L|COL11A1_uc009weh.2_Missense_Mutation_p.V756L	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	872	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)		TTGCCAGCTACTCCCTAGCAA	0.393													15	56	---	---	---	---	PASS
COL11A1	1301	broad.mit.edu	37	1	103444981	103444981	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103444981C>A	uc001dul.2	-	32	2885	c.2567G>T	c.(2566-2568)GGA>GTA	p.G856V	COL11A1_uc001duk.2_Missense_Mutation_p.G52V|COL11A1_uc001dum.2_Missense_Mutation_p.G868V|COL11A1_uc001dun.2_Missense_Mutation_p.G817V|COL11A1_uc009weh.2_Missense_Mutation_p.G740V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	856	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)		CCCAGGGAATCCAGTGGAACC	0.308													16	58	---	---	---	---	PASS
PSRC1	84722	broad.mit.edu	37	1	109824326	109824326	+	Missense_Mutation	SNP	G	A	A	rs148605172		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109824326G>A	uc001dxg.2	-	4	556	c.434C>T	c.(433-435)ACG>ATG	p.T145M	PSRC1_uc001dxb.2_Translation_Start_Site|PSRC1_uc001dxc.2_Missense_Mutation_p.T145M|PSRC1_uc001dxd.2_Missense_Mutation_p.T145M|PSRC1_uc001dxe.2_Missense_Mutation_p.T145M|PSRC1_uc001dxf.2_Missense_Mutation_p.T145M|PSRC1_uc001dxh.2_Missense_Mutation_p.T145M|PSRC1_uc001dxi.2_Missense_Mutation_p.T145M|PSRC1_uc001dxj.2_Missense_Mutation_p.T145M	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1 isoform c	145	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding				0		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GAGTCGAGGCGTCAGGCTGCT	0.592													6	131	---	---	---	---	PASS
KCNA2	3737	broad.mit.edu	37	1	111147092	111147092	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111147092G>T	uc001dzu.2	-	2	809	c.313C>A	c.(313-315)CCC>ACC	p.P105T	KCNA2_uc009wfv.1_Missense_Mutation_p.P105T|KCNA2_uc009wfw.2_Missense_Mutation_p.P105T	NM_004974	NP_004965	P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related	105						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(1)	1		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATATCTAAGGGCACATTCACA	0.478													20	45	---	---	---	---	PASS
CAPZA1	829	broad.mit.edu	37	1	113197267	113197267	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113197267G>A	uc001ecj.1	+	5	792	c.400G>A	c.(400-402)GAC>AAC	p.D134N		NM_006135	NP_006126	P52907	CAZA1_HUMAN	F-actin capping protein alpha-1 subunit	134					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATGTGAAAGACCATTATTC	0.438													55	166	---	---	---	---	PASS
AMPD1	270	broad.mit.edu	37	1	115220052	115220052	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115220052C>A	uc001efe.1	-	10	1392	c.1308G>T	c.(1306-1308)TGG>TGT	p.W436C	AMPD1_uc001eff.1_Missense_Mutation_p.W432C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	436					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGAGTTTGCTCCACTCATCAG	0.567													28	90	---	---	---	---	PASS
SPAG17	200162	broad.mit.edu	37	1	118623765	118623765	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118623765T>A	uc001ehk.2	-	15	2236	c.2168A>T	c.(2167-2169)CAG>CTG	p.Q723L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	723						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGCTCTCCTGCTCTAACAG	0.343													48	135	---	---	---	---	PASS
TBX15	6913	broad.mit.edu	37	1	119427626	119427626	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119427626T>C	uc001ehl.1	-	8	1535	c.1220A>G	c.(1219-1221)AAC>AGC	p.N407S	TBX15_uc009whj.1_Missense_Mutation_p.N231S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	T-box 15	513						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTTGTAAGGGTTGTGAAGGGA	0.532													12	28	---	---	---	---	PASS
HSD3B2	3284	broad.mit.edu	37	1	119965138	119965138	+	Silent	SNP	G	T	T	rs116342586	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119965138G>T	uc001ehs.2	+	3	1787	c.1014G>T	c.(1012-1014)GCG>GCT	p.A338A	HSD3B2_uc001eht.2_Silent_p.A338A|HSD3B2_uc001ehu.2_Intron	NM_000198	NP_000189	P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase 2	338					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GAGATCTGGCGTATAAGCCAC	0.517													18	47	---	---	---	---	PASS
NBPF7	343505	broad.mit.edu	37	1	120384192	120384192	+	Silent	SNP	G	T	T	rs6656217		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120384192G>T	uc010oxk.1	-	3	991	c.370C>A	c.(370-372)CGA>AGA	p.R124R		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	124	Potential.					cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		ATCAGCTCTCGTTCCTGAGAG	0.448													55	151	---	---	---	---	PASS
PPIAL4G	644591	broad.mit.edu	37	1	143767487	143767487	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:143767487C>T	uc001ejt.2	-	1	395	c.362G>A	c.(361-363)TGG>TAG	p.W121*		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	121	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0						GCCATCCAACCACTCAGTCTT	0.488													78	515	---	---	---	---	PASS
PDE4DIP	9659	broad.mit.edu	37	1	144871797	144871797	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144871797C>A	uc001elw.3	-	32	5456	c.5165G>T	c.(5164-5166)AGC>ATC	p.S1722I	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.S729I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1722					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)		GCCAGTGGGGCTGAAAGGCAG	0.552			T	PDGFRB	MPD								82	166	---	---	---	---	PASS
NOTCH2NL	388677	broad.mit.edu	37	1	145281564	145281564	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145281564C>T	uc001emn.3	+	4	864	c.494C>T	c.(493-495)TCC>TTC	p.S165F	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.S165F|NOTCH2NL_uc001emo.2_Missense_Mutation_p.S165F|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	165	EGF-like 5; calcium-binding (Potential).				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						CTGCCTGGTTCCTACCAGTGC	0.577													28	239	---	---	---	---	PASS
BOLA1	51027	broad.mit.edu	37	1	149871789	149871789	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149871789G>C	uc001etf.2	+	2	298	c.177G>C	c.(175-177)GCG>GCC	p.A59A		NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	bolA-like 1	59						extracellular region	protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTGGCCACGCGGTCCCGCCTG	0.682													16	45	---	---	---	---	PASS
OTUD7B	56957	broad.mit.edu	37	1	149943093	149943093	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149943093C>G	uc001etn.2	-	3	528	c.172G>C	c.(172-174)GAG>CAG	p.E58Q	OTUD7B_uc001eto.2_Silent_p.V23V	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	zinc finger protein Cezanne	58					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCACTCCCCTCACTAAAGGAT	0.542													55	71	---	---	---	---	PASS
ANXA9	8416	broad.mit.edu	37	1	150958880	150958880	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150958880G>T	uc001ewa.2	+	8	1011	c.541G>T	c.(541-543)GCC>TCC	p.A181S		NM_003568	NP_003559	O76027	ANXA9_HUMAN	annexin A9	181	Annexin 2.				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity				0	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			CCTGCTGTTGGCCCTGGCCAA	0.577													25	48	---	---	---	---	PASS
GABPB2	126626	broad.mit.edu	37	1	151070370	151070370	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151070370A>T	uc001ewr.2	+	5	845	c.514A>T	c.(514-516)AAC>TAC	p.N172Y	GABPB2_uc010pcp.1_Missense_Mutation_p.N188Y|GABPB2_uc001ews.2_Missense_Mutation_p.N132Y|GABPB2_uc001ewt.2_Missense_Mutation_p.N71Y	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	GA repeat binding protein, beta 2	172					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding				0				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGAGAGAGCCAACCCTGTGAC	0.413													48	102	---	---	---	---	PASS
TCHHL1	126637	broad.mit.edu	37	1	152057894	152057894	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152057894G>T	uc001ezo.1	-	3	2329	c.2264C>A	c.(2263-2265)GCA>GAA	p.A755E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	755							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACCTTCTCCTGCCAGCTCTTG	0.473													116	263	---	---	---	---	PASS
TCHHL1	126637	broad.mit.edu	37	1	152058212	152058212	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152058212G>T	uc001ezo.1	-	3	2011	c.1946C>A	c.(1945-1947)CCC>CAC	p.P649H		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	649							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTCCATTGGGCTCCACAGC	0.537													108	193	---	---	---	---	PASS
TCHH	7062	broad.mit.edu	37	1	152083673	152083673	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152083673G>C	uc001ezp.2	-	2	2020	c.2020C>G	c.(2020-2022)CGC>GGC	p.R674G	TCHH_uc009wne.1_Missense_Mutation_p.R674G	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	674	9 X 28 AA approximate tandem repeats.				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)			TCATGCTCGCGCTTCAGCCGC	0.657													48	71	---	---	---	---	PASS
HRNR	388697	broad.mit.edu	37	1	152193146	152193146	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152193146G>T	uc001ezt.1	-	3	1035	c.959C>A	c.(958-960)TCC>TAC	p.S320Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	320	3.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTGGCTGGAGGAGTGCCC	0.607													51	66	---	---	---	---	PASS
FLG	2312	broad.mit.edu	37	1	152286978	152286978	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152286978C>T	uc001ezu.1	-	3	420	c.384G>A	c.(382-384)CTG>CTA	p.L128L	uc001ezv.2_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	128					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTCTTTCCAGACTTGAGG	0.373									Ichthyosis				73	221	---	---	---	---	PASS
KPRP	448834	broad.mit.edu	37	1	152732350	152732350	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152732350G>T	uc001fal.1	+	2	344	c.286G>T	c.(286-288)GGC>TGC	p.G96C		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	96	Gln-rich.					cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGTGAAGGGCCAGGCTGC	0.552													151	264	---	---	---	---	PASS
HAX1	10456	broad.mit.edu	37	1	154245803	154245803	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154245803C>T	uc001fes.2	+						HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Intron|HAX1_uc009wou.2_Intron|HAX1_uc009wov.2_Intron	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a							actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATCTGCCTCCACTCTCAGCC	0.502									Kostmann_syndrome				62	129	---	---	---	---	PASS
ADAR	103	broad.mit.edu	37	1	154574229	154574229	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154574229C>A	uc001ffh.2	-	2	1089	c.889G>T	c.(889-891)GCC>TCC	p.A297S	ADAR_uc001ffj.2_Missense_Mutation_p.A297S|ADAR_uc001ffi.2_Missense_Mutation_p.A297S|ADAR_uc001ffk.2_Missense_Mutation_p.A2S|ADAR_uc001ffl.1_Missense_Mutation_p.A2S	NM_001111	NP_001102	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific isoform a	297	DRADA 2.				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)		TTGATCTCGGCCATGTCTAAA	0.468													59	151	---	---	---	---	PASS
CCT3	7203	broad.mit.edu	37	1	156288776	156288776	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156288776G>A	uc001fol.1	-	8	862	c.642C>T	c.(640-642)GTC>GTT	p.V214V	CCT3_uc001fom.1_Silent_p.V213V|CCT3_uc001fon.1_Silent_p.V176V|CCT3_uc010phj.1_Silent_p.V168V|CCT3_uc010phk.1_Silent_p.V168V|CCT3_uc010phl.1_Silent_p.V168V	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	214					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CTCCACGCAAGACACAGGAGT	0.438													29	66	---	---	---	---	PASS
TTC24	164118	broad.mit.edu	37	1	156553228	156553228	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156553228C>A	uc009wsc.1	+	3	438	c.298C>A	c.(298-300)CTG>ATG	p.L100M		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	380	TPR 8.						binding			pancreas(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAAGGAAGCACTGGCCCAGTG	0.602											OREG0013875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	15	---	---	---	---	PASS
NES	10763	broad.mit.edu	37	1	156642011	156642011	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156642011C>A	uc001fpq.2	-	4	2102	c.1969G>T	c.(1969-1971)GTA>TTA	p.V657L		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	657	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGAACTTACTAATTCTTGA	0.408													33	74	---	---	---	---	PASS
INSRR	3645	broad.mit.edu	37	1	156823971	156823971	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156823971G>T	uc010pht.1	-	2	464	c.210C>A	c.(208-210)GGC>GGA	p.G70G	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Silent_p.G70G	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	70					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)					GGAAGCTGAGGCCGCGGAAGT	0.632													27	52	---	---	---	---	PASS
NTRK1	4914	broad.mit.edu	37	1	156841411	156841411	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156841411C>A	uc001fqh.1	+						NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Intron|NTRK1_uc009wsk.1_Intron	NM_002529	NP_002520	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						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)	CTTTCCTGATCTAGAAATCTG	0.572			T	TPM3|TPR|TFG	papillary thyroid					TSP Lung(10;0.080)			45	106	---	---	---	---	PASS
ARHGEF11	9826	broad.mit.edu	37	1	156907135	156907135	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156907135C>T	uc001fqo.2	-	38	5266	c.4226G>A	c.(4225-4227)CGC>CAC	p.R1409H	ARHGEF11_uc010phu.1_Missense_Mutation_p.R825H|ARHGEF11_uc001fqn.2_Missense_Mutation_p.R1449H|MIR765_hsa-mir-765|MI0005116_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1409					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)					GCGGCTGGGGCGTCTTGGATC	0.622													20	52	---	---	---	---	PASS
ARHGEF11	9826	broad.mit.edu	37	1	156928544	156928544	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156928544C>A	uc001fqo.2	-	16	2412	c.1372G>T	c.(1372-1374)GGA>TGA	p.G458*	ARHGEF11_uc001fqn.2_Nonsense_Mutation_p.G498*|ARHGEF11_uc001fqp.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	458	RGSL.|Potential.				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)					AAAATATCTCCAAGGGCAGCC	0.542													24	39	---	---	---	---	PASS
CD1C	911	broad.mit.edu	37	1	158262530	158262530	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158262530G>T	uc001fru.2	+	4	1047	c.755G>T	c.(754-756)GGT>GTT	p.G252V	CD1C_uc001frv.2_Missense_Mutation_p.G55V	NM_001765	NP_001756	P29017	CD1C_HUMAN	CD1C antigen precursor	252	Extracellular (Potential).|Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.G252C(1)		ovary(2)|skin(1)|pancreas(1)	4	all_hematologic(112;0.0378)					ACTAAACATGGTGATATTCTT	0.532													43	99	---	---	---	---	PASS
OR6K6	128371	broad.mit.edu	37	1	158725183	158725183	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158725183C>G	uc001fsw.1	+	1	578	c.578C>G	c.(577-579)ACC>AGC	p.T193S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	193	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					TGGATTTCCACCTTGCCTTTC	0.478													30	78	---	---	---	---	PASS
MNDA	4332	broad.mit.edu	37	1	158817656	158817656	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158817656A>T	uc001fsz.1	+	6	1326	c.1126A>T	c.(1126-1128)ACA>TCA	p.T376S		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	376	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)					TCAACTGAGAACAGTTGACCG	0.433													59	114	---	---	---	---	PASS
DARC	2532	broad.mit.edu	37	1	159176115	159176115	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159176115C>A	uc001fto.2	+	2	1126	c.886C>A	c.(886-888)CAC>AAC	p.H296N	DARC_uc001ftp.3_Missense_Mutation_p.H298N	NM_002036	NP_002027	Q16570	DUFFY_HUMAN	Duffy blood group antigen isoform b	296	Helical; Name=7; (Potential).				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			ovary(1)|lung(1)	2	all_hematologic(112;0.0429)					GGCAATTTTGCACTGTGTGGC	0.597													171	387	---	---	---	---	PASS
CD84	8832	broad.mit.edu	37	1	160519720	160519720	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160519720T>A	uc001fwh.3	-	7	983	c.959A>T	c.(958-960)CAG>CTG	p.Q320L	CD84_uc001fwf.3_Missense_Mutation_p.Q303L|CD84_uc001fwg.3_Missense_Mutation_p.Q314L|CD84_uc009wtn.2_Silent_p.A270A|CD84_uc001fwi.3_Missense_Mutation_p.Q189L	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	CD84 molecule	320	Cytoplasmic (Potential).				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			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)			ATCAGCAAACTGCACTTCGGA	0.512													27	62	---	---	---	---	PASS
USP21	27005	broad.mit.edu	37	1	161130856	161130856	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161130856G>T	uc010pke.1	+	3	803	c.426G>T	c.(424-426)TTG>TTT	p.L142F	USP21_uc010pkc.1_Missense_Mutation_p.L142F|USP21_uc010pkd.1_Missense_Mutation_p.L142F|USP21_uc010pkf.1_Missense_Mutation_p.L142F	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	142					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGAGCCGCTTGGCCCTCCGGC	0.642													51	64	---	---	---	---	PASS
B4GALT3	8703	broad.mit.edu	37	1	161143466	161143466	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161143466C>A	uc001fyq.1	-	6	994	c.732G>T	c.(730-732)CAG>CAT	p.Q244H	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Missense_Mutation_p.Q24H|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.Q244H|B4GALT3_uc001fys.1_Missense_Mutation_p.Q244H|B4GALT3_uc009wud.1_3'UTR	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	244	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TCTTCAGGTACTGGTCAGGAG	0.552													57	150	---	---	---	---	PASS
ADAMTS4	9507	broad.mit.edu	37	1	161161322	161161322	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161161322G>A	uc001fyt.3	-	9	2548	c.2120C>T	c.(2119-2121)GCG>GTG	p.A707V		NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	707	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGTGGCCCCCGCGGGGATAGT	0.577													31	159	---	---	---	---	PASS
ADAMTS4	9507	broad.mit.edu	37	1	161161366	161161366	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161161366G>T	uc001fyt.3	-							NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGTGTGGAAGGAGTAGATGGG	0.552													41	78	---	---	---	---	PASS
FCGR2C	9103	broad.mit.edu	37	1	161561180	161561180	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161561180C>T	uc001gav.2	+	5	737	c.638C>T	c.(637-639)ACT>ATT	p.T213I	FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA	NM_201563	NP_963857			Fc fragment of IgG, low affinity IIc, receptor												0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGACCATCACTGTCCAAGGT	0.527													21	62	---	---	---	---	PASS
FCGR2C	9103	broad.mit.edu	37	1	161561181	161561181	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161561181T>A	uc001gav.2	+	5	738	c.639T>A	c.(637-639)ACT>ACA	p.T213T	FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA	NM_201563	NP_963857			Fc fragment of IgG, low affinity IIc, receptor												0	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGACCATCACTGTCCAAGGTA	0.532													21	62	---	---	---	---	PASS
FCRLA	84824	broad.mit.edu	37	1	161680596	161680596	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161680596G>T	uc001gbe.2	+	3	437	c.195G>T	c.(193-195)GAG>GAT	p.E65D	FCRLA_uc001gbd.2_Missense_Mutation_p.E59D|FCRLA_uc001gbf.2_Missense_Mutation_p.E59D|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.E59D|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	42					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCTGCACTGAGGAGAGCAGCT	0.537													25	67	---	---	---	---	PASS
ADCY10	55811	broad.mit.edu	37	1	167793991	167793991	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167793991G>T	uc001ger.2	-	27	4151	c.3853C>A	c.(3853-3855)CTC>ATC	p.L1285I	ADCY10_uc009wvj.2_RNA|ADCY10_uc009wvk.2_Missense_Mutation_p.L1193I|ADCY10_uc010plj.1_Missense_Mutation_p.L1132I	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	1285					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						TTCAGGGGGAGGTTGAAGATG	0.488													88	217	---	---	---	---	PASS
DCAF6	55827	broad.mit.edu	37	1	168012380	168012380	+	Splice_Site	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168012380T>A	uc001gew.2	+	12	1854	c.1612_splice	c.e12+2	p.K538_splice	DCAF6_uc001gev.2_Splice_Site_p.K558_splice|DCAF6_uc001gex.2_Splice_Site_p.K615_splice|DCAF6_uc010plk.1_Splice_Site_p.K584_splice|DCAF6_uc001gey.2_Splice_Site_p.K411_splice|DCAF6_uc001gez.2_Splice_Site	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	IQ motif and WD repeats 1 isoform b						positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3						GTGAAACAAGTAAGGTGTTAT	0.398													14	22	---	---	---	---	PASS
F5	2153	broad.mit.edu	37	1	169511512	169511512	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169511512G>T	uc001ggg.1	-	13	2961	c.2816C>A	c.(2815-2817)TCA>TAA	p.S939*		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	939	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AATCTTAGATGAGTTACTTTG	0.448													74	154	---	---	---	---	PASS
PRRX1	5396	broad.mit.edu	37	1	170695457	170695457	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:170695457G>T	uc001ghf.2	+	3	561	c.514G>T	c.(514-516)GTG>TTG	p.V172L	PRRX1_uc001ghe.2_Missense_Mutation_p.V172L	NM_022716	NP_073207	P54821	PRRX1_HUMAN	paired mesoderm homeobox 1 isoform pmx-1b	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAGGAGACGTGACTGCTGT	0.562													40	73	---	---	---	---	PASS
FMO3	2328	broad.mit.edu	37	1	171086461	171086461	+	Nonsense_Mutation	SNP	C	A	A	rs61008738	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171086461C>A	uc001ghi.2	+	9	1589	c.1478C>A	c.(1477-1479)TCG>TAG	p.S493*	FMO3_uc001ghh.2_Nonsense_Mutation_p.S493*|FMO3_uc010pmb.1_Nonsense_Mutation_p.S473*|FMO3_uc010pmc.1_Nonsense_Mutation_p.S430*	NM_001002294	NP_001002294	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	493					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGGACCGGTCGTTGAAACCC	0.517													64	84	---	---	---	---	PASS
DNM3	26052	broad.mit.edu	37	1	171810835	171810835	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171810835G>T	uc001gie.2	+	1	215	c.39G>T	c.(37-39)GTG>GTT	p.V13V	DNM3_uc001gid.3_Silent_p.V13V|DNM3_uc009wwb.2_Silent_p.V13V|DNM3_uc001gif.2_Silent_p.V13V	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	dynamin 3 isoform a	13					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1						TCCCGCTGGTGAACCGTCTGC	0.687													7	6	---	---	---	---	PASS
SLC9A11	284525	broad.mit.edu	37	1	173545879	173545879	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173545879C>A	uc001giz.2	-	8	1246	c.823G>T	c.(823-825)GGC>TGC	p.G275C	SLC9A11_uc009wwe.2_Translation_Start_Site|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	275					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						GCAAGAGTGCCTGACATTCCT	0.353													17	56	---	---	---	---	PASS
TNR	7143	broad.mit.edu	37	1	175355325	175355325	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175355325C>A	uc001gkp.1	-	6	1701	c.1620G>T	c.(1618-1620)CTG>CTT	p.L540L	TNR_uc009wwu.1_Silent_p.L540L	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	540	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CCCCGCCCACCAGGCCATATT	0.597													32	52	---	---	---	---	PASS
RASAL2	9462	broad.mit.edu	37	1	178414797	178414797	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:178414797G>T	uc001glr.2	+	7	1308	c.1183G>T	c.(1183-1185)GGG>TGG	p.G395W	RASAL2_uc001glq.2_Missense_Mutation_p.G543W	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	395	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			ovary(2)|breast(2)|large_intestine(1)	5						TGACGCACTGGGTATGAAAGA	0.373													43	84	---	---	---	---	PASS
TDRD5	163589	broad.mit.edu	37	1	179561986	179561986	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179561986G>T	uc001gnf.1	+						TDRD5_uc010pnp.1_Intron|uc010pno.1_5'Flank	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5						DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						CTGAAAGGTAGGTTTAAGATT	0.403													40	67	---	---	---	---	PASS
TDRD5	163589	broad.mit.edu	37	1	179599950	179599950	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179599950G>C	uc001gnf.1	+	7	1271	c.1021G>C	c.(1021-1023)GTG>CTG	p.V341L	TDRD5_uc010pnp.1_Missense_Mutation_p.V341L|TDRD5_uc001gnh.1_5'UTR	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	341	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						CTTCTTAAATGTGACAGAACT	0.353													55	105	---	---	---	---	PASS
CEP350	9857	broad.mit.edu	37	1	180047715	180047715	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180047715G>T	uc001gnt.2	+	29	6268	c.5885G>T	c.(5884-5886)GGA>GTA	p.G1962V	CEP350_uc009wxl.2_Missense_Mutation_p.G1961V|CEP350_uc001gnv.2_Missense_Mutation_p.G97V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1962						centrosome|nucleus|spindle				ovary(4)	4						GAGTCTATAGGACAGGAGCAG	0.428													9	30	---	---	---	---	PASS
KIAA1614	57710	broad.mit.edu	37	1	180886163	180886163	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180886163C>A	uc001gok.2	+	2	991	c.924C>A	c.(922-924)CTC>CTA	p.L308L		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	308										ovary(3)|skin(1)	4						AGGAGATGCTCAACGTTTCTG	0.622													35	65	---	---	---	---	PASS
HMCN1	83872	broad.mit.edu	37	1	186157125	186157125	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186157125C>A	uc001grq.1	+	106	16754	c.16525C>A	c.(16525-16527)CGG>AGG	p.R5509R	HMCN1_uc001grs.1_Silent_p.R961R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5509					response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CAACTACCAACGGGATCCTGT	0.483													37	122	---	---	---	---	PASS
PRG4	10216	broad.mit.edu	37	1	186276374	186276374	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186276374C>A	uc001gru.3	+	7	1574	c.1523C>A	c.(1522-1524)CCC>CAC	p.P508H	PRG4_uc001grt.3_Missense_Mutation_p.P467H|PRG4_uc009wyl.2_Missense_Mutation_p.P415H|PRG4_uc009wym.2_Missense_Mutation_p.P374H|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	508	59 X 8 AA repeats of K-X-P-X-P-T-T-X.|21.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						GAGCCTGCACCCACCACCACC	0.647													51	110	---	---	---	---	PASS
TPR	7175	broad.mit.edu	37	1	186312594	186312594	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186312594C>T	uc001grv.2	-	27	3911	c.3614G>A	c.(3613-3615)CGA>CAA	p.R1205Q		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1205					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.R1205*(1)		ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTTTTTCTCGTCGTATAAA	0.338			T	NTRK1	papillary thyroid								50	89	---	---	---	---	PASS
PLA2G4A	5321	broad.mit.edu	37	1	186925314	186925314	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186925314G>T	uc001gsc.2	+	14	1622	c.1417G>T	c.(1417-1419)GTG>TTG	p.V473L	PLA2G4A_uc010pos.1_Missense_Mutation_p.V413L	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	473	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AATGGCCTTGGTGAGTGATTC	0.413													41	56	---	---	---	---	PASS
FAM5C	339479	broad.mit.edu	37	1	190129813	190129813	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190129813C>A	uc001gse.1	-	7	1401	c.1169G>T	c.(1168-1170)AGC>ATC	p.S390I	FAM5C_uc010pot.1_Missense_Mutation_p.S288I	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	390						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					TCTTGGCAGGCTGATGAGGGG	0.378													58	112	---	---	---	---	PASS
ZBTB41	360023	broad.mit.edu	37	1	197160934	197160934	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197160934C>A	uc001gtx.1	-	2	1285	c.1216G>T	c.(1216-1218)GTT>TTT	p.V406F	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	406	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TTTCTGTGAACAGTTAGGTTA	0.398													35	59	---	---	---	---	PASS
CRB1	23418	broad.mit.edu	37	1	197403947	197403947	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197403947C>A	uc001gtz.2	+	9	3089	c.2954C>A	c.(2953-2955)GCA>GAA	p.A985E	CRB1_uc010poz.1_Missense_Mutation_p.A961E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A873E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.A466E|CRB1_uc001gub.1_Missense_Mutation_p.A634E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	985	Extracellular (Potential).|Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9						ACAAGGGATGCAAATGTAATA	0.338													55	130	---	---	---	---	PASS
GPR25	2848	broad.mit.edu	37	1	200842988	200842988	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200842988C>A	uc001gvn.1	+	1	823	c.823C>A	c.(823-825)CTG>ATG	p.L275M		NM_005298	NP_005289	O00155	GPR25_HUMAN	G protein-coupled receptor 25	275	Extracellular (Potential).					integral to plasma membrane				ovary(1)	1						TCTGGGGGCGCTGCCGCTGCC	0.692													17	13	---	---	---	---	PASS
KIF21B	23046	broad.mit.edu	37	1	200946404	200946404	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200946404T>A	uc001gvs.1	-	31	4578	c.4261A>T	c.(4261-4263)AGC>TGC	p.S1421C	KIF21B_uc001gvr.1_Missense_Mutation_p.S1408C|KIF21B_uc009wzl.1_Missense_Mutation_p.S1421C|KIF21B_uc010ppn.1_Missense_Mutation_p.S1408C	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1421	WD 3.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CCCGAAGGGCTGAGGGCGATC	0.647													74	144	---	---	---	---	PASS
KIF21B	23046	broad.mit.edu	37	1	200959255	200959255	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200959255C>A	uc001gvs.1	-						KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						CAGGCCCAGCCCTGCGGATAC	0.652													67	107	---	---	---	---	PASS
SYT2	127833	broad.mit.edu	37	1	202573743	202573743	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202573743G>T	uc001gye.2	-	3	378	c.185C>A	c.(184-186)CCC>CAC	p.P62H	SYT2_uc010pqb.1_Missense_Mutation_p.P62H|SYT2_uc009xaf.2_Intron	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	62	Vesicular (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CAGTGCCCAGGGTGGTACTGC	0.517													16	36	---	---	---	---	PASS
PPFIA4	8497	broad.mit.edu	37	1	203037726	203037726	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203037726G>T	uc001gyz.2	+	14	2369	c.1776G>T	c.(1774-1776)CTG>CTT	p.L592L	PPFIA4_uc009xaj.2_Silent_p.L1223L|PPFIA4_uc010pqf.1_Silent_p.L805L|PPFIA4_uc001gza.2_Silent_p.L583L|PPFIA4_uc001gzb.1_Silent_p.L278L|PPFIA4_uc001gzc.1_Silent_p.L134L	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	592	SAM 3.				cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5						CACTGGCCCTGATCCTCCAGA	0.552													10	11	---	---	---	---	PASS
CHIT1	1118	broad.mit.edu	37	1	203186086	203186086	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203186086C>G	uc001gzn.2	-	11	1428	c.1332G>C	c.(1330-1332)CGG>CGC	p.R444R	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Silent_p.R206R|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.R435R	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	444	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						GCTGGAACAGCCGCCCCGCTG	0.597											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	148	---	---	---	---	PASS
NFASC	23114	broad.mit.edu	37	1	204943341	204943341	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204943341G>C	uc001hbj.2	+	13	1642	c.1314G>C	c.(1312-1314)CAG>CAC	p.Q438H	NFASC_uc001hbh.2_Missense_Mutation_p.Q438H|NFASC_uc010pqz.1_Missense_Mutation_p.Q432H|NFASC_uc010pra.1_Missense_Mutation_p.Q449H|NFASC_uc001hbi.2_Missense_Mutation_p.Q449H|NFASC_uc009xbg.1_Missense_Mutation_p.Q522H|NFASC_uc010prb.1_Missense_Mutation_p.Q449H|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Missense_Mutation_p.Q259H	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	438	Extracellular (Potential).|Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCGGAACCAGCTCATTCGAG	0.557													21	41	---	---	---	---	PASS
CNTN2	6900	broad.mit.edu	37	1	205033820	205033820	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205033820C>G	uc001hbr.2	+	12	1730	c.1461C>G	c.(1459-1461)ACC>ACG	p.T487T	CNTN2_uc001hbq.1_Silent_p.T378T|CNTN2_uc001hbs.2_Silent_p.T275T	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	487	Ig-like C2-type 5.				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)			GCAAATACACCTGCTTTGCTG	0.542													33	195	---	---	---	---	PASS
CR1	1378	broad.mit.edu	37	1	207753697	207753697	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207753697A>T	uc001hfy.2	+	22	3839	c.3699A>T	c.(3697-3699)AGA>AGT	p.R1233S	CR1_uc009xcl.1_Missense_Mutation_p.R783S|CR1_uc001hfx.2_Missense_Mutation_p.R1683S	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1233	Extracellular (Potential).|Sushi 19.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						ATGACCTCAGAGGGGCTGCGT	0.562													91	172	---	---	---	---	PASS
TRAF3IP3	80342	broad.mit.edu	37	1	209933636	209933636	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209933636C>A	uc001hho.2	+	3	542	c.252C>A	c.(250-252)GCC>GCA	p.A84A	TRAF3IP3_uc001hhl.2_Silent_p.A84A|TRAF3IP3_uc001hhm.1_Silent_p.A84A|TRAF3IP3_uc001hhn.2_Silent_p.A84A|TRAF3IP3_uc009xcr.2_Silent_p.A84A	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	84	Cytoplasmic (Potential).					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATCCCCAGGCCAGGGAGCAAG	0.602													18	39	---	---	---	---	PASS
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209965773C>A	uc001hhq.1	-	6	772	c.509_splice	c.e6-1	p.G170_splice	IRF6_uc010psm.1_Splice_Site_p.G75_splice|IRF6_uc009xct.1_Splice_Site_p.G170_splice	NM_006147	NP_006138	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537										HNSCC(57;0.16)			21	44	---	---	---	---	PASS
SYT14	255928	broad.mit.edu	37	1	210334354	210334354	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210334354A>G	uc009xcv.2	+	8	1707	c.1635A>G	c.(1633-1635)CAA>CAG	p.Q545Q	SYT14_uc001hhs.3_Silent_p.Q609Q|SYT14_uc001hht.3_Silent_p.Q564Q|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.Q590Q|SYT14_uc010pso.1_Silent_p.Q507Q|SYT14_uc010psp.1_Silent_p.Q83Q	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	545	Cytoplasmic (Potential).					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGGACAGCAAGTATGTAGAT	0.388													51	111	---	---	---	---	PASS
KCNH1	3756	broad.mit.edu	37	1	210948806	210948806	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210948806A>T	uc001hib.2	-	10	2166	c.1996T>A	c.(1996-1998)TAC>AAC	p.Y666N	KCNH1_uc001hic.2_Missense_Mutation_p.Y639N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	666	Cytoplasmic (Potential).|cNMP.				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)		AGATCACAGTAGGTCAAGGCC	0.517													50	94	---	---	---	---	PASS
FAM71A	149647	broad.mit.edu	37	1	212799154	212799154	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212799154T>C	uc001hjk.2	+	1	1339	c.935T>C	c.(934-936)ATA>ACA	p.I312T	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	312	Ala-rich.									skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGCGCAGCCATAGCTGGGGCG	0.478													14	30	---	---	---	---	PASS
PTPN14	5784	broad.mit.edu	37	1	214556843	214556843	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214556843T>A	uc001hkk.1	-	13	2626	c.2355A>T	c.(2353-2355)CCA>CCT	p.P785P	PTPN14_uc010pty.1_Silent_p.P686P	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	785					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGCCTTGGCTGGCCCATGCC	0.647													45	60	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	215844504	215844504	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215844504C>A	uc001hku.1	-	64	14330	c.13943G>T	c.(13942-13944)GGA>GTA	p.G4648V		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4648	Fibronectin type-III 32.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGCTGGAATCCTCCTGGAGC	0.468										HNSCC(13;0.011)			78	173	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	215844505	215844505	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215844505C>G	uc001hku.1	-	64	14329	c.13942G>C	c.(13942-13944)GGA>CGA	p.G4648R		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4648	Fibronectin type-III 32.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCTGGAATCCTCCTGGAGCC	0.473										HNSCC(13;0.011)			80	172	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	215847647	215847647	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215847647C>T	uc001hku.1	-	63	13993	c.13606G>A	c.(13606-13608)GAA>AAA	p.E4536K		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4536	Fibronectin type-III 31.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGGAGGTTCCATCCCTGAG	0.493										HNSCC(13;0.011)			72	163	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	215847895	215847895	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215847895T>A	uc001hku.1	-	63	13745	c.13358A>T	c.(13357-13359)CAA>CTA	p.Q4453L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4453	Fibronectin type-III 30.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTGTGACTTGCAATGTTGG	0.478										HNSCC(13;0.011)			41	116	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	215848719	215848719	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215848719A>T	uc001hku.1	-	63	12921	c.12534T>A	c.(12532-12534)CCT>CCA	p.P4178P		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4178	Extracellular (Potential).|Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGGTTAACAGGCTCAGACC	0.502										HNSCC(13;0.011)			56	113	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	215953204	215953204	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215953204C>A	uc001hku.1	-	55	11307	c.10920G>T	c.(10918-10920)AGG>AGT	p.R3640S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3640	Extracellular (Potential).|Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATGCTGTCTCCTGTCAGTGG	0.493										HNSCC(13;0.011)			51	92	---	---	---	---	PASS
USH2A	7399	broad.mit.edu	37	1	216144085	216144085	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216144085C>G	uc001hku.1	-	36	7226	c.6839G>C	c.(6838-6840)GGT>GCT	p.G2280A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2280	Fibronectin type-III 9.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATTAATATACCATCTAGATA	0.398										HNSCC(13;0.011)			50	152	---	---	---	---	PASS
ESRRG	2104	broad.mit.edu	37	1	216737693	216737693	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216737693C>G	uc001hkw.1	-	5	896	c.730G>C	c.(730-732)GCT>CCT	p.A244P	ESRRG_uc001hky.1_Missense_Mutation_p.A221P|ESRRG_uc009xdp.1_Missense_Mutation_p.A221P|ESRRG_uc001hkz.1_Missense_Mutation_p.A182P|ESRRG_uc010puc.1_Missense_Mutation_p.A221P|ESRRG_uc001hla.1_Missense_Mutation_p.A221P|ESRRG_uc001hlb.1_Missense_Mutation_p.A221P|ESRRG_uc010pud.1_Missense_Mutation_p.A52P|ESRRG_uc001hlc.1_Missense_Mutation_p.A221P|ESRRG_uc001hld.1_Missense_Mutation_p.A221P|ESRRG_uc001hkx.1_Missense_Mutation_p.A256P|ESRRG_uc009xdo.1_Missense_Mutation_p.A221P|ESRRG_uc001hle.1_Missense_Mutation_p.A221P	NM_001438	NP_001429	P62508	ERR3_HUMAN	estrogen-related receptor gamma isoform 1	244					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|kidney(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCGGTTCAGCCACCAACAAA	0.478													33	123	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	1	219706429	219706429	+	IGR	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:219706429G>T								LYPLAL1 (320223 upstream) : SLC30A10 (152340 downstream)																							GGGTTTTTATGCATAGAAGGT	0.373													29	43	---	---	---	---	PASS
HLX	3142	broad.mit.edu	37	1	221053252	221053252	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221053252C>A	uc001hmv.3	+	1	510	c.53C>A	c.(52-54)TCG>TAG	p.S18*		NM_021958	NP_068777	Q14774	HLX_HUMAN	H2.0-like homeobox	18					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S18S(1)		ovary(2)	2				GBM - Glioblastoma multiforme(131;0.00914)		AGCCTCTGGTCGGCCGCTTAC	0.687													6	11	---	---	---	---	PASS
DISP1	84976	broad.mit.edu	37	1	223168310	223168310	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223168310G>T	uc001hnu.1	+	7	1120	c.973G>T	c.(973-975)GTA>TTA	p.V325L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	325					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)		AATGTGCAATGTAGATAATTC	0.353													84	194	---	---	---	---	PASS
DISP1	84976	broad.mit.edu	37	1	223176710	223176710	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223176710G>A	uc001hnu.1	+	8	2118	c.1971G>A	c.(1969-1971)GTG>GTA	p.V657V		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	657	Helical; (Potential).|SSD.				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)		CAGTTGTTGTGCTGCATGAGC	0.433													71	107	---	---	---	---	PASS
TLR5	7100	broad.mit.edu	37	1	223285332	223285332	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223285332G>A	uc001hnv.1	-	4	1488	c.1042C>T	c.(1042-1044)CTG>TTG	p.L348L	TLR5_uc001hnw.1_Silent_p.L348L	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	348	Extracellular (Potential).|LRR 7.				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AGTTCCCCCAGAAGGTTATAT	0.368													75	152	---	---	---	---	PASS
LEFTY2	7044	broad.mit.edu	37	1	226125383	226125383	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226125383C>A	uc001hpt.1	-	4	939	c.859G>T	c.(859-861)GGC>TGC	p.G287C	LEFTY2_uc010pvk.1_Missense_Mutation_p.G253C|LEFTY2_uc009xek.1_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	287					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					GCCAGGAAGCCCGGGGGCTCC	0.642													13	31	---	---	---	---	PASS
C1orf55	163859	broad.mit.edu	37	1	226173192	226173192	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226173192C>G	uc001hpu.3	-	7	1220	c.1167G>C	c.(1165-1167)GCG>GCC	p.A389A	C1orf55_uc001hpv.2_Intron	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	389										lung(1)	1	Breast(184;0.197)					CAGAGGTGAACGCCAATAAAT	0.428													47	109	---	---	---	---	PASS
C1orf55	163859	broad.mit.edu	37	1	226175617	226175617	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226175617C>A	uc001hpu.3	-	6	1167	c.1114G>T	c.(1114-1116)GAA>TAA	p.E372*	C1orf55_uc001hpv.2_Nonsense_Mutation_p.E372*	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	hypothetical protein LOC163859	372										lung(1)	1	Breast(184;0.197)					GGCTGGCTTTCCTGCAGTTTG	0.418													59	115	---	---	---	---	PASS
PARP1	142	broad.mit.edu	37	1	226555963	226555963	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226555963G>A	uc001hqd.3	-	16	2385	c.2214C>T	c.(2212-2214)ACC>ACT	p.T738T		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	738	PARP alpha-helical.				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)		GGGGGATCAGGGTGTAAAAGC	0.567								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					59	93	---	---	---	---	PASS
ACTA1	58	broad.mit.edu	37	1	229568343	229568343	+	Silent	SNP	G	A	A	rs121909526		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229568343G>A	uc001htm.2	-	3	519	c.414C>T	c.(412-414)ATC>ATT	p.I138I		NM_001100	NP_001091	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	138			I -> M (in NEM3; autosomal recessive).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton				0	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCACGGCCTGGATGGCCACGT	0.498													33	50	---	---	---	---	PASS
URB2	9816	broad.mit.edu	37	1	229770871	229770871	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229770871G>T	uc001hts.1	+	4	647	c.511G>T	c.(511-513)GAG>TAG	p.E171*	URB2_uc009xfd.1_Nonsense_Mutation_p.E171*	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	171						nucleolus				central_nervous_system(2)|ovary(1)	3						CCAGTTGTTTGAGGTCATTCA	0.587													42	68	---	---	---	---	PASS
TTC13	79573	broad.mit.edu	37	1	231069608	231069608	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231069608C>A	uc001huf.3	-	9	932	c.901_splice	c.e9-1	p.E301_splice	TTC13_uc009xfi.2_Splice_Site_p.E248_splice|TTC13_uc009xfj.2_Splice_Site|TTC13_uc001hug.3_Splice_Site_p.E248_splice|TTC13_uc009xfk.1_Splice_Site_p.E191_splice	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a								binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CAATAGCTTCCTATAAAAAGT	0.284													19	108	---	---	---	---	PASS
DISC1	27185	broad.mit.edu	37	1	231829612	231829612	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231829612G>T	uc001huz.2	+	2	161	c.108G>T	c.(106-108)AGG>AGT	p.R36S	TSNAX-DISC1_uc010pwe.1_5'UTR|TSNAX-DISC1_uc010pwf.1_5'UTR|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwh.1_5'UTR|TSNAX-DISC1_uc010pwi.1_5'UTR|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.R25S|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.R36S|DISC1_uc010pwp.1_Missense_Mutation_p.R36S|DISC1_uc010pwq.1_Missense_Mutation_p.R36S|DISC1_uc010pwr.1_Missense_Mutation_p.R36S|DISC1_uc010pws.1_Missense_Mutation_p.R36S|DISC1_uc010pwt.1_Missense_Mutation_p.R36S|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.R36S|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.R36S|DISC1_uc010pxb.1_Missense_Mutation_p.R36S|DISC1_uc010pxc.1_Missense_Mutation_p.R36S|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.R36S|DISC1_uc009xfr.2_5'UTR|DISC1_uc010pxf.1_Missense_Mutation_p.R36S|DISC1_uc010pxg.1_Missense_Mutation_p.R36S|DISC1_uc010pxh.1_Missense_Mutation_p.R36S|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.R36S|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.R36S|DISC1_uc010pwm.1_Missense_Mutation_p.R36S|DISC1_uc001hux.1_Missense_Mutation_p.R36S|DISC1_uc001hvc.3_Missense_Mutation_p.R36S|DISC1_uc010pwn.1_Missense_Mutation_p.R36S	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1 isoform L	36	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			skin(1)	1		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCTTTCGGAGGCGGCGGCTGG	0.597													33	64	---	---	---	---	PASS
EDARADD	128178	broad.mit.edu	37	1	236590723	236590723	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236590723C>A	uc001hxu.1	+	4	257	c.192C>A	c.(190-192)TGC>TGA	p.C64*	EDARADD_uc001hxv.1_Nonsense_Mutation_p.C54*	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	64					cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTGAACTGCCCACGAAATT	0.244													20	80	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237580371	237580371	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237580371G>T	uc001hyl.1	+	11	916	c.796G>T	c.(796-798)GCT>TCT	p.A266S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	266	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	p.A264T(1)		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)			TGAAGGTGGCGCTGTGTCTGT	0.388													15	46	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237758948	237758948	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237758948A>G	uc001hyl.1	+	34	4707	c.4587A>G	c.(4585-4587)ACA>ACG	p.T1529T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1529	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				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)			AACTGAGCACATACTATCAGG	0.473													19	38	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237801802	237801802	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237801802G>T	uc001hyl.1	+							NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						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)			GGTAGGACTTGATTTCTTGAG	0.373													118	280	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237813349	237813349	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237813349C>A	uc001hyl.1	+	50	7805	c.7685C>A	c.(7684-7686)ACC>AAC	p.T2562N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2562	Cytoplasmic (By similarity).|4 X approximate repeats.				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)			TGTTCACTTACCAAAGCTCAG	0.403													84	171	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237837496	237837496	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237837496G>C	uc001hyl.1	+	59	8811	c.8691G>C	c.(8689-8691)CAG>CAC	p.Q2897H	RYR2_uc010pxz.1_5'Flank	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2897	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|Calmodulin-binding (Potential).|4.				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)			AGTTCTTGCAGATCAATGGAT	0.403													25	39	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237947642	237947642	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237947642C>A	uc001hyl.1	+	90	12750	c.12630C>A	c.(12628-12630)GAC>GAA	p.D4210E	RYR2_uc010pya.1_Missense_Mutation_p.D625E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4210					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)			CGGAGTCGGACTTGAACGAGA	0.537													34	73	---	---	---	---	PASS
RYR2	6262	broad.mit.edu	37	1	237972324	237972324	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237972324G>T	uc001hyl.1	+	100	14542	c.14422G>T	c.(14422-14424)GAT>TAT	p.D4808Y	RYR2_uc010pyb.1_Missense_Mutation_p.D241Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4808					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)			GAAATGTGACGATATGCTAAC	0.338													114	215	---	---	---	---	PASS
ZP4	57829	broad.mit.edu	37	1	238053840	238053840	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238053840G>T	uc001hym.2	-	1	96	c.96C>A	c.(94-96)CTC>CTA	p.L32L	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	32	Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCCACAGTGGAGCACACTGG	0.507													27	67	---	---	---	---	PASS
ZP4	57829	broad.mit.edu	37	1	238053887	238053887	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238053887C>A	uc001hym.2	-	1	49	c.49G>T	c.(49-51)GTG>TTG	p.V17L	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	17					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGCCACTCACAGCAAGAGAT	0.552													18	59	---	---	---	---	PASS
CHRM3	1131	broad.mit.edu	37	1	240070879	240070879	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240070879C>A	uc001hyp.2	+	5	907	c.128C>A	c.(127-129)TCT>TAT	p.S43Y		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	43	Extracellular (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)	TACAATGTTTCTCGAGCAGCT	0.562													44	114	---	---	---	---	PASS
EXO1	9156	broad.mit.edu	37	1	242052766	242052766	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242052766G>T	uc001hzh.2	+	16	2946	c.2406_splice	c.e16-1	p.K802_splice	EXO1_uc001hzi.2_Intron|EXO1_uc001hzj.2_Splice_Site_p.K802_splice|EXO1_uc009xgq.2_Splice_Site_p.K801_splice	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GTATTTTGCAGAGATTCTGAA	0.358								Direct_reversal_of_damage|Editing_and_processing_nucleases					13	106	---	---	---	---	PASS
EXO1	9156	broad.mit.edu	37	1	242052767	242052767	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242052767A>T	uc001hzh.2	+	16	2946	c.2406A>T	c.(2404-2406)AAA>AAT	p.K802N	EXO1_uc001hzi.2_Splice_Site_p.K802_splice|EXO1_uc001hzj.2_Missense_Mutation_p.K802N|EXO1_uc009xgq.2_Missense_Mutation_p.K801N	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	802	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TATTTTGCAGAGATTCTGAAA	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases					14	107	---	---	---	---	PASS
EXO1	9156	broad.mit.edu	37	1	242052787	242052787	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242052787C>T	uc001hzh.2	+	16	2966	c.2426C>T	c.(2425-2427)CCT>CTT	p.P809L	EXO1_uc001hzi.2_3'UTR|EXO1_uc001hzj.2_Missense_Mutation_p.P809L|EXO1_uc009xgq.2_Missense_Mutation_p.P808L	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	809	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAGCTTCCTCCTTGTAAGAAA	0.363								Direct_reversal_of_damage|Editing_and_processing_nucleases					21	122	---	---	---	---	PASS
ADSS	159	broad.mit.edu	37	1	244579333	244579333	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244579333T>A	uc001iaj.2	-	11	1412	c.1118A>T	c.(1117-1119)AAA>ATA	p.K373I		NM_001126	NP_001117	P30520	PURA2_HUMAN	adenylosuccinate synthase	373					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			ovary(2)|kidney(1)	3	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	AACTCCAACTTTGATTTCCGT	0.338													37	87	---	---	---	---	PASS
CNST	163882	broad.mit.edu	37	1	246810488	246810488	+	Missense_Mutation	SNP	A	G	G	rs144281475	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246810488A>G	uc001ibp.2	+	9	1363	c.985A>G	c.(985-987)ACA>GCA	p.T329A	CNST_uc001ibo.3_Missense_Mutation_p.T329A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	329					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						AAGCCAACATACAGTGGAGCC	0.433											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	170	---	---	---	---	PASS
SCCPDH	51097	broad.mit.edu	37	1	246929399	246929399	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246929399C>A	uc001ibr.2	+	11	1489	c.1142C>A	c.(1141-1143)GCA>GAA	p.A381E		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	381						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			ovary(1)	1	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ATGGTTCAGGCAGCCATGACT	0.398													68	165	---	---	---	---	PASS
OR2C3	81472	broad.mit.edu	37	1	247694937	247694937	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247694937G>A	uc009xgy.2	-	2	1239	c.877C>T	c.(877-879)CTG>TTG	p.L293L	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTGTTCCTCAGGGTGTAAATA	0.547													30	73	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	1	247902391	247902391	+	IGR	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247902391G>C								OR6F1 (26334 upstream) : OR1C1 (18375 downstream)																							CTTGTACACAGCTGGAACATT	0.507													59	164	---	---	---	---	PASS
OR11L1	391189	broad.mit.edu	37	1	248004856	248004856	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248004856G>T	uc001idn.1	-	1	343	c.343C>A	c.(343-345)CTG>ATG	p.L115M		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	115	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGAAGGCCAGGAGAAAGCAC	0.602													8	23	---	---	---	---	PASS
TRIM58	25893	broad.mit.edu	37	1	248028214	248028214	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248028214C>G	uc001ido.2	+	3	772	c.724C>G	c.(724-726)CGC>GGC	p.R242G		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	242	Potential.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGTGCCAGCGCCCGGCCCT	0.627													4	12	---	---	---	---	PASS
OR2AK2	391191	broad.mit.edu	37	1	248129078	248129078	+	Missense_Mutation	SNP	A	T	T	rs140557072		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248129078A>T	uc010pzd.1	+	1	445	c.445A>T	c.(445-447)ATG>TTG	p.M149L	OR2L13_uc001ids.2_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK,	149	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)			ACATTATCCTATGCTTATGAG	0.433													141	275	---	---	---	---	PASS
OR2T33	391195	broad.mit.edu	37	1	248436847	248436847	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248436847G>T	uc010pzi.1	-	1	270	c.270C>A	c.(268-270)ATC>ATA	p.I90I		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	90	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCGCGGGAGATGGCCTTAC	0.567													50	165	---	---	---	---	PASS
OR2T12	127064	broad.mit.edu	37	1	248458892	248458892	+	5'Flank	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248458892G>T	uc010pzj.1	-							NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTCCCCTGGTGTGATGGTG	0.403													41	118	---	---	---	---	PASS
OR2T2	401992	broad.mit.edu	37	1	248616772	248616772	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248616772C>G	uc001iek.1	+	1	674	c.674C>G	c.(673-675)ACT>AGT	p.T225S		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTCCTGACTGTCCACAGG	0.542													39	20	---	---	---	---	PASS
OR2T3	343173	broad.mit.edu	37	1	248637345	248637345	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248637345A>T	uc001iel.1	+	1	694	c.694A>T	c.(694-696)AGG>TGG	p.R232W		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCATCCACAGGATGAATTC	0.547													47	164	---	---	---	---	PASS
OR2T34	127068	broad.mit.edu	37	1	248737365	248737365	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248737365T>A	uc001iep.1	-	1	694	c.694A>T	c.(694-696)AGG>TGG	p.R232W		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	232	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAATTCATCCTGTGGATGAGA	0.547													36	241	---	---	---	---	PASS
OR2T34	127068	broad.mit.edu	37	1	248738021	248738021	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248738021G>T	uc001iep.1	-	1	38	c.38C>A	c.(37-39)GCA>GAA	p.A13E		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	13	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCAGTGCTTGCTGTTTGATT	0.468													32	124	---	---	---	---	PASS
MYT1L	23040	broad.mit.edu	37	2	1893231	1893231	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1893231C>A	uc002qxe.2	-	16	3129	c.2302G>T	c.(2302-2304)GAT>TAT	p.D768Y	MYT1L_uc002qxd.2_Missense_Mutation_p.D766Y|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	768					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCGTTCTCATCCACCTCCATG	0.597													13	68	---	---	---	---	PASS
ROCK2	9475	broad.mit.edu	37	2	11356275	11356275	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11356275C>A	uc002rbd.1	-							NM_004850	NP_004841	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein						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)		AAAAGTGGGGCAACTTTACCT	0.338													48	81	---	---	---	---	PASS
GREB1	9687	broad.mit.edu	37	2	11735431	11735431	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11735431A>G	uc002rbk.1	+	12	2051	c.1751A>G	c.(1750-1752)CAG>CGG	p.Q584R	GREB1_uc002rbo.1_Missense_Mutation_p.Q218R	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	584						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCGGAGTACCAGAAGGAAGTC	0.363													31	45	---	---	---	---	PASS
DDX1	1653	broad.mit.edu	37	2	15757435	15757435	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15757435C>G	uc002rce.2	+	15	1373	c.1085C>G	c.(1084-1086)TCT>TGT	p.S362C	DDX1_uc010yjq.1_Missense_Mutation_p.S270C	NM_004939	NP_004930	Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 1	362	Necessary for interaction with RELA.|Helicase ATP-binding.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CTGAACTTATCTCAAGTTAGA	0.313													82	121	---	---	---	---	PASS
RAD51AP2	729475	broad.mit.edu	37	2	17698070	17698070	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17698070C>A	uc002rcl.1	-	1	1637	c.1613G>T	c.(1612-1614)TGT>TTT	p.C538F	RAD51AP2_uc010exn.1_Missense_Mutation_p.C529F	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	538										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTGCTTTTTACACTTCAAAAT	0.224													3	39	---	---	---	---	PASS
RAD51AP2	729475	broad.mit.edu	37	2	17699345	17699345	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17699345C>A	uc002rcl.1	-	1	362	c.338G>T	c.(337-339)AGC>ATC	p.S113I	RAD51AP2_uc010exn.1_Missense_Mutation_p.S104I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	113										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAACAGCTACTCATTTG	0.468													43	81	---	---	---	---	PASS
GEN1	348654	broad.mit.edu	37	2	17954485	17954485	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17954485G>T	uc002rct.2	+	10	1064	c.991_splice	c.e10-1	p.V331_splice	SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Splice_Site_p.V331_splice|GEN1_uc002rcu.2_Splice_Site_p.V331_splice	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Gen homolog 1, endonuclease						DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTCTTGCTAGGTTATTCAAG	0.284								Homologous_recombination					32	36	---	---	---	---	PASS
NT5C1B	93034	broad.mit.edu	37	2	18745242	18745242	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18745242G>T	uc002rcz.2	-	10	1757	c.1653C>A	c.(1651-1653)ACC>ACA	p.T551T	NT5C1B_uc002rcy.2_Silent_p.T551T|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Silent_p.T491T|NT5C1B_uc002rda.2_Silent_p.T491T|NT5C1B_uc010yjv.1_Silent_p.T568T|NT5C1B_uc010yjw.1_Silent_p.T534T|NT5C1B_uc010exs.2_Silent_p.T553T	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	551					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGCGTCGAAGGGTCTTCAGCA	0.517													62	114	---	---	---	---	PASS
PUM2	23369	broad.mit.edu	37	2	20508288	20508288	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20508288G>A	uc002rds.1	-	5	599	c.576C>T	c.(574-576)CCC>CCT	p.P192P	PUM2_uc002rdt.1_Silent_p.P192P|PUM2_uc002rdr.2_Silent_p.P131P|PUM2_uc010yjy.1_Silent_p.P192P|PUM2_uc002rdu.1_Silent_p.P192P|PUM2_uc010yjz.1_Silent_p.P131P	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	192	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTAGTATTGGGGCCCAAGC	0.408													47	130	---	---	---	---	PASS
APOB	338	broad.mit.edu	37	2	21233860	21233860	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21233860G>T	uc002red.2	-	26	6008	c.5880C>A	c.(5878-5880)ATC>ATA	p.I1960I		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1960					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGCTGCACTGATGCTTTTCC	0.443													81	105	---	---	---	---	PASS
OTOF	9381	broad.mit.edu	37	2	26699040	26699040	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26699040C>A	uc002rhk.2	-	23	2949	c.2822G>T	c.(2821-2823)GGC>GTC	p.G941V	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.G194V|OTOF_uc002rhi.2_Missense_Mutation_p.G251V|OTOF_uc002rhj.2_Missense_Mutation_p.G194V	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	941	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGCCCAGGCCCTGGGCTGC	0.672													10	36	---	---	---	---	PASS
OTOF	9381	broad.mit.edu	37	2	26712555	26712555	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26712555G>C	uc002rhk.2	-	10	1078	c.951C>G	c.(949-951)ATC>ATG	p.I317M		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	317	Cytoplasmic (Potential).|C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGAAATCTTGATGATCTTGT	0.383													30	31	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	27375747	27375747	+	IGR	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27375747G>T								TCF23 (14 upstream) : SLC5A6 (46712 downstream)																							TATCACACTCGCCCTTTTCTC	0.522													29	121	---	---	---	---	PASS
SLC5A6	8884	broad.mit.edu	37	2	27424659	27424659	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27424659C>A	uc002rjd.2	-	14	1810	c.1419G>T	c.(1417-1419)GGG>GGT	p.G473G	SLC5A6_uc010eyv.1_Silent_p.G473G	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	473	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)	TCACGATGCTCCCGATGCCAA	0.612													32	36	---	---	---	---	PASS
IFT172	26160	broad.mit.edu	37	2	27700124	27700124	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27700124C>A	uc002rku.2	-	13	1336	c.1285G>T	c.(1285-1287)GGT>TGT	p.G429C	IFT172_uc002rkw.2_Missense_Mutation_p.G429C|IFT172_uc010yls.1_Missense_Mutation_p.G408C|IFT172_uc010ezc.2_Missense_Mutation_p.G429C|IFT172_uc002rkv.2_Missense_Mutation_p.G403C	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	429					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)					CGTACAGAACCCAGGGTGTCA	0.453													62	258	---	---	---	---	PASS
C2orf16	84226	broad.mit.edu	37	2	27800909	27800909	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27800909G>C	uc002rkz.3	+	1	1521	c.1470G>C	c.(1468-1470)AGG>AGC	p.R490S		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	490										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					AATCTGCAAGGACACAGCTTC	0.443													36	73	---	---	---	---	PASS
EHD3	30845	broad.mit.edu	37	2	31483649	31483649	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31483649C>A	uc002rnu.2	+	4	1384	c.776C>A	c.(775-777)TCC>TAC	p.S259Y	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	259					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					TCCTTCTGGTCCCACCCCCTC	0.607													28	97	---	---	---	---	PASS
LTBP1	4052	broad.mit.edu	37	2	33498804	33498804	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33498804G>T	uc002ros.2	+	16	2702	c.2702G>T	c.(2701-2703)TGC>TTC	p.C901F	LTBP1_uc002rot.2_Missense_Mutation_p.C575F|LTBP1_uc002rou.2_Missense_Mutation_p.C574F|LTBP1_uc002rov.2_Missense_Mutation_p.C521F|LTBP1_uc010ymz.1_Missense_Mutation_p.C574F|LTBP1_uc010yna.1_Missense_Mutation_p.C521F	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	900	EGF-like 4; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTGTATATGCTACGAGGGC	0.343													8	72	---	---	---	---	PASS
HEATR5B	54497	broad.mit.edu	37	2	37215788	37215788	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37215788C>A	uc002rpp.1	-	35	6007	c.5911_splice	c.e35+1	p.R1971_splice	HEATR5B_uc002rpo.1_Splice_Site_p.R283_splice|HEATR5B_uc010ezy.1_Splice_Site_p.R466_splice	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B								binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				AATATACTTACTGTTTTGTTC	0.303													43	46	---	---	---	---	PASS
SOS1	6654	broad.mit.edu	37	2	39251238	39251238	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39251238C>A	uc002rrk.3	-	9	1156	c.1115G>T	c.(1114-1116)TGT>TTT	p.C372F	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'UTR|SOS1_uc002rrl.2_Missense_Mutation_p.C104F	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	372	DH.				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)				TTGTTTTAAACATTCCTTGTC	0.299									Noonan_syndrome				16	84	---	---	---	---	PASS
SLC8A1	6546	broad.mit.edu	37	2	40401970	40401970	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:40401970A>G	uc002rrx.2	-	4	1973	c.1949T>C	c.(1948-1950)ATA>ACA	p.I650T	uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.I650T|SLC8A1_uc002rrz.2_Missense_Mutation_p.I642T|SLC8A1_uc002rsa.2_Missense_Mutation_p.I642T|SLC8A1_uc002rsd.3_Missense_Mutation_p.I642T|SLC8A1_uc002rsb.1_Missense_Mutation_p.I642T	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	650	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CATACCTGTTATTGTGAAGCC	0.308													27	129	---	---	---	---	PASS
PLEKHH2	130271	broad.mit.edu	37	2	43937155	43937155	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43937155G>A	uc010yny.1	+	12	2076	c.1993G>A	c.(1993-1995)GAA>AAA	p.E665K	PLEKHH2_uc002rte.3_Missense_Mutation_p.E665K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E664K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	665	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTGGCTTCTGAAAGTGATTA	0.458													42	234	---	---	---	---	PASS
STON1	11037	broad.mit.edu	37	2	48757018	48757018	+	5'Flank	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48757018G>T	uc002rwo.3	+						STON1_uc010fbm.2_5'Flank	NM_006873	NP_006864	Q9Y6Q2	STON1_HUMAN	stonin 1						endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex				skin(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GACTTTTGCAGGAGGGAGCGC	0.597													7	7	---	---	---	---	PASS
NRXN1	9378	broad.mit.edu	37	2	50724472	50724472	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50724472C>G	uc010fbq.2	-	14	4475	c.2998G>C	c.(2998-3000)GGG>CGG	p.G1000R	NRXN1_uc002rxb.3_Missense_Mutation_p.G632R|NRXN1_uc002rxe.3_Missense_Mutation_p.G960R|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	150	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGTACTCACCCTTTAACTAAT	0.328													38	59	---	---	---	---	PASS
USP34	9736	broad.mit.edu	37	2	61520590	61520590	+	Intron	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61520590T>C	uc002sbe.2	-							NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34						positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)			ACCATAAATATGCACTTACCA	0.343													21	88	---	---	---	---	PASS
UGP2	7360	broad.mit.edu	37	2	64083466	64083466	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64083466G>T	uc002scm.2	+	2	352	c.46G>T	c.(46-48)GGT>TGT	p.G16C	UGP2_uc002scl.2_Missense_Mutation_p.G5C|UGP2_uc010ypx.1_Missense_Mutation_p.G25C	NM_006759	NP_006750	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2 isoform a	16					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity				0						GTCTCAAGATGGTGCTTCTCA	0.378													67	189	---	---	---	---	PASS
AAK1	22848	broad.mit.edu	37	2	69771660	69771660	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69771660T>A	uc002sfp.2	-	4	804	c.299A>T	c.(298-300)CAC>CTC	p.H100L	AAK1_uc010fdk.2_Missense_Mutation_p.H100L|AAK1_uc010yqm.1_Missense_Mutation_p.H100L|AAK1_uc010fdm.1_Missense_Mutation_p.H100L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	100	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0						AATATTCTTGTGCCCTGAAAG	0.398													24	47	---	---	---	---	PASS
ASPRV1	151516	broad.mit.edu	37	2	70187792	70187792	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:70187792G>T	uc002sfz.3	-	1	1606	c.1029C>A	c.(1027-1029)CAC>CAA	p.H343Q		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1 precursor	343	Extracellular (Potential).				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			ovary(1)	1						TGGCTTCTCAGTGGGATAGCT	0.572													33	91	---	---	---	---	PASS
CTNNA2	1496	broad.mit.edu	37	2	79878772	79878772	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79878772A>T	uc010ysh.1	+	1	95	c.90A>T	c.(88-90)CCA>CCT	p.P30P	CTNNA2_uc010yse.1_Silent_p.P30P|CTNNA2_uc010ysf.1_Silent_p.P30P|CTNNA2_uc010ysg.1_Silent_p.P30P|hsa-mir-4264|MI0015877_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	30					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGTTGGAGCCACTTGTTACAC	0.413													25	38	---	---	---	---	PASS
POLR1A	25885	broad.mit.edu	37	2	86297336	86297336	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86297336G>A	uc002sqs.2	-	13	2050	c.1671C>T	c.(1669-1671)CAC>CAT	p.H557H		NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	557					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						TGGAGGGTCTGTGCAGTGTGG	0.572													31	34	---	---	---	---	PASS
EIF2AK3	9451	broad.mit.edu	37	2	88879056	88879056	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88879056C>A	uc002stc.3	-	11	2068	c.1866G>T	c.(1864-1866)AAG>AAT	p.K622N		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	622	Cytoplasmic (Potential).|Protein kinase.	ATP (By similarity).			activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GACGGATCCTCTTGATAGCAT	0.398													34	165	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	90198920	90198920	+	RNA	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90198920C>A	uc010fhm.2	+	24		c.3051C>A								Parts of antibodies, mostly variable regions.																		TCCAGATGACCCAGTCTCCAT	0.458													95	128	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	90248953	90248953	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:90248953C>A	uc010fhm.2	+											Parts of antibodies, mostly variable regions.																		GCGCCTGGGGCTCCTGCTGCT	0.552													63	93	---	---	---	---	PASS
ADRA2B	151	broad.mit.edu	37	2	96781401	96781401	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96781401T>A	uc002svi.2	-	1	488	c.488A>T	c.(487-489)CAG>CTG	p.Q163L		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	163	Extracellular (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GAGCTTGCACTGGGGGCGCCC	0.617													13	43	---	---	---	---	PASS
DUSP2	1844	broad.mit.edu	37	2	96810554	96810554	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96810554C>A	uc002svk.3	-	2	542	c.456G>T	c.(454-456)CCG>CCT	p.P152P		NM_004418	NP_004409	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	152					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			breast(1)	1		Ovarian(717;0.0228)				CCCCTGTTGGCGGCAGCGCAG	0.672													2	1	---	---	---	---	PASS
TMEM131	23505	broad.mit.edu	37	2	98377352	98377352	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98377352C>A	uc002syh.3	-	37	5144	c.4915G>T	c.(4915-4917)GGA>TGA	p.G1639*	TMEM131_uc002syg.2_Nonsense_Mutation_p.G19*	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1639						integral to membrane				ovary(4)|central_nervous_system(2)	6						TGTTTGCTTCCATTTGGCTGT	0.537													21	97	---	---	---	---	PASS
TMEM131	23505	broad.mit.edu	37	2	98409345	98409345	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98409345T>A	uc002syh.3	-	31	3877	c.3648A>T	c.(3646-3648)CCA>CCT	p.P1216P		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1216						integral to membrane				ovary(4)|central_nervous_system(2)	6						GGTGGACCGATGGGCCACACT	0.547													15	31	---	---	---	---	PASS
AFF3	3899	broad.mit.edu	37	2	100343538	100343538	+	Splice_Site	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100343538C>T	uc002tag.2	-	10	1327	c.1091_splice	c.e10+1	p.S364_splice	AFF3_uc002taf.2_Splice_Site_p.S389_splice|AFF3_uc010fiq.1_Splice_Site_p.S364_splice|AFF3_uc010yvr.1_Splice_Site_p.S518_splice|AFF3_uc002tah.1_Splice_Site_p.S389_splice|AFF3_uc010fir.1_Silent_p.S441S	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						AAGAAACTTACGATGTATTCG	0.363													19	66	---	---	---	---	PASS
LONRF2	164832	broad.mit.edu	37	2	100910719	100910719	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100910719C>A	uc002tal.3	-	9	2369	c.1729G>T	c.(1729-1731)GGC>TGC	p.G577C	LONRF2_uc010yvs.1_RNA	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger	577	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2						AAACACATGCCAAACCGCTTG	0.493													35	51	---	---	---	---	PASS
NPAS2	4862	broad.mit.edu	37	2	101604630	101604630	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101604630A>T	uc002tap.1	+	17	2005	c.1719A>T	c.(1717-1719)GCA>GCT	p.A573A	NPAS2_uc010yvt.1_Silent_p.A638A|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	573					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						GGTCAGCTGCAGTGACTCAGC	0.602													36	143	---	---	---	---	PASS
IL18RAP	8807	broad.mit.edu	37	2	103040825	103040825	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103040825G>A	uc002tbx.2	+	5	1014	c.530G>A	c.(529-531)AGT>AAT	p.S177N	IL18RAP_uc010fiz.2_Missense_Mutation_p.S35N	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	177	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						tctTGCCCCAGTCTCAGCTGC	0.294													28	110	---	---	---	---	PASS
SLC5A7	60482	broad.mit.edu	37	2	108608580	108608580	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:108608580G>T	uc002tdv.2	+	3	473	c.197G>T	c.(196-198)GGG>GTG	p.G66V	SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.G66V|SLC5A7_uc010ywn.1_5'UTR	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (choline transporter),	66	Helical; (Potential).				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4					Choline(DB00122)	GTCGGAGGAGGGTATATCAAT	0.383													26	104	---	---	---	---	PASS
SH3RF3	344558	broad.mit.edu	37	2	110015230	110015230	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:110015230A>T	uc010ywt.1	+	4	1130	c.1130A>T	c.(1129-1131)AAG>ATG	p.K377M		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	377							zinc ion binding			ovary(1)	1						AAGAACACCAAGAAACGCCAC	0.597													10	23	---	---	---	---	PASS
FOXD4L1	200350	broad.mit.edu	37	2	114257000	114257000	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114257000A>T	uc002tjw.3	+	1	340	c.167A>T	c.(166-168)CAG>CTG	p.Q56L		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	56					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CAGTCGCTCCAGCCGGGGCTG	0.522													19	57	---	---	---	---	PASS
SLC35F5	80255	broad.mit.edu	37	2	114512771	114512771	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114512771T>C	uc002tku.1	-	3	668	c.244A>G	c.(244-246)ATA>GTA	p.I82V	SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.I76V|SLC35F5_uc002tkw.2_Missense_Mutation_p.I82V	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	82	Helical; (Potential).				transport	integral to membrane					0						GCAACCCATATCACATCAACA	0.423													11	63	---	---	---	---	PASS
PCDP1	200373	broad.mit.edu	37	2	120369312	120369312	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120369312A>G	uc002tmb.2	+	14	1539	c.447A>G	c.(445-447)CAA>CAG	p.Q149Q	PCDP1_uc010yyq.1_Silent_p.Q279Q	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	primary ciliary dyskinesia protein 1	435						cilium	calmodulin binding				0	Colorectal(110;0.196)					TTCGCAATCAAGAAGAGGTGG	0.343													25	47	---	---	---	---	PASS
CNTNAP5	129684	broad.mit.edu	37	2	125504814	125504814	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125504814C>A	uc002tno.2	+	14	2447	c.2083C>A	c.(2083-2085)CCA>ACA	p.P695T	CNTNAP5_uc010flu.2_Missense_Mutation_p.P696T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	695	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGATGGAACACCATTTACCTG	0.532													20	22	---	---	---	---	PASS
MYO7B	4648	broad.mit.edu	37	2	128380938	128380938	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128380938C>A	uc002top.2	+	28	3782	c.3729C>A	c.(3727-3729)GCC>GCA	p.A1243A	MYO7B_uc002toq.1_Silent_p.A96A|MYO7B_uc002tor.1_Silent_p.A96A	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1243	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCAGGTCGCCGTGTACGACA	0.642													5	22	---	---	---	---	PASS
MYO7B	4648	broad.mit.edu	37	2	128389280	128389280	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128389280A>T	uc002top.2	+	37	5176	c.5123A>T	c.(5122-5124)GAC>GTC	p.D1708V	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1708	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCCTCCAGGACGAGGTCTAC	0.672													5	25	---	---	---	---	PASS
WDR33	55339	broad.mit.edu	37	2	128477377	128477377	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128477377T>A	uc002tpg.1	-	16	2405	c.2222A>T	c.(2221-2223)CAG>CTG	p.Q741L		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	741	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AGGTGGTCCCTGCATACCTTG	0.647													30	103	---	---	---	---	PASS
CCDC74B	91409	broad.mit.edu	37	2	130897166	130897166	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130897166C>G	uc002tqm.1	-	8	1167	c.1105G>C	c.(1105-1107)GCA>CCA	p.A369P	CCDC74B_uc010yzw.1_Missense_Mutation_p.A471P|CCDC74B_uc002tqn.1_Missense_Mutation_p.A303P	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	369											0	Colorectal(110;0.1)					TTCTGCATTGCCTGCAGCCTC	0.612													14	21	---	---	---	---	PASS
FAM123C	205147	broad.mit.edu	37	2	131520578	131520578	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131520578C>A	uc002trw.2	+	2	1123	c.933C>A	c.(931-933)GAC>GAA	p.D311E	FAM123C_uc010fmv.2_Missense_Mutation_p.D311E|FAM123C_uc010fms.1_Missense_Mutation_p.D311E|FAM123C_uc010fmt.1_Missense_Mutation_p.D311E|FAM123C_uc010fmu.1_Missense_Mutation_p.D311E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	311										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGTTCTGGGACAGTGTGAATC	0.652													30	46	---	---	---	---	PASS
NCKAP5	344148	broad.mit.edu	37	2	133540424	133540424	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133540424T>G	uc002ttp.2	-	14	4334	c.3960A>C	c.(3958-3960)GAA>GAC	p.E1320D	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1320							protein binding				0						TGGGAGAGCTTTCCGTGGAAG	0.612													3	71	---	---	---	---	PASS
NCKAP5	344148	broad.mit.edu	37	2	133540837	133540837	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133540837C>A	uc002ttp.2	-	14	3921	c.3547G>T	c.(3547-3549)GTG>TTG	p.V1183L	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1183							protein binding				0						TTCACAGCCACGGAACTTTTG	0.483													18	64	---	---	---	---	PASS
NCKAP5	344148	broad.mit.edu	37	2	133547683	133547683	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133547683G>T	uc002ttp.2	-	13	1379	c.1005C>A	c.(1003-1005)AGC>AGA	p.S335R	NCKAP5_uc002ttq.2_Missense_Mutation_p.S335R	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	335	Ser-rich.						protein binding				0						ACAGTTCACTGCTGCTACTGT	0.522													16	30	---	---	---	---	PASS
TMEM163	81615	broad.mit.edu	37	2	135308166	135308166	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135308166C>A	uc002ttx.2	-	4	499	c.433G>T	c.(433-435)GTG>TTG	p.V145L	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	145						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		GCAGAGTGCACAGCGGCCGCG	0.537													30	58	---	---	---	---	PASS
YSK4	80122	broad.mit.edu	37	2	135741288	135741288	+	Silent	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135741288T>C	uc002tue.1	-	8	3211	c.3180A>G	c.(3178-3180)CTA>CTG	p.L1060L	YSK4_uc002tuf.1_Silent_p.L242L|YSK4_uc010fnc.1_Silent_p.L242L|YSK4_uc010fnd.1_Silent_p.L947L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.L788L|YSK4_uc002tui.3_Silent_p.L1077L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Yeast Sps1/Ste20-related kinase 4 isoform 1	1060							ATP binding|protein serine/threonine kinase activity			stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTTGGTCCATAGGATAGGTT	0.348													57	76	---	---	---	---	PASS
NXPH2	11249	broad.mit.edu	37	2	139428622	139428622	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139428622C>A	uc002tvi.2	-	2	665	c.665G>T	c.(664-666)TGG>TTG	p.W222L		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	222	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGAGCACAACCAAGACACATG	0.448													10	53	---	---	---	---	PASS
NXPH2	11249	broad.mit.edu	37	2	139428799	139428799	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:139428799G>T	uc002tvi.2	-	2	488	c.488C>A	c.(487-489)CCC>CAC	p.P163H		NM_007226	NP_009157	O95156	NXPH2_HUMAN	neurexophilin 2 precursor	163	III.				neuropeptide signaling pathway	extracellular region				ovary(3)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(221;0.101)		CACCTTGGAGGGTGGTACCAA	0.443													10	40	---	---	---	---	PASS
LRP1B	53353	broad.mit.edu	37	2	141253291	141253291	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141253291C>A	uc002tvj.1	-	56	9849	c.8877G>T	c.(8875-8877)CTG>CTT	p.L2959L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2959	Extracellular (Potential).|EGF-like 6.				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)		CGTCATCCTTCAGTTGGAATC	0.408										TSP Lung(27;0.18)			8	57	---	---	---	---	PASS
LRP1B	53353	broad.mit.edu	37	2	141571229	141571229	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141571229T>C	uc002tvj.1	-	32	6328	c.5356A>G	c.(5356-5358)ATG>GTG	p.M1786V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1786	Extracellular (Potential).|LDL-receptor class B 17.				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)		CACTTACCCATGATGGTTAGG	0.363										TSP Lung(27;0.18)			36	84	---	---	---	---	PASS
GTDC1	79712	broad.mit.edu	37	2	144899607	144899607	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:144899607C>G	uc002tvp.2	-	6	642	c.363G>C	c.(361-363)GTG>GTC	p.V121V	GTDC1_uc002tvo.2_Silent_p.V121V|GTDC1_uc002tvq.2_Silent_p.V121V|GTDC1_uc002tvr.2_Silent_p.V121V|GTDC1_uc010fnn.2_Silent_p.V121V|GTDC1_uc002tvs.2_Silent_p.V89V|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Silent_p.V121V	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	121					biosynthetic process		transferase activity, transferring glycosyl groups			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TGAATACAACCACATCAGCCA	0.378													27	47	---	---	---	---	PASS
NEB	4703	broad.mit.edu	37	2	152404000	152404000	+	Silent	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152404000A>C	uc010fnx.2	-	105	15398	c.15207T>G	c.(15205-15207)TCT>TCG	p.S5069S	NEB_uc002txr.2_Silent_p.S1492S	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	5069	Nebulin 139.				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)		TGTATGGCAGAGAGATCATGT	0.423													3	16	---	---	---	---	PASS
GALNT13	114805	broad.mit.edu	37	2	155115539	155115539	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155115539C>G	uc002tyr.3	+	8	1430	c.863C>G	c.(862-864)CCT>CGT	p.P288R	GALNT13_uc002tyt.3_Missense_Mutation_p.P288R|GALNT13_uc010foc.1_Missense_Mutation_p.P107R|GALNT13_uc010fod.2_Missense_Mutation_p.P41R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	288	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ACTAGGACCCCTACTATGGCT	0.353													10	47	---	---	---	---	PASS
KCNJ3	3760	broad.mit.edu	37	2	155711481	155711481	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155711481T>A	uc002tyv.1	+	3	1357	c.1162T>A	c.(1162-1164)TGC>AGC	p.C388S	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	388	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	TTCTGTGGAATGCTTAGATGG	0.393													39	167	---	---	---	---	PASS
GALNT5	11227	broad.mit.edu	37	2	158142595	158142595	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158142595G>T	uc002tzg.2	+	3	1945	c.1690G>T	c.(1690-1692)GAG>TAG	p.E564*	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	564	Catalytic subdomain A.|Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4						TCGCCTCAAAGAGAGACATGG	0.348													34	71	---	---	---	---	PASS
CCDC148	130940	broad.mit.edu	37	2	159028705	159028705	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159028705A>G	uc002tzq.2	-	14	1959	c.1696T>C	c.(1696-1698)TAT>CAT	p.Y566H	CCDC148_uc002tzr.2_Missense_Mutation_p.Y414H|CCDC148_uc010foh.2_Missense_Mutation_p.Y279H	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	566										ovary(2)	2						TCTTTAGCATAAAGTGTTCTA	0.323													27	122	---	---	---	---	PASS
BAZ2B	29994	broad.mit.edu	37	2	160304783	160304783	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160304783C>A	uc002uao.2	-	5	824	c.472G>T	c.(472-474)GGA>TGA	p.G158*	BAZ2B_uc002uap.2_Nonsense_Mutation_p.G156*|BAZ2B_uc002uas.1_Nonsense_Mutation_p.G95*|BAZ2B_uc002uau.1_Nonsense_Mutation_p.G156*|BAZ2B_uc002uaq.1_Nonsense_Mutation_p.G86*|BAZ2B_uc002uat.3_Nonsense_Mutation_p.G95*|BAZ2B_uc010fop.1_Nonsense_Mutation_p.G156*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	158	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTACTTTTTCCCGAAGTCCTT	0.378													25	134	---	---	---	---	PASS
LY75	4065	broad.mit.edu	37	2	160741801	160741801	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160741801C>A	uc002ubc.3	-	6	986	c.917G>T	c.(916-918)AGG>ATG	p.R306M	LY75_uc002ubb.3_Missense_Mutation_p.R306M|LY75_uc010fos.2_Missense_Mutation_p.R306M|LY75_uc010fot.1_Missense_Mutation_p.R306M	NM_002349	NP_002340	O60449	LY75_HUMAN	lymphocyte antigen 75 precursor	306	Extracellular (Potential).|C-type lectin 1.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding				0				COAD - Colon adenocarcinoma(177;0.132)		TGCACTGGGCCTGTCTTAAAA	0.428													71	137	---	---	---	---	PASS
SCN3A	6328	broad.mit.edu	37	2	166027021	166027021	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166027021C>A	uc002ucx.2	-	4	794	c.302G>T	c.(301-303)CGA>CTA	p.R101L	SCN3A_uc002ucy.2_Missense_Mutation_p.R101L|SCN3A_uc002ucz.2_Missense_Mutation_p.R101L|SCN3A_uc002uda.1_5'Flank|SCN3A_uc002udb.1_5'Flank	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	101						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)	GGCACTGAATCGGAAAATTGC	0.308													62	65	---	---	---	---	PASS
SCN2A	6326	broad.mit.edu	37	2	166245798	166245798	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166245798C>G	uc002udc.2	+	27	5772	c.5482C>G	c.(5482-5484)CCT>GCT	p.P1828A	SCN2A_uc002udd.2_Missense_Mutation_p.P1828A|SCN2A_uc002ude.2_Missense_Mutation_p.P1828A	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1828					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	CCTGGATCCTCCTCTTCTCAT	0.458													30	134	---	---	---	---	PASS
SCN1A	6323	broad.mit.edu	37	2	166848855	166848855	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166848855C>T	uc010zcz.1	-	26	4915	c.4897G>A	c.(4897-4899)GGC>AGC	p.G1633S		NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1644	Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).|IV.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGATTCGGCCAATCCTAGCA	0.473													32	146	---	---	---	---	PASS
SCN7A	6332	broad.mit.edu	37	2	167301326	167301326	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167301326C>A	uc002udu.1	-	12	1699	c.1572G>T	c.(1570-1572)TTG>TTT	p.L524F	SCN7A_uc010fpm.1_RNA	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	524	Helical; Name=S1 of repeat II; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1						GATAATGCTCCAAGGTCAGAA	0.318													12	15	---	---	---	---	PASS
XIRP2	129446	broad.mit.edu	37	2	168100283	168100283	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168100283G>T	uc002udx.2	+	8	2399	c.2381G>T	c.(2380-2382)GGA>GTA	p.G794V	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G619V|XIRP2_uc010fpq.2_Missense_Mutation_p.G572V|XIRP2_uc010fpr.2_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	619					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						GTTGTCCGAGGAATATCCATG	0.408													25	92	---	---	---	---	PASS
XIRP2	129446	broad.mit.edu	37	2	168104217	168104217	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168104217G>T	uc002udx.2	+	8	6333	c.6315G>T	c.(6313-6315)CTG>CTT	p.L2105L	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1930L|XIRP2_uc010fpq.2_Silent_p.L1883L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1930					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGAGAGAGCTGAAGAAGGATG	0.383													28	45	---	---	---	---	PASS
XIRP2	129446	broad.mit.edu	37	2	168105195	168105195	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168105195G>T	uc002udx.2	+	8	7311	c.7293G>T	c.(7291-7293)AAG>AAT	p.K2431N	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2256N|XIRP2_uc010fpq.2_Missense_Mutation_p.K2209N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2256					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						AACTTCCCAAGCATATAAAAG	0.403													48	74	---	---	---	---	PASS
B3GALT1	8708	broad.mit.edu	37	2	168726221	168726221	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168726221G>A	uc002udz.1	+	2	1023	c.672G>A	c.(670-672)AGG>AGA	p.R224R		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	224	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						ATATGCCCAGGGATTTGTACC	0.478													15	75	---	---	---	---	PASS
LRP2	4036	broad.mit.edu	37	2	170103263	170103263	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170103263C>G	uc002ues.2	-	21	3355	c.3142G>C	c.(3142-3144)GTC>CTC	p.V1048L	LRP2_uc010zdf.1_Missense_Mutation_p.V911L	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1048	LDL-receptor class A 8.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAATCATCGACTCCATCACAG	0.463													69	282	---	---	---	---	PASS
WIPF1	7456	broad.mit.edu	37	2	175437023	175437023	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175437023C>A	uc002uiy.2	-	6	842	c.510G>T	c.(508-510)CCG>CCT	p.P170P	uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Silent_p.P170P|WIPF1_uc010fqt.1_Silent_p.P170P|WIPF1_uc002ujc.1_Silent_p.P170P|WIPF1_uc002uiz.2_Silent_p.P170P|WIPF1_uc002ujb.1_Silent_p.P170P|WIPF1_uc010zep.1_Silent_p.P170P	NM_003387	NP_003378	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	170					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			ovary(1)|skin(1)	2						GCCTTGGGGGCGGCATTCGGT	0.602													36	99	---	---	---	---	PASS
HOXD12	3238	broad.mit.edu	37	2	176965022	176965022	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176965022G>T	uc010zev.1	+	1	493	c.493G>T	c.(493-495)GAC>TAC	p.D165Y	HOXD12_uc010zew.1_Missense_Mutation_p.D165Y	NM_021193	NP_067016	P35452	HXD12_HUMAN	homeobox D12	165						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CTTCAAGGACGACACCAAGGG	0.652													14	36	---	---	---	---	PASS
MIR1246	100302142	broad.mit.edu	37	2	177465737	177465737	+	RNA	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:177465737G>T	hsa-mir-1246|MI0006381	-			c.44G>T																				0						atttcctttgggtcaggtgtc	0.189													56	252	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179431400	179431400	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179431400T>C	uc010zfg.1	-	275	71979	c.71755A>G	c.(71755-71757)AAA>GAA	p.K23919E	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K17614E|TTN_uc010zfi.1_Missense_Mutation_p.K17547E|TTN_uc010zfj.1_Missense_Mutation_p.K17422E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24846							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)			GGGCCAGGTTTGAACACAGGA	0.453													140	198	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179434750	179434750	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179434750A>G	uc010zfg.1	-	275	68629	c.68405T>C	c.(68404-68406)ATA>ACA	p.I22802T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I16497T|TTN_uc010zfi.1_Missense_Mutation_p.I16430T|TTN_uc010zfj.1_Missense_Mutation_p.I16305T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23729							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)			GTGATTTTCTATGAGTCCAGT	0.438													23	68	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179437167	179437167	+	Silent	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179437167T>C	uc010zfg.1	-	275	66212	c.65988A>G	c.(65986-65988)AAA>AAG	p.K21996K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.K15691K|TTN_uc010zfi.1_Silent_p.K15624K|TTN_uc010zfj.1_Silent_p.K15499K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22923							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)			TTGAATATGCTTTTCTTGTTG	0.428													21	56	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179439252	179439252	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179439252A>T	uc010zfg.1	-	275	64127	c.63903T>A	c.(63901-63903)AAT>AAA	p.N21301K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N14996K|TTN_uc010zfi.1_Missense_Mutation_p.N14929K|TTN_uc010zfj.1_Missense_Mutation_p.N14804K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22228							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)			AGAGAATACCATTTCGTTCTT	0.418													56	251	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179486603	179486603	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179486603T>C	uc010zfg.1	-	193	37566	c.37342A>G	c.(37342-37344)AGG>GGG	p.R12448G	TTN_uc010zfh.1_Missense_Mutation_p.R6143G|TTN_uc010zfi.1_Missense_Mutation_p.R6076G|TTN_uc010zfj.1_Missense_Mutation_p.R5951G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13375							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)			CTCGCTGTCCTTACTTCACAG	0.383													13	61	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179585181	179585181	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179585181C>T	uc010zfg.1	-	77	19800	c.19576G>A	c.(19576-19578)GGG>AGG	p.G6526R	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3187R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7453							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)			TGATATTCCCCGACATCGGAG	0.373													39	137	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179605898	179605898	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179605898G>T	uc010zfh.1	-	46	11773	c.11549C>A	c.(11548-11550)ACC>AAC	p.T3850N	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3783N|TTN_uc010zfj.1_Missense_Mutation_p.T3658N|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTGCACAGGTGGACTCACC	0.493													28	136	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179611228	179611228	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179611228G>T	uc002unb.2	-	46	16123	c.15899C>A	c.(15898-15900)ACA>AAA	p.T5300K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGATGATGTGGTGTGTTC	0.403													19	71	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179640772	179640772	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179640772C>G	uc010zfg.1	-	28	6043	c.5819G>C	c.(5818-5820)AGG>ACG	p.R1940T	TTN_uc010zfh.1_Missense_Mutation_p.R1894T|TTN_uc010zfi.1_Missense_Mutation_p.R1894T|TTN_uc010zfj.1_Missense_Mutation_p.R1894T|TTN_uc002unb.2_Missense_Mutation_p.R1940T|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1940							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)			AGGAGCTCTCCTAAGGACAGA	0.453													58	222	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179644907	179644907	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179644907G>C	uc010zfg.1	-	22	3773	c.3549C>G	c.(3547-3549)TCC>TCG	p.S1183S	TTN_uc010zfh.1_Silent_p.S1137S|TTN_uc010zfi.1_Silent_p.S1137S|TTN_uc010zfj.1_Silent_p.S1137S|TTN_uc002unb.2_Silent_p.S1183S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1183							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)			TTTCTTGCTGGGACTTCATCA	0.328													26	105	---	---	---	---	PASS
TTN	7273	broad.mit.edu	37	2	179658139	179658139	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179658139G>C	uc010zfg.1	-	9	1752	c.1528C>G	c.(1528-1530)CAT>GAT	p.H510D	TTN_uc010zfh.1_Missense_Mutation_p.H510D|TTN_uc010zfi.1_Missense_Mutation_p.H510D|TTN_uc010zfj.1_Missense_Mutation_p.H510D|TTN_uc002unb.2_Missense_Mutation_p.H510D|TTN_uc010frg.1_Missense_Mutation_p.H184D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	510							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)			ACCTGCTCATGAGTTACGTGC	0.403													127	179	---	---	---	---	PASS
CERKL	375298	broad.mit.edu	37	2	182409456	182409456	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182409456G>T	uc002unx.2	-	12	1515	c.1414C>A	c.(1414-1416)CTG>ATG	p.L472M	CERKL_uc002uny.2_Missense_Mutation_p.L446M|CERKL_uc010zfm.1_Missense_Mutation_p.L428M|CERKL_uc002unz.2_Missense_Mutation_p.L194M|CERKL_uc002uoa.2_Missense_Mutation_p.L377M|CERKL_uc002uob.2_Missense_Mutation_p.L194M|CERKL_uc002uoc.2_Missense_Mutation_p.L333M|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Missense_Mutation_p.L241M|CERKL_uc002unw.2_Missense_Mutation_p.L42M	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	ceramide kinase-like isoform b	472					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TATCTTTTCAGGTGTTTTATA	0.294													41	48	---	---	---	---	PASS
ZNF804A	91752	broad.mit.edu	37	2	185802585	185802585	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:185802585C>G	uc002uph.2	+	4	3056	c.2462C>G	c.(2461-2463)CCC>CGC	p.P821R		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						AGATTCCACCCCGGATTTGAA	0.388													26	59	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	2	186678561	186678561	+	RNA	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186678561C>G	uc002upm.2	+	2		c.3199C>G			uc010zfu.1_Missense_Mutation_p.T1204R					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																		ACACTAAGCACGAGCAGCCTG	0.358													32	39	---	---	---	---	PASS
ITGAV	3685	broad.mit.edu	37	2	187521118	187521118	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187521118C>T	uc002upq.2	+	17	1985	c.1709C>T	c.(1708-1710)GCG>GTG	p.A570V	ITGAV_uc010frs.2_Missense_Mutation_p.A534V|ITGAV_uc010zfv.1_Missense_Mutation_p.A524V	NM_002210	NP_002201	P06756	ITAV_HUMAN	integrin alpha-V isoform 1 precursor	570	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GAATTGATAGCGTATCTGCGG	0.403													94	142	---	---	---	---	PASS
TMEFF2	23671	broad.mit.edu	37	2	193049220	193049220	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:193049220C>A	uc002utc.2	-						TMEFF2_uc002utd.1_Intron	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two							extracellular region|integral to membrane				lung(2)|pancreas(1)|breast(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTGGGAAACACACAGATGTAA	0.433													23	34	---	---	---	---	PASS
BOLL	66037	broad.mit.edu	37	2	198650719	198650719	+	5'Flank	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198650719G>T	uc002uus.2	-						BOLL_uc002uur.2_5'Flank|BOLL_uc002uut.2_Silent_p.T3T|BOLL_uc010zha.1_5'UTR|BOLL_uc002uuu.1_5'Flank	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2						cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						GCCCGGACTCGGTTTCCATCT	0.627													7	32	---	---	---	---	PASS
SGOL2	151246	broad.mit.edu	37	2	201438624	201438624	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201438624A>T	uc002uvw.2	+	7	3668	c.3555A>T	c.(3553-3555)CAA>CAT	p.Q1185H	SGOL2_uc010zhd.1_Missense_Mutation_p.Q1185H|SGOL2_uc010zhe.1_Missense_Mutation_p.Q1185H	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	1185					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4						CAGCCTTTCAAGTAAGTGATG	0.363													55	79	---	---	---	---	PASS
AOX1	316	broad.mit.edu	37	2	201515773	201515773	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201515773A>T	uc002uvx.2	+	26	3025	c.2924A>T	c.(2923-2925)CAG>CTG	p.Q975L	AOX1_uc010zhf.1_Missense_Mutation_p.Q531L|AOX1_uc010fsu.2_Missense_Mutation_p.Q341L	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	975					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACCTAATCCAGTGTTGGAGA	0.398													35	123	---	---	---	---	PASS
CASP10	843	broad.mit.edu	37	2	202074132	202074132	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202074132A>T	uc002uxl.1	+	9	1680	c.1262A>T	c.(1261-1263)CAG>CTG	p.Q421L	CASP10_uc002uxj.1_Missense_Mutation_p.Q421L|CASP10_uc002uxk.1_Missense_Mutation_p.Q378L|CASP10_uc010fta.1_Missense_Mutation_p.Q354L|CASP10_uc002uxm.1_Missense_Mutation_p.Q378L|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	421					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						AACCCTGAGCAGGCACCCACT	0.527													65	110	---	---	---	---	PASS
ZDBF2	57683	broad.mit.edu	37	2	207172542	207172542	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207172542G>T	uc002vbp.2	+	5	3540	c.3290G>T	c.(3289-3291)TGG>TTG	p.W1097L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1097	Potential.						nucleic acid binding|zinc ion binding			ovary(3)	3						ATAGACCAATGGAAGGAAGAG	0.323													20	51	---	---	---	---	PASS
MDH1B	130752	broad.mit.edu	37	2	207625738	207625738	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207625738C>A	uc002vbs.2	-	2	78	c.23_splice	c.e2-1	p.G8_splice	MDH1B_uc010ziw.1_Splice_Site|MDH1B_uc010fui.2_Splice_Site_p.G8_splice|MDH1B_uc010fuj.2_Intron|MDH1B_uc002vbt.2_Splice_Site	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)						carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			ovary(3)|kidney(1)	4				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TCTGCTCTACCTAAAAGAGTT	0.308													83	107	---	---	---	---	PASS
ERBB4	2066	broad.mit.edu	37	2	212248595	212248595	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212248595G>T	uc002veg.1	-	28	3770	c.3672C>A	c.(3670-3672)AAC>AAA	p.N1224K	ERBB4_uc002veh.1_Missense_Mutation_p.N1208K|ERBB4_uc010zji.1_Missense_Mutation_p.N1214K|ERBB4_uc010zjj.1_Missense_Mutation_p.N1198K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1224	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAGTATGTTGTTCTTCAGGT	0.522										TSP Lung(8;0.080)			48	204	---	---	---	---	PASS
ERBB4	2066	broad.mit.edu	37	2	212295689	212295689	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:212295689T>A	uc002veg.1	-	21	2722	c.2624A>T	c.(2623-2625)TAC>TTC	p.Y875F	ERBB4_uc002veh.1_Missense_Mutation_p.Y875F|ERBB4_uc010zji.1_Missense_Mutation_p.Y865F|ERBB4_uc010zjj.1_Missense_Mutation_p.Y865F	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	875	Protein kinase.|Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATCAGCATTGTACTCTTTTTC	0.378										TSP Lung(8;0.080)			33	132	---	---	---	---	PASS
ABCA12	26154	broad.mit.edu	37	2	215884167	215884167	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215884167A>T	uc002vew.2	-	13	1770	c.1550T>A	c.(1549-1551)CTA>CAA	p.L517Q	ABCA12_uc002vev.2_Missense_Mutation_p.L199Q|ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	517					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCCTGTTCTAGAAACCTGGA	0.343													24	111	---	---	---	---	PASS
TTLL4	9654	broad.mit.edu	37	2	219613660	219613660	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219613660G>T	uc002viy.2	+						TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Intron|TTLL4_uc010zkm.1_Intron	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4						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)		ATCATCTCGTGAGTCACATTG	0.532													10	40	---	---	---	---	PASS
PRKAG3	53632	broad.mit.edu	37	2	219694976	219694976	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219694976C>A	uc002vjb.1	-	4	377	c.358G>T	c.(358-360)GAC>TAC	p.D120Y	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Missense_Mutation_p.D120Y|PRKAG3_uc010zko.1_Missense_Mutation_p.D116Y	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	120					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGTACAGTCAGAGGGGAGG	0.637													14	35	---	---	---	---	PASS
CCDC108	255101	broad.mit.edu	37	2	219870807	219870807	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219870807C>A	uc002vjl.1	-	31	4942	c.4858G>T	c.(4858-4860)GCC>TCC	p.A1620S		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	1620						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCATGGGCTCGGGCAGTA	0.607													9	68	---	---	---	---	PASS
PTPRN	5798	broad.mit.edu	37	2	220161834	220161834	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220161834C>A	uc002vkz.2	-	15	2198	c.2109G>T	c.(2107-2109)CTG>CTT	p.L703L	PTPRN_uc010zlc.1_Silent_p.L613L|PTPRN_uc002vla.2_Silent_p.L674L|uc010zld.1_5'Flank|MIR153-1_hsa-mir-153-1|MI0000463_5'Flank	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	703	Cytoplasmic (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCGGTTCCGCAGGTGATCCT	0.632													19	20	---	---	---	---	PASS
DES	1674	broad.mit.edu	37	2	220285300	220285300	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220285300C>A	uc002vll.2	+	4	905	c.819C>A	c.(817-819)GCC>GCA	p.A273A		NM_001927	NP_001918	P17661	DESM_HUMAN	desmin	273	Rod.|Coil 2A.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCACTGCCGCCCTCAGGGACA	0.587													39	33	---	---	---	---	PASS
DES	1674	broad.mit.edu	37	2	220285540	220285540	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220285540C>A	uc002vll.2	+							NM_001927	NP_001918	P17661	DESM_HUMAN	desmin						cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			central_nervous_system(2)	2		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCCCTTTCTCTGCCCTTAGG	0.582													6	45	---	---	---	---	PASS
OBSL1	23363	broad.mit.edu	37	2	220422698	220422698	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220422698C>A	uc010fwk.2	-	11	3694	c.3637G>T	c.(3637-3639)GTG>TTG	p.V1213L	OBSL1_uc002vmh.1_Missense_Mutation_p.V204L|OBSL1_uc010zli.1_Missense_Mutation_p.V112L|OBSL1_uc010fwl.1_Missense_Mutation_p.V688L	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1213	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCTCCTGCACGGGCCTCCCA	0.701													6	18	---	---	---	---	PASS
SLC4A3	6508	broad.mit.edu	37	2	220494051	220494051	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220494051G>C	uc002vmp.3	+	4	672	c.403G>C	c.(403-405)GAT>CAT	p.D135H	SLC4A3_uc002vmn.2_Missense_Mutation_p.D135H|SLC4A3_uc002vmo.3_Missense_Mutation_p.D135H|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	135	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAGTggatgaggaaga	0.527													19	17	---	---	---	---	PASS
SLC4A3	6508	broad.mit.edu	37	2	220500081	220500081	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220500081C>T	uc002vmp.3	+	13	2104	c.1835C>T	c.(1834-1836)CCC>CTC	p.P612L	SLC4A3_uc002vmo.3_Missense_Mutation_p.P639L|SLC4A3_uc010fwm.2_Missense_Mutation_p.P162L|SLC4A3_uc010fwn.1_Missense_Mutation_p.P121L	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	612	Cytoplasmic.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATTGTGATCCCCCCGTCCGAG	0.612													28	66	---	---	---	---	PASS
SPHKAP	80309	broad.mit.edu	37	2	228860331	228860331	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228860331G>T	uc002vpq.2	-	8	4575	c.4528C>A	c.(4528-4530)CCA>ACA	p.P1510T	SPHKAP_uc002vpp.2_Missense_Mutation_p.P1510T|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1510						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)		CTGCTGCTTGGAGGGTTGGGG	0.557													25	95	---	---	---	---	PASS
SPHKAP	80309	broad.mit.edu	37	2	228882714	228882714	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228882714G>T	uc002vpq.2	-	7	2903	c.2856C>A	c.(2854-2856)TCC>TCA	p.S952S	SPHKAP_uc002vpp.2_Silent_p.S952S|SPHKAP_uc010zlx.1_Silent_p.S952S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	952						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)		GTTTTCCACTGGAGTTGTCAA	0.483													48	148	---	---	---	---	PASS
SPHKAP	80309	broad.mit.edu	37	2	228883481	228883481	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228883481G>A	uc002vpq.2	-	7	2136	c.2089C>T	c.(2089-2091)CAT>TAT	p.H697Y	SPHKAP_uc002vpp.2_Missense_Mutation_p.H697Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.H697Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	697						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)		TCAGATGAATGCCTGTTGTCA	0.398													63	264	---	---	---	---	PASS
SPHKAP	80309	broad.mit.edu	37	2	228886692	228886692	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228886692G>T	uc002vpq.2	-						SPHKAP_uc002vpp.2_Intron|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein							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)		ACTAAAAGTGGAGAGAAAAGA	0.423													13	47	---	---	---	---	PASS
DNER	92737	broad.mit.edu	37	2	230223351	230223351	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230223351G>A	uc002vpv.2	-	13	2266	c.2119C>T	c.(2119-2121)CGG>TGG	p.R707W		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	delta-notch-like EGF repeat-containing	707	Cytoplasmic (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)		ATTGCAGGCCGGGATTTCTTT	0.363													20	87	---	---	---	---	PASS
CHRND	1144	broad.mit.edu	37	2	233396137	233396137	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233396137T>A	uc002vsw.2	+	8	900	c.896T>A	c.(895-897)CTG>CAG	p.L299Q	CHRND_uc010zmg.1_Missense_Mutation_p.L284Q|CHRND_uc010fyc.2_Missense_Mutation_p.L172Q|CHRND_uc010zmh.1_Missense_Mutation_p.L105Q	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	299	Helical; (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TCCAAGCGTCTGCCTGCCACA	0.607													33	55	---	---	---	---	PASS
IQCA1	79781	broad.mit.edu	37	2	237272468	237272468	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237272468G>T	uc002vvz.1	-	15	2006	c.1824C>A	c.(1822-1824)TAC>TAA	p.Y608*	IQCA1_uc002vwb.2_Nonsense_Mutation_p.Y616*|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Nonsense_Mutation_p.Y567*	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	608							ATP binding			ovary(1)	1						TTTTGCCAGGGTATTTCCCAG	0.473													84	79	---	---	---	---	PASS
COL6A3	1293	broad.mit.edu	37	2	238243328	238243328	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238243328G>A	uc002vwl.2	-	41	9455	c.9170C>T	c.(9169-9171)GCT>GTT	p.A3057V	COL6A3_uc002vwo.2_Missense_Mutation_p.A2851V|COL6A3_uc010znj.1_Missense_Mutation_p.A2450V|COL6A3_uc002vwj.2_Missense_Mutation_p.A438V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	3057	Fibronectin type-III.|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)		GCAGACCACAGCCACATGGTA	0.537													24	50	---	---	---	---	PASS
HDAC4	9759	broad.mit.edu	37	2	239990258	239990258	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239990258C>A	uc002vyk.3	-	23	3573	c.2781G>T	c.(2779-2781)GTG>GTT	p.V927V	HDAC4_uc010fyy.2_Silent_p.V884V	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	927	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ATGACACCAGCACCACATCCG	0.597													30	59	---	---	---	---	PASS
ANKMY1	51281	broad.mit.edu	37	2	241468696	241468696	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241468696C>A	uc002vyz.1	-	4	673	c.444G>T	c.(442-444)CAG>CAT	p.Q148H	ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Missense_Mutation_p.Q237H|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	148							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AAAAGGGATCCTGTCCCTCCT	0.517													19	54	---	---	---	---	PASS
CAPN10	11132	broad.mit.edu	37	2	241528825	241528825	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241528825G>C	uc002vzk.1	+	2	391	c.207G>C	c.(205-207)CTG>CTC	p.L69L	CAPN10_uc010zoh.1_Silent_p.L69L|CAPN10_uc002vzl.1_Silent_p.L69L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_5'UTR|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Silent_p.L69L	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10 isoform a	69	Calpain catalytic.				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)		AGCAGGGGCTGCTGGGGGATT	0.607													94	126	---	---	---	---	PASS
PASK	23178	broad.mit.edu	37	2	242066238	242066238	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242066238C>G	uc002wao.1	-	10	2184	c.2092G>C	c.(2092-2094)GAT>CAT	p.D698H	PASK_uc010zol.1_Missense_Mutation_p.D512H|PASK_uc010zom.1_Missense_Mutation_p.D663H|PASK_uc010fzl.1_Missense_Mutation_p.D698H|PASK_uc010zon.1_Missense_Mutation_p.D479H|PASK_uc002wap.2_Missense_Mutation_p.D241H|PASK_uc002waq.2_Missense_Mutation_p.D698H	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	698					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCTCCCAGATCGCAGGACGAC	0.667													58	104	---	---	---	---	PASS
CNTN4	152330	broad.mit.edu	37	3	2908472	2908472	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:2908472C>A	uc003bpc.2	+	7	712	c.491C>A	c.(490-492)TCC>TAC	p.S164Y	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.S164Y	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	164	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATACCCTTCCTATCAGGAT	0.383													105	94	---	---	---	---	PASS
GRM7	2917	broad.mit.edu	37	3	7456800	7456800	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:7456800A>T	uc003bqm.2	+	5	1398	c.1124A>T	c.(1123-1125)AAG>ATG	p.K375M	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.K375M|GRM7_uc003bql.2_Missense_Mutation_p.K375M|GRM7_uc003bqn.1_Translation_Start_Site	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	375	Extracellular (Potential).				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	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TTCAACTGCAAGTTGACGATT	0.413													64	46	---	---	---	---	PASS
FGD5	152273	broad.mit.edu	37	3	14964614	14964614	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14964614C>A	uc003bzc.2	+	16	3979	c.3869C>A	c.(3868-3870)GCC>GAC	p.A1290D	FGD5_uc011avk.1_Missense_Mutation_p.A1290D|FGD5_uc003bzd.2_Missense_Mutation_p.A368D	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1290	FYVE-type.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GACAGGATGGCCAAGGTCTGC	0.607													39	38	---	---	---	---	PASS
ZCWPW2	152098	broad.mit.edu	37	3	28454649	28454649	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:28454649G>T	uc003ceh.2	+	3	258	c.90G>T	c.(88-90)TGG>TGT	p.W30C	ZCWPW2_uc003cei.2_Missense_Mutation_p.W30C	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	30	CW-type.						zinc ion binding			ovary(2)	2						ACAAAGTGTGGGTTCAATGTG	0.338													60	66	---	---	---	---	PASS
RBMS3	27303	broad.mit.edu	37	3	30032588	30032588	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:30032588A>T	uc003cel.2	+	14	1425	c.1195A>T	c.(1195-1197)ACC>TCC	p.T399S	RBMS3_uc003cek.2_Missense_Mutation_p.T383S|RBMS3_uc010hfq.2_Missense_Mutation_p.T396S|RBMS3_uc003cem.2_Missense_Mutation_p.T381S|RBMS3_uc010hfr.2_Missense_Mutation_p.T383S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting	399						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)	1		Ovarian(412;0.0956)				TGTTGCTGATACCTCTCCCCA	0.483													35	23	---	---	---	---	PASS
PDCD6IP	10015	broad.mit.edu	37	3	33877570	33877570	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33877570G>T	uc003cfx.2	+	8	1024	c.869G>T	c.(868-870)CGC>CTC	p.R290L	PDCD6IP_uc003cfy.2_Missense_Mutation_p.R295L|PDCD6IP_uc011axw.1_Missense_Mutation_p.R71L	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	290	Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			ovary(1)|skin(1)	2						GTGGCATCTCGCTATGATGAA	0.358													98	97	---	---	---	---	PASS
OXSR1	9943	broad.mit.edu	37	3	38271889	38271889	+	Nonsense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38271889A>T	uc003chy.2	+	10	1261	c.919A>T	c.(919-921)AGA>TGA	p.R307*	OXSR1_uc010hhb.2_Nonsense_Mutation_p.R241*|OXSR1_uc010hha.1_Nonsense_Mutation_p.R239*	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	307					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AACATTGCAGAGAGCACCAAC	0.284													80	55	---	---	---	---	PASS
SCN5A	6331	broad.mit.edu	37	3	38603979	38603979	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38603979C>A	uc003cio.2	-	22	4084	c.3890G>T	c.(3889-3891)GGC>GTC	p.G1297V	SCN5A_uc003cin.2_Missense_Mutation_p.G1296V|SCN5A_uc003cil.3_Missense_Mutation_p.G1297V|SCN5A_uc010hhi.2_Missense_Mutation_p.G1297V|SCN5A_uc010hhk.2_Missense_Mutation_p.G1296V|SCN5A_uc011ayr.1_Missense_Mutation_p.G1243V|SCN5A_uc010hhj.1_Missense_Mutation_p.G907V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1297	Helical; Voltage-sensor; Name=S4 of repeat III; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGATGGGGCCCATCTCGGC	0.602													18	12	---	---	---	---	PASS
SCN5A	6331	broad.mit.edu	37	3	38616872	38616872	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38616872C>T	uc003cio.2	-	20	3776	c.3582G>A	c.(3580-3582)TTG>TTA	p.L1194L	SCN5A_uc003cin.2_Silent_p.L1193L|SCN5A_uc003cil.3_Silent_p.L1194L|SCN5A_uc010hhi.2_Silent_p.L1194L|SCN5A_uc010hhk.2_Silent_p.L1193L|SCN5A_uc011ayr.1_Silent_p.L1140L|SCN5A_uc010hhj.1_Silent_p.L804L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1194					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGTCTTGCGCAACCGCCACC	0.612													8	4	---	---	---	---	PASS
SCN5A	6331	broad.mit.edu	37	3	38639229	38639229	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38639229G>A	uc003cio.2	-	14	2447	c.2253C>T	c.(2251-2253)GTC>GTT	p.V751V	SCN5A_uc003cin.2_Silent_p.V751V|SCN5A_uc003cil.3_Silent_p.V751V|SCN5A_uc010hhi.2_Silent_p.V751V|SCN5A_uc010hhk.2_Silent_p.V751V|SCN5A_uc011ayr.1_Silent_p.V751V|SCN5A_uc010hhj.1_Silent_p.V362V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	751	Helical; Name=S2 of repeat II; (Potential).				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCAGGTTTCCGACCTGCAGCA	0.547													35	28	---	---	---	---	PASS
SCN11A	11280	broad.mit.edu	37	3	38888717	38888717	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38888717T>A	uc011ays.1	-	26	5043	c.4844A>T	c.(4843-4845)GAG>GTG	p.E1615V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1615					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAGGGTCCTCACTTTCTTC	0.373													81	75	---	---	---	---	PASS
TTC21A	199223	broad.mit.edu	37	3	39167842	39167842	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39167842G>C	uc003cjc.2	+	12	1684	c.1507G>C	c.(1507-1509)GAC>CAC	p.D503H	TTC21A_uc003cje.2_Missense_Mutation_p.D503H|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.D454H	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	503	TPR 7.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGCTCTGATCGACCCCCTGTA	0.542													70	53	---	---	---	---	PASS
LARS2	23395	broad.mit.edu	37	3	45458977	45458977	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45458977A>G	uc003cop.1	+	5	552	c.367A>G	c.(367-369)ATC>GTC	p.I123V	LARS2_uc010hit.1_Missense_Mutation_p.I80V	NM_015340	NP_056155	Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	123					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GTCCTAGGTCATCAACCCCAT	0.458													89	58	---	---	---	---	PASS
SMARCC1	6599	broad.mit.edu	37	3	47742767	47742767	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47742767C>A	uc003crq.2	-	11	1283	c.1165_splice	c.e11+1	p.V389_splice	SMARCC1_uc011bbd.1_Splice_Site_p.V280_splice	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	SWI/SNF-related matrix-associated						chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			skin(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		AGAATACAAACCATTTTTGGG	0.398													54	46	---	---	---	---	PASS
PARP3	10039	broad.mit.edu	37	3	51978871	51978871	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51978871C>T	uc003dby.2	+	5	950	c.579C>T	c.(577-579)ATC>ATT	p.I193I	RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Silent_p.I200I	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	193	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGCTCATCACTAACATCT	0.607													23	20	---	---	---	---	PASS
DNAH1	25981	broad.mit.edu	37	3	52356484	52356484	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52356484A>G	uc011bef.1	+	2	287	c.26A>G	c.(25-27)TAT>TGT	p.Y9C	DNAH1_uc003ddt.1_Missense_Mutation_p.Y9C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	9	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTAAAGGCTATAGCCTGGGA	0.597													14	16	---	---	---	---	PASS
STAB1	23166	broad.mit.edu	37	3	52544007	52544007	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52544007G>A	uc003dej.2	+	23	2543	c.2469G>A	c.(2467-2469)GGG>GGA	p.G823G		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	823	EGF-like 6.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGACTGTGGGCCCACAGGGC	0.677													54	43	---	---	---	---	PASS
ITIH4	3700	broad.mit.edu	37	3	52855104	52855104	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52855104C>T	uc003dfz.2	-	12	1618	c.1582G>A	c.(1582-1584)GAG>AAG	p.E528K	ITIH4_uc011bel.1_Missense_Mutation_p.E258K|ITIH4_uc003dfy.2_Missense_Mutation_p.E392K|ITIH4_uc011bem.1_Missense_Mutation_p.E528K|ITIH4_uc011ben.1_Missense_Mutation_p.E528K	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	inter-alpha (globulin) inhibitor H4	528					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCCTCCTGCTCTGCCACACTG	0.577											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	70	---	---	---	---	PASS
FLNB	2317	broad.mit.edu	37	3	58131689	58131689	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:58131689A>T	uc003djj.2	+	33	5632	c.5467A>T	c.(5467-5469)AGT>TGT	p.S1823C	FLNB_uc010hne.2_Missense_Mutation_p.S1854C|FLNB_uc003djk.2_Missense_Mutation_p.S1812C|FLNB_uc010hnf.2_Missense_Mutation_p.S1799C|FLNB_uc003djl.2_Missense_Mutation_p.S1643C|FLNB_uc003djm.2_Missense_Mutation_p.S1630C	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1823	Filamin 17.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAACAGTGGAAGTGTTTCTGC	0.507													73	67	---	---	---	---	PASS
PRICKLE2	166336	broad.mit.edu	37	3	64138884	64138884	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64138884T>A	uc003dmf.2	-	6	1347	c.761A>T	c.(760-762)TAT>TTT	p.Y254F		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	254	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGTGTCACAATATTCTGCATA	0.498													98	93	---	---	---	---	PASS
SHQ1	55164	broad.mit.edu	37	3	72891501	72891501	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:72891501C>A	uc003dpf.2	-	3	368	c.261G>T	c.(259-261)GGG>GGT	p.G87G	SHQ1_uc010hod.2_5'UTR	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	SHQ1 homolog	87	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			ovary(2)|large_intestine(1)	3		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		ACATGTTCAGCCCCTCAAAAT	0.363													4	113	---	---	---	---	PASS
VGLL3	389136	broad.mit.edu	37	3	87027808	87027808	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:87027808A>G	uc003dqn.2	-	2	635	c.271T>C	c.(271-273)TTC>CTC	p.F91L		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	91					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)		AAATAAGTGAAAAGGACACAG	0.403													47	40	---	---	---	---	PASS
VGLL3	389136	broad.mit.edu	37	3	87027868	87027868	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:87027868C>T	uc003dqn.2	-	2	575	c.211G>A	c.(211-213)GAG>AAG	p.E71K		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	71					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)		tcctcctcctcctcctcctca	0.393													28	22	---	---	---	---	PASS
MINA	84864	broad.mit.edu	37	3	97677934	97677934	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97677934C>T	uc003drz.1	-	4	1148	c.642G>A	c.(640-642)GAG>GAA	p.E214E	MINA_uc003dsa.1_Silent_p.E214E|MINA_uc003dsb.1_Silent_p.E214E|MINA_uc003dsc.1_Silent_p.E214E|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_RNA	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen isoform a	214	JmjC.				ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1						CGATCCTTTCCTCGGCCTCCA	0.552													28	21	---	---	---	---	PASS
OR5K3	403277	broad.mit.edu	37	3	98109766	98109766	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98109766T>A	uc011bgw.1	+	1	257	c.257T>A	c.(256-258)TTT>TAT	p.F86Y		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K,	86	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GAGAACTTCTTTTCTGAGGAC	0.413													280	186	---	---	---	---	PASS
CCDC54	84692	broad.mit.edu	37	3	107097325	107097325	+	Silent	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107097325T>G	uc003dwi.1	+	1	1138	c.891T>G	c.(889-891)ACT>ACG	p.T297T		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	297											0						GTCCATTCACTGGGCCCATTT	0.423													92	59	---	---	---	---	PASS
PLCXD2	257068	broad.mit.edu	37	3	111426998	111426998	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111426998T>C	uc003dya.2	+	2	975	c.389T>C	c.(388-390)TTC>TCC	p.F130S	PLCXD2_uc003dyb.2_Missense_Mutation_p.F130S|PLCXD2_uc003dxz.2_Missense_Mutation_p.F130S	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	130	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(1)	1						GAGATCTACTTCATCCATGGG	0.502													153	73	---	---	---	---	PASS
CD200R1L	344807	broad.mit.edu	37	3	112546014	112546014	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112546014C>A	uc003dzi.1	-	4	731	c.505G>T	c.(505-507)GCC>TCC	p.A169S	CD200R1L_uc011bhw.1_Missense_Mutation_p.A148S|CD200R1L_uc010hqf.1_Missense_Mutation_p.A148S	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	169	Extracellular (Potential).|Ig-like C2-type.					integral to membrane	receptor activity			ovary(1)	1						GAGATCTGGGCAGCTGGCTTC	0.493													35	19	---	---	---	---	PASS
STXBP5L	9515	broad.mit.edu	37	3	120941900	120941900	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120941900G>T	uc003eec.3	+	11	1147	c.1007G>T	c.(1006-1008)AGA>ATA	p.R336I	STXBP5L_uc011bji.1_Missense_Mutation_p.R336I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	336	WD 6.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AAAGCTTGTAGAAGACCAAGT	0.368													115	86	---	---	---	---	PASS
KALRN	8997	broad.mit.edu	37	3	124201667	124201667	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124201667C>A	uc003ehg.2	+	28	4325	c.4198C>A	c.(4198-4200)CGG>AGG	p.R1400R	KALRN_uc010hrv.1_Silent_p.R1391R|KALRN_uc003ehf.1_Silent_p.R1400R|KALRN_uc011bjy.1_Silent_p.R1391R|KALRN_uc003ehh.1_Silent_p.R746R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	1400	DH 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						GATACAACAGCGGCATGGTCT	0.507													75	59	---	---	---	---	PASS
CLSTN2	64084	broad.mit.edu	37	3	140282882	140282882	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:140282882G>T	uc003etn.2	+	16	2752	c.2562G>T	c.(2560-2562)CGG>CGT	p.R854R		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	854	Cytoplasmic (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						GTGTGTACCGGGTCCGGATCG	0.547										HNSCC(16;0.037)			130	74	---	---	---	---	PASS
ZIC1	7545	broad.mit.edu	37	3	147128169	147128169	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147128169C>T	uc003ewe.2	+	1	989	c.270C>T	c.(268-270)TCC>TCT	p.S90S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	90					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCTCCTATTCCAGCGCAGCCT	0.687													8	35	---	---	---	---	PASS
AGTR1	185	broad.mit.edu	37	3	148459207	148459207	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148459207G>T	uc003ewg.2	+	4	831	c.385G>T	c.(385-387)GCT>TCT	p.A129S	AGTR1_uc003ewh.2_Missense_Mutation_p.A129S|AGTR1_uc003ewi.2_Missense_Mutation_p.A129S|AGTR1_uc003ewj.2_Missense_Mutation_p.A129S|AGTR1_uc003ewk.2_Missense_Mutation_p.A129S	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	129	Cytoplasmic (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCGATACCTGGCTATTGTTCA	0.493													131	131	---	---	---	---	PASS
CPB1	1360	broad.mit.edu	37	3	148552407	148552407	+	Nonsense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148552407C>G	uc003ewl.2	+	3	293	c.270C>G	c.(268-270)TAC>TAG	p.Y90*		NM_001871	NP_001862	P15086	CBPB1_HUMAN	pancreatic carboxypeptidase B1 preproprotein	90					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACTACAATACAAGTAAGTTT	0.323													19	124	---	---	---	---	PASS
P2RY14	9934	broad.mit.edu	37	3	150931184	150931184	+	Nonsense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150931184A>T	uc003eyr.1	-	3	1399	c.921T>A	c.(919-921)TGT>TGA	p.C307*	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Nonsense_Mutation_p.C307*	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	P2Y14 receptor	307	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			large_intestine(2)|ovary(1)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAATTTCTTACATAAGATTT	0.358													124	140	---	---	---	---	PASS
AADACL2	344752	broad.mit.edu	37	3	151463429	151463429	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151463429C>G	uc003ezc.2	+	4	684	c.564C>G	c.(562-564)GAC>GAG	p.D188E	AADACL2_uc010hvn.2_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	188						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTGCGGGAGACAGTTCTGGGG	0.333													22	168	---	---	---	---	PASS
PLCH1	23007	broad.mit.edu	37	3	155199359	155199359	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155199359T>C	uc011bok.1	-	23	4757	c.4480A>G	c.(4480-4482)AGT>GGT	p.S1494G	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.S1456G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1494					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCCCAGACTTTTGGATTTG	0.443													15	96	---	---	---	---	PASS
MFSD1	64747	broad.mit.edu	37	3	158519984	158519984	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158519984G>C	uc003fcl.1	+	1	73	c.43G>C	c.(43-45)GGC>CGC	p.G15R	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_5'UTR|MFSD1_uc011bow.1_Missense_Mutation_p.G15R|MFSD1_uc011box.1_5'UTR	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	15					transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCTGGCAGGCGGCCCTGACGA	0.692													12	3	---	---	---	---	PASS
SCHIP1	29970	broad.mit.edu	37	3	158980335	158980335	+	Splice_Site	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158980335A>T	uc003fcq.1	+	4	261	c.156_splice	c.e4-2	p.I52_splice	SCHIP1_uc003fcr.1_Splice_Site|IQCJ_uc003fco.2_Splice_Site_p.I52_splice|IQCJ_uc010hvy.1_Splice_Site_p.N25_splice|IQCJ_uc003fcp.1_Splice_Site_p.I52_splice	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	schwannomin interacting protein 1							cytoplasm	identical protein binding|protein binding			ovary(1)|central_nervous_system(1)	2			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTGTTTTTTCAGCATTCAGCG	0.512													50	59	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	3	161147365	161147365	+	IGR	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:161147365C>G								C3orf57 (57494 upstream) : OTOL1 (67231 downstream)																							CAGGAGCTTCCTTCTTCGCTT	0.413													98	55	---	---	---	---	PASS
SI	6476	broad.mit.edu	37	3	164777795	164777795	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164777795C>A	uc003fei.2	-	10	1103	c.1041G>T	c.(1039-1041)ATG>ATT	p.M347I		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	347	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATATGCTGGCATTGCTGGTA	0.363										HNSCC(35;0.089)			111	85	---	---	---	---	PASS
GOLIM4	27333	broad.mit.edu	37	3	167750452	167750452	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167750452C>A	uc003ffe.2	-	9	1376	c.1032G>T	c.(1030-1032)GAG>GAT	p.E344D	GOLIM4_uc011bpe.1_Missense_Mutation_p.E344D|GOLIM4_uc011bpf.1_Missense_Mutation_p.E316D|GOLIM4_uc011bpg.1_Missense_Mutation_p.E316D	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	344	Glu-rich.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						TTTCTTCCTCCTCCAGGGCCT	0.552													76	57	---	---	---	---	PASS
TNIK	23043	broad.mit.edu	37	3	170802911	170802911	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170802911G>A	uc003fhh.2	-	25	3339	c.2994C>T	c.(2992-2994)GCC>GCT	p.A998A	TNIK_uc003fhi.2_Silent_p.A943A|TNIK_uc003fhj.2_Silent_p.A969A|TNIK_uc003fhk.2_Silent_p.A990A|TNIK_uc003fhl.2_Silent_p.A914A|TNIK_uc003fhm.2_Silent_p.A935A|TNIK_uc003fhn.2_Silent_p.A961A|TNIK_uc003fho.2_Silent_p.A906A|TNIK_uc003fhg.2_Silent_p.A176A|TNIK_uc003fhp.2_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	998	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCTTACCTGCGGCTGATGATT	0.483													5	25	---	---	---	---	PASS
SPATA16	83893	broad.mit.edu	37	3	172835288	172835288	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172835288C>A	uc003fin.3	-	2	392	c.234G>T	c.(232-234)GAG>GAT	p.E78D		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	78					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGGCTGCTTTCTCTAAATCAT	0.368													219	125	---	---	---	---	PASS
MASP1	5648	broad.mit.edu	37	3	186954175	186954175	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186954175G>T	uc003frh.1	-						MASP1_uc003fri.2_Missense_Mutation_p.A495E|MASP1_uc003frj.2_Missense_Mutation_p.A464E	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform						complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACATGAGCTGCTGTGAGGAT	0.582													74	48	---	---	---	---	PASS
IL1RAP	3556	broad.mit.edu	37	3	190366198	190366198	+	Missense_Mutation	SNP	G	C	C	rs34661910	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190366198G>C	uc003fsm.1	+	12	1623	c.1417G>C	c.(1417-1419)GTG>CTG	p.V473L	IL1RAP_uc010hzg.1_Missense_Mutation_p.V473L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.V473L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	473	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CCCCAACTACGTGCTCCAGGG	0.493													176	85	---	---	---	---	PASS
ZNF721	170960	broad.mit.edu	37	4	437772	437772	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:437772C>A	uc003gag.2	-	3	1175	c.484G>T	c.(484-486)GAG>TAG	p.E162*	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Nonsense_Mutation_p.E194*|ZNF721_uc010ibe.2_Nonsense_Mutation_p.E150*	NM_133474	NP_597731	D9N162	D9N162_HUMAN	zinc finger protein 721	162						intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TAAGGTTTCTCTCCAGTATGA	0.403													39	90	---	---	---	---	PASS
FGFRL1	53834	broad.mit.edu	37	4	1018425	1018425	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1018425C>T	uc003gce.2	+	6	1206	c.1045C>T	c.(1045-1047)CGC>TGC	p.R349C	FGFRL1_uc003gcf.2_Missense_Mutation_p.R349C|FGFRL1_uc003gcg.2_Missense_Mutation_p.R349C|FGFRL1_uc010ibo.2_Missense_Mutation_p.R349C	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	349	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTACAGCTTCCGCAGCGCCTT	0.692													7	42	---	---	---	---	PASS
D4S234E	27065	broad.mit.edu	37	4	4419021	4419021	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4419021C>A	uc011bvz.1	+	8	1698	c.417C>A	c.(415-417)GCC>GCA	p.A139A	D4S234E_uc011bwa.1_Silent_p.A100A|D4S234E_uc003ghz.2_Silent_p.A139A|D4S234E_uc003gia.2_Silent_p.A139A|D4S234E_uc003gib.2_Silent_p.A139A	NM_014392	NP_055207	P42857	NSG1_HUMAN	brain neuron cytoplasmic protein 1	139	Lumenal (Potential).				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		ACTCCAGTGCCCGGGAGAAAT	0.547													11	120	---	---	---	---	PASS
EVC2	132884	broad.mit.edu	37	4	5564592	5564592	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5564592C>T	uc003gij.2	-	22	3964	c.3910G>A	c.(3910-3912)GCC>ACC	p.A1304T	EVC2_uc011bwb.1_Missense_Mutation_p.A744T|EVC2_uc003gik.2_Missense_Mutation_p.A1224T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1304						integral to membrane				large_intestine(3)|ovary(2)	5						ATGCCCAAGGCCCTCATGGCC	0.483													40	85	---	---	---	---	PASS
EVC	2121	broad.mit.edu	37	4	5800437	5800437	+	Missense_Mutation	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:5800437A>C	uc003gil.1	+	15	2406	c.2222A>C	c.(2221-2223)GAG>GCG	p.E741A	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	741					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CAGCACATGGAGTGCGCCATT	0.642													4	11	---	---	---	---	PASS
SH3TC1	54436	broad.mit.edu	37	4	8229084	8229084	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8229084C>T	uc003gkv.3	+	12	1764	c.1663C>T	c.(1663-1665)CTC>TTC	p.L555F	SH3TC1_uc003gkw.3_Missense_Mutation_p.L479F|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	555							binding			large_intestine(2)|pancreas(1)	3						GAAAGCTGGCCTCCTCATGGC	0.697													7	22	---	---	---	---	PASS
DEFB131	644414	broad.mit.edu	37	4	9452106	9452106	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:9452106G>A	uc011bwt.1	+	2	79	c.79G>A	c.(79-81)GAT>AAT	p.D27N		NM_001040448	NP_001035538	P59861	DB131_HUMAN	defensin, beta 131 precursor	27					defense response to bacterium	extracellular region					0						CATTTCTAATGATGAATGTCC	0.308													4	50	---	---	---	---	PASS
PROM1	8842	broad.mit.edu	37	4	15995679	15995679	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15995679A>G	uc003goo.2	-	15	1910	c.1698T>C	c.(1696-1698)AAT>AAC	p.N566N	PROM1_uc003gor.2_Silent_p.N566N|PROM1_uc003gos.2_Silent_p.N557N|PROM1_uc003got.2_Silent_p.N566N|PROM1_uc003gou.2_Silent_p.N557N|PROM1_uc003gop.2_Silent_p.N557N|PROM1_uc003goq.3_Silent_p.N557N	NM_006017	NP_006008	O43490	PROM1_HUMAN	prominin 1 isoform 1	566	Extracellular (Potential).				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	7						AAGTGCCTCTATTTTTTTTGC	0.423													37	73	---	---	---	---	PASS
CLRN2	645104	broad.mit.edu	37	4	17528607	17528607	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17528607G>T	uc003gpg.1	+	3	703	c.601G>T	c.(601-603)GCA>TCA	p.A201S		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	clarin 2	201	Helical; (Potential).					integral to membrane					0						GGCCCATGCTGCAAACTTGGT	0.493													25	51	---	---	---	---	PASS
SLIT2	9353	broad.mit.edu	37	4	20618799	20618799	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20618799A>T	uc003gpr.1	+	35	4318	c.4114A>T	c.(4114-4116)AAT>TAT	p.N1372Y	SLIT2_uc003gps.1_Missense_Mutation_p.N1364Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1372					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CCAACGGACCAATGACCCTTG	0.552													22	61	---	---	---	---	PASS
SLIT2	9353	broad.mit.edu	37	4	20620619	20620619	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20620619G>C	uc003gpr.1	+	37	4781	c.4577G>C	c.(4576-4578)AGG>ACG	p.R1526T	SLIT2_uc003gps.1_Missense_Mutation_p.R1518T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1526	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						GGCTGTACGAGGTGTGTGTCC	0.498													27	63	---	---	---	---	PASS
PPARGC1A	10891	broad.mit.edu	37	4	23814395	23814395	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:23814395C>A	uc003gqs.2	-	10	2114	c.1994G>T	c.(1993-1995)AGG>ATG	p.R665M	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	665					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				CTGCCTCTCCCTTTGCTTGGC	0.463													31	126	---	---	---	---	PASS
PDS5A	23244	broad.mit.edu	37	4	39868592	39868592	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39868592C>A	uc003guv.3	-	23	3071	c.2531G>T	c.(2530-2532)AGG>ATG	p.R844M	PDS5A_uc010ifo.2_Missense_Mutation_p.R804M	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	844					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						CAACAGCCACCTTACCAGAAG	0.343													7	24	---	---	---	---	PASS
N4BP2	55728	broad.mit.edu	37	4	40121773	40121773	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40121773C>A	uc003guy.3	+	9	2380	c.2042C>A	c.(2041-2043)CCA>CAA	p.P681Q	N4BP2_uc010ifq.2_Missense_Mutation_p.P601Q|N4BP2_uc010ifr.2_Missense_Mutation_p.P601Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Nedd4 binding protein 2	681						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			lung(3)|breast(2)|kidney(2)|ovary(1)	8						CTGGAAACTCCACACATGTAT	0.338													40	96	---	---	---	---	PASS
RHOH	399	broad.mit.edu	37	4	40245257	40245257	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:40245257C>A	uc003guz.2	+	3	975	c.251C>A	c.(250-252)TCT>TAT	p.S84Y		NM_004310	NP_004301	Q15669	RHOH_HUMAN	ras homolog gene family, member H precursor	84	Interaction with ZAP70 (By similarity).				negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			ovary(1)|lung(1)	2						ATGTGCTACTCTGTGGCCAAC	0.567													11	38	---	---	---	---	PASS
YIPF7	285525	broad.mit.edu	37	4	44626800	44626800	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44626800C>A	uc010ifx.1	-	5	516	c.499_splice	c.e5-1	p.A167_splice		NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7							endoplasmic reticulum membrane|integral to membrane					0						CTTTTCCTGCCTGAAACGACG	0.453													6	15	---	---	---	---	PASS
PDGFRA	5156	broad.mit.edu	37	4	54248489	54248489	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54248489G>T	uc003haa.2	+	4	401	c.215G>T	c.(214-216)GGT>GTT	p.G72V	FIP1L1_uc003gzx.3_Missense_Mutation_p.G57V|FIP1L1_uc011bzt.1_Missense_Mutation_p.G72V|FIP1L1_uc003gzy.2_Missense_Mutation_p.G72V|FIP1L1_uc011bzu.1_Missense_Mutation_p.G57V|FIP1L1_uc003gzz.2_Missense_Mutation_p.G57V|FIP1L1_uc003hab.2_Missense_Mutation_p.G60V|FIP1L1_uc003hac.2_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	1053	Ser-rich.|Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTGAAAATGGTGTACCAAAA	0.358			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			30	56	---	---	---	---	PASS
KDR	3791	broad.mit.edu	37	4	55974023	55974023	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55974023A>T	uc003has.2	-	10	1595	c.1293T>A	c.(1291-1293)CCT>CCA	p.P431P	KDR_uc003hat.1_Silent_p.P431P|KDR_uc011bzx.1_Silent_p.P431P	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	431	Ig-like C2-type 5.|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)	AGGAATCCACAGGAGAGATTA	0.473			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			7	125	---	---	---	---	PASS
LPHN3	23284	broad.mit.edu	37	4	62845285	62845285	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:62845285G>T	uc010ihh.2	+	15	2779	c.2606G>T	c.(2605-2607)AGT>ATT	p.S869I	LPHN3_uc003hcq.3_Missense_Mutation_p.S869I|LPHN3_uc003hct.2_Missense_Mutation_p.S262I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	856	Extracellular (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						TTCCAGCACAGTGATGCGGTC	0.408													16	245	---	---	---	---	PASS
EPHA5	2044	broad.mit.edu	37	4	66213856	66213856	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66213856G>T	uc003hcy.2	-	15	2767	c.2574C>A	c.(2572-2574)GCC>GCA	p.A858A	EPHA5_uc003hcx.2_Silent_p.A790A|EPHA5_uc003hcz.2_Silent_p.A836A|EPHA5_uc011cah.1_Silent_p.A859A|EPHA5_uc011cai.1_Silent_p.A837A|EPHA5_uc003hda.2_Silent_p.A859A	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	858	Cytoplasmic (Potential).|Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						AGACATCACTGGCAGAAGTAA	0.398										TSP Lung(17;0.13)			38	77	---	---	---	---	PASS
EPHA5	2044	broad.mit.edu	37	4	66270123	66270123	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66270123C>A	uc003hcy.2	-	8	1952	c.1759G>T	c.(1759-1761)GCA>TCA	p.A587S	EPHA5_uc003hcx.2_Missense_Mutation_p.A519S|EPHA5_uc003hcz.2_Missense_Mutation_p.A587S|EPHA5_uc011cah.1_Missense_Mutation_p.A588S|EPHA5_uc011cai.1_Missense_Mutation_p.A588S|EPHA5_uc003hda.2_Missense_Mutation_p.A588S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	587	Helical; (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						ATAACCACTGCCAACAAAATG	0.483										TSP Lung(17;0.13)			10	42	---	---	---	---	PASS
EPHA5	2044	broad.mit.edu	37	4	66270124	66270124	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66270124C>A	uc003hcy.2	-	8	1951	c.1758G>T	c.(1756-1758)TTG>TTT	p.L586F	EPHA5_uc003hcx.2_Missense_Mutation_p.L518F|EPHA5_uc003hcz.2_Missense_Mutation_p.L586F|EPHA5_uc011cah.1_Missense_Mutation_p.L587F|EPHA5_uc011cai.1_Missense_Mutation_p.L587F|EPHA5_uc003hda.2_Missense_Mutation_p.L587F	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	586	Helical; (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						TAACCACTGCCAACAAAATGA	0.478										TSP Lung(17;0.13)			10	41	---	---	---	---	PASS
TMPRSS11F	389208	broad.mit.edu	37	4	68956230	68956230	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68956230G>T	uc003hdt.1	-							NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						TAAAATTTCTGTTGAGCTTAC	0.229													17	29	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	4	69403350	69403350	+	IGR	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69403350C>T								YTHDC1 (187526 upstream) : UGT2B15 (108966 downstream)																							TAACTAATCCCTTTTCTTCTT	0.408													24	76	---	---	---	---	PASS
UGT2B11	10720	broad.mit.edu	37	4	70079792	70079792	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70079792C>G	uc003heh.2	-	1	658	c.649G>C	c.(649-651)GTG>CTG	p.V217L	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	217					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						AAATAAAGCACATAGATCATA	0.343													13	57	---	---	---	---	PASS
HTN3	3347	broad.mit.edu	37	4	70897719	70897719	+	Intron	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70897719A>T	uc003hew.2	+							NM_000200	NP_000191	P15516	HIS3_HUMAN	histatin 3						biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding			ovary(1)|skin(1)	2						ATGCAAAGGTAAGACATTTTC	0.239													4	73	---	---	---	---	PASS
NPFFR2	10886	broad.mit.edu	37	4	72897664	72897664	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72897664G>A	uc003hgg.2	+	1	144	c.46G>A	c.(46-48)GAA>AAA	p.E16K	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	16	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GTGCCTCCTGGAAAGTGACGT	0.632													16	32	---	---	---	---	PASS
ANKRD17	26057	broad.mit.edu	37	4	74010501	74010501	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74010501C>G	uc003hgp.2	-	11	2035	c.1918G>C	c.(1918-1920)GCT>CCT	p.A640P	ANKRD17_uc003hgo.2_Missense_Mutation_p.A527P|ANKRD17_uc003hgq.2_Missense_Mutation_p.A640P|ANKRD17_uc003hgr.2_Missense_Mutation_p.A640P|ANKRD17_uc011cbd.1_Missense_Mutation_p.A205P	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	640	ANK 13.				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)			ACATGACCAGCTCTTGCAGCT	0.333													7	48	---	---	---	---	PASS
AFP	174	broad.mit.edu	37	4	74310718	74310718	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74310718C>A	uc003hgz.1	+	7	769	c.722C>A	c.(721-723)ACT>AAT	p.T241N	AFP_uc003hha.1_Missense_Mutation_p.T241N|AFP_uc011cbg.1_Missense_Mutation_p.T15N	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	241	Albumin 2.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAACTGTTACTAAACTGAGT	0.323									Alpha-Fetoprotein_Hereditary_Persistence_of				5	49	---	---	---	---	PASS
RASSF6	166824	broad.mit.edu	37	4	74447946	74447946	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74447946C>T	uc003hhd.1	-	7	848	c.725G>A	c.(724-726)AGA>AAA	p.R242K	RASSF6_uc003hhc.1_Missense_Mutation_p.R210K|RASSF6_uc010iik.1_Intron|RASSF6_uc010iil.1_Missense_Mutation_p.R198K	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family 6	242	Ras-associating.				apoptosis|signal transduction		protein binding			pancreas(2)	2	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TTCTTCAGTTCTCATGTTACT	0.269													3	38	---	---	---	---	PASS
PPEF2	5470	broad.mit.edu	37	4	76794303	76794303	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76794303A>T	uc003hix.2	-	12	1840	c.1483T>A	c.(1483-1485)TAT>AAT	p.Y495N	PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.Y495N	NM_006239	NP_006230	O14830	PPE2_HUMAN	serine/threonine protein phosphatase with	495	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGAATTCATAGCCTTCAGGT	0.488													24	47	---	---	---	---	PASS
FRAS1	80144	broad.mit.edu	37	4	79393426	79393426	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79393426G>T	uc003hlb.2	+	52	7904	c.7464G>T	c.(7462-7464)AAG>AAT	p.K2488N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2487	CSPG 12.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CGGGCCCTAAGCATGGCTTTG	0.537													10	35	---	---	---	---	PASS
FGF5	2250	broad.mit.edu	37	4	81207575	81207575	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81207575C>A	uc003hmd.2	+	3	793	c.556C>A	c.(556-558)CGG>AGG	p.R186R	FGF5_uc003hme.2_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	fibroblast growth factor 5 isoform 1 precursor	186					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			ovary(1)|breast(1)	2						AAAAACAGGGCGGGAGTGGTA	0.458													47	118	---	---	---	---	PASS
BMP3	651	broad.mit.edu	37	4	81967120	81967120	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:81967120A>G	uc003hmg.3	+	2	865	c.545A>G	c.(544-546)CAT>CGT	p.H182R		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	182					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						CTCCTTGGCCATCTGTCAGTG	0.438													10	174	---	---	---	---	PASS
ENOPH1	58478	broad.mit.edu	37	4	83375922	83375922	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83375922G>T	uc003hmv.2	+	4	694	c.437G>T	c.(436-438)GGA>GTA	p.G146V	ENOPH1_uc003hmw.2_Missense_Mutation_p.G58V|ENOPH1_uc003hmx.2_5'UTR	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	146					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity				0						AGAGAGGCCGGAATGAAGGTG	0.463													40	97	---	---	---	---	PASS
WDFY3	23001	broad.mit.edu	37	4	85722993	85722993	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85722993C>A	uc003hpd.2	-	17	3040	c.2632G>T	c.(2632-2634)GTG>TTG	p.V878L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	878						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)		ATATTTGCCACGGCAAGTTGA	0.438													3	39	---	---	---	---	PASS
GRID2	2895	broad.mit.edu	37	4	94006212	94006212	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:94006212C>A	uc011cdt.1	+	3	569	c.311C>A	c.(310-312)TCC>TAC	p.S104Y	GRID2_uc010ikx.2_Missense_Mutation_p.S104Y|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	104	Extracellular (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCAGCAGGATCCCTCCAGTCT	0.537													20	67	---	---	---	---	PASS
GRID2	2895	broad.mit.edu	37	4	94693642	94693642	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:94693642C>A	uc011cdt.1	+	16	3275	c.3017C>A	c.(3016-3018)TCC>TAC	p.S1006Y	GRID2_uc011cdu.1_Missense_Mutation_p.S911Y	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	1006	PDZ-binding (By similarity).|Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CGAGGCACCTCCATATGAGCA	0.418													18	51	---	---	---	---	PASS
GRID2	2895	broad.mit.edu	37	4	94693643	94693643	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:94693643C>A	uc011cdt.1	+	16	3276	c.3018C>A	c.(3016-3018)TCC>TCA	p.S1006S	GRID2_uc011cdu.1_Silent_p.S911S	NM_001510	NP_001501	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	1006	PDZ-binding (By similarity).|Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAGGCACCTCCATATGAGCAT	0.413													18	50	---	---	---	---	PASS
ADH1A	124	broad.mit.edu	37	4	100205627	100205627	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100205627G>T	uc003hur.1	-	5	567	c.496C>A	c.(496-498)CCT>ACT	p.P166T	uc003hum.1_Intron|ADH1A_uc011ceg.1_Missense_Mutation_p.P166T|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	class I alcohol dehydrogenase, alpha subunit	166					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	TTCTCTAGAGGCGAGGCTGCA	0.478													6	54	---	---	---	---	PASS
C4orf17	84103	broad.mit.edu	37	4	100443678	100443678	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100443678G>T	uc003huw.2	+	3	472	c.149G>T	c.(148-150)TGT>TTT	p.C50F	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	50											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		ATTCCAATCTGTACTGTGAAT	0.373													26	43	---	---	---	---	PASS
MTTP	4547	broad.mit.edu	37	4	100518257	100518257	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100518257C>T	uc003hvc.3	+	9	1199	c.943C>T	c.(943-945)CTG>TTG	p.L315L	MTTP_uc011cej.1_Silent_p.L342L	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	315	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAGGAAATACCTGCAGCCTGA	0.498													49	106	---	---	---	---	PASS
CENPE	1062	broad.mit.edu	37	4	104064497	104064497	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104064497C>G	uc003hxb.1	-	34	5302	c.5212G>C	c.(5212-5214)GAT>CAT	p.D1738H	CENPE_uc003hxc.1_Missense_Mutation_p.D1713H|CENPE_uc003hxd.1_5'Flank	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1738	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTAGTTTATCAATAGTTTCT	0.303													50	89	---	---	---	---	PASS
AGXT2L1	64850	broad.mit.edu	37	4	109670424	109670424	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:109670424G>C	uc003hzc.2	-	8	1078	c.897C>G	c.(895-897)TTC>TTG	p.F299L	AGXT2L1_uc010imc.2_Missense_Mutation_p.F293L|AGXT2L1_uc011cfm.1_Missense_Mutation_p.F259L|AGXT2L1_uc011cfn.1_Missense_Mutation_p.F226L|AGXT2L1_uc011cfo.1_Missense_Mutation_p.F241L	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	alanine-glyoxylate aminotransferase 2-like 1	299					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CAGAGCTGCTGAAGGCTTCTG	0.418													9	66	---	---	---	---	PASS
COL25A1	84570	broad.mit.edu	37	4	110221759	110221759	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110221759G>T	uc003hze.1	-	3	878	c.347C>A	c.(346-348)TCA>TAA	p.S116*	COL25A1_uc003hzg.2_Nonsense_Mutation_p.S116*|COL25A1_uc003hzh.1_Nonsense_Mutation_p.S116*	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	116	Extracellular (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTTACATTCTGAAGGTGCTTC	0.383													26	55	---	---	---	---	PASS
SEC24B	10427	broad.mit.edu	37	4	110402874	110402874	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110402874G>T	uc003hzk.2	+	4	1157	c.1102G>T	c.(1102-1104)GCA>TCA	p.A368S	SEC24B_uc003hzl.2_Intron|SEC24B_uc011cfp.1_Missense_Mutation_p.A399S|SEC24B_uc011cfq.1_Missense_Mutation_p.A368S|SEC24B_uc011cfr.1_Intron	NM_006323	NP_006314	O95487	SC24B_HUMAN	SEC24 (S. cerevisiae) homolog B isoform a	368					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			ovary(2)|large_intestine(1)	3		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTAGCTCCGCACCAACTCC	0.358													19	143	---	---	---	---	PASS
ENPEP	2028	broad.mit.edu	37	4	111397698	111397698	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:111397698G>T	uc003iab.3	+	1	470	c.128G>T	c.(127-129)TGT>TTT	p.C43F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	43	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACCAGATCGTGTGACTCCAGC	0.612													14	115	---	---	---	---	PASS
METTL14	57721	broad.mit.edu	37	4	119609096	119609096	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119609096G>T	uc003icf.2	+	2	201	c.85G>T	c.(85-87)GAC>TAC	p.D29Y	METTL14_uc003icg.2_5'UTR	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	methyltransferase like 14	29						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity				0						TGAAAGTGCCGACAGCATTGG	0.368													11	44	---	---	---	---	PASS
ANKRD50	57182	broad.mit.edu	37	4	125592529	125592529	+	Missense_Mutation	SNP	C	G	G	rs148381297		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:125592529C>G	uc003ifg.3	-	3	2169	c.1903G>C	c.(1903-1905)GTA>CTA	p.V635L	ANKRD50_uc011cgo.1_Missense_Mutation_p.V456L|ANKRD50_uc010inw.2_Missense_Mutation_p.V635L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	635	ANK 5.									central_nervous_system(1)	1						TCCACTTTTACGCCAGCATAA	0.458													13	104	---	---	---	---	PASS
LARP1B	55132	broad.mit.edu	37	4	129127647	129127647	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129127647A>G	uc003iga.2	+	18	2505	c.2374A>G	c.(2374-2376)ATT>GTT	p.I792V	LARP1B_uc003igc.2_Missense_Mutation_p.I211V|LARP1B_uc010ioa.1_RNA|LARP1B_uc003ige.2_Intron|LARP1B_uc003igd.2_RNA|LARP1B_uc003igf.2_Intron	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family member 2	792							RNA binding				0						CAGGCGAGAAATTTTTCAGGA	0.303													10	73	---	---	---	---	PASS
PCDH10	57575	broad.mit.edu	37	4	134084122	134084122	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134084122C>A	uc003iha.2	+							NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TTTCTGTTTTCTGCTTACAGG	0.443													27	42	---	---	---	---	PASS
INPP4B	8821	broad.mit.edu	37	4	143029265	143029265	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143029265C>A	uc003iix.3	-	24	2950	c.2355G>T	c.(2353-2355)ATG>ATT	p.M785I	INPP4B_uc003iiw.3_Missense_Mutation_p.M785I|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.M600I|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	785					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					GCATCTTTTCCATAAATATCT	0.328													7	48	---	---	---	---	PASS
DCHS2	54798	broad.mit.edu	37	4	155158210	155158210	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155158210G>T	uc003inw.2	-	25	6229	c.6229C>A	c.(6229-6231)CTT>ATT	p.L2077I		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2077	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTAAAGTAAGAGCTCTCAGG	0.393													29	67	---	---	---	---	PASS
FGA	2243	broad.mit.edu	37	4	155507006	155507006	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155507006A>T	uc003iod.1	-	5	1633	c.1575T>A	c.(1573-1575)ACT>ACA	p.T525T	FGA_uc003ioe.1_Silent_p.T525T|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	525	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)	ATGTTTTTCCAGTTGAGGCAG	0.488													3	78	---	---	---	---	PASS
VEGFC	7424	broad.mit.edu	37	4	177650717	177650717	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177650717C>T	uc003ius.1	-	2	761	c.331G>A	c.(331-333)GCA>ACA	p.A111T		NM_005429	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	111					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			lung(5)	5		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TAATGTGCTGCAGCAAATTTT	0.383													22	56	---	---	---	---	PASS
AHRR	57491	broad.mit.edu	37	5	344045	344045	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:344045G>T	uc003jav.2	+	2	84	c.40G>T	c.(40-42)GCG>TCG	p.A14S	AHRR_uc003jaw.2_Missense_Mutation_p.A10S|AHRR_uc010isy.2_5'UTR|AHRR_uc010isz.2_Missense_Mutation_p.A10S	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	14					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)			GTGCACGTACGCGGGCCGGAA	0.662													16	22	---	---	---	---	PASS
SLC6A19	340024	broad.mit.edu	37	5	1201812	1201812	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1201812C>T	uc003jbw.3	+	1	103	c.47C>T	c.(46-48)CCG>CTG	p.P16L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	solute carrier family 6, member 19	16	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity				0	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCGGATCCCGTCCCTGGCT	0.677													7	32	---	---	---	---	PASS
ADCY2	108	broad.mit.edu	37	5	7707951	7707951	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7707951G>T	uc003jdz.1	+	9	1468	c.1401G>T	c.(1399-1401)AAG>AAT	p.K467N	ADCY2_uc011cmo.1_Missense_Mutation_p.K287N	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	467	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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TCAACCCCAAGGTCAGTATCA	0.373													50	93	---	---	---	---	PASS
ADCY2	108	broad.mit.edu	37	5	7766797	7766797	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7766797C>T	uc003jdz.1	+						ADCY2_uc011cmo.1_Intron	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate 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 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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CTTCTCTTTGCAGTTTTTCCT	0.383													32	108	---	---	---	---	PASS
ADCY2	108	broad.mit.edu	37	5	7773087	7773087	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7773087G>T	uc003jdz.1	+	18	2324	c.2257G>T	c.(2257-2259)GTG>TTG	p.V753L	ADCY2_uc011cmo.1_Missense_Mutation_p.V573L	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	753	Helical; (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						ATCCTGTTCCGTGTTCCTGCG	0.493													137	231	---	---	---	---	PASS
MTRR	4552	broad.mit.edu	37	5	7870910	7870910	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7870910G>T	uc003jed.2	+	2	114	c.84G>T	c.(82-84)ATG>ATT	p.M28I	FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.M1I|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	28					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TTGAAGTGATGAGGAGGTTTC	0.403													35	90	---	---	---	---	PASS
SEMA5A	9037	broad.mit.edu	37	5	9052120	9052120	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9052120C>A	uc003jek.2	-	20	3422	c.2710G>T	c.(2710-2712)GAC>TAC	p.D904Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	904	Extracellular (Potential).|TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TCAGACCAGTCCGACCACTCC	0.592													17	40	---	---	---	---	PASS
SEMA5A	9037	broad.mit.edu	37	5	9063065	9063065	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9063065A>G	uc003jek.2	-	18	3164	c.2452T>C	c.(2452-2454)TAT>CAT	p.Y818H		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	818	TSP type-1 5.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						ATTCCCCCATACTTGGGTTCG	0.552													34	91	---	---	---	---	PASS
SEMA5A	9037	broad.mit.edu	37	5	9237981	9237981	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9237981C>A	uc003jek.2	-	6	1004	c.292G>T	c.(292-294)GAA>TAA	p.E98*		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	98	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2						TTGGTAGCTTCATCACACTCC	0.393													34	134	---	---	---	---	PASS
MARCH6	10299	broad.mit.edu	37	5	10405729	10405729	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10405729A>T	uc003jet.1	+	16	1575	c.1392A>T	c.(1390-1392)CCA>CCT	p.P464P	MARCH6_uc011cmu.1_Silent_p.P416P|MARCH6_uc003jeu.1_Silent_p.P162P|MARCH6_uc011cmv.1_Silent_p.P359P	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	464	Cytoplasmic (Potential).				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						ATTTCAATCCAGTACAGGAAA	0.323													58	122	---	---	---	---	PASS
ROPN1L	83853	broad.mit.edu	37	5	10464985	10464985	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10464985G>T	uc003jex.3	+	5	890	c.619G>T	c.(619-621)GGT>TGT	p.G207C		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	207					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						CGGCATGATAGGTCTTTCAGA	0.313													43	137	---	---	---	---	PASS
ROPN1L	83853	broad.mit.edu	37	5	10464986	10464986	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10464986G>T	uc003jex.3	+	5	891	c.620G>T	c.(619-621)GGT>GTT	p.G207V		NM_031916	NP_114122	Q96C74	ROP1L_HUMAN	ropporin 1-like	207					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			ovary(1)	1						GGCATGATAGGTCTTTCAGAT	0.313													40	138	---	---	---	---	PASS
CTNND2	1501	broad.mit.edu	37	5	11565171	11565171	+	Intron	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11565171G>A	uc003jfa.1	-						CTNND2_uc010itt.2_Intron|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						TGTAATTCCTGAAAGAAACCC	0.468													13	68	---	---	---	---	PASS
DNAH5	1767	broad.mit.edu	37	5	13770872	13770872	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13770872C>A	uc003jfd.2	-	56	9633	c.9591G>T	c.(9589-9591)CGG>CGT	p.R3197R	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3197	Stalk (By similarity).|Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3197W(1)|p.R3197Q(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGGCCAGGGTCCGCACCTCCA	0.338									Kartagener_syndrome				38	51	---	---	---	---	PASS
MARCH11	441061	broad.mit.edu	37	5	16067764	16067764	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16067764C>G	uc003jfo.2	-	4	1238	c.1025G>C	c.(1024-1026)AGG>ACG	p.R342T	MARCH11_uc010itw.1_Missense_Mutation_p.R98T	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	342						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding				0						CCACAAAGTCCTACTTGTGGA	0.478													23	117	---	---	---	---	PASS
ZNF622	90441	broad.mit.edu	37	5	16465451	16465451	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16465451C>A	uc003jfq.2	-	1	444	c.324G>T	c.(322-324)ATG>ATT	p.M108I		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	108						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						TTTCATTCATCATCTCCACTT	0.557													94	176	---	---	---	---	PASS
CDH18	1016	broad.mit.edu	37	5	19571932	19571932	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19571932A>T	uc003jgc.2	-	7	1386	c.1009T>A	c.(1009-1011)TAT>AAT	p.Y337N	CDH18_uc003jgd.2_Missense_Mutation_p.Y337N|CDH18_uc011cnm.1_Missense_Mutation_p.Y337N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	337	Extracellular (Potential).|Cadherin 3.				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)					TTTTTCTCATAGTTCAGTGGC	0.303													28	102	---	---	---	---	PASS
CDH18	1016	broad.mit.edu	37	5	19721511	19721511	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19721511C>A	uc003jgc.2	-	4	965	c.588G>T	c.(586-588)CGG>CGT	p.R196R	CDH18_uc003jgd.2_Silent_p.R196R|CDH18_uc011cnm.1_Silent_p.R196R	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	196	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)					TGTAAACCACCCGAGCGCTGT	0.463													53	162	---	---	---	---	PASS
CDH18	1016	broad.mit.edu	37	5	19721517	19721517	+	Missense_Mutation	SNP	G	T	T	rs147239335	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19721517G>T	uc003jgc.2	-	4	959	c.582C>A	c.(580-582)AGC>AGA	p.S194R	CDH18_uc003jgd.2_Missense_Mutation_p.S194R|CDH18_uc011cnm.1_Missense_Mutation_p.S194R	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	194	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)					CCACCCGAGCGCTGTTTCCAT	0.463													32	183	---	---	---	---	PASS
CDH12	1010	broad.mit.edu	37	5	22078722	22078722	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:22078722G>C	uc010iuc.2	-	2	522	c.64C>G	c.(64-66)CCA>GCA	p.P22A	CDH12_uc011cno.1_Missense_Mutation_p.P22A|CDH12_uc003jgk.2_Missense_Mutation_p.P22A	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	22					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GGTTGTAGTGGTGTTAGGAGA	0.458										HNSCC(59;0.17)			66	206	---	---	---	---	PASS
PRDM9	56979	broad.mit.edu	37	5	23509607	23509607	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23509607T>A	uc003jgo.2	+	3	280	c.98T>A	c.(97-99)ATA>AAA	p.I33K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	33	KRAB-related.				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						GACATTTCCATATACTTCACC	0.413										HNSCC(3;0.000094)			106	253	---	---	---	---	PASS
PRDM9	56979	broad.mit.edu	37	5	23522877	23522877	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23522877G>T	uc003jgo.2	+	8	947	c.765G>T	c.(763-765)CAG>CAT	p.Q255H		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	255	SET.				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						GCATCCCTCAGGCTGGGCTTG	0.567										HNSCC(3;0.000094)			16	96	---	---	---	---	PASS
PRDM9	56979	broad.mit.edu	37	5	23526523	23526523	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23526523A>T	uc003jgo.2	+	11	1508	c.1326A>T	c.(1324-1326)CCA>CCT	p.P442P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	442					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						AGCAATATCCAGATCCACACA	0.478										HNSCC(3;0.000094)			28	71	---	---	---	---	PASS
PDZD2	23037	broad.mit.edu	37	5	32010568	32010568	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32010568A>T	uc003jhl.2	+	6	1775	c.1387A>T	c.(1387-1389)AGC>TGC	p.S463C	PDZD2_uc003jhm.2_Missense_Mutation_p.S463C|PDZD2_uc011cnx.1_Missense_Mutation_p.S289C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	463					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CGAAGGAACCAGCTCTTCTGT	0.512													33	77	---	---	---	---	PASS
PDZD2	23037	broad.mit.edu	37	5	32010569	32010569	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32010569G>A	uc003jhl.2	+	6	1776	c.1388G>A	c.(1387-1389)AGC>AAC	p.S463N	PDZD2_uc003jhm.2_Missense_Mutation_p.S463N|PDZD2_uc011cnx.1_Missense_Mutation_p.S289N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	463					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GAAGGAACCAGCTCTTCTGTC	0.517													32	77	---	---	---	---	PASS
PDZD2	23037	broad.mit.edu	37	5	32088501	32088501	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32088501C>T	uc003jhl.2	+	20	5335	c.4947C>T	c.(4945-4947)GCC>GCT	p.A1649A	PDZD2_uc003jhm.2_Silent_p.A1649A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1649					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GTGAGAAGGCCGCCTGCTTGC	0.547													7	199	---	---	---	---	PASS
NPR3	4883	broad.mit.edu	37	5	32774923	32774923	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32774923A>G	uc003jhv.2	+	4	1387	c.1169A>G	c.(1168-1170)CAG>CGG	p.Q390R	NPR3_uc010iuo.2_Missense_Mutation_p.Q174R|NPR3_uc011cnz.1_Missense_Mutation_p.Q174R|NPR3_uc003jhu.2_Missense_Mutation_p.Q390R	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	390	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	AAAATTATACAGCAGACTTGG	0.438													72	154	---	---	---	---	PASS
ADAMTS12	81792	broad.mit.edu	37	5	33624406	33624406	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33624406G>A	uc003jia.1	-	14	2236	c.2073C>T	c.(2071-2073)TGC>TGT	p.C691C	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	691	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GGCACACACCGCAGCGATCCT	0.507										HNSCC(64;0.19)			34	85	---	---	---	---	PASS
ADAMTS12	81792	broad.mit.edu	37	5	33649685	33649685	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33649685G>A	uc003jia.1	-	8	1471	c.1308C>T	c.(1306-1308)AGC>AGT	p.S436S	ADAMTS12_uc010iuq.1_Silent_p.S436S	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	436	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TGTACTCCTCGCTGCACTTGG	0.517										HNSCC(64;0.19)			58	101	---	---	---	---	PASS
ADAMTS12	81792	broad.mit.edu	37	5	33649808	33649808	+	Intron	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33649808A>C	uc003jia.1	-						ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						CGAAGCTGGCAGGGAAGAACC	0.507										HNSCC(64;0.19)			45	90	---	---	---	---	PASS
ADAMTS12	81792	broad.mit.edu	37	5	33881520	33881520	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33881520G>T	uc003jia.1	-	2	356	c.193C>A	c.(193-195)CAT>AAT	p.H65N	ADAMTS12_uc010iuq.1_Missense_Mutation_p.H65N|ADAMTS12_uc003jib.1_Missense_Mutation_p.H65N	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	65					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						GACAAAAAATGCCCACTGGCA	0.488										HNSCC(64;0.19)			86	172	---	---	---	---	PASS
SPEF2	79925	broad.mit.edu	37	5	35692818	35692818	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35692818G>A	uc003jjo.2	+	12	2002	c.1891G>A	c.(1891-1893)GAA>AAA	p.E631K	SPEF2_uc003jjq.3_Missense_Mutation_p.E631K|SPEF2_uc003jjp.1_Missense_Mutation_p.E122K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	631					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAGATTAAAGAAAGCCAGGC	0.388													26	146	---	---	---	---	PASS
IL7R	3575	broad.mit.edu	37	5	35871231	35871231	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35871231T>A	uc003jjs.2	+	4	542	c.453T>A	c.(451-453)AAT>AAA	p.N151K	IL7R_uc011coo.1_Missense_Mutation_p.N151K|IL7R_uc011cop.1_RNA	NM_002185	NP_002176	P16871	IL7RA_HUMAN	interleukin 7 receptor precursor	151	Extracellular (Potential).|Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			ovary(3)|breast(1)|skin(1)	5	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGACATTTAATACATCACACT	0.383													45	92	---	---	---	---	PASS
GDNF	2668	broad.mit.edu	37	5	37815898	37815898	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37815898G>A	uc011cpi.1	-	3	691	c.491C>T	c.(490-492)TCC>TTC	p.S164F	GDNF_uc011cpc.1_Missense_Mutation_p.S86F|GDNF_uc011cpd.1_Missense_Mutation_p.S112F|GDNF_uc011cpe.1_Missense_Mutation_p.S138F|GDNF_uc011cpf.1_Missense_Mutation_p.S138F|GDNF_uc011cpg.1_Missense_Mutation_p.S181F|GDNF_uc011cph.1_Missense_Mutation_p.S155F	NM_000514	NP_000505	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor isoform 1	164					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity				0	all_lung(31;0.00118)					TCTATTTCTGGATAAGTTTTT	0.453													82	170	---	---	---	---	PASS
C9	735	broad.mit.edu	37	5	39331928	39331928	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39331928C>A	uc003jlv.3	-							NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor						complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGAGAATGAACAGAGTAGTAT	0.453													69	184	---	---	---	---	PASS
HEATR7B2	133558	broad.mit.edu	37	5	41019108	41019108	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41019108A>T	uc003jmj.3	-	25	2944	c.2454T>A	c.(2452-2454)CCT>CCA	p.P818P	HEATR7B2_uc003jmi.3_Silent_p.P373P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	818	HEAT 9.						binding			ovary(6)|central_nervous_system(2)	8						GTGAGAGCTGAGGTTTCAGTT	0.458													6	66	---	---	---	---	PASS
C6	729	broad.mit.edu	37	5	41160347	41160347	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41160347A>G	uc003jmk.2	-	11	1791	c.1581T>C	c.(1579-1581)CCT>CCC	p.P527P	C6_uc003jml.1_Silent_p.P527P	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	527	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGCCATTATTAGGGCATGGAG	0.483													90	185	---	---	---	---	PASS
C6	729	broad.mit.edu	37	5	41160349	41160349	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41160349G>T	uc003jmk.2	-	11	1789	c.1579C>A	c.(1579-1581)CCT>ACT	p.P527T	C6_uc003jml.1_Missense_Mutation_p.P527T	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	527	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCATTATTAGGGCATGGAGCA	0.493													87	184	---	---	---	---	PASS
C6	729	broad.mit.edu	37	5	41186221	41186221	+	Missense_Mutation	SNP	G	T	T	rs61734261	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41186221G>T	uc003jmk.2	-	6	887	c.677C>A	c.(676-678)ACA>AAA	p.T226K	C6_uc003jml.1_Missense_Mutation_p.T226K	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	226	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGGATTACTTGTCCTACTGCT	0.448													59	84	---	---	---	---	PASS
SEPP1	6414	broad.mit.edu	37	5	42808330	42808330	+	RNA	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:42808330C>A	uc011cps.1	-	3		c.314G>T			SEPP1_uc011cpt.1_RNA|SEPP1_uc011cpu.1_RNA|SEPP1_uc011cpv.1_RNA|SEPP1_uc003jna.2_RNA			P49908	SEPP1_HUMAN	Homo sapiens cDNA FLJ37321 fis, clone BRAMY2018122.						response to oxidative stress	extracellular region	selenium binding				0						TGGAGTTTAGCATTGGATCTT	0.498													16	125	---	---	---	---	PASS
NNT	23530	broad.mit.edu	37	5	43675646	43675646	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43675646G>T	uc003joe.2	+	18	2923	c.2668G>T	c.(2668-2670)GGA>TGA	p.G890*	NNT_uc003jof.2_Nonsense_Mutation_p.G890*	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	890	Mitochondrial matrix.				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTGATTCTTGGAGGCTATGG	0.413													35	132	---	---	---	---	PASS
HCN1	348980	broad.mit.edu	37	5	45262788	45262788	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45262788G>T	uc003jok.2	-	8	1933	c.1908C>A	c.(1906-1908)ATC>ATA	p.I636I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	636	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TGATGGGAGCGATTGCCTGCA	0.478													59	166	---	---	---	---	PASS
ITGA1	3672	broad.mit.edu	37	5	52235523	52235523	+	Splice_Site	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52235523T>C	uc003jou.2	+	25	3232	c.3180_splice	c.e25+2	p.L1060_splice	ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.L591_splice	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACAATTCTGGTAAATTAAGAC	0.328													39	36	---	---	---	---	PASS
GPX8	493869	broad.mit.edu	37	5	54456978	54456978	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54456978G>C	uc003jpq.2	+	2	398	c.361G>C	c.(361-363)GAA>CAA	p.E121Q	CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_Intron|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Missense_Mutation_p.E70Q	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8	121					response to oxidative stress	integral to membrane	glutathione peroxidase activity				0					Glutathione(DB00143)	CCCAAGCAAGGAAGTAGAATC	0.453													48	47	---	---	---	---	PASS
ACTBL2	345651	broad.mit.edu	37	5	56778020	56778020	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56778020A>T	uc003jrm.2	-	1	617	c.515T>A	c.(514-516)CTG>CAG	p.L172Q		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	172						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGCATGAGGCAGGGCATAACC	0.547													48	55	---	---	---	---	PASS
HTR1A	3350	broad.mit.edu	37	5	63256358	63256358	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:63256358G>T	uc011cqt.1	-	1	1189	c.1189C>A	c.(1189-1191)CCC>ACC	p.P397T		NM_000524	NP_000515	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A	397	Helical; Name=7; (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)	TAAATGACGGGGTTAAGCAGA	0.522													141	175	---	---	---	---	PASS
NAIP	4671	broad.mit.edu	37	5	70308644	70308644	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70308644C>A	uc003kar.1	-	4	817	c.99G>T	c.(97-99)CAG>CAT	p.Q33H	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Q33H|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein isoform	33					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCTTTGCCAACTGAACTGCAT	0.478													85	184	---	---	---	---	PASS
ZNF366	167465	broad.mit.edu	37	5	71752345	71752345	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71752345G>T	uc003kce.1	-	3	1596	c.1410C>A	c.(1408-1410)ATC>ATA	p.I470I		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	zinc finger protein 366	470	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGTTGGTGTGGATCAGCACGT	0.557													104	106	---	---	---	---	PASS
RGNEF	64283	broad.mit.edu	37	5	73136487	73136487	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:73136487G>T	uc011csq.1	+	10	1340	c.1329G>T	c.(1327-1329)CAG>CAT	p.Q443H	RGNEF_uc003kcx.2_Missense_Mutation_p.Q443H|RGNEF_uc003kcy.1_Missense_Mutation_p.Q443H|RGNEF_uc010izf.2_Missense_Mutation_p.Q443H|RGNEF_uc011csr.1_Missense_Mutation_p.Q130H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Rho-guanine nucleotide exchange factor	443					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding				0		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AAGCCCAGCAGTCCTTCATGT	0.458													17	15	---	---	---	---	PASS
COL4A3BP	10087	broad.mit.edu	37	5	74706902	74706902	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74706902C>A	uc011csu.1	-	8	1286	c.864G>T	c.(862-864)GAG>GAT	p.E288D	COL4A3BP_uc003kds.2_Missense_Mutation_p.E288D|COL4A3BP_uc003kdt.2_Missense_Mutation_p.E416D|COL4A3BP_uc003kdu.2_Missense_Mutation_p.E288D	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	alpha 3 type IV collagen binding protein isoform	288	Potential.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			skin(1)	1		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TATATGCTTCCTCTGTTCTTC	0.303													35	39	---	---	---	---	PASS
PDE8B	8622	broad.mit.edu	37	5	76707522	76707522	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76707522G>A	uc003kfa.2	+	15	1597	c.1552G>A	c.(1552-1554)GGA>AGA	p.G518R	PDE8B_uc003kfb.2_Missense_Mutation_p.G498R|PDE8B_uc003kfc.2_Missense_Mutation_p.G463R|PDE8B_uc003kfd.2_Missense_Mutation_p.G471R|PDE8B_uc003kfe.2_Missense_Mutation_p.G421R	NM_003719	NP_003710	O95263	PDE8B_HUMAN	phosphodiesterase 8B isoform 1	518					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity				0		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AAGACTGTCAGGAAACGAGTA	0.373													53	38	---	---	---	---	PASS
BHMT2	23743	broad.mit.edu	37	5	78379182	78379182	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78379182C>A	uc003kft.2	+	6	789	c.766C>A	c.(766-768)CCA>ACA	p.P256T	BHMT2_uc011cth.1_Missense_Mutation_p.P192T	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	256	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TGTGGATCTCCCAGAATATCC	0.502													50	47	---	---	---	---	PASS
RASGRF2	5924	broad.mit.edu	37	5	80388701	80388701	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80388701G>T	uc003kha.1	+	10	1472	c.1472G>T	c.(1471-1473)GGA>GTA	p.G491V	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	491	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAAAGGAAGGAGAGAGACAA	0.388													78	71	---	---	---	---	PASS
ATP6AP1L	92270	broad.mit.edu	37	5	81608492	81608492	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:81608492A>G	uc003khv.2	+	9	1519	c.194A>G	c.(193-195)GAG>GGG	p.E65G	ATP6AP1L_uc003khw.2_Missense_Mutation_p.E65G	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory	65					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism				0						CGCCGAGTCGAGATCATTTCC	0.448											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	120	119	---	---	---	---	PASS
GPR98	84059	broad.mit.edu	37	5	90025522	90025522	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90025522A>T	uc003kju.2	+	50	10586	c.10490A>T	c.(10489-10491)CAG>CTG	p.Q3497L	GPR98_uc003kjt.2_Missense_Mutation_p.Q1203L|GPR98_uc003kjv.2_Missense_Mutation_p.Q1097L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3497	EAR 6.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGTATTTTCAGTCTGTAGAT	0.378													17	24	---	---	---	---	PASS
ANKRD32	84250	broad.mit.edu	37	5	94022349	94022349	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94022349G>C	uc003kkr.3	+	16	2127	c.2047G>C	c.(2047-2049)GAG>CAG	p.E683Q	ANKRD32_uc003kks.2_Missense_Mutation_p.E47Q	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	683										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTTGTTGCAGAGGCAGTCTT	0.393													109	102	---	---	---	---	PASS
CAST	831	broad.mit.edu	37	5	96064905	96064905	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96064905C>T	uc003klz.1	+	5	340	c.178C>T	c.(178-180)CAC>TAC	p.H60Y	CAST_uc003klt.2_Missense_Mutation_p.H60Y|CAST_uc003klu.2_Missense_Mutation_p.H143Y|CAST_uc003klv.2_Missense_Mutation_p.H121Y|CAST_uc003klw.2_Intron|CAST_uc003klx.2_Intron|CAST_uc003kly.2_Missense_Mutation_p.H121Y|CAST_uc011cuo.1_Missense_Mutation_p.H106Y|CAST_uc011cup.1_Missense_Mutation_p.H38Y|CAST_uc011cuq.1_Intron|CAST_uc011cur.1_Missense_Mutation_p.H46Y|CAST_uc011cus.1_Missense_Mutation_p.H60Y|CAST_uc003kma.1_Intron|CAST_uc011cut.1_Missense_Mutation_p.H38Y|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Missense_Mutation_p.H60Y|CAST_uc003kmd.2_Missense_Mutation_p.H38Y|CAST_uc003kme.2_Intron|CAST_uc003kmf.2_Missense_Mutation_p.H38Y	NM_001042443	NP_001035908	P20810	ICAL_HUMAN	calpastatin isoform i	60							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(3)|ovary(1)|kidney(1)	5		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCCAAAAGAACACACAGAGGT	0.323													26	38	---	---	---	---	PASS
SLCO6A1	133482	broad.mit.edu	37	5	101748803	101748803	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101748803C>G	uc003knn.2	-	9	1689	c.1517G>C	c.(1516-1518)TGT>TCT	p.C506S	SLCO6A1_uc003kno.2_Missense_Mutation_p.C253S|SLCO6A1_uc003knp.2_Missense_Mutation_p.C506S|SLCO6A1_uc003knq.2_Missense_Mutation_p.C444S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	506	Extracellular (Potential).|Kazal-like.					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGAGCATCTACATTTTTCATT	0.333													42	45	---	---	---	---	PASS
SLCO6A1	133482	broad.mit.edu	37	5	101755672	101755672	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:101755672C>A	uc003knn.2	-	8	1502	c.1330G>T	c.(1330-1332)GTT>TTT	p.V444F	SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.V444F|SLCO6A1_uc003knq.2_Missense_Mutation_p.V382F	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family,	444	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|skin(3)|central_nervous_system(1)	7		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AATGTGGAAACAATGACACCT	0.353													31	48	---	---	---	---	PASS
GIN1	54826	broad.mit.edu	37	5	102423699	102423699	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102423699G>A	uc003koa.1	-	8	1554	c.1472C>T	c.(1471-1473)ACG>ATG	p.T491M	GIN1_uc003kob.1_Missense_Mutation_p.T344M|GIN1_uc003koc.1_3'UTR	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	491					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		AGAGATTTTCGTATTTCTATA	0.343													37	105	---	---	---	---	PASS
STARD4	134429	broad.mit.edu	37	5	110835665	110835665	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:110835665C>T	uc003kph.1	-	6	621	c.537G>A	c.(535-537)GGG>GGA	p.G179G	STARD4_uc010jbw.1_Silent_p.G81G|STARD4_uc010jbx.1_Silent_p.G81G|STARD4_uc003kpi.1_RNA	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	StAR-related lipid transfer (START) domain	179	START.				lipid transport		lipid binding			ovary(1)	1		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		GAGGAATCATCCCACGCAGAT	0.413													39	80	---	---	---	---	PASS
CEP120	153241	broad.mit.edu	37	5	122726941	122726941	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122726941G>A	uc003ktk.2	-	8	983	c.901C>T	c.(901-903)CAC>TAC	p.H301Y	CEP120_uc011cwq.1_Missense_Mutation_p.H110Y|CEP120_uc010jcz.1_Missense_Mutation_p.H275Y	NM_153223	NP_694955	Q8N960	CE120_HUMAN	coiled-coil domain containing 100	301				H -> R (in Ref. 4; CAH10371).		centrosome				ovary(1)	1						GTGACTGGGTGCTGGTTGATT	0.463													115	88	---	---	---	---	PASS
FBN2	2201	broad.mit.edu	37	5	127671679	127671679	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127671679C>A	uc003kuu.2	-	28	4163	c.3724_splice	c.e28+1	p.D1242_splice	FBN2_uc003kuv.2_Splice_Site_p.D1209_splice	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor						bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTCCCCTTACCTGTACAGCC	0.458													20	21	---	---	---	---	PASS
SLC27A6	28965	broad.mit.edu	37	5	128302173	128302173	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128302173G>T	uc003kuy.2	+	2	739	c.343G>T	c.(343-345)GAG>TAG	p.E115*	SLC27A6_uc003kuz.2_Nonsense_Mutation_p.E115*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	115					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GATGAGCAATGAGCCGGACTT	0.547													19	26	---	---	---	---	PASS
PITX1	5307	broad.mit.edu	37	5	134364975	134364975	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134364975G>T	uc010jea.2	-	3	832	c.439C>A	c.(439-441)CGC>AGC	p.R147S	PITX1_uc011cxy.1_Missense_Mutation_p.R147S	NM_002653	NP_002644	P78337	PITX1_HUMAN	paired-like homeodomain transcription factor 1	147	Homeobox.|Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		TTACGCTCGCGCTTACGCCAC	0.687													45	56	---	---	---	---	PASS
BRD8	10902	broad.mit.edu	37	5	137506162	137506162	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137506162C>A	uc003lcf.1	-						BRD8_uc003lcc.1_Intron|BRD8_uc003lcg.2_Intron|BRD8_uc003lci.2_Intron|BRD8_uc003lch.2_Intron|BRD8_uc011cym.1_Intron|BRD8_uc010jer.1_Intron|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2						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)			TTCACAGAACCCTTACAAAGT	0.428													65	56	---	---	---	---	PASS
CDC23	8697	broad.mit.edu	37	5	137542257	137542257	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137542257C>A	uc003lcl.2	-	3	382	c.351G>T	c.(349-351)CTG>CTT	p.L117L	CDC23_uc003lcm.1_Silent_p.L117L	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	117					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATACATATACAGAAAATAGG	0.393													58	44	---	---	---	---	PASS
PCDHA1	56147	broad.mit.edu	37	5	140166549	140166549	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140166549C>T	uc003lhb.2	+	1	674	c.674C>T	c.(673-675)ACA>ATA	p.T225I	PCDHA1_uc003lha.2_Missense_Mutation_p.T225I|PCDHA1_uc003lgz.2_Missense_Mutation_p.T225I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	225	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)			CTGCAAGGTACAGTTGAGCTG	0.463													50	39	---	---	---	---	PASS
PCDHA1	56147	broad.mit.edu	37	5	140166551	140166551	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140166551G>A	uc003lhb.2	+	1	676	c.676G>A	c.(676-678)GTT>ATT	p.V226I	PCDHA1_uc003lha.2_Missense_Mutation_p.V226I|PCDHA1_uc003lgz.2_Missense_Mutation_p.V226I	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	226	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)			GCAAGGTACAGTTGAGCTGCT	0.463													50	40	---	---	---	---	PASS
PCDHA1	56147	broad.mit.edu	37	5	140167336	140167336	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140167336C>A	uc003lhb.2	+	1	1461	c.1461C>A	c.(1459-1461)AAC>AAA	p.N487K	PCDHA1_uc003lha.2_Missense_Mutation_p.N487K|PCDHA1_uc003lgz.2_Missense_Mutation_p.N487K	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	487	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGAGAACGCGCTGGTGT	0.657													48	51	---	---	---	---	PASS
PCDHA2	56146	broad.mit.edu	37	5	140175926	140175926	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140175926G>T	uc003lhd.2	+	1	1483	c.1377G>T	c.(1375-1377)GAG>GAT	p.E459D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E459D|PCDHA2_uc011czy.1_Missense_Mutation_p.E459D	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	459	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGCCTGAGTACACAGTAT	0.652													54	49	---	---	---	---	PASS
PCDHA4	56144	broad.mit.edu	37	5	140188024	140188024	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140188024G>T	uc003lhi.2	+	1	1353	c.1252G>T	c.(1252-1254)GTG>TTG	p.V418L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.V418L|PCDHA4_uc011daa.1_Missense_Mutation_p.V418L	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	418	Cadherin 4.|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)			CCGCGAGAGCGTGTCAGCCTA	0.612													84	96	---	---	---	---	PASS
PCDHA5	56143	broad.mit.edu	37	5	140202727	140202727	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140202727A>G	uc003lhl.2	+	1	1367	c.1367A>G	c.(1366-1368)CAG>CGG	p.Q456R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.Q456R|PCDHA5_uc003lhj.1_Missense_Mutation_p.Q456R	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	456	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTTCGCGCAGCCCCAGTAT	0.677													55	59	---	---	---	---	PASS
PCDHA12	56137	broad.mit.edu	37	5	140256677	140256677	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140256677C>G	uc003lic.2	+	1	1747	c.1620C>G	c.(1618-1620)GCC>GCG	p.A540A	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A540A	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	540	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGACGCCGGCGTGCCGC	0.697													56	64	---	---	---	---	PASS
PCDHAC2	56134	broad.mit.edu	37	5	140358567	140358567	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140358567G>T	uc003lii.2	+	2	2839	c.2599G>T	c.(2599-2601)GCC>TCC	p.A867S	PCDHA1_uc003lha.2_Missense_Mutation_p.A546S|PCDHA1_uc003lhb.2_Missense_Mutation_p.A810S|PCDHA2_uc003lhd.2_Missense_Mutation_p.A808S|PCDHA3_uc003lhf.2_Missense_Mutation_p.A810S|PCDHA4_uc003lhi.2_Missense_Mutation_p.A807S|PCDHA4_uc003lhh.1_Missense_Mutation_p.A807S|PCDHA5_uc003lhk.1_Missense_Mutation_p.A796S|PCDHA5_uc003lhl.2_Missense_Mutation_p.A796S|PCDHA6_uc003lhn.2_Missense_Mutation_p.A546S|PCDHA6_uc003lho.2_Missense_Mutation_p.A810S|PCDHA7_uc003lhq.2_Missense_Mutation_p.A797S|PCDHA8_uc003lhs.2_Missense_Mutation_p.A810S|PCDHA9_uc003lhu.2_Missense_Mutation_p.A810S|PCDHA10_uc003lhw.2_Missense_Mutation_p.A545S|PCDHA10_uc003lhx.2_Missense_Mutation_p.A808S|PCDHA11_uc003lia.2_Missense_Mutation_p.A809S|PCDHA12_uc003lic.2_Missense_Mutation_p.A801S|PCDHA13_uc003lie.1_Missense_Mutation_p.A810S|PCDHA13_uc003lif.2_Missense_Mutation_p.A810S|PCDHAC1_uc003lih.2_Missense_Mutation_p.A823S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	867	4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (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)			GCGTTACTCTGCCTCCCTGAG	0.463													35	33	---	---	---	---	PASS
PCDHB13	56123	broad.mit.edu	37	5	140594417	140594417	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140594417C>T	uc003lja.1	+	1	909	c.722C>T	c.(721-723)CCT>CTT	p.P241L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	241	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATAATGCCCCTGAATTTGAG	0.532													84	102	---	---	---	---	PASS
PCDHGA2	56113	broad.mit.edu	37	5	140720414	140720414	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720414G>T	uc003ljk.1	+	1	2061	c.1876G>T	c.(1876-1878)GTG>TTG	p.V626L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.V626L	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	626	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGGCGAGGTGCGCACGGC	0.687													45	34	---	---	---	---	PASS
PCDHGB1	56104	broad.mit.edu	37	5	140731432	140731432	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140731432C>G	uc003ljo.1	+	1	1605	c.1605C>G	c.(1603-1605)TCC>TCG	p.S535S	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Silent_p.S535S	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	535	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGGGCTCCCCCGCGCTCA	0.711													44	50	---	---	---	---	PASS
PCDHGA8	9708	broad.mit.edu	37	5	140774289	140774289	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140774289G>C	uc003lkd.1	+	1	2807	c.1909G>C	c.(1909-1911)GCG>CCG	p.A637P	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_uc003lkb.3_Missense_Mutation_p.A637P	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	637	Extracellular (Potential).|Cadherin 6.				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)			GGACAGAGATGCGCTCAAGCA	0.687													21	23	---	---	---	---	PASS
PCDHGB6	56100	broad.mit.edu	37	5	140787817	140787817	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140787817G>A	uc003lkj.1	+	1	48	c.48G>A	c.(46-48)GTG>GTA	p.V16V	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_Silent_p.V16V	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	16					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)			cgcggcAGGTGCTATTTCCTT	0.547											OREG0016861	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6	---	---	---	---	PASS
PCDHGB7	56099	broad.mit.edu	37	5	140799700	140799700	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140799700G>T	uc003lkn.1	+	1	2419	c.2274G>T	c.(2272-2274)GGG>GGT	p.G758G	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_uc003lkm.2_Silent_p.G758G|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	758	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGCCTGGGGATCAAATGA	0.448													25	40	---	---	---	---	PASS
KCTD16	57528	broad.mit.edu	37	5	143853639	143853639	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:143853639C>T	uc003lnm.1	+	4	1878	c.1249C>T	c.(1249-1251)CCT>TCT	p.P417S	KCTD16_uc003lnn.1_Missense_Mutation_p.P417S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	417						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAGAAAACATCCTTGGCAATC	0.383													58	63	---	---	---	---	PASS
PDGFRB	5159	broad.mit.edu	37	5	149502665	149502665	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149502665C>A	uc003lro.2	-	15	2592	c.2123G>T	c.(2122-2124)CGC>CTC	p.R708L	PDGFRB_uc010jhd.2_Missense_Mutation_p.R547L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	708	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCGGGCGGCGCTTGTCGGA	0.617			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								60	60	---	---	---	---	PASS
ARSI	340075	broad.mit.edu	37	5	149677244	149677244	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149677244C>G	uc003lrv.2	-	2	1832	c.1243G>C	c.(1243-1245)GTG>CTG	p.V415L		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I precursor	415						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCCTGCACGGCGGTGTTC	0.637													26	40	---	---	---	---	PASS
FAM71B	153745	broad.mit.edu	37	5	156589937	156589937	+	Missense_Mutation	SNP	G	C	C	rs115938677	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156589937G>C	uc003lwn.2	-	2	1439	c.1339C>G	c.(1339-1341)CGC>GGC	p.R447G		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	447	Bipartite nuclear localization signal (Potential).					nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCCTTGCGGTGATGAGAA	0.498													128	104	---	---	---	---	PASS
RNF145	153830	broad.mit.edu	37	5	158621832	158621832	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158621832C>G	uc003lxp.2	-	3	498	c.185G>C	c.(184-186)GGT>GCT	p.G62A	RNF145_uc011ddy.1_Missense_Mutation_p.G76A|RNF145_uc003lxo.1_Missense_Mutation_p.G90A|RNF145_uc011ddz.1_Missense_Mutation_p.G79A|RNF145_uc010jiq.1_Missense_Mutation_p.G92A|RNF145_uc011dea.1_Missense_Mutation_p.G78A	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	62	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGATATAACCTGTACCAGA	0.333													59	42	---	---	---	---	PASS
ODZ2	57451	broad.mit.edu	37	5	167589772	167589772	+	Intron	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167589772C>G	uc010jjd.2	+						ODZ2_uc003lzr.3_Intron|ODZ2_uc003lzt.3_Intron|ODZ2_uc010jje.2_Intron|uc003lzs.1_Intron	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GGTGAGCACGCGTCTTCTCAT	0.512													35	34	---	---	---	---	PASS
HRH2	3274	broad.mit.edu	37	5	175111071	175111071	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175111071G>C	uc003mdd.2	+	1	2608	c.835G>C	c.(835-837)GCC>CCC	p.A279P	HRH2_uc003mdc.3_Missense_Mutation_p.A279P	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	279	Helical; Name=7; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GCTGGGCTATGCCAACTCAGC	0.572													45	28	---	---	---	---	PASS
PROP1	5626	broad.mit.edu	37	5	177419911	177419911	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:177419911T>A	uc003mif.1	-	3	789	c.480A>T	c.(478-480)CCA>CCT	p.P160P		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	160					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTGGTGGTGGTGCTGCGT	0.597													21	25	---	---	---	---	PASS
ADAMTS2	9509	broad.mit.edu	37	5	178554976	178554976	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178554976G>C	uc003mjw.2	-	17	2601	c.2601C>G	c.(2599-2601)TCC>TCG	p.S867S		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	867	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACAGGGCTTGGAGCACGGAG	0.607													68	72	---	---	---	---	PASS
FOXF2	2295	broad.mit.edu	37	6	1391171	1391171	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:1391171A>T	uc003mtm.2	+	1	1103	c.989A>T	c.(988-990)CAC>CTC	p.H330L	FOXF2_uc003mtn.2_Missense_Mutation_p.H330L	NM_001452	NP_001443	Q12947	FOXF2_HUMAN	forkhead box F2	330					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		ATCGAATGCCACTCGCCCTAC	0.612													7	4	---	---	---	---	PASS
NUP153	9972	broad.mit.edu	37	6	17688803	17688803	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17688803C>A	uc003ncd.1	-	2	358	c.158G>T	c.(157-159)GGG>GTG	p.G53V	NUP153_uc011dje.1_Missense_Mutation_p.G53V|NUP153_uc010jpl.1_Missense_Mutation_p.G53V	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	53					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTGTAGCCACCCTGGCACAAT	0.378													164	84	---	---	---	---	PASS
SLC17A4	10050	broad.mit.edu	37	6	25769301	25769301	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25769301C>G	uc003nfe.2	+	3	299	c.180C>G	c.(178-180)GCC>GCG	p.A60A	SLC17A4_uc011djx.1_Silent_p.A60A|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	60					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1						TGAGCATTGCCATCCCAGCTA	0.493													90	57	---	---	---	---	PASS
HIST1H3A	8350	broad.mit.edu	37	6	26020907	26020907	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26020907C>A	uc003nfp.1	+	1	190	c.190C>A	c.(190-192)CGT>AGT	p.R64S	HIST1H1A_uc003nfo.2_5'Flank|HIST1H4A_uc003nfq.2_5'Flank	NM_003529	NP_003520	P68431	H31_HUMAN	histone cluster 1, H3a	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)|pancreas(1)	2						ACTGCTTATTCGTAAACTACC	0.607													50	24	---	---	---	---	PASS
HIST1H3E	8353	broad.mit.edu	37	6	26225524	26225524	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26225524G>T	uc003nhb.2	+	2	502	c.142G>T	c.(142-144)GCT>TCT	p.A48S	HIST1H3E_uc003nhc.3_Missense_Mutation_p.A48S	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	48					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				TGGCACCGTGGCTCTGCGCGA	0.617													63	22	---	---	---	---	PASS
BTN2A2	10385	broad.mit.edu	37	6	26393015	26393015	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26393015C>A	uc003nhq.2	+	8	1478	c.1392C>A	c.(1390-1392)GAC>GAA	p.D464E	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.D348E|BTN2A2_uc011dkh.1_Missense_Mutation_p.D254E|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.D464E|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	464	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						ACATGAGGGACAGATCGCACA	0.547													5	146	---	---	---	---	PASS
BTN1A1	696	broad.mit.edu	37	6	26501971	26501971	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26501971G>A	uc003nif.3	+	2	253	c.233G>A	c.(232-234)AGG>AAG	p.R78K		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	78	Extracellular (Potential).|Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						CTGGTGCATAGGGACGGGCGC	0.692													29	14	---	---	---	---	PASS
ZNF165	7718	broad.mit.edu	37	6	28056811	28056811	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28056811G>A	uc003nkg.2	+	5	2105	c.1021G>A	c.(1021-1023)GAT>AAT	p.D341N	ZNF165_uc003nkh.2_Missense_Mutation_p.D341N|ZNF165_uc003nki.3_Missense_Mutation_p.D341N|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	341					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTTCAGTGGAGATAAAACTCA	0.378													47	21	---	---	---	---	PASS
OR2B3	442184	broad.mit.edu	37	6	29054515	29054515	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29054515G>T	uc003nlx.2	-	1	576	c.511C>A	c.(511-513)CAC>AAC	p.H171N		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1						ACTTCCTGGTGACCACAGCGT	0.488													61	30	---	---	---	---	PASS
GABBR1	2550	broad.mit.edu	37	6	29574167	29574167	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29574167C>A	uc003nmt.3	-	19	2647	c.2311_splice	c.e19+1	p.G771_splice	GABBR1_uc003nmp.3_Splice_Site_p.G654_splice|GABBR1_uc003nms.3_Splice_Site_p.G654_splice|GABBR1_uc003nmu.3_Splice_Site_p.G709_splice|GABBR1_uc011dlr.1_Splice_Site_p.G594_splice	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1						gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	ATCCCACACACCAAGCCATGT	0.547													141	89	---	---	---	---	PASS
MOG	4340	broad.mit.edu	37	6	29627378	29627378	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29627378G>C	uc003nnf.2	+	2	549	c.371G>C	c.(370-372)GGT>GCT	p.G124A	MOG_uc003qzk.1_Missense_Mutation_p.G124A|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.G124A|MOG_uc003nmz.2_Missense_Mutation_p.G124A|MOG_uc011dlt.1_Missense_Mutation_p.G54A|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.G124A|MOG_uc003nne.2_Missense_Mutation_p.G124A|MOG_uc003nng.2_Missense_Mutation_p.G124A|MOG_uc003nnh.2_Missense_Mutation_p.G124A|MOG_uc003nni.2_Missense_Mutation_p.G124A|MOG_uc003nnj.2_Missense_Mutation_p.G124A|MOG_uc003nnk.2_Missense_Mutation_p.G124A	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	124	Ig-like V-type.|Extracellular (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						GATGAAGGAGGTTTCACCTGC	0.458													77	21	---	---	---	---	PASS
MOG	4340	broad.mit.edu	37	6	29633931	29633931	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29633931C>A	uc003nnf.2	+	3	617	c.439C>A	c.(439-441)CCT>ACT	p.P147T	MOG_uc003nmy.1_Missense_Mutation_p.P147T|MOG_uc003nmz.2_3'UTR|MOG_uc011dlt.1_Missense_Mutation_p.P77T|MOG_uc003nna.2_Missense_Mutation_p.P31T|MOG_uc011dlu.1_Missense_Mutation_p.P31T|MOG_uc011dlv.1_Missense_Mutation_p.P31T|MOG_uc003nnd.2_3'UTR|MOG_uc003nne.2_Missense_Mutation_p.P147T|MOG_uc003nng.2_Missense_Mutation_p.P147T|MOG_uc003nnh.2_Missense_Mutation_p.P147T|MOG_uc003nni.2_Missense_Mutation_p.P147T|MOG_uc003nnj.2_Missense_Mutation_p.P147T|MOG_uc003nnk.2_Missense_Mutation_p.P147T	NM_206809	NP_996532	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein isoform	147	Extracellular (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						cctttcagatcctttctactg	0.299													176	83	---	---	---	---	PASS
DDR1	780	broad.mit.edu	37	6	30859793	30859793	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30859793G>T	uc003nrr.2	+	8	939	c.680G>T	c.(679-681)GGT>GTT	p.G227V	DDR1_uc010jse.2_Missense_Mutation_p.G227V|DDR1_uc003nrq.2_Missense_Mutation_p.G227V|DDR1_uc003nrs.2_Missense_Mutation_p.G227V|DDR1_uc003nrt.2_Missense_Mutation_p.G227V|DDR1_uc011dms.1_Missense_Mutation_p.G245V|DDR1_uc003nru.2_Missense_Mutation_p.G227V|DDR1_uc011dmu.1_Missense_Mutation_p.V194F|DDR1_uc003nrv.2_Missense_Mutation_p.G227V|DDR1_uc003nrw.1_Missense_Mutation_p.G26V|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	227	Extracellular (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CAGTATGGGGGTCTGGGCCAG	0.597													172	71	---	---	---	---	PASS
VARS	7407	broad.mit.edu	37	6	31748909	31748909	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31748909C>A	uc003nxe.2	-						VARS_uc003nxf.1_5'Flank	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase						translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)	ACCTGCAGAGCAGGTGGGGAG	0.602													46	14	---	---	---	---	PASS
BRD2	6046	broad.mit.edu	37	6	32944196	32944196	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32944196G>T	uc003ocn.3	+	6	2481	c.780G>T	c.(778-780)CCG>CCT	p.P260P	BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.P260P|BRD2_uc003ocp.3_Silent_p.P140P|BRD2_uc010juh.2_Silent_p.P260P	NM_005104	NP_005095	P25440	BRD2_HUMAN	bromodomain containing 2	260					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTGGACCCCCGCTCCTTGCTG	0.542													92	49	---	---	---	---	PASS
TCP11	6954	broad.mit.edu	37	6	35108619	35108619	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35108619G>A	uc003okd.2	-	2	249	c.68C>T	c.(67-69)CCG>CTG	p.P23L	TCP11_uc003ojz.1_5'UTR|TCP11_uc003oka.2_5'UTR|TCP11_uc003okb.2_5'UTR|TCP11_uc003okc.2_5'UTR|TCP11_uc011dsu.1_Missense_Mutation_p.P10L|TCP11_uc011dsv.1_Intron|TCP11_uc011dsw.1_Intron	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	10					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						AGGATATTTCGGGGGCACACT	0.612													31	4	---	---	---	---	PASS
SLC26A8	116369	broad.mit.edu	37	6	35923176	35923176	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35923176G>T	uc003olm.2	-	17	2096	c.1985C>A	c.(1984-1986)CCA>CAA	p.P662Q	SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.P244Q|SLC26A8_uc003oln.2_Missense_Mutation_p.P662Q|SLC26A8_uc003oll.2_Missense_Mutation_p.P557Q	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	662	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						TACTGTGTATGGCACTTGGTC	0.448													109	54	---	---	---	---	PASS
C6orf89	221477	broad.mit.edu	37	6	36884283	36884283	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36884283C>T	uc003omx.2	+	7	1042	c.758C>T	c.(757-759)CCA>CTA	p.P253L	C6orf89_uc003omv.2_Missense_Mutation_p.P147L|C6orf89_uc003omw.2_Missense_Mutation_p.P260L|C6orf89_uc011dtr.1_Missense_Mutation_p.P147L|C6orf89_uc003omy.2_Missense_Mutation_p.P87L	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	hypothetical protein LOC221477	253						integral to membrane				ovary(1)	1						ACTCACCTGCCATTTCCAAAA	0.398													108	57	---	---	---	---	PASS
CRISP1	167	broad.mit.edu	37	6	49814308	49814308	+	Nonsense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49814308G>C	uc003ozw.2	-	5	439	c.360C>G	c.(358-360)TAC>TAG	p.Y120*	CRISP1_uc003ozx.2_Nonsense_Mutation_p.Y120*	NM_001131	NP_001122	P54107	CRIS1_HUMAN	acidic epididymal glycoprotein-like 1 isoform 1	120					fusion of sperm to egg plasma membrane	extracellular space					0	Lung NSC(77;0.0358)					TAGACTCACTGTACCAGACTC	0.418													72	69	---	---	---	---	PASS
PKHD1	5314	broad.mit.edu	37	6	51771113	51771113	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51771113C>A	uc003pah.1	-	41	6984	c.6708G>T	c.(6706-6708)GTG>GTT	p.V2236V	PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.2_Silent_p.V2236V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	2236	Extracellular (Potential).|PbH1 1.				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)					AGGAGTTCCTCACTGTGCAGC	0.438													48	49	---	---	---	---	PASS
FAM83B	222584	broad.mit.edu	37	6	54806171	54806171	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54806171G>T	uc003pck.2	+	5	2518	c.2402G>T	c.(2401-2403)TGT>TTT	p.C801F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	801										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)					TATAGATTGTGTAGTAGCTCT	0.358													29	38	---	---	---	---	PASS
BAI3	577	broad.mit.edu	37	6	70071070	70071070	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70071070G>T	uc003pev.3	+	29	4353	c.3905G>T	c.(3904-3906)AGA>ATA	p.R1302I	BAI3_uc010kak.2_Missense_Mutation_p.R1302I|BAI3_uc011dxx.1_Missense_Mutation_p.R508I	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1302	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CCTCAAGAAAGAATGATGGAA	0.373													37	32	---	---	---	---	PASS
BAI3	577	broad.mit.edu	37	6	70082331	70082331	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70082331G>T	uc003pev.3	+	30	4721	c.4273G>T	c.(4273-4275)GAG>TAG	p.E1425*	BAI3_uc010kak.2_Nonsense_Mutation_p.E1425*|BAI3_uc011dxx.1_Nonsense_Mutation_p.E631*	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1425	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				CCTTGACTTTGAGGTAAGTTT	0.249													14	18	---	---	---	---	PASS
IMPG1	3617	broad.mit.edu	37	6	76712652	76712652	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76712652G>T	uc003pik.1	-	12	1404	c.1274C>A	c.(1273-1275)GCA>GAA	p.A425E		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	425					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)				ACCATGCTCTGCTCCGTCCAC	0.443													21	20	---	---	---	---	PASS
BCKDHB	594	broad.mit.edu	37	6	80881107	80881107	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:80881107G>T	uc003pjd.2	+	6	809	c.742G>T	c.(742-744)GCG>TCG	p.A248S	BCKDHB_uc003pje.2_Missense_Mutation_p.A248S	NM_000056	NP_000047	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1 beta	248					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding				0		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAGGGCAGCAGGTAAAGATTT	0.284													13	18	---	---	---	---	PASS
SNAP91	9892	broad.mit.edu	37	6	84290221	84290221	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84290221G>T	uc011dze.1	-	23	2564	c.2247C>A	c.(2245-2247)GCC>GCA	p.A749A	SNAP91_uc011dzd.1_Silent_p.A247A|SNAP91_uc003pkb.2_Silent_p.A658A|SNAP91_uc003pkc.2_Silent_p.A719A|SNAP91_uc003pkd.2_Silent_p.A442A|SNAP91_uc003pka.2_Silent_p.A747A	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog	749					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGCTTTGCTGGCTGCCATTG	0.458													56	53	---	---	---	---	PASS
SNAP91	9892	broad.mit.edu	37	6	84366466	84366466	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84366466C>T	uc011dze.1	-						SNAP91_uc003pkb.2_Intron|SNAP91_uc003pkc.2_Intron|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Intron|SNAP91_uc011dzf.1_Intron	NM_014841	NP_055656	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa homolog						clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			ovary(1)	1		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCGGTTGTTCCACCTACCGAG	0.368													21	10	---	---	---	---	PASS
GABRR2	2570	broad.mit.edu	37	6	89967387	89967387	+	3'UTR	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89967387C>T	uc003pnb.2	-	9					GABRR2_uc011dzx.1_3'UTR	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2						synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCCTTGGAGCCCCTAGGAAAA	0.473													7	12	---	---	---	---	PASS
PRDM1	639	broad.mit.edu	37	6	106553194	106553194	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106553194G>T	uc003prd.2	+	5	1393	c.1159G>T	c.(1159-1161)GGC>TGC	p.G387C	PRDM1_uc003pre.2_Missense_Mutation_p.G253C	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	387					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GGAAGGTTTGGGCTCCTACCC	0.637			D|N|Mis|F|S		DLBCL								43	42	---	---	---	---	PASS
AIM1	202	broad.mit.edu	37	6	106960405	106960405	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106960405G>T	uc003prh.2	+	1	676	c.189G>T	c.(187-189)CGG>CGT	p.R63R		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	63							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AATCTCCGCGGGCAGCCCTCG	0.677													7	9	---	---	---	---	PASS
KIAA1919	91749	broad.mit.edu	37	6	111587213	111587213	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111587213G>T	uc003puv.3	+	4	870	c.448G>T	c.(448-450)GCT>TCT	p.A150S		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	150	Extracellular (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GACAGCGTCTGCTGAAAACCA	0.478													26	36	---	---	---	---	PASS
FYN	2534	broad.mit.edu	37	6	112041170	112041170	+	Missense_Mutation	SNP	G	C	C	rs113851622	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112041170G>C	uc003pvj.2	-	3	425	c.85C>G	c.(85-87)CGC>GGC	p.R29G	FYN_uc003pvi.2_Missense_Mutation_p.R29G|FYN_uc003pvk.2_Missense_Mutation_p.R29G|FYN_uc003pvh.2_Missense_Mutation_p.R29G	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	29					axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GTGCCATAGCGGTACCCAGAG	0.562													35	37	---	---	---	---	PASS
WISP3	8838	broad.mit.edu	37	6	112382385	112382385	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112382385G>T	uc003pvm.2	+	3	350	c.240G>T	c.(238-240)AAG>AAT	p.K80N	WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.K98N	NM_003880	NP_003871	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	80	IGFBP N-terminal.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding				0		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCTGTGCCAAGCAACCAGGGG	0.537													61	50	---	---	---	---	PASS
LAMA4	3910	broad.mit.edu	37	6	112462013	112462013	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112462013C>T	uc003pvu.2	-	22	3234	c.2925G>A	c.(2923-2925)CTG>CTA	p.L975L	LAMA4_uc003pvv.2_Silent_p.L968L|LAMA4_uc003pvt.2_Silent_p.L968L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	975	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTCAGGGTCCAGGTCCAGCA	0.428													45	54	---	---	---	---	PASS
LAMA4	3910	broad.mit.edu	37	6	112486416	112486416	+	Silent	SNP	C	G	G	rs143587921	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112486416C>G	uc003pvu.2	-	13	1923	c.1614G>C	c.(1612-1614)GCG>GCC	p.A538A	LAMA4_uc003pvv.2_Silent_p.A531A|LAMA4_uc003pvt.2_Silent_p.A531A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	538	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCAGAGAGTCCGCAGATGTGC	0.438													62	61	---	---	---	---	PASS
DCBLD1	285761	broad.mit.edu	37	6	117858346	117858346	+	Splice_Site	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117858346A>T	uc003pxs.2	+	7	845	c.720_splice	c.e7-2	p.D240_splice	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Splice_Site_p.D240_splice|DCBLD1_uc003pxt.1_5'Flank	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1						cell adhesion	integral to membrane				ovary(1)	1		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTATTGTTTCAGTGGTTCCCT	0.249													111	87	---	---	---	---	PASS
LAMA2	3908	broad.mit.edu	37	6	129674447	129674447	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129674447A>G	uc003qbn.2	+	32	4767	c.4662A>G	c.(4660-4662)GGA>GGG	p.G1554G	LAMA2_uc003qbo.2_Silent_p.G1554G	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	1554	Laminin EGF-like 17.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGCCACGGGAAGGAAGTGTG	0.557													61	55	---	---	---	---	PASS
SAMD3	154075	broad.mit.edu	37	6	130505284	130505284	+	Missense_Mutation	SNP	C	A	A	rs41285308	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130505284C>A	uc003qbv.2	-	8	944	c.618G>T	c.(616-618)CAG>CAT	p.Q206H	SAMD3_uc003qbx.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbw.2_Missense_Mutation_p.Q206H|SAMD3_uc010kfg.1_Missense_Mutation_p.Q206H|SAMD3_uc003qby.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbz.1_Missense_Mutation_p.Q165H	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	206										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AAGGGTGGGCCTGCAGCAGGG	0.473													36	36	---	---	---	---	PASS
ENPP3	5169	broad.mit.edu	37	6	132014756	132014756	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132014756G>T	uc003qcu.3	+	16	1751	c.1404G>T	c.(1402-1404)CTG>CTT	p.L468L	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.L468L	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	468	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AACAGTGGCTGGCTGTTAGGT	0.393													71	70	---	---	---	---	PASS
BCLAF1	9774	broad.mit.edu	37	6	136599464	136599464	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599464C>G	uc003qgx.1	-	4	808	c.555G>C	c.(553-555)GAG>GAC	p.E185D	BCLAF1_uc003qgw.1_Missense_Mutation_p.E185D|BCLAF1_uc003qgy.1_Missense_Mutation_p.E183D|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.E183D	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	185					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTTTCGGTTCCTCCTGTGATT	0.423													67	325	---	---	---	---	PASS
BCLAF1	9774	broad.mit.edu	37	6	136600970	136600970	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136600970C>T	uc003qgx.1	-	3	288	c.35G>A	c.(34-36)AGG>AAG	p.R12K	BCLAF1_uc003qgw.1_Missense_Mutation_p.R12K|BCLAF1_uc003qgy.1_Missense_Mutation_p.R12K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R12K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	12					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGACTTTGACCTTGAAGAATG	0.303													8	119	---	---	---	---	PASS
GPR126	57211	broad.mit.edu	37	6	142723805	142723805	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:142723805G>T	uc010khc.2	+	13	2204	c.1793G>T	c.(1792-1794)GGG>GTG	p.G598V	GPR126_uc010khd.2_Missense_Mutation_p.G570V|GPR126_uc010khe.2_Missense_Mutation_p.G598V|GPR126_uc010khf.2_Missense_Mutation_p.G570V	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126 alpha 1	598	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)		ACTGCTGATGGGCAGAACTTA	0.333													11	24	---	---	---	---	PASS
HIVEP2	3097	broad.mit.edu	37	6	143082622	143082622	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143082622C>A	uc003qjd.2	-	8	6342	c.5599G>T	c.(5599-5601)GAT>TAT	p.D1867Y		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	1867					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTTTCTGTATCATCCACCGAT	0.393													138	114	---	---	---	---	PASS
RAB32	10981	broad.mit.edu	37	6	146875734	146875734	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146875734G>A	uc003qln.1	+	3	851	c.671G>A	c.(670-672)TGT>TAT	p.C224Y		NM_006834	NP_006825	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	224					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding				0		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		AAATCCCAGTGTTGCTGATAT	0.428													30	81	---	---	---	---	PASS
C6orf97	80129	broad.mit.edu	37	6	151939118	151939118	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151939118G>T	uc003qol.2	+	11	2073	c.1984G>T	c.(1984-1986)GGC>TGC	p.G662C		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	662											0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		GCAGATGCTAGGCTTGAACGT	0.448													45	76	---	---	---	---	PASS
ZDHHC14	79683	broad.mit.edu	37	6	158093997	158093997	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158093997A>T	uc003qqt.2	+	9	1807	c.1310A>T	c.(1309-1311)CAG>CTG	p.Q437L	ZDHHC14_uc003qqs.2_Missense_Mutation_p.Q422L|ZDHHC14_uc010kjn.2_Missense_Mutation_p.Q92L	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	437						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		ATGGGCCACCAGTTCCTGACG	0.731													8	4	---	---	---	---	PASS
IGF2R	3482	broad.mit.edu	37	6	160494403	160494403	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160494403G>T	uc003qta.2	+	34	4997	c.4849G>T	c.(4849-4851)GAG>TAG	p.E1617*		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1617	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)		GTGCAGGCCTGAGGCCAGGCC	0.592													34	35	---	---	---	---	PASS
RPS6KA2	6196	broad.mit.edu	37	6	167184401	167184401	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167184401C>A	uc003qvd.1	-	3	237	c.124G>T	c.(124-126)GGC>TGC	p.G42C	RPS6KA2_uc003qvc.1_Intron	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	Error:Variant_position_missing_in_Q15349_after_alignment					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)		TCACTTTTGCCCTGTGAAAAT	0.438													56	51	---	---	---	---	PASS
THBS2	7058	broad.mit.edu	37	6	169648981	169648981	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169648981C>A	uc003qwt.2	-	4	388	c.140G>T	c.(139-141)GGG>GTG	p.G47V		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	47	TSP N-terminal.|Heparin-binding (Potential).				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)		GGGGTCGGGCCCGCGGAACTG	0.582													36	28	---	---	---	---	PASS
SUN1	23353	broad.mit.edu	37	7	883097	883097	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:883097G>T	uc011jvp.1	+	6	677	c.598G>T	c.(598-600)GCG>TCG	p.A200S	SUN1_uc010ksa.1_Missense_Mutation_p.A221S|SUN1_uc003sje.1_Missense_Mutation_p.A200S|SUN1_uc003sjf.2_Missense_Mutation_p.A150S|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.A11S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	unc-84 homolog A isoform a	200	Nuclear.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding				0						CGTGCTCACGGCGCACCCCGC	0.587													59	225	---	---	---	---	PASS
INTS1	26173	broad.mit.edu	37	7	1532691	1532691	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1532691T>C	uc003skn.2	-	16	2221	c.2120A>G	c.(2119-2121)AAT>AGT	p.N707S	INTS1_uc003skp.1_Missense_Mutation_p.N54S	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	707					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)		GGTGCACAGATTCAGAACGGC	0.423													18	55	---	---	---	---	PASS
INTS1	26173	broad.mit.edu	37	7	1539521	1539521	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1539521T>A	uc003skn.2	-	5	784	c.683A>T	c.(682-684)AAG>ATG	p.K228M	INTS1_uc003skq.2_Missense_Mutation_p.K228M	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	228					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)		GACGCTCACCTTGACAAAGAT	0.607													4	16	---	---	---	---	PASS
INTS1	26173	broad.mit.edu	37	7	1539889	1539889	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1539889T>G	uc003skn.2	-	4	564	c.463A>C	c.(463-465)AAG>CAG	p.K155Q	INTS1_uc003skq.2_Missense_Mutation_p.K155Q	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	155					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)		CTGTCAGGCTTGGCGCGGGTG	0.632													7	7	---	---	---	---	PASS
RBAK	57786	broad.mit.edu	37	7	5103661	5103661	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5103661G>A	uc010kss.1	+	6	898	c.574G>A	c.(574-576)GAA>AAA	p.E192K	LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E192K	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN	RB-associated KRAB repressor	192	Required for interaction with RB1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(3)|kidney(1)|skin(1)	5		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCACAATGAAGAAAATATTCT	0.328													45	39	---	---	---	---	PASS
RNF216	54476	broad.mit.edu	37	7	5754762	5754762	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5754762C>A	uc003soy.1	-	11	1774	c.1584G>T	c.(1582-1584)ACG>ACT	p.T528T	RNF216_uc010ksz.1_Silent_p.T150T|RNF216_uc010kta.1_Silent_p.T150T|RNF216_uc011jwj.1_Silent_p.T150T|RNF216_uc003sox.1_Silent_p.T585T	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	528	RING-type 1.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTGCGCACTGCGTCAGCTCCT	0.488													141	215	---	---	---	---	PASS
ZDHHC4	55146	broad.mit.edu	37	7	6624666	6624666	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6624666G>T	uc003sqi.2	+	8	874	c.516G>T	c.(514-516)GTG>GTT	p.V172V	ZDHHC4_uc003sql.2_Silent_p.V172V|ZDHHC4_uc003sqh.2_Silent_p.V172V|ZDHHC4_uc003sqj.2_Silent_p.V172V|ZDHHC4_uc003sqk.2_Silent_p.V172V|ZDHHC4_uc003sqm.2_Silent_p.V172V	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	172	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACTGGTGTGTGCACCGTTTCG	0.537													12	54	---	---	---	---	PASS
COL28A1	340267	broad.mit.edu	37	7	7571510	7571510	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7571510G>A	uc003src.1	-	3	267	c.150C>T	c.(148-150)GTC>GTT	p.V50V	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	50	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCACGATGAAGACAATATCTA	0.358													14	75	---	---	---	---	PASS
DGKB	1607	broad.mit.edu	37	7	14622750	14622750	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:14622750G>T	uc003ssz.2	-	17	1636	c.1449C>A	c.(1447-1449)TTC>TTA	p.F483L	DGKB_uc011jxt.1_Missense_Mutation_p.F464L|DGKB_uc003sta.2_Missense_Mutation_p.F483L|DGKB_uc011jxu.1_Missense_Mutation_p.F482L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta isoform 1	483	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			lung(5)|ovary(4)|breast(2)|skin(1)	12					Phosphatidylserine(DB00144)	GAACATCACGGAAAAAGTTTA	0.368													16	31	---	---	---	---	PASS
BZW2	28969	broad.mit.edu	37	7	16705107	16705107	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16705107G>T	uc003stl.2	+	2	217	c.39G>T	c.(37-39)CGG>CGT	p.R13R	BZW2_uc011jxx.1_5'UTR|BZW2_uc003stm.2_5'UTR|BZW2_uc003stj.2_Silent_p.R13R|BZW2_uc003stk.2_Intron|BZW2_uc003stn.1_Silent_p.R13R|BZW2_uc003sto.1_5'UTR|BZW2_uc003stp.2_5'UTR|BZW2_uc010kua.2_Silent_p.R13R	NM_001159767	NP_001153239	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	13					cell differentiation|nervous system development|RNA metabolic process		protein binding			ovary(2)	2	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CAGGCCAGCGGTTCAAAACTC	0.294													28	53	---	---	---	---	PASS
HDAC9	9734	broad.mit.edu	37	7	18914114	18914114	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18914114C>A	uc003suh.2	+	21	2730	c.2689C>A	c.(2689-2691)CCT>ACT	p.P897T	HDAC9_uc003sue.2_Missense_Mutation_p.P897T|HDAC9_uc003sui.2_Missense_Mutation_p.P900T|HDAC9_uc003suj.2_Missense_Mutation_p.P856T|HDAC9_uc003suk.2_Missense_Mutation_p.P145T	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	897	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)	CATCGTGAAGCCTGTGGCCAA	0.483													5	17	---	---	---	---	PASS
DNAH11	8701	broad.mit.edu	37	7	21639426	21639426	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21639426G>C	uc003svc.2	+	15	2720	c.2689G>C	c.(2689-2691)GCC>CCC	p.A897P		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	897	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						GCTCTTCAAAGCCAATCCCTC	0.338									Kartagener_syndrome				16	16	---	---	---	---	PASS
GPNMB	10457	broad.mit.edu	37	7	23309634	23309634	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23309634C>G	uc003swc.2	+	9	1466	c.1305C>G	c.(1303-1305)ATC>ATG	p.I435M	GPNMB_uc003swb.2_Missense_Mutation_p.I423M|GPNMB_uc011jyy.1_Missense_Mutation_p.I377M|GPNMB_uc011jyz.1_Missense_Mutation_p.I324M	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	435	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CCTGCGAGATCACCCAGAACA	0.577													77	145	---	---	---	---	PASS
GPNMB	10457	broad.mit.edu	37	7	23309696	23309696	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23309696G>T	uc003swc.2	+	9	1528	c.1367G>T	c.(1366-1368)CGA>CTA	p.R456L	GPNMB_uc003swb.2_Missense_Mutation_p.R444L|GPNMB_uc011jyy.1_Missense_Mutation_p.R398L|GPNMB_uc011jyz.1_Missense_Mutation_p.R345L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	456	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			ACTGTGAGACGAACCTTCAAT	0.547													55	91	---	---	---	---	PASS
STK31	56164	broad.mit.edu	37	7	23792389	23792389	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23792389G>T	uc003sws.3	+	9	1138	c.1071G>T	c.(1069-1071)AAG>AAT	p.K357N	STK31_uc003swt.3_Missense_Mutation_p.K334N|STK31_uc011jze.1_Missense_Mutation_p.K357N|STK31_uc010kuq.2_Missense_Mutation_p.K334N	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	357							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						ACACTCTGAAGACCTATATAG	0.358													23	92	---	---	---	---	PASS
STK31	56164	broad.mit.edu	37	7	23802424	23802424	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23802424A>T	uc003sws.3	+	11	1365	c.1298A>T	c.(1297-1299)GAA>GTA	p.E433V	STK31_uc003swt.3_Missense_Mutation_p.E410V|STK31_uc011jze.1_Missense_Mutation_p.E433V|STK31_uc010kuq.2_Missense_Mutation_p.E410V	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	433							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						CTCCAGAGTGAAGGGAATATT	0.323													66	100	---	---	---	---	PASS
STK31	56164	broad.mit.edu	37	7	23808706	23808706	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23808706T>G	uc003sws.3	+	12	1576	c.1509T>G	c.(1507-1509)TGT>TGG	p.C503W	STK31_uc003swt.3_Missense_Mutation_p.C480W|STK31_uc011jze.1_Missense_Mutation_p.C503W|STK31_uc010kuq.2_Missense_Mutation_p.C480W	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	503							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						ACTGGAAGTGTGATAAAAGAG	0.393													42	135	---	---	---	---	PASS
HNRNPA2B1	3181	broad.mit.edu	37	7	26235514	26235514	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:26235514C>A	uc003sxr.3	-	8	926	c.710G>T	c.(709-711)GGA>GTA	p.G237V	HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.G225V	NM_031243	NP_112533	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	237	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AAATCCACGTCCACTGCCATA	0.383			T	ETV1	prostate								34	55	---	---	---	---	PASS
HOXA1	3198	broad.mit.edu	37	7	27135534	27135534	+	5'UTR	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27135534G>T	uc003sye.2	-	1					HOXA1_uc003syd.2_5'UTR|uc003syg.2_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	homeobox A1 isoform a							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)	3						TTGTCCATCTGTCACTGAGTG	0.547											OREG0003739|OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=HOXA1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	78	97	---	---	---	---	PASS
CPVL	54504	broad.mit.edu	37	7	29126100	29126100	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29126100C>A	uc003szv.2	-	7	728	c.609G>T	c.(607-609)GAG>GAT	p.E203D	CPVL_uc003szw.2_Missense_Mutation_p.E203D|CPVL_uc003szx.2_Missense_Mutation_p.E203D	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	serine carboxypeptidase vitellogenic-like	203					proteolysis		protein binding|serine-type carboxypeptidase activity			ovary(2)	2						TTCTACTTACCTCCCCAGTGA	0.294													24	103	---	---	---	---	PASS
GGCT	79017	broad.mit.edu	37	7	30544212	30544212	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30544212C>G	uc003tba.2	-	1	241	c.114G>C	c.(112-114)GCG>GCC	p.A38A	GGCT_uc003tbb.2_Silent_p.A38A|GGCT_uc003tbc.2_RNA	NM_024051	NP_076956	O75223	GGCT_HUMAN	gamma-glutamyl cyclotransferase	38					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity				0						AGAAGAACGCCGCCGAGGGGT	0.657													37	72	---	---	---	---	PASS
GHRHR	2692	broad.mit.edu	37	7	31011577	31011577	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31011577G>T	uc003tbx.2	+	6	513	c.465_splice	c.e6-1	p.R155_splice	GHRHR_uc003tbw.1_Splice_Site_p.R155_splice|GHRHR_uc003tby.2_Splice_Site_p.R91_splice|GHRHR_uc003tbz.2_Splice_Site	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			ovary(2)|lung(1)|breast(1)|large_intestine(1)	5					Sermorelin(DB00010)	ATTACCCCCAGGAGGCTCCAC	0.463													16	120	---	---	---	---	PASS
BMPER	168667	broad.mit.edu	37	7	34014336	34014336	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34014336G>C	uc011kap.1	+	6	630	c.516G>C	c.(514-516)CAG>CAC	p.Q172H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	172	VWFC 3.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						AGGGTGTGCAGTATCAAGAAG	0.483													63	109	---	---	---	---	PASS
BMPER	168667	broad.mit.edu	37	7	34091578	34091578	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34091578G>A	uc011kap.1	+	8	896	c.782G>A	c.(781-783)TGC>TAC	p.C261Y		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	261	VWFC 4.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						GCTTGTACCTGCAGGGTAAGG	0.463													50	83	---	---	---	---	PASS
BMPER	168667	broad.mit.edu	37	7	34118635	34118635	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34118635C>T	uc011kap.1	+	12	1359	c.1245C>T	c.(1243-1245)TTC>TTT	p.F415F		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	415	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3						CACGCTCCTTCTCGTGGACCA	0.647													75	108	---	---	---	---	PASS
NPSR1	387129	broad.mit.edu	37	7	34698023	34698023	+	5'UTR	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34698023C>A	uc003teg.1	+	1					AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_5'UTR|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_5'UTR|NPSR1_uc003tei.1_5'UTR|NPSR1_uc010kww.1_5'UTR|NPSR1_uc011kar.1_5'UTR	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN	G protein-coupled receptor for asthma							cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			skin(3)|pancreas(1)	4					Halothane(DB01159)	CCCGCCTGAGCCATGCCAGCC	0.592													20	78	---	---	---	---	PASS
AMPH	273	broad.mit.edu	37	7	38424479	38424479	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38424479G>T	uc003tgu.2	-	21	2097	c.2028C>A	c.(2026-2028)TAC>TAA	p.Y676*	AMPH_uc003tgv.2_Nonsense_Mutation_p.Y634*|AMPH_uc003tgt.2_Nonsense_Mutation_p.Y561*	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	676	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5						CAAGGTCTCTGTACTGAAGCC	0.493													28	70	---	---	---	---	PASS
INHBA	3624	broad.mit.edu	37	7	41729316	41729316	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:41729316C>T	uc003thq.2	-	2	1448	c.1213G>A	c.(1213-1215)GAT>AAT	p.D405N	INHBA_uc003thr.2_Missense_Mutation_p.D405N	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	405					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6						TGACCATCATCATAGTACAAC	0.517										TSP Lung(11;0.080)			50	80	---	---	---	---	PASS
GLI3	2737	broad.mit.edu	37	7	42005297	42005297	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42005297C>A	uc011kbh.1	-	15	3465	c.3374G>T	c.(3373-3375)GGG>GTG	p.G1125V	GLI3_uc011kbg.1_Missense_Mutation_p.G1066V	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1125					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GTCACCGGGCCCGTGGGGCAC	0.657									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				28	93	---	---	---	---	PASS
ZMIZ2	83637	broad.mit.edu	37	7	44804560	44804560	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44804560G>T	uc003tlr.2	+	15	2072	c.1949G>T	c.(1948-1950)GGC>GTC	p.G650V	ZMIZ2_uc003tlq.2_Missense_Mutation_p.G592V|ZMIZ2_uc003tls.2_Missense_Mutation_p.G624V|ZMIZ2_uc003tlt.2_Missense_Mutation_p.G273V|ZMIZ2_uc010kyj.2_Missense_Mutation_p.G172V|ZMIZ2_uc003tlu.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1	650	SP-RING-type.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						TTGCTGGAGGGCCTGGAGGTG	0.557													29	64	---	---	---	---	PASS
ABCA13	154664	broad.mit.edu	37	7	48318020	48318020	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48318020G>T	uc003toq.2	+	18	7254	c.7229G>T	c.(7228-7230)GGG>GTG	p.G2410V	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	2410					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CAAGATCTTGGGTCAGCTCTT	0.368													34	63	---	---	---	---	PASS
ABCA13	154664	broad.mit.edu	37	7	48451964	48451964	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48451964G>T	uc003toq.2	+	41	12268	c.12243G>T	c.(12241-12243)GAG>GAT	p.E4081D	ABCA13_uc010kys.1_Missense_Mutation_p.E1155D|ABCA13_uc010kyt.1_RNA	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4081					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						CTGTTCTGGAGGCCCATGATC	0.373													3	9	---	---	---	---	PASS
DDC	1644	broad.mit.edu	37	7	50530992	50530992	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50530992C>A	uc003tpf.3	-	14	1466	c.1380G>T	c.(1378-1380)GTG>GTT	p.V460V	DDC_uc010kza.2_Silent_p.V375V|DDC_uc003tpg.3_Silent_p.V460V	NM_000790	NP_000781	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid	460					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(2)	2	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AGGCCCGCTGCACATGGGCAG	0.572													5	28	---	---	---	---	PASS
POM121L12	285877	broad.mit.edu	37	7	53103778	53103778	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:53103778C>A	uc003tpz.2	+	1	430	c.414C>A	c.(412-414)ACC>ACA	p.T138T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	138											0						GCCCGGTGACCATCGGGATCG	0.577													19	22	---	---	---	---	PASS
VSTM2A	222008	broad.mit.edu	37	7	54617857	54617857	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:54617857C>A	uc010kzf.2	+	4	1033	c.628C>A	c.(628-630)CAA>AAA	p.Q210K	VSTM2A_uc010kze.2_Missense_Mutation_p.Q210K|VSTM2A_uc003tqc.3_Missense_Mutation_p.Q210K	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2	210						extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)			ACAAAGTCCACAATCAGGTAT	0.493													3	5	---	---	---	---	PASS
EGFR	1956	broad.mit.edu	37	7	55269425	55269425	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55269425C>T	uc003tqk.2	+						EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a						activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTTTCTTTTTCAGAGTGCAAC	0.448		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			35	147	---	---	---	---	PASS
WBSCR28	135886	broad.mit.edu	37	7	73279936	73279936	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73279936G>T	uc003tzk.2	+	3	567	c.531G>T	c.(529-531)AAG>AAT	p.K177N	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.K76N	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	177						integral to membrane				breast(1)	1		Lung NSC(55;0.159)				TGGTAAGGAAGCTCCTGGTAC	0.582													140	198	---	---	---	---	PASS
PTPN12	5782	broad.mit.edu	37	7	77210755	77210755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77210755C>T	uc003ugh.2	+	3	311	c.220C>T	c.(220-222)CGA>TGA	p.R74*	PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_5'UTR|PTPN12_uc010ldq.1_Intron|PTPN12_uc010ldr.1_Intron	NM_002835	NP_002826	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type	74	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			ovary(1)|breast(1)|pancreas(1)	3						TGATCACAGCCGAGTTAAATT	0.313													22	97	---	---	---	---	PASS
MAGI2	9863	broad.mit.edu	37	7	77814960	77814960	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77814960C>A	uc003ugx.2	-	13	2551	c.2297G>T	c.(2296-2298)CGA>CTA	p.R766L	MAGI2_uc003ugy.2_Intron|MAGI2_uc010ldx.1_Intron|MAGI2_uc010ldy.1_Missense_Mutation_p.R375L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	766						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)				GGAATCCATTCGAAAACTGGT	0.353													27	106	---	---	---	---	PASS
SEMA3C	10512	broad.mit.edu	37	7	80374286	80374286	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:80374286C>G	uc003uhj.2	-	18	2742	c.2180G>C	c.(2179-2181)GGG>GCG	p.G727A	SEMA3C_uc011kgw.1_Missense_Mutation_p.G745A	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	727	Arg/Lys-rich (basic).				immune response|response to drug	membrane	receptor activity			ovary(1)	1						GCCATAGTCCCCTCTCATTTT	0.433													92	110	---	---	---	---	PASS
PCLO	27445	broad.mit.edu	37	7	82538238	82538238	+	Silent	SNP	C	G	G	rs78925303	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82538238C>G	uc003uhx.2	-	8	13681	c.13392G>C	c.(13390-13392)CCG>CCC	p.P4464P	PCLO_uc003uhv.2_Silent_p.P4464P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4395					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CCAATCTTTCCGGCAGTTTTC	0.413													41	77	---	---	---	---	PASS
PCLO	27445	broad.mit.edu	37	7	82544515	82544515	+	Missense_Mutation	SNP	C	T	T	rs61995909		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82544515C>T	uc003uhx.2	-	7	13076	c.12787G>A	c.(12787-12789)GGA>AGA	p.G4263R	PCLO_uc003uhv.2_Missense_Mutation_p.G4263R|PCLO_uc010lec.2_Missense_Mutation_p.G1228R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4194					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GTGCCCAGTCCTGTGCCAAGA	0.408													4	31	---	---	---	---	PASS
SEMA3A	10371	broad.mit.edu	37	7	83590949	83590949	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83590949C>A	uc003uhz.2	-	17	2369	c.2054G>T	c.(2053-2055)GGC>GTC	p.G685V		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	685					axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						GGTCTTAGAGCCATCTCCATC	0.433													63	123	---	---	---	---	PASS
GRM3	2913	broad.mit.edu	37	7	86416245	86416245	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86416245C>G	uc003uid.2	+	3	2236	c.1137C>G	c.(1135-1137)ATC>ATG	p.I379M	GRM3_uc010lef.2_Missense_Mutation_p.I377M|GRM3_uc010leg.2_Missense_Mutation_p.I251M|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	379	Extracellular (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)	ACCTGGCCATCGACAGCAGCA	0.567													30	83	---	---	---	---	PASS
ZNF804B	219578	broad.mit.edu	37	7	88964054	88964054	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88964054A>G	uc011khi.1	+	4	2296	c.1758A>G	c.(1756-1758)ACA>ACG	p.T586T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	586						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCTCAACACATCTCTAAAGG	0.383										HNSCC(36;0.09)			35	72	---	---	---	---	PASS
CDK14	5218	broad.mit.edu	37	7	90613556	90613556	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:90613556G>T	uc003uky.2	+	10	1263	c.1041G>T	c.(1039-1041)CTG>CTT	p.L347L	CDK14_uc003ukz.1_Silent_p.L329L|CDK14_uc010les.1_Silent_p.L301L|CDK14_uc011khl.1_Silent_p.L218L	NM_012395	NP_036527	O94921	CDK14_HUMAN	PFTAIRE protein kinase 1	347	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			lung(3)|ovary(1)	4						GAATATTTCTGGTAAGTCCTT	0.343													47	146	---	---	---	---	PASS
KRIT1	889	broad.mit.edu	37	7	91867069	91867069	+	Silent	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91867069T>C	uc003ulq.1	-	4	438	c.267A>G	c.(265-267)AAA>AAG	p.K89K	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulr.1_Silent_p.K89K|KRIT1_uc003uls.1_Silent_p.K89K|KRIT1_uc003ult.1_Silent_p.K89K|KRIT1_uc003ulu.1_Silent_p.K89K|KRIT1_uc003ulv.1_Silent_p.K89K	NM_194456	NP_919438	O00522	KRIT1_HUMAN	krev interaction trapped 1 isoform 1	89					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTACAACTCGTTTTCCTAATC	0.289									Familial_Cerebral_Cavernous_Angioma				15	70	---	---	---	---	PASS
HEPACAM2	253012	broad.mit.edu	37	7	92848547	92848547	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92848547G>T	uc003umm.2	-	2	320	c.297C>A	c.(295-297)ACC>ACA	p.T99T	HEPACAM2_uc003uml.2_Silent_p.T87T|HEPACAM2_uc010lff.2_Silent_p.T87T|HEPACAM2_uc011khy.1_Silent_p.T122T	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	99	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5						GTGGCATCATGGTGAACTTGT	0.448													47	51	---	---	---	---	PASS
SLC25A13	10165	broad.mit.edu	37	7	95775920	95775920	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95775920C>A	uc003uof.3	-	14	1591	c.1400G>T	c.(1399-1401)CGA>CTA	p.R467L	SLC25A13_uc003uog.3_Missense_Mutation_p.R468L|SLC25A13_uc011kik.1_Missense_Mutation_p.R359L	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	467	Solcar 2.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AGCACTGACTCGAGGACCAGT	0.423													92	193	---	---	---	---	PASS
DLX5	1749	broad.mit.edu	37	7	96650126	96650126	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96650126G>T	uc003uon.2	-	3	1000	c.792C>A	c.(790-792)GCC>GCA	p.A264A		NM_005221	NP_005212	P56178	DLX5_HUMAN	distal-less homeobox 5	264					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGATTGAGCTGGCTGCACTTG	0.622													31	43	---	---	---	---	PASS
CYP3A43	64816	broad.mit.edu	37	7	99459374	99459374	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99459374C>A	uc003urx.1	+	11	1268	c.1165C>A	c.(1165-1167)CCC>ACC	p.P389T	CYP3A43_uc003ury.1_Missense_Mutation_p.P389T|CYP3A43_uc003urz.1_Missense_Mutation_p.P389T|CYP3A43_uc003usa.1_RNA|CYP3A43_uc010lgi.1_Missense_Mutation_p.P279T|CYP3A43_uc003usb.1_Missense_Mutation_p.P249T	NM_057095	NP_476436	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A,	389			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)|skin(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGTGTTCATTCCCAAAGGGTT	0.453													61	95	---	---	---	---	PASS
ZNF3	7551	broad.mit.edu	37	7	99668855	99668855	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99668855G>T	uc003usq.2	-	6	1559	c.1252C>A	c.(1252-1254)CAC>AAC	p.H418N	ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.H418N|ZNF3_uc010lgj.2_Missense_Mutation_p.H382N|ZNF3_uc003uss.2_Missense_Mutation_p.H425N|ZNF3_uc003ust.3_Missense_Mutation_p.H418N	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	418	C2H2-type 8.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TCTCCAGTGTGAATTCTCTGA	0.498													90	108	---	---	---	---	PASS
AP4M1	9179	broad.mit.edu	37	7	99701305	99701305	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99701305G>C	uc003utb.3	+	6	741	c.533G>C	c.(532-534)CGC>CCC	p.R178P	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.R132P|AP4M1_uc010lgl.1_Missense_Mutation_p.R178P|AP4M1_uc003utc.3_Missense_Mutation_p.R185P|AP4M1_uc010lgm.2_Missense_Mutation_p.R50P|AP4M1_uc003utd.2_Missense_Mutation_p.R178P|AP4M1_uc011kjh.1_Missense_Mutation_p.R130P|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Missense_Mutation_p.R50P	NM_004722	NP_004713	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	178					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGTCCAGTCGCTCTGACCAG	0.498													48	139	---	---	---	---	PASS
GAL3ST4	79690	broad.mit.edu	37	7	99757738	99757738	+	Missense_Mutation	SNP	C	T	T	rs139840294	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99757738C>T	uc003utt.2	-	3	2291	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R425H|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R363H	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	425	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGGAAGGGGCGGAACCGGCG	0.582													25	98	---	---	---	---	PASS
C7orf47	221908	broad.mit.edu	37	7	100033915	100033915	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100033915G>T	uc003uuy.1	-	1	180	c.83C>A	c.(82-84)CCC>CAC	p.P28H	C7orf47_uc003uux.1_5'UTR	NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	hypothetical protein LOC221908	28	Pro-rich.									ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGGACTTGGGGCTCCGGGGG	0.682													9	14	---	---	---	---	PASS
MUC17	140453	broad.mit.edu	37	7	100676657	100676657	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100676657G>C	uc003uxp.1	+	3	2013	c.1960G>C	c.(1960-1962)GTT>CTT	p.V654L	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	654	Extracellular (Potential).|8.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AACAACTCCTGTTGACTCCAA	0.473													93	220	---	---	---	---	PASS
MUC17	140453	broad.mit.edu	37	7	100677014	100677014	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100677014G>A	uc003uxp.1	+	3	2370	c.2317G>A	c.(2317-2319)GAC>AAC	p.D773N	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	773	Extracellular (Potential).|Ser-rich.|10.|59 X approximate tandem repeats.					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)					AACTCCTCTTGACACAAGCAC	0.478													93	221	---	---	---	---	PASS
C7orf52	375607	broad.mit.edu	37	7	100815508	100815508	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100815508G>T	uc003uxy.1	-	4	1201	c.962C>A	c.(961-963)GCC>GAC	p.A321D	C7orf52_uc003uxz.1_Missense_Mutation_p.A321D	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	hypothetical protein LOC375607	321							N-acetyltransferase activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGGCGCGGGGCCTGGCGCTG	0.672													6	24	---	---	---	---	PASS
CUX1	1523	broad.mit.edu	37	7	101801838	101801838	+	Splice_Site	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:101801838A>G	uc003uyx.3	+	9	713	c.675_splice	c.e9-2	p.K225_splice	CUX1_uc003uys.3_Splice_Site_p.K236_splice|CUX1_uc003uyt.2_Splice_Site_p.K236_splice|CUX1_uc011kkn.1_Splice_Site_p.K199_splice|CUX1_uc003uyw.2_Splice_Site_p.K190_splice|CUX1_uc003uyv.2_Splice_Site_p.K220_splice|CUX1_uc003uyu.2_Splice_Site_p.K236_splice	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						TCACCCTCCTAGGGCCGACGA	0.572													20	54	---	---	---	---	PASS
RELN	5649	broad.mit.edu	37	7	103207056	103207056	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103207056G>A	uc003vca.2	-	32	4899	c.4739C>T	c.(4738-4740)CCG>CTG	p.P1580L	RELN_uc010liz.2_Missense_Mutation_p.P1580L	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1580					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)		ACCATGTTGCGGTTGCCACCA	0.483													32	57	---	---	---	---	PASS
RELN	5649	broad.mit.edu	37	7	103276670	103276670	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103276670G>T	uc003vca.2	-						RELN_uc010liz.2_Intron	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a						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)		ATTCTACCCTGCCTTCACTCA	0.383													9	19	---	---	---	---	PASS
PIK3CG	5294	broad.mit.edu	37	7	106509447	106509447	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106509447G>T	uc003vdv.3	+	2	1526	c.1441G>T	c.(1441-1443)GTC>TTC	p.V481F	PIK3CG_uc003vdu.2_Missense_Mutation_p.V481F|PIK3CG_uc003vdw.2_Missense_Mutation_p.V481F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	481					G-protein coupled receptor protein 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|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						TGGAGAATACGTCCTCCACAT	0.502													24	99	---	---	---	---	PASS
SLC26A3	1811	broad.mit.edu	37	7	107418651	107418651	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107418651G>T	uc003ver.2	-	13	1694	c.1483C>A	c.(1483-1485)CAA>AAA	p.Q495K	SLC26A3_uc003ves.2_Missense_Mutation_p.Q460K	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	495					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						GTTAGCAGTTGAAATGCCACA	0.468													7	18	---	---	---	---	PASS
PNPLA8	50640	broad.mit.edu	37	7	108142935	108142935	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:108142935C>A	uc003vff.1	-	6	1765	c.1358G>T	c.(1357-1359)AGG>ATG	p.R453M	PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.R453M|PNPLA8_uc003vfi.1_Missense_Mutation_p.R353M|PNPLA8_uc003vfj.1_Missense_Mutation_p.R453M|PNPLA8_uc003vfk.1_Missense_Mutation_p.R353M	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	453	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(2)	2						CTAGCCTTACCTTGTTCCTCC	0.269													18	55	---	---	---	---	PASS
DOCK4	9732	broad.mit.edu	37	7	111508203	111508203	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111508203T>G	uc003vfx.2	-	22	2386	c.2117A>C	c.(2116-2118)GAA>GCA	p.E706A	DOCK4_uc003vfw.2_Missense_Mutation_p.E147A|DOCK4_uc003vfy.2_Missense_Mutation_p.E706A|DOCK4_uc003vga.1_Missense_Mutation_p.E311A	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	706					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)				AAAAATGTATTCTTGTGCCTT	0.378													6	34	---	---	---	---	PASS
DOCK4	9732	broad.mit.edu	37	7	111509627	111509627	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111509627C>A	uc003vfx.2	-						DOCK4_uc003vfw.2_Intron|DOCK4_uc003vfy.2_Intron|DOCK4_uc003vga.1_Intron	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						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)				AGCATGTTATCACCTTCAGCA	0.443													12	53	---	---	---	---	PASS
CTTNBP2	83992	broad.mit.edu	37	7	117432359	117432359	+	Silent	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117432359T>G	uc003vjf.2	-	4	983	c.891A>C	c.(889-891)ACA>ACC	p.T297T		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	297										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGTTCCTTCTGTTCCCACAG	0.443													30	142	---	---	---	---	PASS
KCND2	3751	broad.mit.edu	37	7	119915167	119915167	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:119915167G>C	uc003vjj.1	+	1	1446	c.481G>C	c.(481-483)GCC>CCC	p.A161P		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	161	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)					TGGGGAGAGCGCCTTGCCCAC	0.607													21	64	---	---	---	---	PASS
AASS	10157	broad.mit.edu	37	7	121738556	121738556	+	Nonsense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121738556T>A	uc003vka.2	-	14	1699	c.1603A>T	c.(1603-1605)AAA>TAA	p.K535*	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Nonsense_Mutation_p.K535*|AASS_uc011knw.1_Nonsense_Mutation_p.K23*	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	535	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTTCTTGTTTACAAATGTCC	0.333													11	51	---	---	---	---	PASS
AASS	10157	broad.mit.edu	37	7	121738574	121738574	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121738574C>A	uc003vka.2	-	14	1681	c.1585G>T	c.(1585-1587)GTT>TTT	p.V529F	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.V529F|AASS_uc011knw.1_Missense_Mutation_p.V17F	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	529	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCCATGCTAACAGGATTAATA	0.343													14	38	---	---	---	---	PASS
AASS	10157	broad.mit.edu	37	7	121773664	121773664	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121773664C>A	uc003vka.2	-	1	213	c.117G>T	c.(115-117)AGG>AGT	p.R39S	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.R39S|AASS_uc011knw.1_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	39	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTAGCGGGGCCCTTCTCTCCC	0.577													38	82	---	---	---	---	PASS
RNF148	378925	broad.mit.edu	37	7	122342063	122342063	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122342063C>T	uc003vkk.1	-	1	959	c.742G>A	c.(742-744)GAT>AAT	p.D248N	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	ring finger protein 148 precursor	248						integral to membrane	zinc ion binding				0						AATTCCTCATCCCCTTCTTTG	0.403													7	36	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	7	124116644	124116644	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:124116644G>C	uc011kod.1	+	1	220	c.220G>C	c.(220-222)GAA>CAA	p.E74Q		NM_001085395	NP_001078864			RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2;          Short=CTD phosphatase SSU72-like protein 2;          EC=3.1.3.16;																		GAAAGATAGAGAATGCTACAC	0.418													40	111	---	---	---	---	PASS
GRM8	2918	broad.mit.edu	37	7	126173635	126173635	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126173635C>G	uc003vlr.2	-	8	2112	c.1801G>C	c.(1801-1803)GTG>CTG	p.V601L	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.V601L|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	601	Helical; Name=1; (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)	GTCACGATCACAAAGGTGGTG	0.493										HNSCC(24;0.065)			21	40	---	---	---	---	PASS
PAX4	5078	broad.mit.edu	37	7	127253566	127253566	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127253566G>T	uc010lld.1	-	5	765	c.559C>A	c.(559-561)CCT>ACT	p.P187T	PAX4_uc003vmf.2_Missense_Mutation_p.P185T|PAX4_uc003vmg.1_Missense_Mutation_p.P187T|PAX4_uc003vmh.2_Missense_Mutation_p.P185T	NM_006193	NP_006184	O43316	PAX4_HUMAN	paired box 4	195	Homeobox.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						ACTGAATCAGGATACTGCCCA	0.582													21	77	---	---	---	---	PASS
SND1	27044	broad.mit.edu	37	7	127722019	127722019	+	Intron	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127722019G>A	uc003vmi.2	+						SND1_uc010lle.2_Intron	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1						gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3						TCCTTCTCTAGAGGTTAACAT	0.562													31	82	---	---	---	---	PASS
FAM40B	57464	broad.mit.edu	37	7	129091497	129091497	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129091497G>T	uc011koy.1	+	4	358	c.318G>T	c.(316-318)AAG>AAT	p.K106N	FAM40B_uc003vow.2_Missense_Mutation_p.K106N	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	106											0						ATGCCCAAAAGGCCTATATAA	0.547													28	43	---	---	---	---	PASS
FAM40B	57464	broad.mit.edu	37	7	129093116	129093116	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129093116G>T	uc011koy.1	+	5	498	c.458G>T	c.(457-459)AGG>ATG	p.R153M	FAM40B_uc003vow.2_Missense_Mutation_p.R153M	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	hypothetical protein LOC57464 isoform a	153											0						CACTGGTCCAGGTACAACTGC	0.522													23	68	---	---	---	---	PASS
NUP205	23165	broad.mit.edu	37	7	135261844	135261844	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135261844A>G	uc003vsw.2	+	5	647	c.616A>G	c.(616-618)AGA>GGA	p.R206G	NUP205_uc011kqa.1_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	206					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						ACAGCGAGAGAGAGGTTTGGG	0.403													22	64	---	---	---	---	PASS
NUP205	23165	broad.mit.edu	37	7	135312824	135312824	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135312824T>C	uc003vsw.2	+	34	4928	c.4897T>C	c.(4897-4899)TCT>CCT	p.S1633P	NUP205_uc003vsx.2_RNA	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1633					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						CATCCTCACATCTAGTATGGC	0.433													54	132	---	---	---	---	PASS
CHRM2	1129	broad.mit.edu	37	7	136700561	136700561	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:136700561G>T	uc003vtf.1	+	4	1572	c.949G>T	c.(949-951)GAT>TAT	p.D317Y	CHRM2_uc003vtg.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtj.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtk.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtl.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtm.1_Missense_Mutation_p.D317Y|CHRM2_uc003vti.1_Missense_Mutation_p.D317Y|CHRM2_uc003vto.1_Missense_Mutation_p.D317Y|CHRM2_uc003vtn.1_Missense_Mutation_p.D317Y|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	317	Cytoplasmic (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)	CCATTCCAAAGATGAGAACTC	0.463													17	80	---	---	---	---	PASS
DGKI	9162	broad.mit.edu	37	7	137075965	137075965	+	3'UTR	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137075965G>C	uc003vtt.2	-	34					DGKI_uc003vtu.2_3'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota						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						GAATACCAGGGTCAAACAGCA	0.517													27	116	---	---	---	---	PASS
DGKI	9162	broad.mit.edu	37	7	137206685	137206685	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137206685C>G	uc003vtt.2	-	21	2176	c.2175G>C	c.(2173-2175)AGG>AGC	p.R725S	DGKI_uc003vtu.2_Missense_Mutation_p.R425S	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	725					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						TCACCCGGATCCTCAGACGAT	0.453													15	51	---	---	---	---	PASS
UBN2	254048	broad.mit.edu	37	7	138977972	138977972	+	Intron	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138977972G>A	uc011kqr.1	+							NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	ubinuclein 2											ovary(1)|skin(1)	2						CCTGGTTTCTGCACAGTCCAC	0.398													24	63	---	---	---	---	PASS
JHDM1D	80853	broad.mit.edu	37	7	139826556	139826556	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139826556C>G	uc003vvm.2	-	6	773	c.769G>C	c.(769-771)GAT>CAT	p.D257H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	jumonji C domain containing histone demethylase	257	JmjC.				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)					ACTGAATCATCTGGCCAATAA	0.403													32	83	---	---	---	---	PASS
WEE2	494551	broad.mit.edu	37	7	141420746	141420746	+	Nonsense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141420746T>A	uc003vwn.2	+	5	1176	c.770T>A	c.(769-771)TTG>TAG	p.L257*	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	257	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					AATTCGGCTTTGCATGAAGTT	0.393													59	166	---	---	---	---	PASS
MGAM	8972	broad.mit.edu	37	7	141736022	141736022	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141736022G>A	uc003vwy.2	+	17	2067	c.2013G>A	c.(2011-2013)AGG>AGA	p.R671R		NM_004668	NP_004659	O43451	MGA_HUMAN	maltase-glucoamylase	671	Lumenal (Potential).|Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			ovary(2)	2	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGCTCTGTAGGCGGTGGATGC	0.478													15	14	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	7	142168377	142168377	+	Intron	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142168377G>A	uc011kro.1	+						uc011krp.1_Intron|uc011krr.1_Intron|uc011krx.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGCCGGGCTGTGCCAAGCTG	0.532													28	60	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	7	142168565	142168565	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142168565C>A	uc011kro.1	+						uc011krp.1_Intron|uc011krr.1_Intron|uc011krx.1_Intron|uc011kry.1_Missense_Mutation_p.W53L					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTTGGTACCAGGACACAGT	0.522													27	85	---	---	---	---	PASS
OR2F2	135948	broad.mit.edu	37	7	143632509	143632509	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143632509T>C	uc011ktv.1	+	1	184	c.184T>C	c.(184-186)TTT>CTT	p.F62L		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	62	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CATGTATTTCTTTCTCACCAA	0.502													97	248	---	---	---	---	PASS
OR6B1	135946	broad.mit.edu	37	7	143701517	143701517	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143701517G>T	uc003wdt.1	+	1	428	c.428G>T	c.(427-429)CGC>CTC	p.R143L		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Melanoma(164;0.0783)					CTCTGCTTCCGCCTCGCTCTT	0.562													20	48	---	---	---	---	PASS
CNTNAP2	26047	broad.mit.edu	37	7	147600693	147600693	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147600693A>T	uc003weu.1	+	14	2651	c.2135A>T	c.(2134-2136)AAC>ATC	p.N712I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	712	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGCAAAGCCAACGAGAAGCAC	0.498										HNSCC(39;0.1)			16	40	---	---	---	---	PASS
CNTNAP2	26047	broad.mit.edu	37	7	147600694	147600694	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147600694C>A	uc003weu.1	+	14	2652	c.2136C>A	c.(2134-2136)AAC>AAA	p.N712K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	712	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAAAGCCAACGAGAAGCACT	0.502										HNSCC(39;0.1)			16	40	---	---	---	---	PASS
ZNF425	155054	broad.mit.edu	37	7	148801268	148801268	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148801268C>A	uc003wfj.2	-	4	1768	c.1695G>T	c.(1693-1695)TGG>TGT	p.W565C		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	565	C2H2-type 13.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGAGGCCTTCCAGGAGAAGC	0.617													18	30	---	---	---	---	PASS
ZNF425	155054	broad.mit.edu	37	7	148801269	148801269	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148801269C>A	uc003wfj.2	-	4	1767	c.1694G>T	c.(1693-1695)TGG>TTG	p.W565L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	565	C2H2-type 13.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGAGGCCTTCCAGGAGAAGCT	0.617													18	29	---	---	---	---	PASS
ZNF282	8427	broad.mit.edu	37	7	148921516	148921516	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148921516G>C	uc003wfm.2	+	8	1898	c.1793G>C	c.(1792-1794)GGC>GCC	p.G598A	ZNF282_uc011kun.1_3'UTR|ZNF282_uc003wfo.2_3'UTR	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	598					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCACACGGGCGAGCGGCCT	0.642													7	24	---	---	---	---	PASS
GIMAP8	155038	broad.mit.edu	37	7	150174527	150174527	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150174527G>C	uc003whj.2	+	5	1987	c.1657G>C	c.(1657-1659)GGA>CGA	p.G553R		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	553						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)		GGCCATCTTTGGAGCAGACTT	0.483													28	93	---	---	---	---	PASS
GIMAP7	168537	broad.mit.edu	37	7	150217668	150217668	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150217668T>A	uc003whk.2	+	2	736	c.606T>A	c.(604-606)TCT>TCA	p.S202S		NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	202							GTP binding			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTACTTTTCTGATGACATAT	0.418													22	56	---	---	---	---	PASS
DLGAP2	9228	broad.mit.edu	37	8	1514000	1514000	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1514000C>A	uc003wpl.2	+	3	1239	c.1142C>A	c.(1141-1143)GCA>GAA	p.A381E	DLGAP2_uc003wpm.2_Missense_Mutation_p.A381E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	discs large-associated protein 2	460					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding				0		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAAGTCGGCAATCCTACCA	0.557													6	12	---	---	---	---	PASS
CSMD1	64478	broad.mit.edu	37	8	3087562	3087562	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3087562C>A	uc011kwk.1	-	27	4738	c.4348G>T	c.(4348-4350)GCT>TCT	p.A1450S	CSMD1_uc011kwj.1_Missense_Mutation_p.A842S|CSMD1_uc003wqe.2_Missense_Mutation_p.A606S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1450	Extracellular (Potential).|Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTGATACCTATGCATGTA	0.418													11	32	---	---	---	---	PASS
RP1L1	94137	broad.mit.edu	37	8	10466885	10466885	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466885C>T	uc003wtc.2	-	4	4952	c.4723G>A	c.(4723-4725)GAG>AAG	p.E1575K		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1575					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		TTCTGGAGCTCTCTCTTGGTG	0.677													4	10	---	---	---	---	PASS
SGCZ	137868	broad.mit.edu	37	8	14022118	14022118	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:14022118G>T	uc003wwq.2	-	5	1178	c.518C>A	c.(517-519)ACC>AAC	p.T173N	SGCZ_uc010lss.2_Missense_Mutation_p.T126N	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	160	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AGCCCCAATGGTAATCTCATC	0.413													20	38	---	---	---	---	PASS
MTUS1	57509	broad.mit.edu	37	8	17541903	17541903	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:17541903C>A	uc003wxv.2	-	7	3246	c.2772G>T	c.(2770-2772)CAG>CAT	p.Q924H	MTUS1_uc003wxt.2_Missense_Mutation_p.Q171H|MTUS1_uc011kyg.1_Missense_Mutation_p.Q69H|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.Q870H|MTUS1_uc003wxs.2_Missense_Mutation_p.Q90H|hsa-mir-548v|MI0014174_5'Flank	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	mitochondrial tumor suppressor 1 isoform 1	924						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				ovary(1)|skin(1)	2				Colorectal(111;0.0778)		AGGCAAGAAGCTGCTTGAGCT	0.458													45	92	---	---	---	---	PASS
BMP1	649	broad.mit.edu	37	8	22049654	22049654	+	Silent	SNP	G	T	T	rs76021885	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22049654G>T	uc003xbg.2	+	9	1414	c.1170G>T	c.(1168-1170)GCG>GCT	p.A390A	BMP1_uc003xba.2_Silent_p.A390A|BMP1_uc003xbb.2_Silent_p.A390A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.A139A|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.A139A|BMP1_uc011kzc.1_Silent_p.A139A|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	NM_006129	NP_006120	P13497	BMP1_HUMAN	bone morphogenetic protein 1 isoform 3	390	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|breast(1)	3				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGGAAGGCGCCCCTCCGAG	0.622													12	25	---	---	---	---	PASS
ADAM7	8756	broad.mit.edu	37	8	24324400	24324400	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24324400C>T	uc003xeb.2	+	6	591	c.478C>T	c.(478-480)CTG>TTG	p.L160L	ADAM7_uc003xea.1_Silent_p.L160L	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	160	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)		CAAATATAACCTGAGGGTGCC	0.383													37	70	---	---	---	---	PASS
CDCA2	157313	broad.mit.edu	37	8	25364168	25364168	+	Silent	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25364168T>C	uc003xep.1	+	15	2465	c.1986T>C	c.(1984-1986)TAT>TAC	p.Y662Y	PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Silent_p.Y647Y|CDCA2_uc003xer.1_Silent_p.Y325Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	662				Y -> D (in Ref. 4; BG354575).	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)		TCTGCTCTTATATAAAAAGTT	0.313													40	56	---	---	---	---	PASS
ADRA1A	148	broad.mit.edu	37	8	26627827	26627827	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26627827T>C	uc003xfh.1	-	2	1676	c.1240A>G	c.(1240-1242)AAA>GAA	p.K414E	ADRA1A_uc003xfc.1_Missense_Mutation_p.K414E|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.K414E|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.K414E	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	414	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GATTGGTCTTTGGACACTGTA	0.507													41	70	---	---	---	---	PASS
KIF13B	23303	broad.mit.edu	37	8	28991548	28991548	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28991548C>A	uc003xhh.3	-						uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	kinesin family member 13B						microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding				0		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CTCTGGAAAACAAACTCACAT	0.443													7	17	---	---	---	---	PASS
TEX15	56154	broad.mit.edu	37	8	30700887	30700887	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30700887C>A	uc003xil.2	-	1	5647	c.5647G>T	c.(5647-5649)GGT>TGT	p.G1883C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1883										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTCCAGACCATAAAGAGAT	0.343													56	110	---	---	---	---	PASS
TEX15	56154	broad.mit.edu	37	8	30703577	30703577	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30703577G>C	uc003xil.2	-	1	2957	c.2957C>G	c.(2956-2958)TCT>TGT	p.S986C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	986										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTACATAAAGATGCTTCATC	0.338													48	98	---	---	---	---	PASS
KCNU1	157855	broad.mit.edu	37	8	36788571	36788571	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:36788571G>T	uc010lvw.2	+	25	2926	c.2839G>T	c.(2839-2841)GTG>TTG	p.V947L	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	947	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGTCTATGGTGTGGCAGATAG	0.443													35	48	---	---	---	---	PASS
PXDNL	137902	broad.mit.edu	37	8	52322096	52322096	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52322096G>A	uc003xqu.3	-	17	2189	c.2088C>T	c.(2086-2088)TCC>TCT	p.S696S	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	696					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)				GGGAGCGCGGGGACACCAAGT	0.612													9	35	---	---	---	---	PASS
ST18	9705	broad.mit.edu	37	8	53076624	53076624	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53076624G>T	uc003xqz.2	-	8	1478	c.1322C>A	c.(1321-1323)GCT>GAT	p.A441D	ST18_uc011ldq.1_Missense_Mutation_p.A88D|ST18_uc011ldr.1_Missense_Mutation_p.A406D|ST18_uc011lds.1_Missense_Mutation_p.A346D|ST18_uc003xra.2_Missense_Mutation_p.A441D|ST18_uc003xrb.2_Missense_Mutation_p.A441D	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CAATTTTTCAGCTGCAGCAAT	0.418													48	59	---	---	---	---	PASS
ST18	9705	broad.mit.edu	37	8	53092721	53092721	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53092721C>T	uc003xqz.2	-	4	394	c.238G>A	c.(238-240)GAC>AAC	p.D80N	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D45N|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.D80N|ST18_uc003xrb.2_Missense_Mutation_p.D80N|ST18_uc010lyb.2_RNA	NM_014682	NP_055497	O60284	ST18_HUMAN	suppression of tumorigenicity 18	80						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGCCATCGTCCTCTGTCCTG	0.532													111	172	---	---	---	---	PASS
TRIM55	84675	broad.mit.edu	37	8	67064773	67064773	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67064773G>T	uc003xvv.2	+	8	1373	c.1147G>T	c.(1147-1149)GAG>TAG	p.E383*	TRIM55_uc003xvu.2_Nonsense_Mutation_p.E383*|TRIM55_uc003xvw.2_Nonsense_Mutation_p.E383*|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	383						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTCTCAGGTGGAGCTGCAGGC	0.473													25	55	---	---	---	---	PASS
TRIM55	84675	broad.mit.edu	37	8	67064781	67064781	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67064781G>T	uc003xvv.2	+	8	1381	c.1155G>T	c.(1153-1155)CAG>CAT	p.Q385H	TRIM55_uc003xvu.2_Missense_Mutation_p.Q385H|TRIM55_uc003xvw.2_Missense_Mutation_p.Q385H|TRIM55_uc003xvx.2_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	385						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TGGAGCTGCAGGCTGCCCCTG	0.493													24	63	---	---	---	---	PASS
MSC	9242	broad.mit.edu	37	8	72755880	72755880	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:72755880C>T	uc003xyx.1	-	1	852	c.534G>A	c.(532-534)CTG>CTA	p.L178L	uc011lff.1_RNA|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	178					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GCGCCCCTACCAGGTTCACTG	0.647											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	46	---	---	---	---	PASS
KCNB2	9312	broad.mit.edu	37	8	73479991	73479991	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:73479991G>T	uc003xzb.2	+	2	610	c.22G>T	c.(22-24)GGC>TGC	p.G8C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	8	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GGCTCCCCCGGGCTTAAACAG	0.498													32	144	---	---	---	---	PASS
ZFHX4	79776	broad.mit.edu	37	8	77764403	77764403	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77764403G>T	uc003yav.2	+	10	5498	c.5111G>T	c.(5110-5112)AGC>ATC	p.S1704I	ZFHX4_uc003yau.1_Missense_Mutation_p.S1749I|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1704I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1704	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGAGTTCAGCTTGGGGCCA	0.512										HNSCC(33;0.089)			12	66	---	---	---	---	PASS
SLC10A5	347051	broad.mit.edu	37	8	82606632	82606632	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82606632C>T	uc011lfs.1	-	1	576	c.576G>A	c.(574-576)GGG>GGA	p.G192G		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	solute carrier family 10 (sodium/bile acid	192	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0						ACAAAAGAAACCCGCAAAATG	0.468													38	186	---	---	---	---	PASS
ATP6V0D2	245972	broad.mit.edu	37	8	87153719	87153719	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87153719T>G	uc003ydp.1	+	4	591	c.522T>G	c.(520-522)GAT>GAG	p.D174E		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0						ATGCTCTAGATGAACTGAATA	0.333													40	102	---	---	---	---	PASS
SLC7A13	157724	broad.mit.edu	37	8	87229835	87229835	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87229835G>T	uc003ydq.1	-	3	1141	c.1043C>A	c.(1042-1044)TCC>TAC	p.S348Y	SLC7A13_uc003ydr.1_Missense_Mutation_p.S339Y	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	348	Helical; Name=9; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						AATTGCAAGGGATCCCAAAGT	0.358													40	141	---	---	---	---	PASS
SLC7A13	157724	broad.mit.edu	37	8	87235208	87235208	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87235208G>T	uc003ydq.1	-	2	908	c.810C>A	c.(808-810)CTC>CTA	p.L270L	SLC7A13_uc003ydr.1_Silent_p.L261L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	270	Extracellular (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						AACCTGAAGAGAGAATTTCCC	0.383													72	110	---	---	---	---	PASS
MMP16	4325	broad.mit.edu	37	8	89053926	89053926	+	Missense_Mutation	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89053926A>C	uc003yeb.3	-	10	1869	c.1587T>G	c.(1585-1587)TTT>TTG	p.F529L		NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	529	Hemopexin-like 4.|Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						CACAGCCCATAAAATCCTTGA	0.428													47	71	---	---	---	---	PASS
MMP16	4325	broad.mit.edu	37	8	89128775	89128775	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89128775G>A	uc003yeb.3	-	6	1326	c.1044C>T	c.(1042-1044)AAC>AAT	p.N348N	MMP16_uc003yec.2_Silent_p.N348N	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	348	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						TAGCTAGAGTGTTAAAGTTCC	0.443													14	89	---	---	---	---	PASS
MMP16	4325	broad.mit.edu	37	8	89128850	89128850	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89128850T>A	uc003yeb.3	-	6	1251	c.969A>T	c.(967-969)CCA>CCT	p.P323P	MMP16_uc003yec.2_Silent_p.P323P	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	323	Extracellular (Potential).				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						GAGGAGGTTTTGGCCTGTCAT	0.542													52	194	---	---	---	---	PASS
SLC26A7	115111	broad.mit.edu	37	8	92406201	92406201	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92406201A>G	uc003yex.2	+	19	2147	c.1869A>G	c.(1867-1869)CTA>CTG	p.L623L	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.L623L|SLC26A7_uc003yfa.2_Silent_p.L623L	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	623	STAS.|Cytoplasmic (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATGGAAACCTAGACTCAGAGA	0.348													60	103	---	---	---	---	PASS
OSR2	116039	broad.mit.edu	37	8	99961435	99961435	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99961435C>G	uc003yir.2	+	2	790	c.255C>G	c.(253-255)TTC>TTG	p.F85L	OSR2_uc010mbn.2_Missense_Mutation_p.F85L|OSR2_uc003yiq.2_Missense_Mutation_p.F85L|OSR2_uc011lgx.1_Missense_Mutation_p.F206L	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	85					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GCTTCCCCTTCCCGGCCCTGC	0.657													59	94	---	---	---	---	PASS
OSR2	116039	broad.mit.edu	37	8	99963899	99963899	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99963899C>A	uc003yir.2	+	4	1444	c.909C>A	c.(907-909)AGC>AGA	p.S303R	OSR2_uc003yiq.2_Missense_Mutation_p.A276D|OSR2_uc011lgx.1_Missense_Mutation_p.S424R	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	303	C2H2-type 5; degenerate.				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			central_nervous_system(1)	1	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGCGGCACAGCCTGACTCACA	0.602													6	31	---	---	---	---	PASS
UBR5	51366	broad.mit.edu	37	8	103324640	103324640	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103324640C>A	uc003ykr.1	-	17	2114	c.2081G>T	c.(2080-2082)AGC>ATC	p.S694I	UBR5_uc003yks.1_Missense_Mutation_p.S694I	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	694					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)			TGGACCAGAGCTGTTCTGACA	0.408													64	87	---	---	---	---	PASS
EBAG9	9166	broad.mit.edu	37	8	110569170	110569170	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110569170A>T	uc003ynf.2	+	5	563	c.328A>T	c.(328-330)ATT>TTT	p.I110F	EBAG9_uc010mcn.1_RNA|EBAG9_uc003yng.2_Missense_Mutation_p.I110F	NM_198120	NP_936056	O00559	RCAS1_HUMAN	estrogen receptor binding site associated	110	Cytoplasmic (Potential).				apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity				0			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TCAGATTGTTATTAAGAAGAG	0.308													24	56	---	---	---	---	PASS
CSMD3	114788	broad.mit.edu	37	8	113332171	113332171	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113332171G>T	uc003ynu.2	-	46	7364	c.7205C>A	c.(7204-7206)CCC>CAC	p.P2402H	CSMD3_uc003yns.2_Missense_Mutation_p.P1604H|CSMD3_uc003ynt.2_Missense_Mutation_p.P2362H|CSMD3_uc011lhx.1_Missense_Mutation_p.P2298H|CSMD3_uc003ynw.1_Missense_Mutation_p.P113H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2402	Extracellular (Potential).|Sushi 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTCAGCATTGGGCACAGGTGG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	176	---	---	---	---	PASS
CSMD3	114788	broad.mit.edu	37	8	113353715	113353715	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113353715C>A	uc003ynu.2	-	42	6802	c.6643G>T	c.(6643-6645)GTA>TTA	p.V2215L	CSMD3_uc003yns.2_Missense_Mutation_p.V1417L|CSMD3_uc003ynt.2_Missense_Mutation_p.V2175L|CSMD3_uc011lhx.1_Missense_Mutation_p.V2111L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2215	Extracellular (Potential).|CUB 12.					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						CCTTGGTATACAATATGAAAC	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	81	---	---	---	---	PASS
TNFRSF11B	4982	broad.mit.edu	37	8	119936778	119936778	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:119936778G>A	uc003yon.3	-	5	1364	c.1041C>T	c.(1039-1041)CAC>CAT	p.H347H		NM_002546	NP_002537	O00300	TR11B_HUMAN	osteoprotegerin precursor	347	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			central_nervous_system(2)	2	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GCTTTAGTGCGTGCATTAGGC	0.443													41	414	---	---	---	---	PASS
TAF2	6873	broad.mit.edu	37	8	120744199	120744199	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120744199C>A	uc003you.2	-	26	3835	c.3565G>T	c.(3565-3567)GGC>TGC	p.G1189C		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	TBP-associated factor 2	1189					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATAGACCTGCCACTGGCAGGG	0.423													97	85	---	---	---	---	PASS
ATAD2	29028	broad.mit.edu	37	8	124408531	124408531	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124408531C>A	uc003yqh.3	-	1	175	c.67G>T	c.(67-69)GAC>TAC	p.D23Y	ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Missense_Mutation_p.D23Y	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	23					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)			CTGGACAGGTCCAAGGAGCCC	0.687													14	33	---	---	---	---	PASS
KLHL38	340359	broad.mit.edu	37	8	124659171	124659171	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124659171C>A	uc003yqs.1	-	2	1458	c.1434G>T	c.(1432-1434)GGG>GGT	p.G478G		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	kelch-like 38	478	Kelch 4.										0						CAATCCGCTCCCCAAGCACCA	0.478													133	184	---	---	---	---	PASS
ADCY8	114	broad.mit.edu	37	8	131955658	131955658	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131955658G>T	uc003ytd.3	-	4	1548	c.1292C>A	c.(1291-1293)TCT>TAT	p.S431Y	ADCY8_uc010mds.2_Missense_Mutation_p.S431Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	431	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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCCTGAGCAGACAAGGTCGT	0.463										HNSCC(32;0.087)			7	72	---	---	---	---	PASS
ADCY8	114	broad.mit.edu	37	8	132002665	132002665	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:132002665G>T	uc003ytd.3	-	2	1340	c.1084C>A	c.(1084-1086)CGC>AGC	p.R362S	ADCY8_uc010mds.2_Missense_Mutation_p.R362S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	362	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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCTCCAGGCGCAGCCTGGCC	0.502										HNSCC(32;0.087)			51	225	---	---	---	---	PASS
KCNQ3	3786	broad.mit.edu	37	8	133182664	133182664	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133182664C>A	uc003ytj.2	-	8	1377	c.1152G>T	c.(1150-1152)AGG>AGT	p.R384S	KCNQ3_uc010mdt.2_Missense_Mutation_p.R384S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	384					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TAGCATAATACCTCCAGGCAG	0.502													17	74	---	---	---	---	PASS
TG	7038	broad.mit.edu	37	8	133961037	133961037	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133961037G>T	uc003ytw.2	+	27	5291	c.5250G>T	c.(5248-5250)GGG>GGT	p.G1750G	TG_uc010mdw.2_Silent_p.G509G|TG_uc011ljb.1_Silent_p.G119G	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1750	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCATCTGTGGGTTGCTGAGCT	0.512													52	245	---	---	---	---	PASS
FAM135B	51059	broad.mit.edu	37	8	139144863	139144863	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139144863C>T	uc003yuy.2	-	20	4365	c.4194G>A	c.(4192-4194)TTG>TTA	p.L1398L	FAM135B_uc003yux.2_Silent_p.L1299L|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1398										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTCCTGCCACCAAGAAAAACT	0.527										HNSCC(54;0.14)			15	271	---	---	---	---	PASS
TRAPPC9	83696	broad.mit.edu	37	8	141034035	141034035	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141034035T>A	uc003yvj.2	-	18	2832	c.2698A>T	c.(2698-2700)AGT>TGT	p.S900C	TRAPPC9_uc003yvh.2_Missense_Mutation_p.S998C|TRAPPC9_uc010mel.1_Missense_Mutation_p.S321C|TRAPPC9_uc003yvi.1_Missense_Mutation_p.S891C	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	900					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						GACATTTACCTGGTTGCTGGG	0.517													32	149	---	---	---	---	PASS
EIF2C2	27161	broad.mit.edu	37	8	141582932	141582932	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141582932G>A	uc003yvn.2	-	3	355	c.315C>T	c.(313-315)CCC>CCT	p.P105P	EIF2C2_uc010men.2_Silent_p.P28P|EIF2C2_uc010meo.2_Silent_p.P105P	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	105					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)			CAATCGGAAGGGGCATGGCTG	0.507													45	69	---	---	---	---	PASS
BAI1	575	broad.mit.edu	37	8	143559664	143559664	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143559664G>A	uc003ywm.2	+	6	1687	c.1504G>A	c.(1504-1506)GCG>ACG	p.A502T		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	502	Extracellular (Potential).|TSP type-1 4.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTACGGGGGTGCGGAGTGCCA	0.682													10	9	---	---	---	---	PASS
BAI1	575	broad.mit.edu	37	8	143572166	143572166	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143572166G>A	uc003ywm.2	+	16	2848	c.2665G>A	c.(2665-2667)GAG>AAG	p.E889K		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	889	Extracellular (Potential).|GPS.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTGTGGGATGAGACGGATGT	0.642													3	4	---	---	---	---	PASS
ARC	23237	broad.mit.edu	37	8	143695373	143695373	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143695373C>A	uc003ywn.1	-	1	461	c.260G>T	c.(259-261)TGG>TTG	p.W87L		NM_015193	NP_056008	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated	87					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)	1	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGACTTCTTCCAGCGCTGCGA	0.662													5	20	---	---	---	---	PASS
CYP11B1	1584	broad.mit.edu	37	8	143960516	143960516	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143960516G>T	uc003yxi.2	-	2	334	c.327C>A	c.(325-327)CAC>CAA	p.H109Q	CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.H109Q|CYP11B1_uc010mey.2_Missense_Mutation_p.H154Q	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	109					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.H109N(1)		ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGCTCATCCTGTGGGGATGCA	0.612									Familial_Hyperaldosteronism_type_I				14	67	---	---	---	---	PASS
LY6H	4062	broad.mit.edu	37	8	144240339	144240339	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144240339G>T	uc011lka.1	-	3	234	c.68C>A	c.(67-69)GCT>GAT	p.A23D	LY6H_uc011lkb.1_Missense_Mutation_p.A44D|LY6H_uc003yxt.2_Missense_Mutation_p.A61D|LY6H_uc011lkc.1_Missense_Mutation_p.A44D	NM_002347	NP_002338	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H isoform a	23					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane					0	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CAGGCCATGAGCTGGGCAGGG	0.677													20	37	---	---	---	---	PASS
GSDMD	79792	broad.mit.edu	37	8	144644650	144644650	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144644650G>T	uc010mfe.2	+	13	1874	c.1171G>T	c.(1171-1173)GAG>TAG	p.E391*	GSDMD_uc003yyf.2_Nonsense_Mutation_p.E439*|GSDMD_uc003yyg.2_Nonsense_Mutation_p.E391*|GSDMD_uc003yyh.2_Nonsense_Mutation_p.E322*	NM_024736	NP_079012	P57764	GSDMD_HUMAN	gasdermin D	391				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).							0						GCTGCTGGCGGAGGCGCTGGA	0.647													3	20	---	---	---	---	PASS
EPPK1	83481	broad.mit.edu	37	8	144940678	144940678	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144940678G>A	uc003zaa.1	-	2	14767	c.14754C>T	c.(14752-14754)GCC>GCT	p.A4918A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	4918	Plectin 61.					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)			CCTTCCACATGGCCTGGTAGA	0.706													4	74	---	---	---	---	PASS
DMRT2	10655	broad.mit.edu	37	9	1056414	1056414	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:1056414C>A	uc003zha.2	+	4	1027	c.827C>A	c.(826-828)CCT>CAT	p.P276H	DMRT2_uc003zgx.3_Missense_Mutation_p.P43H|DMRT2_uc010mgz.2_Missense_Mutation_p.P43H|DMRT2_uc003zgy.3_Missense_Mutation_p.P120H|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P276H	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor	276					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity				0		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CGCATGGTGCCTGGACCTGAC	0.468													92	64	---	---	---	---	PASS
RFX3	5991	broad.mit.edu	37	9	3277416	3277416	+	Silent	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3277416T>G	uc003zhr.2	-	9	1209	c.897A>C	c.(895-897)ACA>ACC	p.T299T	RFX3_uc010mhd.2_Silent_p.T299T|RFX3_uc003zhs.1_Silent_p.T299T|RFX3_uc003zht.1_Silent_p.T299T|RFX3_uc010mhe.1_Silent_p.T274T	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	299					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GACCACTTCCTGTGAAACCAT	0.368													119	60	---	---	---	---	PASS
TPD52L3	89882	broad.mit.edu	37	9	6329011	6329011	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6329011G>T	uc003zjw.2	+	1	637	c.416G>T	c.(415-417)TGG>TTG	p.W139L	TPD52L3_uc003zjv.2_Intron|TPD52L3_uc003zjx.1_Intron	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	protein kinase NYD-SP25 isoform 1	139							protein binding				0		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAAAGAGCTTGGCCCTGACTG	0.547													50	30	---	---	---	---	PASS
KDM4C	23081	broad.mit.edu	37	9	7011847	7011847	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:7011847G>T	uc003zkh.2	+	13	2516	c.1936G>T	c.(1936-1938)GCC>TCC	p.A646S	KDM4C_uc010mhu.2_Missense_Mutation_p.A668S|KDM4C_uc011lmi.1_Missense_Mutation_p.A646S|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.A646S|KDM4C_uc011lmk.1_Missense_Mutation_p.A391S|KDM4C_uc011lml.1_Missense_Mutation_p.A333S	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	jumonji domain containing 2C isoform 1	646					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1						GCCACACTGTGCCATCTGCAC	0.517													32	30	---	---	---	---	PASS
PTPRD	5789	broad.mit.edu	37	9	8497241	8497241	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8497241C>A	uc003zkk.2	-	25	3060	c.2349_splice	c.e25+1	p.H783_splice	PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Splice_Site_p.H770_splice|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						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)		AAATTACTCACATGTTCAGTA	0.333										TSP Lung(15;0.13)			21	21	---	---	---	---	PASS
NFIB	4781	broad.mit.edu	37	9	14307058	14307058	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14307058G>T	uc003zle.2	-	2	927	c.492C>A	c.(490-492)GTC>GTA	p.V164V	NFIB_uc003zlf.2_Silent_p.V164V|NFIB_uc011lmo.1_Silent_p.V164V	NM_005596	NP_005587	O00712	NFIB_HUMAN	nuclear factor I/B	164	CTF/NF-I.				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity				0				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GATGTGGCTGGACACAAAGTG	0.458			T	MYB|HGMA2	adenoid cystic carcinoma|lipoma								90	50	---	---	---	---	PASS
C9orf93	203238	broad.mit.edu	37	9	15848936	15848936	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15848936G>T	uc003zmd.2	+	23	3774	c.3459G>T	c.(3457-3459)ACG>ACT	p.T1153T	C9orf93_uc003zme.2_Silent_p.T1068T|C9orf93_uc011lmu.1_Silent_p.T1161T|C9orf93_uc003zmf.1_Silent_p.T461T	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	1153											0				GBM - Glioblastoma multiforme(50;4.84e-07)		TAGAAAATACGCTTCACAAGG	0.294													22	20	---	---	---	---	PASS
CNTLN	54875	broad.mit.edu	37	9	17487026	17487026	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:17487026G>T	uc003zmz.2	+	25	4104	c.4078G>T	c.(4078-4080)GAA>TAA	p.E1360*	CNTLN_uc003zmy.2_Nonsense_Mutation_p.E1361*|CNTLN_uc010mio.2_Nonsense_Mutation_p.E1040*	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	1361						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AAATGACAAGGAATGGATGTT	0.274													44	44	---	---	---	---	PASS
FAM154A	158297	broad.mit.edu	37	9	18950896	18950896	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:18950896A>G	uc003zni.1	-	2	356	c.78T>C	c.(76-78)GAT>GAC	p.D26D	FAM154A_uc010mip.1_5'UTR	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	hypothetical protein LOC158297	26										pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.53e-16)		TCTCTGTTTTATCATAAATCT	0.443													113	71	---	---	---	---	PASS
TAF1L	138474	broad.mit.edu	37	9	32631522	32631522	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32631522C>A	uc003zrg.1	-	1	4146	c.4056G>T	c.(4054-4056)GTG>GTT	p.V1352V	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1352					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)		GAACCTCATGCACATTCTCAA	0.408													228	133	---	---	---	---	PASS
DNAI1	27019	broad.mit.edu	37	9	34493299	34493299	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34493299G>T	uc003zum.2	+	9	982	c.789G>T	c.(787-789)ATG>ATT	p.M263I		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	263					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AGATGGCCATGAGGAAGCTGA	0.478									Kartagener_syndrome				84	46	---	---	---	---	PASS
PIGO	84720	broad.mit.edu	37	9	35091903	35091903	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35091903C>A	uc003zwd.2	-	7	2377	c.1981G>T	c.(1981-1983)GTG>TTG	p.V661L	PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.V224L	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	661					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)			CGACCACCCACCATGGATGCC	0.557													54	32	---	---	---	---	PASS
TRPM3	80036	broad.mit.edu	37	9	73235224	73235224	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73235224C>G	uc004aid.2	-	15	2105	c.1861G>C	c.(1861-1863)GAC>CAC	p.D621H	TRPM3_uc004ahu.2_Missense_Mutation_p.D451H|TRPM3_uc004ahv.2_Missense_Mutation_p.D423H|TRPM3_uc004ahw.2_Missense_Mutation_p.D493H|TRPM3_uc004ahx.2_Missense_Mutation_p.D480H|TRPM3_uc004ahy.2_Missense_Mutation_p.D483H|TRPM3_uc004ahz.2_Missense_Mutation_p.D470H|TRPM3_uc004aia.2_Missense_Mutation_p.D468H|TRPM3_uc004aib.2_Missense_Mutation_p.D458H|TRPM3_uc004aic.2_Missense_Mutation_p.D621H	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	646	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AAGTCAATGTCCACCTCTTCT	0.468													56	195	---	---	---	---	PASS
TRPM3	80036	broad.mit.edu	37	9	73426110	73426110	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73426110C>A	uc004aid.2	-						TRPM3_uc004ahu.2_Intron|TRPM3_uc004ahv.2_Intron|TRPM3_uc004ahw.2_Missense_Mutation_p.G189C|TRPM3_uc004ahx.2_Intron|TRPM3_uc004ahy.2_Missense_Mutation_p.G189C|TRPM3_uc004ahz.2_Intron|TRPM3_uc004aia.2_Intron|TRPM3_uc004aib.2_Intron|TRPM3_uc004aic.2_Intron|TRPM3_uc010mor.2_Intron|TRPM3_uc004aie.2_Intron|TRPM3_uc004aif.2_Missense_Mutation_p.G189C|TRPM3_uc004aig.2_Intron|uc004aih.1_5'Flank|MIR204_hsa-mir-204|MI0000284_5'Flank	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,							integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						TGGCAACTACCCCAAAATGAA	0.353													14	27	---	---	---	---	PASS
GDA	9615	broad.mit.edu	37	9	74828854	74828854	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74828854C>A	uc004aiq.2	+	5	708	c.525C>A	c.(523-525)GAC>GAA	p.D175E	GDA_uc011lse.1_Missense_Mutation_p.D101E|GDA_uc011lsf.1_Missense_Mutation_p.D101E|GDA_uc004air.2_Missense_Mutation_p.D175E|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.D133E|GDA_uc004ait.1_Missense_Mutation_p.D101E	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	175					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ATTTGAATGACACTTTTCCAG	0.388													18	60	---	---	---	---	PASS
ZFAND5	7763	broad.mit.edu	37	9	74970881	74970881	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74970881A>T	uc004aiv.2	-	6	908	c.630T>A	c.(628-630)ATT>ATA	p.I210I	ZFAND5_uc010mox.1_Silent_p.I107I|ZFAND5_uc010moy.1_Silent_p.I210I|ZFAND5_uc004aix.2_Silent_p.I210I|ZFAND5_uc004aiw.2_Silent_p.I210I|ZFAND5_uc004aiy.2_Silent_p.I210I	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	210							DNA binding|zinc ion binding				0						ATATTCTCTGAATTTTTTCAG	0.343													15	58	---	---	---	---	PASS
TRPM6	140803	broad.mit.edu	37	9	77442862	77442862	+	Missense_Mutation	SNP	C	A	A	rs139476357		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77442862C>A	uc004ajl.1	-	7	911	c.673G>T	c.(673-675)GTG>TTG	p.V225L	TRPM6_uc004ajk.1_Missense_Mutation_p.V220L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.V225L|TRPM6_uc010mpd.1_Missense_Mutation_p.V225L|TRPM6_uc010mpe.1_Missense_Mutation_p.V225L|TRPM6_uc004ajn.1_Missense_Mutation_p.V225L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	225	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						TACAGGCACACCACCTGAGAG	0.532													12	46	---	---	---	---	PASS
C9orf40	55071	broad.mit.edu	37	9	77563085	77563085	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77563085T>A	uc004ajo.3	-	2	739	c.464A>T	c.(463-465)TAC>TTC	p.Y155F		NM_017998	NP_060468	Q8IXQ3	CI040_HUMAN	hypothetical protein LOC55071	155											0						ATTCCTCCAGTACTGGAAGGT	0.388													27	87	---	---	---	---	PASS
PRUNE2	158471	broad.mit.edu	37	9	79320494	79320494	+	Silent	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79320494T>G	uc010mpk.2	-	8	6820	c.6696A>C	c.(6694-6696)GCA>GCC	p.A2232A	PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2232					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						AAATGCTAGTTGCCACATTTT	0.443													20	59	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	9	82006448	82006448	+	IGR	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006448G>C								None (None upstream) : TLE4 (180430 downstream)																							CACACACAGGGTCACGCCGTT	0.652													8	32	---	---	---	---	PASS
TLE4	7091	broad.mit.edu	37	9	82323695	82323695	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82323695A>T	uc004ald.2	+	14	2181	c.1332A>T	c.(1330-1332)TCA>TCT	p.S444S	TLE4_uc004alc.2_Silent_p.S419S|TLE4_uc010mpr.2_Silent_p.S298S|TLE4_uc004ale.2_Silent_p.S56S|TLE4_uc011lsq.1_Silent_p.S387S|TLE4_uc010mps.2_Silent_p.S343S|TLE4_uc004alf.2_Silent_p.S358S	NM_007005	NP_008936	O60756	BCE1_HUMAN	transducin-like enhancer protein 4	Error:Variant_position_missing_in_O60756_after_alignment										lung(2)|ovary(1)|breast(1)|skin(1)	5						ATGGGAGATCACCAGTGGTGC	0.363													6	14	---	---	---	---	PASS
FLJ46321	389763	broad.mit.edu	37	9	84608354	84608354	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84608354C>A	uc004amn.2	+	4	3016	c.2969C>A	c.(2968-2970)TCC>TAC	p.S990Y		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	990						integral to membrane					0						CACCCTGTCTCCTCACCTGTC	0.502													66	184	---	---	---	---	PASS
KIF27	55582	broad.mit.edu	37	9	86503502	86503502	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86503502C>A	uc004ana.2	-	8	2129	c.1985G>T	c.(1984-1986)AGA>ATA	p.R662I	KIF27_uc010mpw.2_Missense_Mutation_p.R662I|KIF27_uc010mpx.2_Missense_Mutation_p.R662I	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	662					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						TGAACGACTTCTACATCTTAA	0.338													16	46	---	---	---	---	PASS
SLC28A3	64078	broad.mit.edu	37	9	86893173	86893173	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86893173G>A	uc010mpz.2	-	18	2161	c.2036C>T	c.(2035-2037)CCA>CTA	p.P679L	SLC28A3_uc011lsy.1_Missense_Mutation_p.P610L|SLC28A3_uc004anu.1_Missense_Mutation_p.P679L	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN	concentrative Na+-nucleoside cotransporter	679	Extracellular (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						AAAGGTCGATGGATTCAACAA	0.463													14	37	---	---	---	---	PASS
NXNL2	158046	broad.mit.edu	37	9	91150625	91150625	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:91150625G>C	uc011ltj.1	+	1	610	c.276G>C	c.(274-276)GCG>GCC	p.A92A	NXNL2_uc004aqa.2_Silent_p.A92A	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2 isoform 1	92	Thioredoxin.										0						CCTGGCTGGCGCTGCCCTTCC	0.622													5	24	---	---	---	---	PASS
ROR2	4920	broad.mit.edu	37	9	94495406	94495406	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94495406C>A	uc004arj.1	-	6	1134	c.935G>T	c.(934-936)CGC>CTC	p.R312L	ROR2_uc004ari.1_Missense_Mutation_p.R172L|ROR2_uc004ark.2_Missense_Mutation_p.R312L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	312	Extracellular (Potential).				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						GCACTCACAGCGGCCCAGCCT	0.687													3	4	---	---	---	---	PASS
CENPP	401541	broad.mit.edu	37	9	95099822	95099822	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95099822G>T	uc004arz.2	+	3	830	c.290_splice	c.e3-1	p.S97_splice	CENPP_uc010mqx.2_Splice_Site|CENPP_uc004ary.1_Splice_Site_p.S97_splice	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	centromere protein P						CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				ovary(2)	2						CTGCTTTACAGGTATTAGAAA	0.289													41	122	---	---	---	---	PASS
HSD17B3	3293	broad.mit.edu	37	9	99013696	99013696	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99013696C>T	uc004awa.1	-						HSD17B3_uc010msc.1_Intron	NM_000197	NP_000188	P37058	DHB3_HUMAN	estradiol 17 beta-dehydrogenase 3						androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity				0		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GAGCACAAGTCTACCTGGATT	0.488													39	49	---	---	---	---	PASS
CDC14B	8555	broad.mit.edu	37	9	99285911	99285911	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99285911C>T	uc004awj.2	-	10	1495	c.1043G>A	c.(1042-1044)AGA>AAA	p.R348K	CDC14B_uc004awk.2_Missense_Mutation_p.R348K|CDC14B_uc004awl.2_RNA|CDC14B_uc004awi.2_Missense_Mutation_p.R311K	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2	348	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				CGAGCCAGGTCTGCAGATCCT	0.542													26	109	---	---	---	---	PASS
CDC14B	8555	broad.mit.edu	37	9	99314069	99314069	+	Intron	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99314069T>C	uc004awj.2	-						CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_Intron|CDC14B_uc004awi.2_Intron	NM_033331	NP_201588	O60729	CC14B_HUMAN	CDC14 homolog B isoform 2						activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				ACATCATTCTTATATTTACCT	0.318													53	84	---	---	---	---	PASS
HEMGN	55363	broad.mit.edu	37	9	100692380	100692380	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100692380G>T	uc004axy.2	-	3	1405	c.1297C>A	c.(1297-1299)CCC>ACC	p.P433T	HEMGN_uc004axz.2_Missense_Mutation_p.P433T	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	433					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TGGCCTTGGGGCCCACCTGTT	0.463													71	279	---	---	---	---	PASS
COL15A1	1306	broad.mit.edu	37	9	101747923	101747923	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101747923A>T	uc004azb.1	+	3	383	c.177A>T	c.(175-177)ACA>ACT	p.T59T	COL15A1_uc004aza.2_Silent_p.T59T	NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	59	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				CCTTTGTCACAGGCTATGGTG	0.622													21	24	---	---	---	---	PASS
COL15A1	1306	broad.mit.edu	37	9	101777769	101777769	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101777769A>T	uc004azb.1	+	10	1630	c.1424A>T	c.(1423-1425)GAT>GTT	p.D475V		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	475	3.|Nonhelical region 1 (NC1).|4 X tandem repeats.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				ACTTTTGAGGATGAGGAAGCC	0.547													28	30	---	---	---	---	PASS
COL15A1	1306	broad.mit.edu	37	9	101829241	101829241	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101829241T>A	uc004azb.1	+	40	3935	c.3729T>A	c.(3727-3729)GCT>GCA	p.A1243A		NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	1243	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				AGGCCAGAGCTGCAGGACTGT	0.473													65	83	---	---	---	---	PASS
NR4A3	8013	broad.mit.edu	37	9	102609735	102609735	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:102609735G>C	uc004baf.1	+	7	2200	c.1471G>C	c.(1471-1473)GAT>CAT	p.D491H	NR4A3_uc004bag.1_Missense_Mutation_p.D491H|NR4A3_uc004bai.2_Missense_Mutation_p.D502H	NM_006981	NP_008912	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	491					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		EWSR1/NR4A3(140)|TAF15/NR4A3(33)	bone(173)	173		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CACTGCTGAAGATAAGTTTGT	0.428			T	EWSR1	extraskeletal myxoid chondrosarcoma								68	122	---	---	---	---	PASS
GRIN3A	116443	broad.mit.edu	37	9	104432717	104432717	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104432717G>A	uc004bbp.1	-	3	2578	c.1977C>T	c.(1975-1977)ACC>ACT	p.T659T	GRIN3A_uc004bbq.1_Silent_p.T659T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	659	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.T659N(1)		ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGTATCTCGGGTCCTCACTA	0.527													58	74	---	---	---	---	PASS
CYLC2	1539	broad.mit.edu	37	9	105767109	105767109	+	Missense_Mutation	SNP	G	T	T	rs143843968		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:105767109G>T	uc004bbs.2	+	4	383	c.313G>T	c.(313-315)GTC>TTC	p.V105F		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	cylicin 2	105	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			skin(1)	1		all_hematologic(171;0.125)				AACTCGTACTGTCGAGGTGGA	0.363													34	47	---	---	---	---	PASS
OR13F1	138805	broad.mit.edu	37	9	107266977	107266977	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107266977C>A	uc011lvm.1	+	1	434	c.434C>A	c.(433-435)GCA>GAA	p.A145E		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3						GTGCAGATTGCAGCTGGCTCC	0.507													44	51	---	---	---	---	PASS
ABCA1	19	broad.mit.edu	37	9	107576438	107576438	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107576438C>A	uc004bcl.2	-	27	4175	c.3862G>T	c.(3862-3864)GAT>TAT	p.D1288Y		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	1288					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAGCATCATCTTCAGTGAAC	0.488													19	92	---	---	---	---	PASS
ABCA1	19	broad.mit.edu	37	9	107618158	107618158	+	Intron	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107618158G>C	uc004bcl.2	-							NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATACCCTTGGCTGGAAACAG	0.378													24	35	---	---	---	---	PASS
C9orf4	23732	broad.mit.edu	37	9	111899755	111899755	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:111899755G>T	uc004bdw.1	-	5	1015	c.1015C>A	c.(1015-1017)CTA>ATA	p.L339I		NM_014334	NP_055149	Q9P0K9	CI004_HUMAN	hypothetical protein LOC23732	339	Helical; (Potential).					integral to membrane					0						CCCATCAATAGGTAGAAGGTC	0.373													29	130	---	---	---	---	PASS
SVEP1	79987	broad.mit.edu	37	9	113170526	113170526	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113170526C>T	uc010mtz.2	-	38	7691	c.7354G>A	c.(7354-7356)GAT>AAT	p.D2452N	SVEP1_uc010mty.2_Missense_Mutation_p.D378N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	2452	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CCTTGCACATCAATGATTCCA	0.502													26	54	---	---	---	---	PASS
SVEP1	79987	broad.mit.edu	37	9	113192679	113192679	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113192679C>A	uc010mtz.2	-	33	5742	c.5405G>T	c.(5404-5406)GGT>GTT	p.G1802V	SVEP1_uc010mty.2_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1802	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATAAATCTCACCTGAGGAGTG	0.428													15	32	---	---	---	---	PASS
SVEP1	79987	broad.mit.edu	37	9	113194802	113194802	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113194802C>A	uc010mtz.2	-	31	5510	c.5173G>T	c.(5173-5175)GAC>TAC	p.D1725Y		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1725	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						ATCCTTGAGTCACCCAATAGA	0.463													61	97	---	---	---	---	PASS
ZNF483	158399	broad.mit.edu	37	9	114289897	114289897	+	Nonsense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114289897G>A	uc004bff.2	+	2	446	c.222G>A	c.(220-222)TGG>TGA	p.W74*	ZNF483_uc011lwq.1_Nonsense_Mutation_p.W74*|ZNF483_uc004bfg.2_Nonsense_Mutation_p.W74*|ZNF483_uc010mud.1_Nonsense_Mutation_p.W74*	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	74	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						GTCAACTCTGGGAGCTCTGCA	0.473													43	103	---	---	---	---	PASS
SLC46A2	57864	broad.mit.edu	37	9	115652195	115652195	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115652195A>G	uc004bgk.2	-	1	999	c.767T>C	c.(766-768)CTG>CCG	p.L256P		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	256	Cytoplasmic (Potential).					integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)	1						ATCAGGATCCAGAGTGCGGTA	0.562													22	71	---	---	---	---	PASS
ZFP37	7539	broad.mit.edu	37	9	115806140	115806140	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115806140C>A	uc004bgm.1	-	4	786	c.758G>T	c.(757-759)TGC>TTC	p.C253F	ZFP37_uc011lwz.1_Missense_Mutation_p.C268F|ZFP37_uc011lxa.1_Missense_Mutation_p.C254F	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	253						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						ACTATGACAGCATAATTTGTC	0.363													103	215	---	---	---	---	PASS
ZNF618	114991	broad.mit.edu	37	9	116770842	116770842	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116770842G>T	uc004bid.2	+						ZNF618_uc004bib.1_Intron|ZNF618_uc004bic.2_Intron|ZNF618_uc011lxi.1_Intron|ZNF618_uc011lxj.1_Intron	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CAAGTATGCGGGATTCCCTCT	0.632													7	23	---	---	---	---	PASS
DFNB31	25861	broad.mit.edu	37	9	117228590	117228590	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117228590G>A	uc004biz.3	-	3	1569	c.920C>T	c.(919-921)ACT>ATT	p.T307I	DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.T307I	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	307	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6						GTCCACGCCAGTGATGTAAAT	0.617													65	83	---	---	---	---	PASS
ASTN2	23245	broad.mit.edu	37	9	119414084	119414084	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119414084C>A	uc004bjs.1	-						ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjt.1_Intron|ASTN2_uc004bjp.1_Intron|ASTN2_uc004bjq.1_Intron|ASTN2_uc011lxr.1_Intron|ASTN2_uc011lxs.1_Intron|ASTN2_uc011lxt.1_Intron|ASTN2_uc004bjv.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c							integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TGGAGAGGCACAAGACAGGAA	0.483													6	65	---	---	---	---	PASS
ASTN2	23245	broad.mit.edu	37	9	120053605	120053605	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120053605C>A	uc004bjs.1	-	2	731	c.630G>T	c.(628-630)ATG>ATT	p.M210I	ASTN2_uc004bjr.1_Missense_Mutation_p.M210I|ASTN2_uc004bjt.1_Missense_Mutation_p.M210I	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	210	Helical; (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						CATCACTCACCATCACAGAAA	0.622													11	46	---	---	---	---	PASS
PTGS1	5742	broad.mit.edu	37	9	125148949	125148949	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125148949A>T	uc004bmg.1	+	9	1369	c.1234A>T	c.(1234-1236)ATG>TTG	p.M412L	PTGS1_uc011lys.1_Intron|PTGS1_uc010mwb.1_Intron|PTGS1_uc004bmf.1_Intron|PTGS1_uc004bmh.1_Missense_Mutation_p.M303L|PTGS1_uc011lyt.1_Missense_Mutation_p.M303L	NM_000962	NP_000953	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 isoform 1	412					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|skin(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CAACACCTCCATGTTGGTGGA	0.493													34	133	---	---	---	---	PASS
OR1J2	26740	broad.mit.edu	37	9	125273890	125273890	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125273890G>T	uc004bmj.1	+	4	1665	c.810G>T	c.(808-810)AAG>AAT	p.K270N	OR1J2_uc011lyv.1_Missense_Mutation_p.K270N	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						CTATTGACAAGGATGTCATTG	0.478													59	246	---	---	---	---	PASS
OR1L8	138881	broad.mit.edu	37	9	125330086	125330086	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125330086G>T	uc004bmp.1	-	1	671	c.671C>A	c.(670-672)ACT>AAT	p.T224N		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	224	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3						GAGAACTGTAGTGAGGATTCG	0.423													11	40	---	---	---	---	PASS
CRB2	286204	broad.mit.edu	37	9	126125141	126125141	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126125141C>A	uc004bnx.1	+						CRB2_uc004bnw.1_Intron	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor							extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						CTTCTTTCTACAGGGACGGTG	0.627													35	146	---	---	---	---	PASS
COQ4	51117	broad.mit.edu	37	9	131087483	131087483	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131087483G>A	uc004bur.3	+	3	611	c.264G>A	c.(262-264)CAG>CAA	p.Q88Q	TRUB2_uc004buq.1_5'Flank|COQ4_uc011max.1_Silent_p.Q88Q|COQ4_uc004bus.2_Silent_p.Q64Q|COQ4_uc010mxy.2_Silent_p.Q64Q	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog precursor	88					ubiquinone biosynthetic process	mitochondrial inner membrane					0						TCAGGGACCAGATGAGGAGGG	0.557													12	57	---	---	---	---	PASS
COQ4	51117	broad.mit.edu	37	9	131094561	131094561	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131094561G>T	uc004bur.3	+	5	879	c.532G>T	c.(532-534)GGG>TGG	p.G178W	COQ4_uc004bus.2_Missense_Mutation_p.G154W|COQ4_uc010mxy.2_Missense_Mutation_p.G154W	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4 homolog precursor	178					ubiquinone biosynthetic process	mitochondrial inner membrane					0						CAACATCCTGGGTGAGTGCCC	0.622													13	28	---	---	---	---	PASS
PPAPDC3	84814	broad.mit.edu	37	9	134183627	134183627	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134183627G>T	uc004cal.2	+	2	1073	c.769G>T	c.(769-771)GTC>TTC	p.V257F		NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain	257	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(1)	1	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		GGTGGAGCTGGTCTGGATGCC	0.667													3	15	---	---	---	---	PASS
POMT1	10585	broad.mit.edu	37	9	134396836	134396836	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134396836G>A	uc004cav.2	+	18	2070	c.1868G>A	c.(1867-1869)AGA>AAA	p.R623K	POMT1_uc004cax.2_Missense_Mutation_p.R601K|POMT1_uc011mcj.1_Missense_Mutation_p.R341K|POMT1_uc004cau.2_Missense_Mutation_p.R601K|POMT1_uc004caw.2_Missense_Mutation_p.R547K|POMT1_uc011mck.1_Missense_Mutation_p.R484K|POMT1_uc011mcl.1_Missense_Mutation_p.R449K|POMT1_uc011mcm.1_Missense_Mutation_p.R571K	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1 isoform a	623					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			upper_aerodigestive_tract(1)	1		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		CGACGGCGAAGAAATGTCCAT	0.413													14	83	---	---	---	---	PASS
GFI1B	8328	broad.mit.edu	37	9	135862794	135862794	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135862794G>T	uc004ccg.2	+	3	377	c.226G>T	c.(226-228)GCC>TCC	p.A76S	GFI1B_uc010mzy.2_Missense_Mutation_p.A76S	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription	76					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGCCAGGATGGCCCCGGCACC	0.627													27	48	---	---	---	---	PASS
GTF3C5	9328	broad.mit.edu	37	9	135906463	135906463	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135906463G>A	uc004cci.3	+	1	402	c.65G>A	c.(64-66)CGA>CAA	p.R22Q	GTF3C5_uc010mzz.2_5'UTR|GTF3C5_uc004ccj.3_Missense_Mutation_p.R22Q	NM_012087	NP_036219	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5	22						transcription factor TFIIIC complex	DNA binding|protein binding				0				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGGCGGGAGCGACGCATGGTG	0.721													6	15	---	---	---	---	PASS
ADAMTS13	11093	broad.mit.edu	37	9	136304491	136304491	+	Nonsense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136304491T>A	uc004cdv.3	+	15	2154	c.1710T>A	c.(1708-1710)TAT>TAA	p.Y570*	ADAMTS13_uc004cdp.3_5'UTR|ADAMTS13_uc004cdt.1_Nonsense_Mutation_p.Y570*|ADAMTS13_uc004cdu.1_Nonsense_Mutation_p.Y539*|ADAMTS13_uc004cdw.3_Nonsense_Mutation_p.Y570*|ADAMTS13_uc004cdx.3_Nonsense_Mutation_p.Y539*|ADAMTS13_uc004cdy.1_RNA|ADAMTS13_uc004cdz.3_Nonsense_Mutation_p.Y240*|ADAMTS13_uc004cds.1_Nonsense_Mutation_p.Y95*|ADAMTS13_uc004cdr.1_RNA	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1	570	Spacer.				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)		TTCTAGAATATGTCACATTTC	0.488													33	152	---	---	---	---	PASS
COL5A1	1289	broad.mit.edu	37	9	137593147	137593147	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137593147G>A	uc004cfe.2	+	4	1004	c.622G>A	c.(622-624)GGC>AGC	p.G208S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	alpha 1 type V collagen preproprotein	208	TSP N-terminal.|Laminin G-like.				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)		CATCGTGTTTGGCACCCGGAT	0.557													5	34	---	---	---	---	PASS
LCN8	138307	broad.mit.edu	37	9	139651480	139651480	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139651480G>T	uc004cjb.1	-						LCN8_uc004cja.2_5'Flank|LCN8_uc004cjc.1_Intron	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	lipocalin 8						transport	extracellular region	binding			pancreas(1)	1	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GCAGCCCCCAGGCCTCTTACC	0.647													3	25	---	---	---	---	PASS
C9orf172	389813	broad.mit.edu	37	9	139741707	139741707	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139741707C>G	uc011meh.1	+	1	2841	c.2841C>G	c.(2839-2841)GGC>GGG	p.G947G	PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	947											0						GGCGCACCGGCCGCCCCTTCA	0.662													7	12	---	---	---	---	PASS
ABCA2	20	broad.mit.edu	37	9	139909925	139909925	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139909925T>C	uc011mem.1	-	23	3783	c.3635A>G	c.(3634-3636)TAT>TGT	p.Y1212C	ABCA2_uc011mel.1_Missense_Mutation_p.Y1213C|ABCA2_uc004ckl.1_Missense_Mutation_p.Y1143C|ABCA2_uc004ckm.1_Missense_Mutation_p.Y1243C|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1212	ABC transporter 1.				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)		CCCGTCGCCATAGGTGCCCTT	0.657													7	6	---	---	---	---	PASS
NDOR1	27158	broad.mit.edu	37	9	140100357	140100357	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140100357A>G	uc004clw.2	+	1	239	c.128A>G	c.(127-129)TAC>TGC	p.Y43C	TMEM203_uc004clv.2_5'Flank|NDOR1_uc004clx.2_Missense_Mutation_p.Y43C|NDOR1_uc011mes.1_Missense_Mutation_p.Y43C|NDOR1_uc004cly.2_Missense_Mutation_p.Y43C	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	43	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGGACTCCTACCCGGTGGTG	0.711													3	19	---	---	---	---	PASS
ARRDC1	92714	broad.mit.edu	37	9	140507900	140507900	+	Intron	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140507900C>G	uc004cns.2	+						ARRDC1_uc004cnt.2_Intron|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Intron|ARRDC1_uc004cnw.2_Intron|ARRDC1_uc004cnp.1_Intron|ARRDC1_uc004cnq.1_Intron|ARRDC1_uc011mfb.1_Intron|ARRDC1_uc004cnx.1_5'UTR|ARRDC1_uc004cny.2_5'Flank	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1												0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACCTCCCTCCTGTCTCTGCA	0.657													7	22	---	---	---	---	PASS
CACNA1B	774	broad.mit.edu	37	9	140846807	140846807	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140846807C>A	uc004cog.2	+	7	1193	c.1048C>A	c.(1048-1050)CTG>ATG	p.L350M		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	350	Helical; Name=S6 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATGCTCAACCTGGTGCTGGG	0.587													32	47	---	---	---	---	PASS
CACNA1B	774	broad.mit.edu	37	9	140991014	140991014	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140991014C>A	uc004cog.2	+	36	5318	c.5173C>A	c.(5173-5175)CAC>AAC	p.H1725N	CACNA1B_uc004coi.2_Missense_Mutation_p.H937N|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	1725	EF-hand.|Cytoplasmic (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGTCCTCACCACTTGGATGA	0.552													17	99	---	---	---	---	PASS
ADARB2	105	broad.mit.edu	37	10	1405316	1405316	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1405316C>A	uc009xhq.2	-	3	1358	c.984G>T	c.(982-984)CGG>CGT	p.R328R		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	328	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CGGCCTGACCCCGGGCCAGCT	0.731													4	17	---	---	---	---	PASS
ADARB2	105	broad.mit.edu	37	10	1421339	1421339	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1421339C>A	uc009xhq.2	-	2	491	c.117G>T	c.(115-117)TTG>TTT	p.L39F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	39					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGAAGGTTGACAATATGCTTA	0.428													11	52	---	---	---	---	PASS
PRKCQ	5588	broad.mit.edu	37	10	6506291	6506291	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:6506291C>A	uc001ijj.1	-	13	1504	c.1429G>T	c.(1429-1431)GAC>TAC	p.D477Y	PRKCQ_uc009xim.1_Missense_Mutation_p.D477Y|PRKCQ_uc001iji.1_Missense_Mutation_p.D510Y|PRKCQ_uc009xin.1_Missense_Mutation_p.D441Y|PRKCQ_uc010qax.1_Missense_Mutation_p.D352Y	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	477	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						CTGGAAAGGTCGAACTTGTGG	0.428													151	230	---	---	---	---	PASS
ITIH5	80760	broad.mit.edu	37	10	7608323	7608323	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7608323C>A	uc001ijq.2	-	13	2276	c.2197G>T	c.(2197-2199)GGC>TGC	p.G733C	ITIH5_uc001ijp.2_Missense_Mutation_p.G519C	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	inter-alpha trypsin inhibitor heavy chain	733					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)	4						TTCTTGTGGCCATTTGGAGGG	0.458													18	22	---	---	---	---	PASS
KIN	22944	broad.mit.edu	37	10	7805758	7805758	+	Intron	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7805758G>C	uc001ijt.2	-						KIN_uc010qaz.1_Intron|KIN_uc009xip.2_Intron|KIN_uc010qba.1_Intron	NM_012311	NP_036443	O60870	KIN17_HUMAN	HsKin17 protein						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TAATTTCCTAGAAAATAATAA	0.294													29	39	---	---	---	---	PASS
GATA3	2625	broad.mit.edu	37	10	8097818	8097818	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8097818C>A	uc001ika.2	+	2	757	c.200C>A	c.(199-201)TCG>TAG	p.S67*	FLJ45983_uc010qbe.1_5'Flank|FLJ45983_uc001ijx.1_5'Flank|FLJ45983_uc010qbf.1_5'Flank|FLJ45983_uc010qbg.1_5'Flank|FLJ45983_uc001ijy.1_5'Flank|GATA3_uc001ijz.2_Nonsense_Mutation_p.S67*	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	67					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 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 T cell differentiation|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|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|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|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						TACGGAAACTCGGTCAGGGCC	0.687			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						3	5	---	---	---	---	PASS
CDNF	441549	broad.mit.edu	37	10	14867509	14867509	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:14867509C>A	uc001inb.1	-	3	392	c.354G>T	c.(352-354)AAG>AAT	p.K118N	CDNF_uc010qbv.1_Missense_Mutation_p.K118N|CDNF_uc001inc.1_Missense_Mutation_p.K9N	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN	arginine-rich, mutated in early stage	118						extracellular region	growth factor activity				0						GGCTATCCAACTTCTTCAGCT	0.468													81	115	---	---	---	---	PASS
FAM171A1	221061	broad.mit.edu	37	10	15296871	15296871	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15296871C>A	uc001iob.2	-	4	433	c.426G>T	c.(424-426)CGG>CGT	p.R142R		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	hypothetical protein LOC221061 precursor	142	Extracellular (Potential).					integral to membrane				ovary(2)|breast(1)|skin(1)	4						GAGGCTGTGGCCGGGCACCTG	0.542													9	30	---	---	---	---	PASS
CUBN	8029	broad.mit.edu	37	10	16893320	16893320	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16893320C>A	uc001ioo.2	-	60	9629	c.9577G>T	c.(9577-9579)GTA>TTA	p.V3193L	CUBN_uc009xjq.1_RNA	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3193	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTTGTTTACAGGTGCAATT	0.373													28	99	---	---	---	---	PASS
CUBN	8029	broad.mit.edu	37	10	16930512	16930512	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16930512G>T	uc001ioo.2	-	56	8861	c.8809C>A	c.(8809-8811)CCA>ACA	p.P2937T	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.P293T	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2937	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGTTTTGGGTAATTTGGA	0.388													30	148	---	---	---	---	PASS
ST8SIA6	338596	broad.mit.edu	37	10	17362871	17362871	+	3'UTR	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17362871C>A	uc001ipd.2	-	8					ST8SIA6_uc010qce.1_RNA	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide						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						TTTTAAGATACTTTGTTTAGG	0.383													38	161	---	---	---	---	PASS
MYO3A	53904	broad.mit.edu	37	10	26446322	26446322	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26446322G>T	uc001isn.2	+	26	3237	c.2877G>T	c.(2875-2877)CAG>CAT	p.Q959H	MYO3A_uc009xko.1_Missense_Mutation_p.Q959H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	959	Myosin head-like.				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						GTGAGCGTCAGGCAAGAAAAT	0.413													56	94	---	---	---	---	PASS
APBB1IP	54518	broad.mit.edu	37	10	26830589	26830589	+	Nonsense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26830589A>T	uc001iss.2	+	11	1444	c.1123A>T	c.(1123-1125)AAA>TAA	p.K375*	APBB1IP_uc009xks.1_Nonsense_Mutation_p.K375*	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	375	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						AATGAAATATAAAGCGCCCAC	0.303													14	59	---	---	---	---	PASS
PTCHD3	374308	broad.mit.edu	37	10	27702954	27702954	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27702954G>A	uc001itu.2	-	1	344	c.226C>T	c.(226-228)CCC>TCC	p.P76S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	76					spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						GACGGCCGGGGGGGTGCATCG	0.721													10	52	---	---	---	---	PASS
MTPAP	55149	broad.mit.edu	37	10	30629143	30629143	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30629143C>A	uc001iva.3	-						MTPAP_uc001ivb.3_Intron|MTPAP_uc001ivc.2_Nonstop_Mutation_p.*189Y	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	PAP associated domain containing 1 precursor						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1						TGAGGTACACCTAAAAACTTA	0.299													12	43	---	---	---	---	PASS
C10orf10	11067	broad.mit.edu	37	10	45473174	45473174	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45473174A>G	uc001jbr.3	-	2	595	c.305T>C	c.(304-306)GTG>GCG	p.V102A	RASSF4_uc001jbo.2_Intron|RASSF4_uc001jbp.2_Intron|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_Intron	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	fasting-induced protein	102						mitochondrion					0						CAGGGGGTCCACAGTATCAGC	0.657													26	48	---	---	---	---	PASS
C10orf71	118461	broad.mit.edu	37	10	50530616	50530616	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50530616C>A	uc010qgp.1	+	3	365	c.26C>A	c.(25-27)ACA>AAA	p.T9K		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	9											0						AAGAAGTGCACAGACGCGTTC	0.532													7	17	---	---	---	---	PASS
PCDH15	65217	broad.mit.edu	37	10	55780053	55780053	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55780053C>G	uc001jju.1	-	20	3045	c.2650G>C	c.(2650-2652)GCA>CCA	p.A884P	PCDH15_uc010qhq.1_Missense_Mutation_p.A889P|PCDH15_uc010qhr.1_Missense_Mutation_p.A884P|PCDH15_uc010qhs.1_Missense_Mutation_p.A896P|PCDH15_uc010qht.1_Missense_Mutation_p.A891P|PCDH15_uc010qhu.1_Missense_Mutation_p.A884P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A884P|PCDH15_uc010qhw.1_Missense_Mutation_p.A847P|PCDH15_uc010qhx.1_Missense_Mutation_p.A813P|PCDH15_uc010qhy.1_Missense_Mutation_p.A889P|PCDH15_uc010qhz.1_Missense_Mutation_p.A884P|PCDH15_uc010qia.1_Missense_Mutation_p.A862P|PCDH15_uc010qib.1_Missense_Mutation_p.A862P|PCDH15_uc001jjw.2_Missense_Mutation_p.A884P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	884	Extracellular (Potential).|Cadherin 8.				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)				TCTGGAAATGCCTCATAATCT	0.393										HNSCC(58;0.16)			46	210	---	---	---	---	PASS
PCDH15	65217	broad.mit.edu	37	10	56287599	56287599	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:56287599C>T	uc001jju.1	-	3	525	c.130G>A	c.(130-132)GTT>ATT	p.V44I	PCDH15_uc010qhq.1_Missense_Mutation_p.V49I|PCDH15_uc010qhr.1_Missense_Mutation_p.V44I|PCDH15_uc010qhs.1_Missense_Mutation_p.V49I|PCDH15_uc010qht.1_Missense_Mutation_p.V44I|PCDH15_uc010qhu.1_Missense_Mutation_p.V44I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.V44I|PCDH15_uc010qhw.1_Missense_Mutation_p.V44I|PCDH15_uc010qhx.1_Missense_Mutation_p.V44I|PCDH15_uc010qhy.1_Missense_Mutation_p.V49I|PCDH15_uc010qhz.1_Missense_Mutation_p.V44I|PCDH15_uc010qia.1_Intron|PCDH15_uc010qib.1_Intron|PCDH15_uc001jjw.2_Missense_Mutation_p.V44I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	44	Cadherin 1.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAATAGCAACTATGGTAGCT	0.348										HNSCC(58;0.16)			25	119	---	---	---	---	PASS
ZNF365	22891	broad.mit.edu	37	10	64159503	64159503	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64159503C>T	uc001jly.3	+	5	1286	c.1224C>T	c.(1222-1224)CCC>CCT	p.P408P	ZNF365_uc001jmb.3_Intron|ZNF365_uc001jmc.2_Intron|ZNF365_uc001jlz.3_Silent_p.P393P|ZNF365_uc001jma.3_RNA	NM_014951	NP_055766	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform A	Error:Variant_position_missing_in_Q70YC4_after_alignment										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACATCAGGCCCAAAATGGCTA	0.527													25	40	---	---	---	---	PASS
EGR2	1959	broad.mit.edu	37	10	64575615	64575615	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64575615G>T	uc010qim.1	-						EGR2_uc010qin.1_Intron|EGR2_uc001jmi.2_Intron|EGR2_uc010qio.1_Intron|EGR2_uc009xph.2_Intron	NM_001136177	NP_001129649	P11161	EGR2_HUMAN	early growth response 2 protein isoform a						fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAGACACGCGGCTTACCTCCG	0.667													14	67	---	---	---	---	PASS
MYPN	84665	broad.mit.edu	37	10	69908183	69908183	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69908183C>A	uc001jnm.3	+	6	1389	c.1204C>A	c.(1204-1206)CAG>AAG	p.Q402K	MYPN_uc001jnl.1_Missense_Mutation_p.Q402K|MYPN_uc001jnn.3_Missense_Mutation_p.Q127K|MYPN_uc001jno.3_Missense_Mutation_p.Q402K|MYPN_uc001jnp.1_Missense_Mutation_p.Q402K|MYPN_uc009xps.2_Missense_Mutation_p.Q402K|MYPN_uc009xpt.2_Missense_Mutation_p.Q402K|MYPN_uc010qit.1_Missense_Mutation_p.Q108K|MYPN_uc010qiu.1_RNA	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin	402	Interaction with CARP.					nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						ACCCCAAGCCCAGCATTTGGT	0.478													25	103	---	---	---	---	PASS
TET1	80312	broad.mit.edu	37	10	70412277	70412277	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70412277G>T	uc001jok.3	+	6	4892	c.4387G>T	c.(4387-4389)GCA>TCA	p.A1463S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	1463					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						AAAAGGAAACGCAATAAGGAT	0.358													40	63	---	---	---	---	PASS
CDH23	64072	broad.mit.edu	37	10	73464784	73464784	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73464784C>A	uc001jrx.3	+	24	3227	c.2850C>A	c.(2848-2850)ACC>ACA	p.T950T	CDH23_uc001jry.2_Silent_p.T566T|CDH23_uc001jrz.2_Silent_p.T566T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	950	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						TGGTCACCACCACCGAGCTGG	0.667													38	95	---	---	---	---	PASS
MYST4	23522	broad.mit.edu	37	10	76603051	76603051	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76603051C>A	uc001jwn.1	+	3	929	c.436C>A	c.(436-438)CCA>ACA	p.P146T	MYST4_uc001jwm.1_Missense_Mutation_p.P146T|MYST4_uc001jwo.1_Missense_Mutation_p.P146T|MYST4_uc001jwp.1_Missense_Mutation_p.P146T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	146	H15.				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)					CACCAACAACCCAGCCTTTCA	0.517			T	CREBBP	AML								63	59	---	---	---	---	PASS
KCNMA1	3778	broad.mit.edu	37	10	78943265	78943265	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78943265C>T	uc001jxn.2	-	5	899	c.722G>A	c.(721-723)TGG>TAG	p.W241*	KCNMA1_uc001jxj.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Nonsense_Mutation_p.W61*|KCNMA1_uc001jxo.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxm.2_Nonsense_Mutation_p.W241*|KCNMA1_uc001jxq.2_Nonsense_Mutation_p.W241*	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	241	Helical; Name=Segment S3; (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAGCCAGAACCACAATTTATC	0.438													22	50	---	---	---	---	PASS
C10orf58	84293	broad.mit.edu	37	10	82185667	82185667	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82185667G>T	uc001kcc.3	+	4	476	c.316G>T	c.(316-318)GGC>TGC	p.G106C	C10orf58_uc001kcd.3_Missense_Mutation_p.G95C|C10orf58_uc001kce.3_Missense_Mutation_p.G106C|C10orf58_uc001kcf.3_Missense_Mutation_p.G106C	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	hypothetical protein LOC84293 precursor	106						extracellular region					0			Colorectal(32;0.229)			GGACCAGCTGGGCGTCCCCCT	0.522													34	130	---	---	---	---	PASS
SH2D4B	387694	broad.mit.edu	37	10	82369182	82369182	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82369182G>T	uc001kck.1	+	6	1291	c.861_splice	c.e6-1	p.R287_splice	SH2D4B_uc001kcl.1_Missense_Mutation_p.R239M|SH2D4B_uc001kcm.1_Missense_Mutation_p.R34M	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1												0			Colorectal(32;0.229)			CTCTTCAGCAGGACCTGGGAG	0.483													27	91	---	---	---	---	PASS
SH2D4B	387694	broad.mit.edu	37	10	82369183	82369183	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82369183G>T	uc001kck.1	+	6	1291	c.861G>T	c.(859-861)AGG>AGT	p.R287S	SH2D4B_uc001kcl.1_Missense_Mutation_p.R239S|SH2D4B_uc001kcm.1_Missense_Mutation_p.R34S	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B isoform 1	286											0			Colorectal(32;0.229)			TCTTCAGCAGGACCTGGGAGC	0.483													28	91	---	---	---	---	PASS
GRID1	2894	broad.mit.edu	37	10	88123739	88123739	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88123739T>A	uc001kdl.1	-	2	295	c.194A>T	c.(193-195)AAG>ATG	p.K65M	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	65	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	CTCGATGACCTTGATGGAGTA	0.612										Multiple Myeloma(13;0.14)			21	87	---	---	---	---	PASS
OPN4	94233	broad.mit.edu	37	10	88423458	88423458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88423458C>T	uc001kdq.2	+	9	1524	c.1297C>T	c.(1297-1299)CAG>TAG	p.Q433*	OPN4_uc001kdp.2_Nonsense_Mutation_p.Q444*|OPN4_uc010qmk.1_Nonsense_Mutation_p.Q444*|OPN4_uc009xsx.1_Nonsense_Mutation_p.Q103*	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN	opsin 4 isoform 1	433	Cytoplasmic (Potential).				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			ovary(1)	1						GGGAGCTGCCCAGCAAGCAAA	0.617													8	11	---	---	---	---	PASS
FAM22A	728118	broad.mit.edu	37	10	88988233	88988233	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88988233G>C	uc001kek.2	+	2	979	c.596G>C	c.(595-597)GGG>GCG	p.G199A	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	hypothetical protein LOC728118	199											0						AGTGGGGCCGGGGCTTCCAAC	0.662													5	91	---	---	---	---	PASS
KIF11	3832	broad.mit.edu	37	10	94381142	94381142	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94381142G>C	uc001kic.2	+	10	1437	c.1129G>C	c.(1129-1131)GAG>CAG	p.E377Q	KIF11_uc010qnq.1_Intron	NM_004523	NP_004514	P52732	KIF11_HUMAN	kinesin family member 11	377	Potential.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			skin(1)	1						TCTTGTGTAGGAGTATACGGA	0.373													47	59	---	---	---	---	PASS
PLCE1	51196	broad.mit.edu	37	10	95892039	95892039	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95892039G>T	uc001kjk.2	+	3	1949	c.1315G>T	c.(1315-1317)GGT>TGT	p.G439C	PLCE1_uc010qnx.1_Missense_Mutation_p.G439C|PLCE1_uc001kjm.2_Missense_Mutation_p.G131C	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	439					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				GATAAGCGTTGGTCCATGCTT	0.488													53	73	---	---	---	---	PASS
SORBS1	10580	broad.mit.edu	37	10	97135751	97135751	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97135751C>T	uc001kkp.2	-	17	1761	c.1716G>A	c.(1714-1716)TCG>TCA	p.S572S	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Silent_p.S174S|SORBS1_uc001kkn.2_Silent_p.S359S|SORBS1_uc001kkm.2_Silent_p.S428S|SORBS1_uc001kko.2_Silent_p.S594S|SORBS1_uc001kkq.2_Silent_p.S457S|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Silent_p.S526S|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	572					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ACTCCAATTCCGAAAAGAATT	0.378													16	99	---	---	---	---	PASS
ARHGAP19	84986	broad.mit.edu	37	10	99025847	99025847	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99025847G>A	uc001knb.2	-	2	121	c.92C>T	c.(91-93)TCT>TTT	p.S31F	ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.S22F|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.S31F|ARHGAP19_uc009xvk.2_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	31					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity				0		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TCGAAGGGAAGAATCATTGCA	0.393													53	70	---	---	---	---	PASS
ABCC2	1244	broad.mit.edu	37	10	101610352	101610352	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101610352G>T	uc001kqf.2	+							NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),							apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCTTCTATTGGCTGCAGCATA	0.552													14	11	---	---	---	---	PASS
SCD	6319	broad.mit.edu	37	10	102107291	102107291	+	Intron	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102107291G>C	uc001kqy.2	+							NM_005063	NP_005054	O00767	ACOD_HUMAN	stearoyl-CoA desaturase 1						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity				0		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AGGACGATGTGAGTTTCCCAG	0.697													10	50	---	---	---	---	PASS
SEC31B	25956	broad.mit.edu	37	10	102256950	102256950	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102256950T>C	uc001krc.1	-	17	2180	c.2078A>G	c.(2077-2079)GAG>GGG	p.E693G	SEC31B_uc010qpo.1_Missense_Mutation_p.E692G|SEC31B_uc001krd.1_Missense_Mutation_p.E230G|SEC31B_uc001krf.1_Missense_Mutation_p.E230G|SEC31B_uc001kre.1_Missense_Mutation_p.E230G|SEC31B_uc001krg.1_Missense_Mutation_p.E262G	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	693	WD 7.				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)		CACCAGCCGCTCCACACTCCC	0.607													50	47	---	---	---	---	PASS
INA	9118	broad.mit.edu	37	10	105036977	105036977	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105036977C>G	uc001kws.2	+	1	58	c.9C>G	c.(7-9)TTC>TTG	p.F3L	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.F3L	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	3	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCATGAGCTTCGGCTCGGAGC	0.627													15	25	---	---	---	---	PASS
PDCD11	22984	broad.mit.edu	37	10	105178384	105178384	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105178384G>T	uc001kwy.1	+	15	2186	c.2099G>T	c.(2098-2100)GGG>GTG	p.G700V		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	700	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGAGCGAGGGGCGTGTTGTA	0.547													20	47	---	---	---	---	PASS
OBFC1	79991	broad.mit.edu	37	10	105648830	105648830	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105648830G>A	uc001kxl.2	-	8	1024	c.949C>T	c.(949-951)CAC>TAC	p.H317Y	OBFC1_uc001kxm.2_Missense_Mutation_p.H317Y|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	317					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TACCACTTACGATTTGGTTTC	0.373													42	118	---	---	---	---	PASS
C10orf79	80217	broad.mit.edu	37	10	105971806	105971806	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105971806C>A	uc001kxw.2	-	5	810	c.694G>T	c.(694-696)GCC>TCC	p.A232S	C10orf79_uc001kxx.3_Missense_Mutation_p.A232S|C10orf79_uc001kxy.1_Missense_Mutation_p.A232S|C10orf79_uc001kxz.2_Missense_Mutation_p.A232S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	232											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		CCGGCAATGGCTGACAGTGGC	0.498													20	81	---	---	---	---	PASS
CCDC147	159686	broad.mit.edu	37	10	106121841	106121841	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106121841G>T	uc001kyh.2	+	3	486	c.352G>T	c.(352-354)GAG>TAG	p.E118*		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	118	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GAAGGCCAAGGAGACGATTCT	0.478													20	77	---	---	---	---	PASS
SORCS1	114815	broad.mit.edu	37	10	108439016	108439016	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108439016G>T	uc001kym.2	-	12	1746	c.1738C>A	c.(1738-1740)CAG>AAG	p.Q580K	SORCS1_uc001kyl.2_Missense_Mutation_p.Q580K|SORCS1_uc009xxs.2_Missense_Mutation_p.Q580K|SORCS1_uc001kyn.1_Missense_Mutation_p.Q580K|SORCS1_uc001kyo.2_Missense_Mutation_p.Q580K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	580	Lumenal (Potential).|BNR 4.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTTCTTACCTGTCTCCAGGTG	0.418													61	85	---	---	---	---	PASS
SORCS1	114815	broad.mit.edu	37	10	108589406	108589406	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108589406C>T	uc001kym.2	-	3	660	c.652G>A	c.(652-654)GAG>AAG	p.E218K	SORCS1_uc001kyl.2_Missense_Mutation_p.E218K|SORCS1_uc009xxs.2_Missense_Mutation_p.E218K|SORCS1_uc001kyn.1_Missense_Mutation_p.E218K|SORCS1_uc001kyo.2_Missense_Mutation_p.E218K	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	218	Lumenal (Potential).|BNR 1.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCAGCTTCTCATAGGTTGTT	0.363													66	116	---	---	---	---	PASS
ABLIM1	3983	broad.mit.edu	37	10	116361718	116361718	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116361718C>A	uc010qsg.1	-	2	346	c.247G>T	c.(247-249)GCC>TCC	p.A83S	ABLIM1_uc010qsh.1_Missense_Mutation_p.A23S|ABLIM1_uc010qsi.1_Missense_Mutation_p.A23S|ABLIM1_uc010qsk.1_Missense_Mutation_p.A7S|ABLIM1_uc009xyp.2_Missense_Mutation_p.A17S|ABLIM1_uc001lbz.1_Missense_Mutation_p.A6S	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	83					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TGAGGGTGGGCCACTGAAAGA	0.493													20	69	---	---	---	---	PASS
ATRNL1	26033	broad.mit.edu	37	10	117154178	117154178	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:117154178G>C	uc001lcg.2	+	20	3571	c.3185G>C	c.(3184-3186)TGC>TCC	p.C1062S	ATRNL1_uc010qsm.1_Missense_Mutation_p.C191S|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	1062	Laminin EGF-like 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GCTTGTACATGCAGTGGCCAT	0.328													32	45	---	---	---	---	PASS
PDZD8	118987	broad.mit.edu	37	10	119044377	119044377	+	Missense_Mutation	SNP	C	T	T	rs114690685	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119044377C>T	uc001lde.1	-	5	2066	c.1867G>A	c.(1867-1869)GTG>ATG	p.V623M		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	623	Pro-rich.				intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		GGAGGTGGCACCACCTTCTCT	0.478													74	104	---	---	---	---	PASS
C10orf46	143384	broad.mit.edu	37	10	120514286	120514286	+	5'UTR	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:120514286C>T	uc001lds.1	-	1					C10orf46_uc010qst.1_RNA	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	chromosome 10 open reading frame 46						ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding				0		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CTGCTGGCCCCCGGCACCCGC	0.687													14	67	---	---	---	---	PASS
RGS10	6001	broad.mit.edu	37	10	121286930	121286930	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121286930T>A	uc001lee.2	-	1	32	c.32A>T	c.(31-33)CAC>CTC	p.H11L	RGS10_uc001lef.2_Missense_Mutation_p.H5L|RGS10_uc001leg.2_Missense_Mutation_p.H19L	NM_002925	NP_002916	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform b	11					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ATCGCTGTCGTGGATGTCTGC	0.537													29	40	---	---	---	---	PASS
PPAPDC1A	196051	broad.mit.edu	37	10	122348813	122348813	+	Splice_Site	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:122348813A>G	uc001lev.1	+	7	969	c.617_splice	c.e7-2	p.D206_splice	PPAPDC1A_uc009xzl.1_Splice_Site_p.D143_splice|PPAPDC1A_uc001lew.1_Splice_Site|PPAPDC1A_uc001lex.1_Splice_Site_p.I56_splice|PPAPDC1A_uc001ley.1_Splice_Site_p.D85_splice	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain						phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)	1		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTTCCTGCCTAGATTCCTTTG	0.453													45	175	---	---	---	---	PASS
C10orf137	26098	broad.mit.edu	37	10	127426970	127426970	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127426970G>T	uc001liq.1	+	15	2230	c.1937G>T	c.(1936-1938)GGT>GTT	p.G646V	C10orf137_uc001lin.2_Missense_Mutation_p.G612V|C10orf137_uc001lio.1_Missense_Mutation_p.G612V|C10orf137_uc001lip.1_Missense_Mutation_p.G350V|C10orf137_uc001lir.2_Missense_Mutation_p.G140V|C10orf137_uc001lis.1_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCAAGAGGGGGTCCCGAGGGG	0.433													55	112	---	---	---	---	PASS
DOCK1	1793	broad.mit.edu	37	10	128830580	128830580	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:128830580G>T	uc001ljt.2	+	18	1909	c.1845G>T	c.(1843-1845)CAG>CAT	p.Q615H	DOCK1_uc010qun.1_Missense_Mutation_p.Q636H	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	615	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AACTGACTCAGAACGGTGCGT	0.577													4	5	---	---	---	---	PASS
GLRX3	10539	broad.mit.edu	37	10	131967730	131967730	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131967730G>T	uc001lkm.1	+	7	769	c.747G>T	c.(745-747)ATG>ATT	p.M249I	GLRX3_uc001lkn.1_Missense_Mutation_p.M249I|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	249	Glutaredoxin 2.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CTTCTGTGATGCTCTTTATGA	0.353													41	47	---	---	---	---	PASS
DPYSL4	10570	broad.mit.edu	37	10	134016258	134016258	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134016258G>A	uc009ybb.2	+	12	1544	c.1390G>A	c.(1390-1392)GGG>AGG	p.G464R		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	464					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGTCACCCCGGGGGCGGGCCG	0.622													22	105	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	10	134660783	134660783	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134660783C>T	uc010qux.1	-	34	5173	c.5173G>A	c.(5173-5175)GTA>ATA	p.V1725I		NM_017609	NP_060079			Homo sapiens cDNA, FLJ17989.																		TCTTCCTCTACCTCCAGCTCC	0.652													74	92	---	---	---	---	PASS
TUBGCP2	10844	broad.mit.edu	37	10	135102436	135102436	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135102436C>G	uc001lmg.1	-	10	1806	c.1449G>C	c.(1447-1449)GCG>GCC	p.A483A	TUBGCP2_uc001lmf.1_Silent_p.A76A|TUBGCP2_uc010qvc.1_Silent_p.A511A|TUBGCP2_uc009ybk.1_Silent_p.A483A|TUBGCP2_uc010qvd.1_Silent_p.A353A|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	483					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCTCCACATACGCCCGCTCTT	0.517													18	83	---	---	---	---	PASS
PAOX	196743	broad.mit.edu	37	10	135203258	135203258	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135203258G>T	uc001lmv.2	+						PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_Intron|PAOX_uc001lna.2_Intron|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	polyamine oxidase isoform 1						polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CCAGGTATGTGGCGTGCCCCA	0.736													10	12	---	---	---	---	PASS
ART5	116969	broad.mit.edu	37	11	3661139	3661139	+	Missense_Mutation	SNP	C	A	A	rs143088148		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3661139C>A	uc001lyb.1	-	2	913	c.520G>T	c.(520-522)GAC>TAC	p.D174Y	ART5_uc001lyc.1_Missense_Mutation_p.D174Y|ART5_uc001lyd.2_Missense_Mutation_p.D174Y|ART5_uc009yea.2_Missense_Mutation_p.D174Y	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	174						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGACAGAGTCTCCCAGCCTC	0.607													46	40	---	---	---	---	PASS
OR52K1	390036	broad.mit.edu	37	11	4510584	4510584	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4510584G>T	uc001lza.1	+	1	454	c.454G>T	c.(454-456)GCC>TCC	p.A152S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCTGCTGTGGCCCGGGCTGT	0.582													22	25	---	---	---	---	PASS
OR52M1	119772	broad.mit.edu	37	11	4567167	4567167	+	Nonsense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4567167T>A	uc010qyf.1	+	1	747	c.747T>A	c.(745-747)TGT>TGA	p.C249*		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCACCTCTGTGCCATCCTGA	0.512													78	75	---	---	---	---	PASS
OR51E1	143503	broad.mit.edu	37	11	4674143	4674143	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4674143C>G	uc001lzi.3	+	2	531	c.387C>G	c.(385-387)ATC>ATG	p.I129M		NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|pancreas(1)	4		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTGGCCATCTGTCACCCAC	0.552													61	34	---	---	---	---	PASS
OR52A5	390054	broad.mit.edu	37	11	5152960	5152960	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5152960G>T	uc010qyx.1	-	1	913	c.913C>A	c.(913-915)CAT>AAT	p.H305N		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A,	305	Cytoplasmic (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)		TTCACAATATGGTCACGAATT	0.343													42	39	---	---	---	---	PASS
HBE1	3046	broad.mit.edu	37	11	5290708	5290708	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5290708C>A	uc001mal.1	-	2	544	c.291G>T	c.(289-291)CTG>CTT	p.L97L	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.L97L	NM_005330	NP_005321	P02100	HBE_HUMAN	epsilon globin	97					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCACATGCAGCTTGTCAC	0.423													55	65	---	---	---	---	PASS
OR52L1	338751	broad.mit.edu	37	11	6007816	6007816	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6007816G>T	uc001mcd.2	-	1	400	c.345C>A	c.(343-345)TGC>TGA	p.C115*		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L,	115	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGATCAGGCAGACGATGT	0.552													23	17	---	---	---	---	PASS
ARFIP2	23647	broad.mit.edu	37	11	6500011	6500011	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6500011C>A	uc001mdk.2	-	5	631	c.494G>T	c.(493-495)GGT>GTT	p.G165V	ARFIP2_uc001mdl.2_Missense_Mutation_p.G165V|ARFIP2_uc010ral.1_Missense_Mutation_p.G127V|ARFIP2_uc010ram.1_Missense_Mutation_p.G71V|ARFIP2_uc010ran.1_Missense_Mutation_p.G198V|ARFIP2_uc001mdm.2_Intron|FXC1_uc001mdn.3_5'Flank|FXC1_uc001mdo.3_5'Flank	NM_012402	NP_036534	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	165	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGGCATCACCCAGTGCATG	0.622													22	18	---	---	---	---	PASS
OR10A4	283297	broad.mit.edu	37	11	6898600	6898600	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6898600C>A	uc010rat.1	+	1	722	c.722C>A	c.(721-723)ACC>AAC	p.T241N		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	241	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCATTCTCCACCTGTTCCGCC	0.517													67	43	---	---	---	---	PASS
OR2D2	120776	broad.mit.edu	37	11	6913008	6913008	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6913008C>A	uc010rau.1	-	1	724	c.724G>T	c.(724-726)GGC>TGC	p.G242C		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTGGGAGCCACAGGTAGAA	0.428													29	38	---	---	---	---	PASS
OR10A3	26496	broad.mit.edu	37	11	7960899	7960899	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7960899C>A	uc010rbi.1	-	1	169	c.169G>T	c.(169-171)GTT>TTT	p.V57F		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A,	57	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACATGGGAACGTGGAGGCTC	0.483													45	53	---	---	---	---	PASS
CSRP3	8048	broad.mit.edu	37	11	19209755	19209755	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:19209755C>T	uc001mpk.2	-	3	326	c.209G>A	c.(208-210)GGG>GAG	p.G70E		NM_003476	NP_003467	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3	70	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding				0						ATACCCGATCCCTTTGGGGCC	0.607													76	85	---	---	---	---	PASS
DBX1	120237	broad.mit.edu	37	11	20177907	20177907	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20177907G>A	uc001mpw.1	-	4	1002	c.1002C>T	c.(1000-1002)TCC>TCT	p.S334S		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	295					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCTGGGGGTCGGAGGACGCGT	0.731													11	23	---	---	---	---	PASS
PRMT3	10196	broad.mit.edu	37	11	20515791	20515791	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20515791G>C	uc001mqb.2	+	15	1694	c.1477G>C	c.(1477-1479)GTT>CTT	p.V493L	PRMT3_uc001mqc.2_Missense_Mutation_p.V416L|PRMT3_uc010rdn.1_Missense_Mutation_p.V431L	NM_005788	NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3 isoform 1	493							zinc ion binding				0						ACCATTTTCAGTTAAAGCAGG	0.378													112	90	---	---	---	---	PASS
NELL1	4745	broad.mit.edu	37	11	20940811	20940811	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20940811C>A	uc001mqe.2	+	7	843	c.690C>A	c.(688-690)TGC>TGA	p.C230*	NELL1_uc001mqf.2_Nonsense_Mutation_p.C230*|NELL1_uc009yid.2_Nonsense_Mutation_p.C258*|NELL1_uc010rdo.1_Nonsense_Mutation_p.C173*|NELL1_uc010rdp.1_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	nel-like 1 isoform 1 precursor	230	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			ovary(2)|large_intestine(1)	3						GCCCAACCTGCAGTGATTTCT	0.279													50	38	---	---	---	---	PASS
BBOX1	8424	broad.mit.edu	37	11	27148882	27148882	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27148882G>A	uc001mre.1	+	9	1414	c.1046G>A	c.(1045-1047)CGA>CAA	p.R349Q	BBOX1_uc009yih.1_Missense_Mutation_p.R349Q|BBOX1_uc001mrg.1_Missense_Mutation_p.R349Q	NM_003986	NP_003977	O75936	BODG_HUMAN	gamma-butyrobetaine dioxygenase	349					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1					Succinic acid(DB00139)|Vitamin C(DB00126)	CTTCATGGCCGACGTAGCTAT	0.413													52	81	---	---	---	---	PASS
KCNA4	3739	broad.mit.edu	37	11	30033380	30033380	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30033380C>T	uc001msk.2	-	2	1998	c.846G>A	c.(844-846)AGG>AGA	p.R282R		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	282						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						CGGGGAGGGCCCTGTCTTCCT	0.512													26	95	---	---	---	---	PASS
MPPED2	744	broad.mit.edu	37	11	30516883	30516883	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30516883C>A	uc001msr.2	-	3	616	c.496G>T	c.(496-498)GAG>TAG	p.E166*	MPPED2_uc001msq.3_Nonsense_Mutation_p.E166*|MPPED2_uc009yji.2_Nonsense_Mutation_p.E40*	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	166					nervous system development		hydrolase activity|metal ion binding			skin(1)	1						ACTGTTACCTCCGAATCTTGT	0.418													38	72	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	11	30953472	30953472	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30953472G>C	uc009yjk.1	-	10	1156	c.1087C>G	c.(1087-1089)CTT>GTT	p.L363V	uc009yjl.1_3'UTR					RecName: Full=Doublecortin domain-containing protein 5;																		CTCGGAACAAGCAGTCCTTGT	0.383													30	38	---	---	---	---	PASS
RCN1	5954	broad.mit.edu	37	11	32119896	32119896	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32119896G>T	uc010reb.1	+	3	715	c.449G>T	c.(448-450)GGA>GTA	p.G150V	RCN1_uc010rea.1_Missense_Mutation_p.G99V|RCN1_uc001mtk.2_5'UTR	NM_002901	NP_002892	Q15293	RCN1_HUMAN	reticulocalbin 1 precursor	150	EF-hand 2.					endoplasmic reticulum lumen	calcium ion binding			large_intestine(1)	1	Lung SC(675;0.225)					CATCCTGCAGGAAACCCCGCA	0.443													31	76	---	---	---	---	PASS
WIT1	51352	broad.mit.edu	37	11	32460663	32460663	+	RNA	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32460663C>T	uc010rec.1	+	2		c.1381C>T			WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron	NR_023920				full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).												0	Breast(20;0.247)					GTGCGCACGCCTGGGCCGCCC	0.667													9	11	---	---	---	---	PASS
C11orf41	25758	broad.mit.edu	37	11	33612940	33612940	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33612940C>A	uc001mup.3	+	11	3975	c.3851C>A	c.(3850-3852)ACC>AAC	p.T1284N	C11orf41_uc001mun.1_Intron	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1278						integral to membrane				ovary(2)	2						ACCATCAAGACCGCCAAATCC	0.522													43	77	---	---	---	---	PASS
RAG1	5896	broad.mit.edu	37	11	36597797	36597797	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36597797G>T	uc001mwu.3	+	2	3067	c.2943G>T	c.(2941-2943)CAG>CAT	p.Q981H	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	981			Q -> P (in T-CMVA).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				ATGCCAGGCAGTCCAAATGCT	0.438									Familial_Hemophagocytic_Lymphohistiocytosis				73	92	---	---	---	---	PASS
LRRC4C	57689	broad.mit.edu	37	11	40137179	40137179	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:40137179C>A	uc001mxa.1	-	2	2628	c.664G>T	c.(664-666)GAT>TAT	p.D222Y	LRRC4C_uc001mxc.1_Missense_Mutation_p.D218Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.D218Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.D218Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	222	LRR 7.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCAGCTCATCTAGTTTTATG	0.468													18	129	---	---	---	---	PASS
ARHGAP1	392	broad.mit.edu	37	11	46709718	46709718	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46709718C>T	uc001ndd.2	-						ARHGAP1_uc009yle.1_3'UTR	NM_004308	NP_004299	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1						Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			skin(1)	1		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		CCAGCAGGTACTCACCCCAGG	0.567													23	28	---	---	---	---	PASS
LRP4	4038	broad.mit.edu	37	11	46911596	46911596	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46911596T>C	uc001ndn.3	-	15	2137	c.1991A>G	c.(1990-1992)AAT>AGT	p.N664S		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	664	Extracellular (Potential).|LDL-receptor class B 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		GTTAGCGCTATTGATGCTCTT	0.532											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	147	---	---	---	---	PASS
MYBPC3	4607	broad.mit.edu	37	11	47361282	47361282	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47361282C>A	uc001nfa.3	-	20	2042	c.1987G>T	c.(1987-1989)GCT>TCT	p.A663S	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	662	Ig-like C2-type 5.				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)		TTATTTCCAGCTACAACCACA	0.537													3	62	---	---	---	---	PASS
RAPSN	5913	broad.mit.edu	37	11	47469657	47469657	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47469657C>G	uc001nfi.1	-	2	452	c.238G>C	c.(238-240)GAC>CAC	p.D80H	RAPSN_uc001nfj.1_Missense_Mutation_p.D80H|RAPSN_uc009yls.1_Missense_Mutation_p.D80H	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	43 kD receptor-associated protein of the synapse	80					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			ovary(1)	1						AGGAGGAAGTCGGCATCCTCC	0.617													13	69	---	---	---	---	PASS
AGBL2	79841	broad.mit.edu	37	11	47711888	47711888	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47711888C>A	uc001ngg.2	-	9	1471	c.1371G>T	c.(1369-1371)TTG>TTT	p.L457F	AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.L419F|AGBL2_uc001ngh.1_Missense_Mutation_p.L401F	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	457					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2						CTCTGGCACTCAAGACCACAG	0.512													111	155	---	---	---	---	PASS
FNBP4	23360	broad.mit.edu	37	11	47744565	47744565	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47744565G>A	uc009ylv.2	-	15	2921	c.2768C>T	c.(2767-2769)CCA>CTA	p.P923L	FNBP4_uc001ngi.2_Missense_Mutation_p.P237L|FNBP4_uc001ngj.2_Missense_Mutation_p.P830L	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	923	Pro-rich.									ovary(1)	1						TTCAGGTGGTGGCATTTTGGG	0.254													4	6	---	---	---	---	PASS
OR5D13	390142	broad.mit.edu	37	11	55541387	55541387	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55541387C>A	uc010ril.1	+	1	474	c.474C>A	c.(472-474)TCC>TCA	p.S158S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TAGTGTGCTCCCTGATACTCA	0.408													112	164	---	---	---	---	PASS
OR5D16	390144	broad.mit.edu	37	11	55607085	55607085	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55607085G>T	uc010rio.1	+	1	858	c.858G>T	c.(856-858)TTG>TTT	p.L286F		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				TGATCCCCTTGTTGAATCCCC	0.408													43	47	---	---	---	---	PASS
OR5F1	338674	broad.mit.edu	37	11	55761264	55761264	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761264C>A	uc010riv.1	-	1	838	c.838G>T	c.(838-840)GTG>TTG	p.V280L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					GGAATCACCACTGTGTAGAAC	0.443													48	73	---	---	---	---	PASS
OR5F1	338674	broad.mit.edu	37	11	55761943	55761943	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55761943G>C	uc010riv.1	-	1	159	c.159C>G	c.(157-159)TCC>TCG	p.S53S		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TGTGAAGCTGGGAATCGATCC	0.418													32	34	---	---	---	---	PASS
OR5AS1	219447	broad.mit.edu	37	11	55798057	55798057	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55798057C>A	uc010riw.1	+	1	163	c.163C>A	c.(163-165)CTT>ATT	p.L55I		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	55	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TAATTCAAGCCTTCAAATTCC	0.343													18	100	---	---	---	---	PASS
OR8J3	81168	broad.mit.edu	37	11	55904716	55904716	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55904716G>A	uc010riz.1	-	1	479	c.479C>T	c.(478-480)TCA>TTA	p.S160L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					TATACAAGGTGAAACCACAAT	0.428													28	109	---	---	---	---	PASS
OR5T1	390155	broad.mit.edu	37	11	56043850	56043850	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043850A>T	uc001nio.1	+	1	736	c.736A>T	c.(736-738)AGG>TGG	p.R246W		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	246	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)					TGCTGAAGGGAGGAGAAAAGT	0.438													65	234	---	---	---	---	PASS
OR8H1	219469	broad.mit.edu	37	11	56057656	56057656	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56057656C>A	uc010rje.1	-	1	883	c.883G>T	c.(883-885)GAA>TAA	p.E295*		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	Esophageal squamous(21;0.00448)					TTTTTAACTTCTTTGTTTCTA	0.343													96	145	---	---	---	---	PASS
OR5AP2	338675	broad.mit.edu	37	11	56409760	56409760	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56409760A>T	uc001njb.1	-	1	156	c.156T>A	c.(154-156)ATT>ATA	p.I52I		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	52	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						TAATCAATACAATCATCCCCA	0.428													17	113	---	---	---	---	PASS
OR9G9	504191	broad.mit.edu	37	11	56468339	56468339	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56468339C>A	uc010rjn.1	+	1	476	c.476C>A	c.(475-477)ACC>AAC	p.T159N		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TCAATCATCACCAAGAAAACG	0.463													25	221	---	---	---	---	PASS
APLNR	187	broad.mit.edu	37	11	57003959	57003959	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57003959C>A	uc001njo.2	-	1	969	c.520G>T	c.(520-522)GAG>TAG	p.E174*	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	174	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6						GTGGTGTTCTCCAAGTCCCCG	0.647													20	40	---	---	---	---	PASS
SSRP1	6749	broad.mit.edu	37	11	57099251	57099251	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57099251C>A	uc001njt.2	-	9	1381	c.1114G>T	c.(1114-1116)GAT>TAT	p.D372Y		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	372					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2						GAGATCTCATCGAAGCGGATG	0.517													28	33	---	---	---	---	PASS
OR10Q1	219960	broad.mit.edu	37	11	57995616	57995616	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57995616G>T	uc010rkd.1	-	1	732	c.732C>A	c.(730-732)TCC>TCA	p.S244S		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q,	244	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Breast(21;0.0589)				AGGAGCAGGTGGAGAAGGCCC	0.632													34	29	---	---	---	---	PASS
FAM111B	374393	broad.mit.edu	37	11	58892264	58892264	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58892264C>A	uc001nnl.2	+	4	937	c.694C>A	c.(694-696)CGG>AGG	p.R232R	FAM111B_uc001nnm.2_Silent_p.R202R|FAM111B_uc010rko.1_Silent_p.R202R	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	232							catalytic activity			ovary(2)	2						TGGCCGTTTTCGGTCTGACAT	0.373													4	98	---	---	---	---	PASS
MPEG1	219972	broad.mit.edu	37	11	58979250	58979250	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58979250G>T	uc001nnu.3	-	1	1245	c.1089C>A	c.(1087-1089)AAC>AAA	p.N363K		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	macrophage expressed gene 1 precursor	363	Extracellular (Potential).					integral to membrane				ovary(1)|skin(1)	2		all_epithelial(135;0.125)				CATCATCCGTGTTGGCCTGAA	0.483													68	81	---	---	---	---	PASS
MS4A3	932	broad.mit.edu	37	11	59828757	59828757	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59828757G>T	uc001nom.2	+	2	252	c.124G>T	c.(124-126)GAT>TAT	p.D42Y	MS4A3_uc001non.2_Missense_Mutation_p.D42Y|MS4A3_uc001noo.2_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member	42	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)				TGGATCACCAGATTATCAGAA	0.418													30	132	---	---	---	---	PASS
FADS3	3995	broad.mit.edu	37	11	61645001	61645001	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61645001C>A	uc001nsm.2	-	7	1020	c.867G>T	c.(865-867)CTG>CTT	p.L289L	FADS3_uc001nsn.2_Silent_p.L165L	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	289	Lumenal (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2						GCATGCACACCAGCATGTACG	0.637													12	45	---	---	---	---	PASS
AHNAK	79026	broad.mit.edu	37	11	62290294	62290294	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62290294C>T	uc001ntl.2	-	5	11895	c.11595G>A	c.(11593-11595)GAG>GAA	p.E3865E	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3865					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TGATGTTCATCTCAGGCATCT	0.468													88	239	---	---	---	---	PASS
STX5	6811	broad.mit.edu	37	11	62591750	62591750	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62591750T>C	uc001nvh.2	-	10	950	c.796A>G	c.(796-798)ATC>GTC	p.I266V	STX5_uc010rmi.1_Missense_Mutation_p.I170V|STX5_uc009yoh.2_RNA|STX5_uc001nvi.2_Missense_Mutation_p.I212V|STX5_uc010rmj.1_Missense_Mutation_p.I266V|STX5_uc001nvj.2_Missense_Mutation_p.I81V	NM_003164	NP_003155	Q13190	STX5_HUMAN	syntaxin 5	266	t-SNARE coiled-coil homology.|Cytoplasmic (Potential).				intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			ovary(1)|breast(1)	2						CGACTCTGGATGTAGGAATCC	0.512													36	112	---	---	---	---	PASS
SLC22A10	387775	broad.mit.edu	37	11	63064932	63064932	+	Intron	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63064932A>T	uc009yor.2	+						SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10							integral to membrane	transmembrane transporter activity			ovary(2)	2						TTTGCCCAGTAAGTCAATAAT	0.368													50	114	---	---	---	---	PASS
NRXN2	9379	broad.mit.edu	37	11	64453121	64453121	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64453121G>T	uc001oar.2	-	7	1588	c.1149C>A	c.(1147-1149)CGC>CGA	p.R383R	NRXN2_uc001oas.2_Silent_p.R359R|NRXN2_uc001oaq.2_Silent_p.R57R	NM_015080	NP_055895	P58401	NRX2B_HUMAN	neurexin 2 isoform alpha-1 precursor	203	Extracellular (Potential).|Laminin G-like.				cell adhesion	integral to membrane				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						CTCCTACCTGGCGCAGGTTTC	0.607													49	111	---	---	---	---	PASS
DPF2	5977	broad.mit.edu	37	11	65113402	65113402	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65113402C>G	uc001odm.2	+	8	789	c.777C>G	c.(775-777)TCC>TCG	p.S259S	DPF2_uc001odn.2_Silent_p.S273S|DPF2_uc010roe.1_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	259					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						TCTCTGTAGCCAAAAAGGGTC	0.517													37	141	---	---	---	---	PASS
LTBP3	4054	broad.mit.edu	37	11	65314398	65314398	+	Intron	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65314398G>C	uc001oej.2	-						LTBP3_uc001oef.2_5'Flank|LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Intron|LTBP3_uc010roi.1_Intron|LTBP3_uc001oei.2_Intron|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Intron	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding							extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						ATGTCTGCACGGGAGGGAGAA	0.637													20	98	---	---	---	---	PASS
SSSCA1	10534	broad.mit.edu	37	11	65338992	65338992	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65338992A>T	uc001oek.2	+	4	407	c.387A>T	c.(385-387)GCA>GCT	p.A129A	FAM89B_uc001oen.2_5'Flank|FAM89B_uc001oem.2_5'Flank|FAM89B_uc001oel.2_5'Flank	NM_006396	NP_006387	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	129					cell division|mitosis		protein binding			ovary(1)|skin(1)	2						AGGGAGCTGCAGCAGGACTCA	0.652													28	107	---	---	---	---	PASS
PCNXL3	399909	broad.mit.edu	37	11	65397058	65397058	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65397058G>T	uc001oey.2	+	26	4068	c.4068G>T	c.(4066-4068)CTG>CTT	p.L1356L	PCNXL3_uc001oez.2_Silent_p.L243L	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1356						integral to membrane					0						AGCACACACTGTGTGGGGACC	0.577													7	25	---	---	---	---	PASS
CD248	57124	broad.mit.edu	37	11	66083426	66083426	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66083426G>T	uc001ohm.1	-	1	1090	c.1073C>A	c.(1072-1074)GCC>GAC	p.A358D		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	358	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	GGAAGCCTGGGCACCCATGGC	0.592													14	49	---	---	---	---	PASS
CD248	57124	broad.mit.edu	37	11	66083757	66083757	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66083757C>A	uc001ohm.1	-	1	759	c.742G>T	c.(742-744)GAG>TAG	p.E248*		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	tumor endothelial marker 1 precursor	248	Extracellular (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			large_intestine(3)	3					Cefalotin(DB00456)	TCCACCTCCTCCACACATTCG	0.687													10	29	---	---	---	---	PASS
RBM4B	83759	broad.mit.edu	37	11	66444332	66444332	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66444332C>G	uc001oja.2	-	1	888	c.219G>C	c.(217-219)AAG>AAC	p.K73N	RBM4B_uc001ojb.2_Missense_Mutation_p.K73N	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	73					circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						AAGCTTTGCTCTTATTCTTGC	0.493													82	221	---	---	---	---	PASS
SHANK2	22941	broad.mit.edu	37	11	70332401	70332401	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70332401C>T	uc001oqc.2	-	21	4075	c.3997G>A	c.(3997-3999)GAG>AAG	p.E1333K	SHANK2_uc010rqn.1_Missense_Mutation_p.E745K|SHANK2_uc001opz.2_Missense_Mutation_p.E738K|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	954	SH3-binding (Potential).				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)			TCTGCCTTCTCGTCCTCTTCC	0.602													16	74	---	---	---	---	PASS
SHANK2	22941	broad.mit.edu	37	11	70332942	70332942	+	Silent	SNP	C	T	T	rs138180057		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70332942C>T	uc001oqc.2	-	21	3534	c.3456G>A	c.(3454-3456)GAG>GAA	p.E1152E	SHANK2_uc010rqn.1_Silent_p.E564E|SHANK2_uc001opz.2_Silent_p.E557E|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	773					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.E557E(1)		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)			GGTTTTCGGGCTCCCTGGGCG	0.677													15	44	---	---	---	---	PASS
NADSYN1	55191	broad.mit.edu	37	11	71184686	71184686	+	Missense_Mutation	SNP	G	C	C	rs137910047		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71184686G>C	uc001oqn.2	+	8	746	c.620G>C	c.(619-621)CGC>CCC	p.R207P	NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	207	CN hydrolase.			R -> H (in Ref. 3; CAG33567).	NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAAGTGCTGCGCAAAGCCAAC	0.557													23	80	---	---	---	---	PASS
PGM2L1	283209	broad.mit.edu	37	11	74047787	74047787	+	Silent	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74047787T>C	uc001ovb.1	-	14	2075	c.1779A>G	c.(1777-1779)TTA>TTG	p.L593L		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	593					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)					CTTCCTCCAGTAAAGCAGTGT	0.353													29	61	---	---	---	---	PASS
PAK1	5058	broad.mit.edu	37	11	77091007	77091007	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77091007T>A	uc001oyh.3	-	3	756	c.223A>T	c.(223-225)ATT>TTT	p.I75F	PAK1_uc010rso.1_5'UTR|PAK1_uc001oyg.3_Missense_Mutation_p.I75F|PAK1_uc001oyi.1_Missense_Mutation_p.I75F	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	75	CRIB.|GTPase-binding (By similarity).|Autoregulatory region.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					GGGAGAGAAATCTCTGGCCGC	0.393													23	74	---	---	---	---	PASS
PRCP	5547	broad.mit.edu	37	11	82536103	82536103	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82536103C>G	uc001ozs.2	-	9	1449	c.1336G>C	c.(1336-1338)GTT>CTT	p.V446L	PRCP_uc001ozr.2_Missense_Mutation_p.V467L	NM_005040	NP_005031	P42785	PCP_HUMAN	prolylcarboxypeptidase isoform 1 preproprotein	446					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			skin(1)	1						GTGACTGCAACCAGAGTGTCT	0.473													16	35	---	---	---	---	PASS
DLG2	1740	broad.mit.edu	37	11	83585492	83585492	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:83585492C>T	uc001paj.2	-	11	1524	c.1221G>A	c.(1219-1221)ATG>ATA	p.M407I	DLG2_uc001pai.2_Missense_Mutation_p.M304I|DLG2_uc010rsy.1_Missense_Mutation_p.M374I|DLG2_uc010rsz.1_Missense_Mutation_p.M407I|DLG2_uc010rta.1_Missense_Mutation_p.M407I|DLG2_uc001pak.2_Missense_Mutation_p.M512I|DLG2_uc010rtb.1_Missense_Mutation_p.M374I|DLG2_uc001pal.1_Missense_Mutation_p.M407I|DLG2_uc001pam.1_Missense_Mutation_p.M446I	NM_001364	NP_001355	Q15700	DLG2_HUMAN	chapsyn-110 isoform 2	407						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)				GTTGGAGAGTCATTGAAGGCT	0.343													20	58	---	---	---	---	PASS
CCDC83	220047	broad.mit.edu	37	11	85630407	85630407	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85630407G>T	uc001pbh.1	+	11	1608	c.1096G>T	c.(1096-1098)GGC>TGC	p.G366C	CCDC83_uc001pbg.1_Missense_Mutation_p.G397C|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.G266C	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	366										skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGTAAACTTGGGCCCCCTGGG	0.398													43	109	---	---	---	---	PASS
FOLH1B	219595	broad.mit.edu	37	11	89424086	89424086	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89424086A>G	uc001pda.2	+	11	1262	c.736A>G	c.(736-738)AGT>GGT	p.S246G		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	246					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6						ACTGTATCACAGTGTCTATGA	0.368													24	60	---	---	---	---	PASS
NAALAD2	10003	broad.mit.edu	37	11	89896533	89896533	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89896533C>A	uc001pdf.3	+	10	1240	c.1131C>A	c.(1129-1131)GAC>GAA	p.D377E	NAALAD2_uc009yvx.2_Missense_Mutation_p.D344E|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pde.2_Missense_Mutation_p.D284E	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	377	Extracellular (Potential).|NAALADase.	Zinc 2; catalytic.|Zinc 1.			proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GAGCTATTGACCCAACCAGTG	0.413													61	186	---	---	---	---	PASS
FAT3	120114	broad.mit.edu	37	11	92088254	92088254	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92088254C>A	uc001pdj.3	+	1	2993	c.2976C>A	c.(2974-2976)ATC>ATA	p.I992I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	992	Cadherin 9.|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)				GTGGTGCCATCCGCTTGAGCA	0.463										TCGA Ovarian(4;0.039)			14	37	---	---	---	---	PASS
FAT3	120114	broad.mit.edu	37	11	92534453	92534453	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92534453A>T	uc001pdj.3	+	9	8291	c.8274A>T	c.(8272-8274)ATA>ATT	p.I2758I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2758	Extracellular (Potential).|Cadherin 25.				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)				TATTCGTCATAGAACAGGAAA	0.478										TCGA Ovarian(4;0.039)			13	37	---	---	---	---	PASS
FAT3	120114	broad.mit.edu	37	11	92564924	92564924	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92564924G>T	uc001pdj.3	+	13	9635	c.9618G>T	c.(9616-9618)CGG>CGT	p.R3206R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3206	Cadherin 29.|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)				TCAGCGTGCGGGCCACTGACC	0.562										TCGA Ovarian(4;0.039)			6	16	---	---	---	---	PASS
FAT3	120114	broad.mit.edu	37	11	92577660	92577660	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92577660C>G	uc001pdj.3	+	18	11144	c.11127C>G	c.(11125-11127)AGC>AGG	p.S3709R	FAT3_uc001pdi.3_Missense_Mutation_p.S149R	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	3709	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)				AGATGCACAGCAGCGAGTTCT	0.547										TCGA Ovarian(4;0.039)			3	14	---	---	---	---	PASS
MTMR2	8898	broad.mit.edu	37	11	95595495	95595495	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95595495C>A	uc001pfu.2	-	4	551	c.298G>T	c.(298-300)GCT>TCT	p.A100S	MTMR2_uc001pfv.2_Missense_Mutation_p.A28S|MTMR2_uc001pfs.2_Missense_Mutation_p.A28S|MTMR2_uc001pft.2_Missense_Mutation_p.A28S|MTMR2_uc010ruj.1_Missense_Mutation_p.A83S	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	100	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTCGTACAGCGCCAGTGAAT	0.363													20	51	---	---	---	---	PASS
PGR	5241	broad.mit.edu	37	11	100933286	100933286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:100933286C>A	uc001pgh.2	-	4	2847	c.2104G>T	c.(2104-2106)GGA>TGA	p.G702*	PGR_uc001pgg.2_Nonsense_Mutation_p.G83*|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	702	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTGTCATGTCCTGCATAGATC	0.428													57	211	---	---	---	---	PASS
PGR	5241	broad.mit.edu	37	11	100933287	100933287	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:100933287T>A	uc001pgh.2	-	4	2846	c.2103A>T	c.(2101-2103)GCA>GCT	p.A701A	PGR_uc001pgg.2_Silent_p.A82A|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	701	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTCATGTCCTGCATAGATCA	0.428													58	209	---	---	---	---	PASS
PGR	5241	broad.mit.edu	37	11	100999141	100999141	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:100999141C>A	uc001pgh.2	-	1	1404	c.661G>T	c.(661-663)GTT>TTT	p.V221F	PGR_uc001pgi.2_Missense_Mutation_p.V221F|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	221	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCCTCCTCAACCTCCACCGCA	0.711													3	12	---	---	---	---	PASS
MMP20	9313	broad.mit.edu	37	11	102477371	102477371	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102477371G>T	uc001phc.2	-	6	861	c.848C>A	c.(847-849)CCC>CAC	p.P283H		NM_004771	NP_004762	O60882	MMP20_HUMAN	matrix metalloproteinase 20 preproprotein	283					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			urinary_tract(1)|skin(1)	2	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGGGGCATGGGGCAGAGTGGG	0.522													8	47	---	---	---	---	PASS
DDI1	414301	broad.mit.edu	37	11	103908673	103908673	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103908673G>A	uc001phr.2	+	1	1366	c.1123G>A	c.(1123-1125)GGG>AGG	p.G375R	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	375					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GATGGTAAGTGGGCAAGATGA	0.443													23	54	---	---	---	---	PASS
CUL5	8065	broad.mit.edu	37	11	107966404	107966404	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107966404A>T	uc001pjv.2	+	16	2558	c.1891A>T	c.(1891-1893)AGG>TGG	p.R631W	CUL5_uc001pju.2_RNA	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Vasopressin-activated calcium-mobilizing	631					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)		TGCTGAACTTAGGAGGACTTT	0.363													31	131	---	---	---	---	PASS
NPAT	4863	broad.mit.edu	37	11	108047022	108047022	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108047022T>A	uc001pjz.3	-	12	1185	c.1083A>T	c.(1081-1083)GCA>GCT	p.A361A	NPAT_uc001pka.2_Silent_p.A156A	NM_002519	NP_002510	Q14207	NPAT_HUMAN	nuclear protein,  ataxia-telangiectasia locus	361					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			ovary(2)	2		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TAGTTTCATCTGCTAAGACTA	0.289													22	75	---	---	---	---	PASS
ATM	472	broad.mit.edu	37	11	108168091	108168091	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108168091G>T	uc001pkb.1	+	33	5372	c.4987G>T	c.(4987-4989)GGT>TGT	p.G1663C	ATM_uc009yxr.1_Missense_Mutation_p.G1663C|ATM_uc001pke.1_Missense_Mutation_p.G315C|ATM_uc001pkg.1_Missense_Mutation_p.G20C	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1663					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAACCACACTGGTGAAAAAGA	0.199			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			15	52	---	---	---	---	PASS
HTR3A	3359	broad.mit.edu	37	11	113857310	113857310	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113857310T>C	uc010rxb.1	+	7	1027	c.794T>C	c.(793-795)ATG>ACG	p.M265T	HTR3A_uc010rxa.1_Missense_Mutation_p.M265T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.M244T	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	259	Helical; Name=1; (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCATGGTCATGGACATCGTG	0.582													26	90	---	---	---	---	PASS
HTR3A	3359	broad.mit.edu	37	11	113857737	113857737	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113857737C>T	uc010rxb.1	+	7	1454	c.1221C>T	c.(1219-1221)ACC>ACT	p.T407T	HTR3A_uc010rxa.1_Silent_p.T375T|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Silent_p.T354T	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	369	Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCCAGCCACCTCCCAAGCCA	0.577													9	44	---	---	---	---	PASS
HTR3A	3359	broad.mit.edu	37	11	113860256	113860256	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113860256G>T	uc010rxb.1	+	8	1555	c.1322G>T	c.(1321-1323)AGC>ATC	p.S441I	HTR3A_uc010rxa.1_Missense_Mutation_p.S409I|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.S388I	NM_213621	NP_998786	P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A	403	Cytoplasmic (Potential).				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GACAGATGTAGCCCTCCCCCA	0.627													33	100	---	---	---	---	PASS
ZBTB16	7704	broad.mit.edu	37	11	114121265	114121265	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114121265G>T	uc001pop.2	+	7	2274	c.2010G>T	c.(2008-2010)CTG>CTT	p.L670L	ZBTB16_uc001poq.2_Silent_p.L670L	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	670					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		ACCTCTACCTGTGCTATGTGT	0.562													27	40	---	---	---	---	PASS
APOC3	345	broad.mit.edu	37	11	116701610	116701610	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116701610C>T	uc001ppt.1	+	3	223	c.177C>T	c.(175-177)GCC>GCT	p.A59A		NM_000040	NP_000031	P02656	APOC3_HUMAN	apolipoprotein C-III precursor	59				QQA -> AQQ (in Ref. 8; AA sequence).	Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol import|negative regulation of fatty acid biosynthetic process|negative regulation of high-density lipoprotein particle clearance|negative regulation of lipoprotein lipase activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor-mediated endocytosis|negative regulation of triglyceride catabolic process|negative regulation of very-low-density lipoprotein particle clearance|negative regulation of very-low-density lipoprotein particle remodeling|phospholipid efflux|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle assembly	chylomicron|intermediate-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	high-density lipoprotein particle receptor binding|lipase inhibitor activity|phospholipid binding				0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCCAGCAGGCCAGGTACACCC	0.642													6	34	---	---	---	---	PASS
DSCAML1	57453	broad.mit.edu	37	11	117647604	117647604	+	Missense_Mutation	SNP	C	A	A	rs148829010		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117647604C>A	uc001prh.1	-	3	595	c.593G>T	c.(592-594)CGT>CTT	p.R198L	DSCAML1_uc001pri.1_Missense_Mutation_p.R2L	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	138	Extracellular (Potential).|Ig-like C2-type 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)		CACGTTGCCACGCATTGACCT	0.522													11	37	---	---	---	---	PASS
TMEM25	84866	broad.mit.edu	37	11	118403633	118403633	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118403633C>G	uc010rye.1	+	4	558	c.384C>G	c.(382-384)TTC>TTG	p.F128L	TMEM25_uc010ryd.1_Missense_Mutation_p.F128L|TMEM25_uc001ptk.3_Missense_Mutation_p.F128L|TMEM25_uc001pth.2_Missense_Mutation_p.F128L|TMEM25_uc009zad.2_Missense_Mutation_p.F128L|TMEM25_uc001pti.2_Silent_p.V24V|TMEM25_uc010ryf.1_Intron|TMEM25_uc001ptl.2_Missense_Mutation_p.F128L|TMEM25_uc001ptm.2_Missense_Mutation_p.F128L|TMEM25_uc001ptn.2_Missense_Mutation_p.F128L	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	128	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTGTACCAGTCAAGCCAGAGA	0.612													34	81	---	---	---	---	PASS
C2CD2L	9854	broad.mit.edu	37	11	118983091	118983091	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118983091G>A	uc001pvo.2	+	8	1432	c.1073G>A	c.(1072-1074)AGC>AAC	p.S358N	C2CD2L_uc001pvn.2_Missense_Mutation_p.S358N	NM_014807	NP_055622	O14523	C2C2L_HUMAN	transmembrane protein 24	358						integral to membrane					0						AGGAGCAGCAGCTGTGGAGAC	0.622													24	46	---	---	---	---	PASS
CBL	867	broad.mit.edu	37	11	119148970	119148970	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119148970G>T	uc001pwe.2	+	8	1328	c.1190G>T	c.(1189-1191)GGA>GTA	p.G397V		NM_005188	NP_005179	P22681	CBL_HUMAN	Cas-Br-M (murine) ecotropic retroviral	397	Asp/Glu-rich (acidic).|RING-type.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(13)|p.G397_I429del(1)|p.E366_K477del(1)		haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GAGCCCTGTGGACACCTCATG	0.383									CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome				35	92	---	---	---	---	PASS
ARHGEF12	23365	broad.mit.edu	37	11	120352171	120352171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120352171G>A	uc001pxl.1	+	39	4447	c.4440G>A	c.(4438-4440)TGG>TGA	p.W1480*	ARHGEF12_uc009zau.1_Nonsense_Mutation_p.W1377*	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1480					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGCAGCGCTGGGGAGCTATGG	0.507			T	MLL	AML								24	59	---	---	---	---	PASS
SORL1	6653	broad.mit.edu	37	11	121430366	121430366	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121430366G>A	uc001pxx.2	+	21	3129	c.3049G>A	c.(3049-3051)GGA>AGA	p.G1017R		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1017	Extracellular (Potential).				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAAGAACACTGGTAAGCCAGA	0.507													16	57	---	---	---	---	PASS
OR10G8	219869	broad.mit.edu	37	11	123900904	123900904	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900904C>A	uc001pzp.1	+	1	575	c.575C>A	c.(574-576)TCA>TAA	p.S192*		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCAGACACCTCAGCCATAGAG	0.507													31	117	---	---	---	---	PASS
OR8D2	283160	broad.mit.edu	37	11	124189528	124189528	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124189528C>A	uc010sah.1	-	1	566	c.566G>T	c.(565-567)TGC>TTC	p.C189F		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|pancreas(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGTGCTGGAGCAAGACAGAGT	0.428													19	50	---	---	---	---	PASS
ROBO4	54538	broad.mit.edu	37	11	124757010	124757010	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124757010G>A	uc001qbg.2	-	15	2438	c.2298C>T	c.(2296-2298)TCC>TCT	p.S766S	ROBO4_uc010sas.1_Silent_p.S621S|ROBO4_uc001qbh.2_Silent_p.S656S|ROBO4_uc001qbi.2_Silent_p.S324S	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	766	Pro/Ser-rich.				angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGCCAGAGAGGGAAGAGGCCT	0.677													10	42	---	---	---	---	PASS
ST14	6768	broad.mit.edu	37	11	130058447	130058447	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130058447G>T	uc001qfw.2	+	3	457	c.264G>T	c.(262-264)AAG>AAT	p.K88N	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	88	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTGTCCAGAAGGTCTTCAATG	0.557													38	107	---	---	---	---	PASS
OPCML	4978	broad.mit.edu	37	11	132527091	132527091	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132527091C>G	uc001qgs.2	-	2	341	c.291G>C	c.(289-291)CAG>CAC	p.Q97H	OPCML_uc001qgu.2_Missense_Mutation_p.Q90H|OPCML_uc010sck.1_Missense_Mutation_p.Q97H|OPCML_uc001qgt.2_Missense_Mutation_p.Q97H|OPCML_uc010scl.1_Missense_Mutation_p.Q56H	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	97	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGATGCTGTACTGGGTTGGTG	0.527													32	96	---	---	---	---	PASS
IQSEC3	440073	broad.mit.edu	37	12	250438	250438	+	Missense_Mutation	SNP	C	A	A	rs150994565	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:250438C>A	uc001qhw.1	+	2	1237	c.1231C>A	c.(1231-1233)CGC>AGC	p.R411S	IQSEC3_uc001qhu.1_Missense_Mutation_p.R411S|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	714	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCAGTTCAACCGCGACGTGCT	0.612													35	145	---	---	---	---	PASS
CACNA2D4	93589	broad.mit.edu	37	12	1995152	1995152	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1995152C>A	uc001qjp.2	-	9	1278	c.1047G>T	c.(1045-1047)CAG>CAT	p.Q349H	CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.Q265H	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	voltage-gated calcium channel alpha(2)delta-4	349	VWFA.|Extracellular (Potential).					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			ovary(1)	1	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTCGGTCCGCCTGGACGAGGA	0.537													25	26	---	---	---	---	PASS
KCNA5	3741	broad.mit.edu	37	12	5154071	5154071	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5154071C>G	uc001qni.2	+	1	987	c.758C>G	c.(757-759)GCC>GGC	p.A253G		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	253	Helical; Name=Segment S1; (Potential).					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CGGGCCATCGCCATCGTCTCG	0.592													123	192	---	---	---	---	PASS
NTF3	4908	broad.mit.edu	37	12	5603961	5603961	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5603961G>C	uc001qnl.3	+	1	664	c.581G>C	c.(580-582)CGA>CCA	p.R194P	NTF3_uc001qnk.3_Missense_Mutation_p.R207P	NM_002527	NP_002518	P20783	NTF3_HUMAN	neurotrophin 3 isoform 2 preproprotein	194					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			pancreas(1)	1						TATGAAACGCGATGTAAGGAA	0.507													64	86	---	---	---	---	PASS
VWF	7450	broad.mit.edu	37	12	6125732	6125732	+	Nonsense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6125732A>T	uc001qnn.1	-	30	5511	c.5261T>A	c.(5260-5262)TTG>TAG	p.L1754*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1754	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AAGGCTCAGCAAATGGGCTTT	0.473													40	72	---	---	---	---	PASS
TNFRSF1A	7132	broad.mit.edu	37	12	6438776	6438776	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6438776G>A	uc001qnu.2	-	10	1351	c.1070C>T	c.(1069-1071)GCG>GTG	p.A357V	TNFRSF1A_uc001qnt.2_Missense_Mutation_p.A249V|TNFRSF1A_uc010sey.1_Missense_Mutation_p.A125V|TNFRSF1A_uc010sez.1_Missense_Mutation_p.A249V|TNFRSF1A_uc009zek.2_Missense_Mutation_p.A314V	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	357	Death.|Cytoplasmic (Potential).				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						GTACAGCGTCGCGGGGTCATC	0.726													5	33	---	---	---	---	PASS
GAPDH	2597	broad.mit.edu	37	12	6645907	6645907	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6645907G>A	uc001qop.1	+	4	289	c.187G>A	c.(187-189)GAG>AAG	p.E63K	GAPDH_uc009zep.1_Missense_Mutation_p.E21K|GAPDH_uc001qoq.1_5'UTR|GAPDH_uc001qor.1_5'UTR|GAPDH_uc001qos.1_Missense_Mutation_p.E63K|GAPDH_uc001qot.1_Missense_Mutation_p.E63K|GAPDH_uc001qou.1_5'UTR|GAPDH_uc001qov.1_Missense_Mutation_p.E21K|GAPDH_uc001qow.1_Silent_p.L14L|GAPDH_uc001qox.1_5'Flank	NM_002046	NP_002037	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	63	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding				0					NADH(DB00157)	CGTCAAGGCTGAGAACGGGAA	0.498													97	138	---	---	---	---	PASS
CLEC6A	93978	broad.mit.edu	37	12	8629926	8629926	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8629926C>T	uc001qum.1	+	6	613	c.496C>T	c.(496-498)CTA>TTA	p.L166L		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	dectin-2	166	Extracellular (Potential).|C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)	1	Lung SC(5;0.184)					ATTTTGGCACCTAGGTGAGCC	0.403													66	219	---	---	---	---	PASS
PZP	5858	broad.mit.edu	37	12	9356370	9356370	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9356370G>C	uc001qvl.2	-	2	290	c.261C>G	c.(259-261)TCC>TCG	p.S87S	PZP_uc009zgl.2_5'UTR	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						TCACAGTGAAGGAGACACAGT	0.512													43	123	---	---	---	---	PASS
CLEC2D	29121	broad.mit.edu	37	12	9845509	9845509	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9845509G>T	uc001qwg.1	+	4	465	c.443G>T	c.(442-444)GGT>GTT	p.G148V	CLEC2D_uc001qwf.1_Missense_Mutation_p.G148V|CLEC2D_uc009zgs.1_RNA|CLEC2D_uc001qwh.1_RNA|CLEC2D_uc009zgt.1_Intron|CLEC2D_uc009zgu.1_Intron	NM_013269	NP_037401	Q9UHP7	CLC2D_HUMAN	osteoclast inhibitory lectin isoform 1	148	Extracellular (Potential).|C-type lectin.				cell surface receptor linked signaling pathway	cell surface|endoplasmic reticulum|integral to plasma membrane|membrane fraction	sugar binding|transmembrane receptor activity				0						TGGATAAATGGTACTGAATGG	0.363													26	71	---	---	---	---	PASS
TAS2R10	50839	broad.mit.edu	37	12	10978682	10978682	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10978682T>C	uc001qyy.1	-	1	187	c.187A>G	c.(187-189)ACA>GCA	p.T63A		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	63	Helical; Name=2; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity				0						AATCCATCTGTAATTATTATC	0.313													61	73	---	---	---	---	PASS
C12orf36	283422	broad.mit.edu	37	12	13526185	13526185	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13526185C>A	uc001rbs.1	-	3	588	c.370G>T	c.(370-372)GAA>TAA	p.E124*		NM_182558	NP_872364			hypothetical protein LOC283422												0				BRCA - Breast invasive adenocarcinoma(232;0.198)		CTCACATCTTCCTCAATTTTC	0.408													81	232	---	---	---	---	PASS
GUCY2C	2984	broad.mit.edu	37	12	14840956	14840956	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14840956C>A	uc001rcd.2	-	2	396	c.259G>T	c.(259-261)GGT>TGT	p.G87C	GUCY2C_uc009zhz.2_Missense_Mutation_p.G87C	NM_004963	NP_004954	P25092	GUC2C_HUMAN	guanylate cyclase 2C precursor	87	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			ovary(4)|skin(2)	6						TGAATCAGACCATCCGAATAC	0.433													65	126	---	---	---	---	PASS
WBP11	51729	broad.mit.edu	37	12	14949838	14949838	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14949838T>A	uc001rci.2	-	5	451	c.290A>T	c.(289-291)GAA>GTA	p.E97V		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	97	Potential.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2						ATTCTCTTTTTCATAGAGTCG	0.368													77	166	---	---	---	---	PASS
EPS8	2059	broad.mit.edu	37	12	15823797	15823797	+	Missense_Mutation	SNP	C	A	A	rs77383735		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15823797C>A	uc009zif.2	-	4	291	c.197G>T	c.(196-198)CGT>CTT	p.R66L	EPS8_uc001rdb.2_Missense_Mutation_p.R66L|EPS8_uc009zig.2_5'UTR	NM_004447	NP_004438	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway	66					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TACTTCAACACGGTATTGAGA	0.353													82	128	---	---	---	---	PASS
MGST1	4257	broad.mit.edu	37	12	16516939	16516939	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16516939G>T	uc001rdf.2	+	4	497	c.432G>T	c.(430-432)ATG>ATT	p.M144I	MGST1_uc001rdg.2_Missense_Mutation_p.M144I|MGST1_uc009zih.1_Intron|MGST1_uc001rdh.2_Missense_Mutation_p.M144I|MGST1_uc001rdi.2_Missense_Mutation_p.M144I	NM_145792	NP_665735	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	144	Helical; (By similarity).				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity				0		Hepatocellular(102;0.121)			Glutathione(DB00143)	CTCTTTCCATGGCTTACAGGT	0.388													116	141	---	---	---	---	PASS
CAPZA3	93661	broad.mit.edu	37	12	18892099	18892099	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:18892099A>G	uc001rdy.2	+	1	1055	c.897A>G	c.(895-897)ATA>ATG	p.I299M	PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	capping protein alpha 3	299					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			ovary(1)|central_nervous_system(1)	2	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACTGGATAATATAAAGAATTG	0.353													241	141	---	---	---	---	PASS
PDE3A	5139	broad.mit.edu	37	12	20522893	20522893	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20522893C>A	uc001reh.1	+	1	697	c.675C>A	c.(673-675)TCC>TCA	p.S225S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	225	Helical; (Potential).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGACCGTGTCCCTCATTTCCT	0.622													41	150	---	---	---	---	PASS
SLCO1B1	10599	broad.mit.edu	37	12	21331906	21331906	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21331906G>T	uc001req.3	+	7	783	c.679G>T	c.(679-681)GGA>TGA	p.G227*		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	227	Helical; Name=5; (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTTACCCTGGGATCTCTGTT	0.353													257	187	---	---	---	---	PASS
RECQL	5965	broad.mit.edu	37	12	21643203	21643203	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21643203C>G	uc001rex.2	-	5	672	c.324G>C	c.(322-324)GAG>GAC	p.E108D	RECQL_uc001rey.2_Missense_Mutation_p.E108D	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	108	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						CAAGAAATACCTCCTTTCCAG	0.353								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					72	295	---	---	---	---	PASS
ST8SIA1	6489	broad.mit.edu	37	12	22487129	22487129	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22487129C>A	uc001rfo.3	-	1	520	c.38G>T	c.(37-39)AGA>ATA	p.R13I	ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	13	Cytoplasmic (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3						CATGGCCCCTCTGGACGTTTG	0.697													32	110	---	---	---	---	PASS
ITPR2	3709	broad.mit.edu	37	12	26807026	26807026	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26807026C>A	uc001rhg.2	-	21	3040	c.2623G>T	c.(2623-2625)GGA>TGA	p.G875*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	875	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)					CTATAAAATCCAAAGTATATA	0.373													34	154	---	---	---	---	PASS
FAR2	55711	broad.mit.edu	37	12	29423493	29423493	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29423493G>A	uc001ris.3	+	2	258	c.111G>A	c.(109-111)CTG>CTA	p.L37L	FAR2_uc001rit.2_Silent_p.L37L|FAR2_uc009zjm.2_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	37					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor				0						GCCCAGACCTGAAAGTCATTT	0.527													103	54	---	---	---	---	PASS
OVCH1	341350	broad.mit.edu	37	12	29648348	29648348	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:29648348G>C	uc001rix.1	-	4	324	c.324C>G	c.(322-324)AGC>AGG	p.S108R		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	ovochymase 1 precursor	108	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGAAAGAGGCTGTACTCCC	0.388													49	195	---	---	---	---	PASS
DDX11	1663	broad.mit.edu	37	12	31236942	31236942	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31236942G>A	uc001rjt.1	+	3	591	c.340G>A	c.(340-342)GTT>ATT	p.V114I	DDX11_uc010sjw.1_Missense_Mutation_p.V114I|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.V114I|DDX11_uc001rjs.1_Missense_Mutation_p.V114I|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.V114I|DDX11_uc001rjw.1_Missense_Mutation_p.V88I	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	114	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCGGCCTGGGTTACTCAGTT	0.562										Multiple Myeloma(12;0.14)			89	284	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	12	31354068	31354068	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31354068G>C	uc010sjy.1	-	2	134	c.134C>G	c.(133-135)TCC>TGC	p.S45C						RecName: Full=Ovostatin homolog 1; Flags: Precursor;																		ATAGTTGAGGGAGACCGTCAA	0.388													8	7	---	---	---	---	PASS
LRRK2	120892	broad.mit.edu	37	12	40740726	40740726	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40740726G>T	uc001rmg.3	+	42	6401	c.6280_splice	c.e42+1	p.D2094_splice	LRRK2_uc009zjw.2_Splice_Site_p.D932_splice|LRRK2_uc001rmi.2_Splice_Site_p.D927_splice	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAATTACCTGGTAAGTTCTGT	0.294													27	39	---	---	---	---	PASS
CNTN1	1272	broad.mit.edu	37	12	41327336	41327336	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41327336G>C	uc001rmm.1	+	8	890	c.777G>C	c.(775-777)GTG>GTC	p.V259V	CNTN1_uc009zjy.1_Silent_p.V259V|CNTN1_uc001rmn.1_Silent_p.V248V|CNTN1_uc001rmo.2_Silent_p.V259V	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	259	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCAAAATGTGACCTTAGAAT	0.294													81	94	---	---	---	---	PASS
MLL2	8085	broad.mit.edu	37	12	49431527	49431527	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49431527T>A	uc001rta.3	-	34	9612	c.9612A>T	c.(9610-9612)CCA>CCT	p.P3204P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3204					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGGATCCTCCTGGGCCACTCA	0.602			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			6	10	---	---	---	---	PASS
PRPF40B	25766	broad.mit.edu	37	12	50026907	50026907	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50026907G>T	uc001rur.1	+	6	457	c.393G>T	c.(391-393)GAG>GAT	p.E131D	PRPF40B_uc001rup.1_Missense_Mutation_p.E153D|PRPF40B_uc001ruq.1_Missense_Mutation_p.E125D|PRPF40B_uc001rus.1_Missense_Mutation_p.E74D	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	131					mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CCAAGGCAGAGGTCCTGAGCT	0.557													8	5	---	---	---	---	PASS
KRT75	9119	broad.mit.edu	37	12	52828050	52828050	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52828050G>T	uc001saj.2	-	1	61	c.39C>A	c.(37-39)AGC>AGA	p.S13R		NM_004693	NP_004684	O95678	K2C75_HUMAN	keratin 75	13	Head.					keratin filament	structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGCCCCTGCGGCTGCCAGACT	0.672													12	4	---	---	---	---	PASS
OR6C65	403282	broad.mit.edu	37	12	55795096	55795096	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55795096G>C	uc010spl.1	+	1	784	c.784G>C	c.(784-786)GCA>CCA	p.A262P		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAAAACATCTGCAAAAGAAGG	0.388													75	61	---	---	---	---	PASS
OR10P1	121130	broad.mit.edu	37	12	56030896	56030896	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56030896C>A	uc010spq.1	+	1	221	c.221C>A	c.(220-222)ACC>AAC	p.T74N		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|pancreas(1)	2						CTCTTCTACACCACTGACATC	0.592													75	46	---	---	---	---	PASS
RDH16	8608	broad.mit.edu	37	12	57346753	57346753	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57346753C>A	uc001smi.3	-	3	766	c.594G>T	c.(592-594)GGG>GGT	p.G198G	RDH16_uc009zpa.2_Silent_p.G53G	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	198	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						CCACCTTCACCCCAAAGTAGG	0.458													65	72	---	---	---	---	PASS
LRP1	4035	broad.mit.edu	37	12	57573349	57573349	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57573349G>T	uc001snd.2	+							NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTTCTTCCTGGCCCTGGATG	0.627													15	11	---	---	---	---	PASS
AGAP2	116986	broad.mit.edu	37	12	58126641	58126641	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58126641C>A	uc001spq.2	-	6	1671	c.1671G>T	c.(1669-1671)CGG>CGT	p.R557R	AGAP2_uc001spp.2_Silent_p.R557R|AGAP2_uc001spr.2_Silent_p.R221R	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-L	557	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5						CCTGGAAGACCCGATCCACAT	0.567													223	183	---	---	---	---	PASS
LRIG3	121227	broad.mit.edu	37	12	59268065	59268065	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:59268065T>A	uc001sqr.2	-	18	3133	c.2887A>T	c.(2887-2889)AGT>TGT	p.S963C	LRIG3_uc009zqh.2_Missense_Mutation_p.S903C|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	963						integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTATGTAACTGGGCTCATAG	0.428													94	68	---	---	---	---	PASS
FAM19A2	338811	broad.mit.edu	37	12	62261207	62261207	+	5'UTR	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62261207C>A	uc001sqw.2	-	2					FAM19A2_uc001sqx.2_5'UTR|FAM19A2_uc001sqy.2_RNA	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine							cytoplasm				ovary(1)	1			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TCTTACTCATCCTGCaaataa	0.323													53	38	---	---	---	---	PASS
FRS2	10818	broad.mit.edu	37	12	69962853	69962853	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69962853G>T	uc001suy.2	+	6	553	c.43G>T	c.(43-45)GAT>TAT	p.D15Y	FRS2_uc001suz.2_Missense_Mutation_p.D15Y|FRS2_uc009zrj.2_Missense_Mutation_p.D15Y|FRS2_uc009zrk.2_Missense_Mutation_p.D15Y	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	15	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			prostate(1)|kidney(1)	2	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CACTGTCCCAGATAACCATCG	0.353													50	40	---	---	---	---	PASS
TPH2	121278	broad.mit.edu	37	12	72372758	72372758	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72372758G>C	uc009zrw.1	+	7	973	c.832G>C	c.(832-834)GTG>CTG	p.V278L	TPH2_uc001swy.2_Missense_Mutation_p.V188L	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	278					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)	GGTGAGGCCGGTGGCTGGATA	0.527													76	61	---	---	---	---	PASS
NAV3	89795	broad.mit.edu	37	12	78400815	78400815	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78400815C>G	uc001syp.2	+	8	1670	c.1497C>G	c.(1495-1497)ACC>ACG	p.T499T	NAV3_uc001syo.2_Silent_p.T499T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	499						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CAAAAAAGACCTCCAAAATTG	0.418										HNSCC(70;0.22)			49	50	---	---	---	---	PASS
ALX1	8092	broad.mit.edu	37	12	85677442	85677442	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85677442G>T	uc001tae.3	+	2	323	c.319G>T	c.(319-321)GTG>TTG	p.V107L		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	107					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		AATGTCTCCCGTGAAAGGGAT	0.483													37	35	---	---	---	---	PASS
ALX1	8092	broad.mit.edu	37	12	85677506	85677506	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85677506C>G	uc001tae.3	+	2	387	c.383C>G	c.(382-384)TCC>TGC	p.S128C		NM_006982	NP_008913	Q15699	ALX1_HUMAN	cartilage paired-class homeoprotein 1	128					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(134;0.134)		AGCAATGTATCCAGCAGTAAG	0.478													38	42	---	---	---	---	PASS
CLLU1OS	574016	broad.mit.edu	37	12	92814818	92814818	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:92814818C>T	uc001tcb.1	-	3	276	c.274G>A	c.(274-276)GAT>AAT	p.D92N	CLLU1_uc001tcc.2_5'Flank|CLLU1_uc001tcd.2_5'Flank|CLLU1_uc001tce.1_5'Flank|CLLU1_uc001tcf.2_5'Flank	NM_001025232	NP_001020403	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1	92											0						TTCTTCCCATCATCATTGCCC	0.438													242	228	---	---	---	---	PASS
ANKS1B	56899	broad.mit.edu	37	12	99225845	99225845	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99225845C>T	uc001tge.1	-	18	3265	c.2848G>A	c.(2848-2850)GAT>AAT	p.D950N	ANKS1B_uc001tgf.1_Missense_Mutation_p.D526N|ANKS1B_uc001tgk.2_Missense_Mutation_p.D247N|ANKS1B_uc010svd.1_5'UTR|ANKS1B_uc001tgd.1_Missense_Mutation_p.D176N|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_5'UTR|ANKS1B_uc001tgh.3_5'UTR|ANKS1B_uc001tgi.2_Missense_Mutation_p.D176N|ANKS1B_uc009ztr.2_Missense_Mutation_p.D176N|ANKS1B_uc001tgj.2_Missense_Mutation_p.D176N|ANKS1B_uc009ztp.2_5'UTR|ANKS1B_uc010svf.1_5'UTR|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Missense_Mutation_p.D145N|ANKS1B_uc009zts.1_Missense_Mutation_p.D176N|ANKS1B_uc001tgm.1_Missense_Mutation_p.D176N	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	950						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)		TGTGGGGGATCGTCGTGCAGC	0.418													8	2	---	---	---	---	PASS
MYBPC1	4604	broad.mit.edu	37	12	102046932	102046932	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102046932A>T	uc001tii.2	+	16	1700	c.1598A>T	c.(1597-1599)AAC>ATC	p.N533I	MYBPC1_uc001tig.2_Missense_Mutation_p.N558I|MYBPC1_uc010svq.1_Missense_Mutation_p.N520I|MYBPC1_uc001tih.2_Missense_Mutation_p.N558I|MYBPC1_uc001tij.2_Missense_Mutation_p.N533I|MYBPC1_uc010svr.1_Missense_Mutation_p.N533I|MYBPC1_uc010svs.1_Missense_Mutation_p.N533I|MYBPC1_uc010svt.1_Missense_Mutation_p.N521I|MYBPC1_uc010svu.1_Missense_Mutation_p.N514I|MYBPC1_uc001tik.2_Missense_Mutation_p.N507I	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	533	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						GATGCTGACAACACAGTGACA	0.443													41	40	---	---	---	---	PASS
PAH	5053	broad.mit.edu	37	12	103310894	103310894	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:103310894G>T	uc001tjq.1	-	2	487	c.15C>A	c.(13-15)GTC>GTA	p.V5V	PAH_uc010swc.1_Silent_p.V5V	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	5					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GGTTTTCCAGGACCGCAGTGG	0.572													36	34	---	---	---	---	PASS
STAB2	55576	broad.mit.edu	37	12	104089513	104089513	+	Splice_Site	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104089513A>T	uc001tjw.2	+	33	3661	c.3475_splice	c.e33-2	p.Q1159_splice		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor						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						TTTCCATCGCAGCAATATAAT	0.483													53	34	---	---	---	---	PASS
APPL2	55198	broad.mit.edu	37	12	105583577	105583577	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105583577C>G	uc001tlf.1	-	16	1650	c.1432G>C	c.(1432-1434)GAG>CAG	p.E478Q	APPL2_uc010swt.1_Missense_Mutation_p.E435Q|APPL2_uc001tlg.1_Missense_Mutation_p.E232Q|APPL2_uc010swu.1_Missense_Mutation_p.E484Q|APPL2_uc009zuq.2_Missense_Mutation_p.E435Q	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	478					cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						GATTCATCCTCAGTTTCACCA	0.433													37	24	---	---	---	---	PASS
NUAK1	9891	broad.mit.edu	37	12	106477667	106477667	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106477667A>T	uc001tlj.1	-	4	1934	c.554T>A	c.(553-555)CTG>CAG	p.L185Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	185	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						GTCATCGAGCAGTATATTTTC	0.502													38	38	---	---	---	---	PASS
ASCL4	121549	broad.mit.edu	37	12	108169386	108169386	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108169386C>T	uc001tmr.2	+	1	1225	c.394C>T	c.(394-396)CAG>TAG	p.Q132*		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	achaete-scute complex-like 4	131					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1						GCTGGAGCGCCAGGCCTGGGG	0.711													7	3	---	---	---	---	PASS
ANKRD13A	88455	broad.mit.edu	37	12	110450962	110450962	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110450962G>T	uc001tpx.2	+	3	521	c.262G>T	c.(262-264)GAG>TAG	p.E88*	ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Nonsense_Mutation_p.E88*|ANKRD13A_uc010sxw.1_Nonsense_Mutation_p.E88*	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13	88	ANK 2.										0						TGGCGATCCTGAGATGGTGTA	0.433													53	39	---	---	---	---	PASS
HVCN1	84329	broad.mit.edu	37	12	111099059	111099059	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111099059A>T	uc001trs.1	-	4	381	c.216T>A	c.(214-216)CCT>CCA	p.P72P	HVCN1_uc001trq.1_Silent_p.P72P|HVCN1_uc001trt.1_Silent_p.P72P|HVCN1_uc010syd.1_Silent_p.P52P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	72	Cytoplasmic (Potential).				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			skin(1)	1						GGGCAACGTCAGGGGCTGCAG	0.522													31	20	---	---	---	---	PASS
MYL2	4633	broad.mit.edu	37	12	111350900	111350900	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111350900C>G	uc001try.3	-	6	473	c.402G>C	c.(400-402)GAG>GAC	p.E134D	MYL2_uc001trx.3_Missense_Mutation_p.E115D	NM_000432	NP_000423	P10916	MLRV_HUMAN	slow cardiac myosin regulatory light chain 2	134	EF-hand 3.				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						ACCCCATTACCTCCTCCTTGG	0.587													59	67	---	---	---	---	PASS
CUX2	23316	broad.mit.edu	37	12	111744741	111744741	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111744741C>G	uc001tsa.1	+	11	1028	c.875C>G	c.(874-876)ACT>AGT	p.T292S		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	292	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						GTGAACTTCACTCTGTGCTCG	0.642													60	49	---	---	---	---	PASS
C12orf51	283450	broad.mit.edu	37	12	112743916	112743916	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112743916C>A	uc009zwc.2	-	1	123	c.105G>T	c.(103-105)GAG>GAT	p.E35D		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TCGGTGTTTTCTCATTCAGGC	0.453													26	29	---	---	---	---	PASS
GCN1L1	10985	broad.mit.edu	37	12	120586073	120586073	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120586073T>G	uc001txo.2	-	37	4637	c.4624A>C	c.(4624-4626)AAG>CAG	p.K1542Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	1542	HEAT 9.				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGTAAGCTTGGGCACAATG	0.572													45	68	---	---	---	---	PASS
DNAH10	196385	broad.mit.edu	37	12	124311314	124311314	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124311314C>T	uc001uft.3	+	24	3931	c.3906C>T	c.(3904-3906)CTC>CTT	p.L1302L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1302	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGGTTTTCTCAGGGCTCTCA	0.458													66	60	---	---	---	---	PASS
DNAH10	196385	broad.mit.edu	37	12	124352552	124352552	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124352552G>T	uc001uft.3	+	42	7076	c.7051G>T	c.(7051-7053)GGA>TGA	p.G2351*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2351					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGCTCTCTGGGAGCCTCCCT	0.483													30	18	---	---	---	---	PASS
TMEM132B	114795	broad.mit.edu	37	12	125900111	125900111	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125900111G>T	uc001uhe.1	+	3	987	c.979G>T	c.(979-981)GTG>TTG	p.V327L		NM_052907	NP_443139	Q14DG7	T132B_HUMAN	transmembrane protein 132B	327	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)		GATAACGGCAGTGAGAGTCAG	0.478													77	74	---	---	---	---	PASS
TPTE2	93492	broad.mit.edu	37	13	20025324	20025324	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20025324A>G	uc001umd.2	-	12	994	c.783T>C	c.(781-783)TAT>TAC	p.Y261Y	TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Silent_p.Y150Y|TPTE2_uc001ume.2_Silent_p.Y184Y|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	TPTE and PTEN homologous inositol lipid	261	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TGTAGACTCGATAGTGGTTTC	0.338													55	49	---	---	---	---	PASS
SACS	26278	broad.mit.edu	37	13	23915357	23915357	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23915357C>G	uc001uon.2	-	10	3247	c.2658G>C	c.(2656-2658)CAG>CAC	p.Q886H	SACS_uc001uoo.2_Missense_Mutation_p.Q739H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	886					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)		TACACAATTTCTGCAATGGCA	0.353													48	117	---	---	---	---	PASS
ATP12A	479	broad.mit.edu	37	13	25275055	25275055	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25275055A>T	uc001upp.2	+	13	2063	c.1876A>T	c.(1876-1878)ATC>TTC	p.I626F	ATP12A_uc010aaa.2_Missense_Mutation_p.I632F	NM_001676	NP_001667	P54707	AT12A_HUMAN	hydrogen/potassium-exchanging ATPase 12A	626	Cytoplasmic (Potential).				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GAGTGCAGGGATCAAGGTGGG	0.468													56	47	---	---	---	---	PASS
ATP8A2	51761	broad.mit.edu	37	13	26153025	26153025	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:26153025T>G	uc001uqk.2	+	21	1997	c.1855T>G	c.(1855-1857)TTT>GTT	p.F619V	ATP8A2_uc010tdi.1_Missense_Mutation_p.F579V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.F129V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	579	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCTGGAATACTTTGCCACGGA	0.388													16	46	---	---	---	---	PASS
KIAA0564	23078	broad.mit.edu	37	13	42161739	42161739	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:42161739C>A	uc001uyj.2	-	42	5250	c.5180G>T	c.(5179-5181)CGT>CTT	p.R1727L		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	1727	VWFA.					extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CCTGTTGAAACGGTACATGCT	0.517													49	40	---	---	---	---	PASS
ZC3H13	23091	broad.mit.edu	37	13	46563198	46563198	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46563198T>C	uc010tfw.1	-	8	985	c.979A>G	c.(979-981)ATA>GTA	p.I327V	ZC3H13_uc001vas.1_Missense_Mutation_p.I327V|ZC3H13_uc001vat.1_Missense_Mutation_p.I327V	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	327	Ser-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)		CTAGAAGATATAGGAGAATGA	0.388													29	36	---	---	---	---	PASS
CCDC70	83446	broad.mit.edu	37	13	52439998	52439998	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52439998G>T	uc001vfu.3	+	2	780	c.484G>T	c.(484-486)GCC>TCC	p.A162S	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	162	Potential.					extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAAAAGGCCCTGTGGGT	0.547													95	78	---	---	---	---	PASS
CCDC70	83446	broad.mit.edu	37	13	52439999	52439999	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52439999C>A	uc001vfu.3	+	2	781	c.485C>A	c.(484-486)GCC>GAC	p.A162D	uc010tgr.1_RNA	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70 precursor	162	Potential.					extracellular region|plasma membrane					0		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GAAGAAAAGGCCCTGTGGGTA	0.547													94	77	---	---	---	---	PASS
TDRD3	81550	broad.mit.edu	37	13	61102614	61102614	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61102614A>G	uc001via.2	+	11	1764	c.976A>G	c.(976-978)AGG>GGG	p.R326G	TDRD3_uc010aef.2_Missense_Mutation_p.R151G|TDRD3_uc001vhz.3_Missense_Mutation_p.R326G|TDRD3_uc010aeg.2_Missense_Mutation_p.R419G|TDRD3_uc001vib.3_Missense_Mutation_p.R325G	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	326					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)		AAATGATACCAGGCAGCCAAG	0.403													82	59	---	---	---	---	PASS
PCDH9	5101	broad.mit.edu	37	13	67205431	67205431	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:67205431A>G	uc001vik.2	-	4	3943	c.3251T>C	c.(3250-3252)CTT>CCT	p.L1084P	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Missense_Mutation_p.L1050P|PCDH9_uc010thl.1_Intron	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1084	Cytoplasmic (Potential).				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)		AACCAGAGGAAGAGGGTGTGA	0.552													61	57	---	---	---	---	PASS
LMO7	4008	broad.mit.edu	37	13	76432084	76432084	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:76432084A>T	uc001vjv.2	+	27	4853	c.4093A>T	c.(4093-4095)AGC>TGC	p.S1365C	LMO7_uc010thv.1_3'UTR|LMO7_uc010thw.1_3'UTR|LMO7_uc001vjx.1_RNA	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2	Error:Variant_position_missing_in_Q8WWI1_after_alignment						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)		ATGTGATGTAAGCCTCCATAC	0.403													39	56	---	---	---	---	PASS
MYCBP2	23077	broad.mit.edu	37	13	77835401	77835401	+	Nonsense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77835401G>C	uc001vkf.2	-	13	1734	c.1643C>G	c.(1642-1644)TCA>TGA	p.S548*	MYCBP2_uc010aev.2_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	548					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)		GTGTCCAACTGAGAAGTGTAC	0.428													76	72	---	---	---	---	PASS
SLITRK6	84189	broad.mit.edu	37	13	86369386	86369386	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:86369386C>A	uc001vll.1	-	2	1717	c.1258G>T	c.(1258-1260)GGT>TGT	p.G420C	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	420	Extracellular (Potential).|LRR 8.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGGTGGTTACCATTTAGATAG	0.353													48	36	---	---	---	---	PASS
SLITRK5	26050	broad.mit.edu	37	13	88329802	88329802	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:88329802G>A	uc001vln.2	+	2	2378	c.2159G>A	c.(2158-2160)GGC>GAC	p.G720D	SLITRK5_uc010tic.1_Missense_Mutation_p.G479D	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	720	Cytoplasmic (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TACGGCGGCGGCGGCGGCACG	0.652													24	23	---	---	---	---	PASS
STK24	8428	broad.mit.edu	37	13	99116047	99116047	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99116047C>G	uc001vnm.1	-	7	1098	c.863G>C	c.(862-864)CGC>CCC	p.R288P	STK24_uc001vnn.1_Missense_Mutation_p.R276P|STK24_uc010tim.1_Missense_Mutation_p.R257P	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	288					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTTTGCATTGCGTAGTATAAA	0.468													30	46	---	---	---	---	PASS
NALCN	259232	broad.mit.edu	37	13	101735197	101735197	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101735197G>T	uc001vox.1	-	33	3917	c.3728C>A	c.(3727-3729)ACA>AAA	p.T1243K		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	1243	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)					AACTGACATTGTTGCCAAAGG	0.507													54	53	---	---	---	---	PASS
POTEG	404785	broad.mit.edu	37	14	19573150	19573150	+	Intron	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19573150C>G	uc001vuz.1	+						POTEG_uc001vva.1_Intron|POTEG_uc010ahc.1_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											ovary(1)	1						GAAAGGTATACTTTTATATTC	0.318													29	195	---	---	---	---	PASS
OR11H6	122748	broad.mit.edu	37	14	20692744	20692744	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20692744C>A	uc010tlc.1	+	1	876	c.876C>A	c.(874-876)ATC>ATA	p.I292I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	292	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AGAAGATCATCACTCTGGTAT	0.443													46	176	---	---	---	---	PASS
TTC5	91875	broad.mit.edu	37	14	20768879	20768879	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20768879C>G	uc001vwt.2	-	3	340	c.283G>C	c.(283-285)GCT>CCT	p.A95P	TTC5_uc001vwu.2_5'UTR	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	95	TPR 1.				DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGCTTCACAGCCTTTGACAGA	0.537													83	168	---	---	---	---	PASS
TEP1	7011	broad.mit.edu	37	14	20845477	20845477	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20845477C>T	uc001vxe.2	-	41	6090	c.6050G>A	c.(6049-6051)GGA>GAA	p.G2017E	TEP1_uc010ahk.2_Missense_Mutation_p.G1360E|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G1909E|TEP1_uc010tlh.1_Missense_Mutation_p.G355E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2017	WD 10.				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)		AGTGGCCAGTCCTAGCACAGG	0.488													13	43	---	---	---	---	PASS
SUPT16H	11198	broad.mit.edu	37	14	21831008	21831008	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21831008G>C	uc001wao.2	-	14	1949	c.1610C>G	c.(1609-1611)ACT>AGT	p.T537S		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	chromatin-specific transcription elongation	537					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding				0	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CATTATTACAGTCTCATATTT	0.408													71	127	---	---	---	---	PASS
OR10G2	26534	broad.mit.edu	37	14	22102631	22102631	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22102631A>T	uc010tmc.1	-	1	368	c.368T>A	c.(367-369)ATG>AAG	p.M123K		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G,	123	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GTCATAGGCCATCAAGGTGTA	0.527													11	32	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	14	22217467	22217467	+	5'UTR	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22217467G>A	uc010tmf.1	+	1					uc010aip.1_Intron|uc010aiq.1_5'UTR					SubName: Full=Putative uncharacterized protein ENSP00000374943;																		TCCCAGTGGGGAGAACAATGA	0.458													41	160	---	---	---	---	PASS
MYH6	4624	broad.mit.edu	37	14	23871779	23871779	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23871779C>T	uc001wjv.2	-	12	1102	c.1035G>A	c.(1033-1035)GAG>GAA	p.E345E	MYH6_uc010akp.1_Silent_p.E345E	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	345	Myosin head-like.				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)		CAGCTTTCTCCTCTGAAGTGA	0.612													53	198	---	---	---	---	PASS
DHRS2	10202	broad.mit.edu	37	14	24112405	24112405	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24112405G>T	uc001wkt.3	+	5	912	c.465G>T	c.(463-465)CAG>CAT	p.Q155H	DHRS2_uc010aku.1_3'UTR|DHRS2_uc001wku.3_Missense_Mutation_p.Q155H|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.Q155H	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	dehydrogenase/reductase member 2 isoform 1	133					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00659)		TGCTGAGCCAGTTGCTGCCCT	0.587													51	275	---	---	---	---	PASS
IPO4	79711	broad.mit.edu	37	14	24656300	24656300	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24656300G>A	uc001wmv.1	-	7	776	c.645C>T	c.(643-645)CCC>CCT	p.P215P	IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_5'UTR|IPO4_uc001wmx.1_Silent_p.P79P|IPO4_uc001wmy.1_Silent_p.P79P|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Silent_p.P215P	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	215					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1				GBM - Glioblastoma multiforme(265;0.0087)		CCTCATCTATGGGGATCAGAG	0.547													102	344	---	---	---	---	PASS
TGM1	7051	broad.mit.edu	37	14	24731488	24731488	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24731488G>C	uc001wod.2	-	2	195	c.71C>G	c.(70-72)TCT>TGT	p.S24C	TGM1_uc010tog.1_Translation_Start_Site	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	24	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGGCTCTGGAGATGGCGTGGT	0.637													25	60	---	---	---	---	PASS
RABGGTA	5875	broad.mit.edu	37	14	24738690	24738690	+	Intron	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24738690T>C	uc001wof.2	-						RABGGTA_uc001woe.2_Intron|RABGGTA_uc001wog.2_Intron|RABGGTA_uc001woh.2_Intron|RABGGTA_uc001woi.2_Intron	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)		TCCCTGACCCTGGTTACCTTT	0.572													27	101	---	---	---	---	PASS
C14orf21	161424	broad.mit.edu	37	14	24772360	24772360	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24772360G>T	uc001wol.1	+	6	1287	c.1224G>T	c.(1222-1224)CTG>CTT	p.L408L	C14orf21_uc001wom.1_5'UTR	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	408							RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)		TCATTGCCCTGGTGGGGGCCT	0.557													32	97	---	---	---	---	PASS
NFATC4	4776	broad.mit.edu	37	14	24836417	24836417	+	5'Flank	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24836417C>A	uc001wpc.2	+						NFATC4_uc010tok.1_Missense_Mutation_p.P53T|NFATC4_uc010tol.1_Missense_Mutation_p.P53T|NFATC4_uc010alr.2_Missense_Mutation_p.P53T|NFATC4_uc010als.2_5'Flank|NFATC4_uc010tom.1_5'Flank|NFATC4_uc010ton.1_5'Flank|NFATC4_uc010too.1_5'Flank|NFATC4_uc010alt.2_5'Flank|NFATC4_uc010top.1_5'Flank|NFATC4_uc010toq.1_5'Flank|NFATC4_uc010alu.2_5'Flank|NFATC4_uc010tor.1_5'Flank|NFATC4_uc010tos.1_5'Flank|NFATC4_uc010tot.1_5'Flank|NFATC4_uc010tou.1_5'Flank|NFATC4_uc010tov.1_5'Flank|NFATC4_uc010tow.1_5'Flank|NFATC4_uc010alv.2_5'Flank|NFATC4_uc010tox.1_5'Flank	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,						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)		CTCCTCCAGCCCAGGTGACAG	0.612													12	27	---	---	---	---	PASS
CBLN3	643866	broad.mit.edu	37	14	24898088	24898088	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24898088C>A	uc001wpg.3	-	1	644	c.173G>T	c.(172-174)GGG>GTG	p.G58V	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	58						cell junction|extracellular region|synapse		p.G58G(1)		central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)		TCCCCCGGGCCCCCCTGCAGC	0.726													5	15	---	---	---	---	PASS
HEATR5A	25938	broad.mit.edu	37	14	31922470	31922470	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31922470C>T	uc010tpk.1	-						C14orf126_uc001wrj.2_Intron	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A								binding			ovary(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAAACAAAGTCAAACACATAC	0.249													24	76	---	---	---	---	PASS
ARHGAP5	394	broad.mit.edu	37	14	32560672	32560672	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:32560672G>T	uc001wrl.2	+	2	1036	c.797G>T	c.(796-798)AGA>ATA	p.R266I	ARHGAP5_uc001wrm.2_Missense_Mutation_p.R266I|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R266I|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	266					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	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)		AAAACACAGAGACAACTTGTT	0.328													76	246	---	---	---	---	PASS
AKAP6	9472	broad.mit.edu	37	14	33290637	33290637	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33290637G>A	uc001wrq.2	+	13	3788	c.3618G>A	c.(3616-3618)TTG>TTA	p.L1206L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1206					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)		ATCCTGGCTTGATGGACCTAA	0.373													30	112	---	---	---	---	PASS
NKX2-1	7080	broad.mit.edu	37	14	36987175	36987175	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36987175C>G	uc001wtt.2	-	2	765	c.424G>C	c.(424-426)GGC>CGC	p.G142R	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.G172R|NKX2-1_uc001wtv.2_Missense_Mutation_p.G142R|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	142					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			skin(1)	1	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		GAGCCCAGGCCGCCCATGCCG	0.706			A		NSCLC								6	16	---	---	---	---	PASS
LRFN5	145581	broad.mit.edu	37	14	42355819	42355819	+	Translation_Start_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42355819C>A	uc001wvm.2	+	3	1189	c.-9C>A	c.(-11--7)ACCTG>ACATG		LRFN5_uc010ana.2_Translation_Start_Site	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III							integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTCTTAAACCTGATCTACAA	0.338										HNSCC(30;0.082)			9	48	---	---	---	---	PASS
LRFN5	145581	broad.mit.edu	37	14	42356171	42356171	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42356171A>T	uc001wvm.2	+	3	1541	c.343A>T	c.(343-345)ACA>TCA	p.T115S	LRFN5_uc010ana.2_Missense_Mutation_p.T115S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	115	Extracellular (Potential).|LRR 3.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTAAAATTACAAATGATAT	0.358										HNSCC(30;0.082)			47	86	---	---	---	---	PASS
FSCB	84075	broad.mit.edu	37	14	44974026	44974026	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44974026T>A	uc001wvn.2	-	1	2474	c.2165A>T	c.(2164-2166)GAT>GTT	p.D722V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	722						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		CAGAAGCAAATCAGCTGGTGG	0.512													34	47	---	---	---	---	PASS
FANCM	57697	broad.mit.edu	37	14	45645258	45645258	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45645258C>G	uc001wwd.3	+	14	3400	c.3301C>G	c.(3301-3303)CAA>GAA	p.Q1101E	FANCM_uc010anf.2_Missense_Mutation_p.Q1075E|FANCM_uc001wwe.3_Missense_Mutation_p.Q637E|FANCM_uc010ang.2_Missense_Mutation_p.Q315E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1101					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						CAATCGTGTTCAAATACACAG	0.348								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				49	74	---	---	---	---	PASS
RPL10L	140801	broad.mit.edu	37	14	47120699	47120699	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47120699C>A	uc001wwg.2	-	1	330	c.241G>T	c.(241-243)GGC>TGC	p.G81C		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	81					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1						CCATCTCTGCCACAACTTTTC	0.537													16	66	---	---	---	---	PASS
MAP4K5	11183	broad.mit.edu	37	14	50909507	50909507	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50909507C>T	uc001wya.2	-	21	1827	c.1507G>A	c.(1507-1509)GAT>AAT	p.D503N	MAP4K5_uc001wyb.2_Missense_Mutation_p.D503N|MAP4K5_uc010anv.1_Missense_Mutation_p.D503N|MAP4K5_uc001wyc.1_Missense_Mutation_p.D177N	NM_006575	NP_006566	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase	503					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(1)	1	all_epithelial(31;0.000415)|Breast(41;0.0102)					GGACAGCCATCAAAAACTTTT	0.249													26	62	---	---	---	---	PASS
PYGL	5836	broad.mit.edu	37	14	51378992	51378992	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51378992C>A	uc001wyu.2	-	14	1777	c.1650G>T	c.(1648-1650)CTG>CTT	p.L550L	PYGL_uc010tqq.1_Silent_p.L516L|PYGL_uc001wyv.2_Silent_p.L224L	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	550					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACTCCGTCTCCAGGAACTGAG	0.443													91	156	---	---	---	---	PASS
CGRRF1	10668	broad.mit.edu	37	14	55004942	55004942	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55004942G>T	uc001xay.2	+	6	931	c.840G>T	c.(838-840)GGG>GGT	p.G280G	CGRRF1_uc001xaz.2_RNA	NM_006568	NP_006559	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	280	RING-type.				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			ovary(1)	1						GCCAGAATGGGACTGTGAACT	0.473													36	75	---	---	---	---	PASS
RTN1	6252	broad.mit.edu	37	14	60193658	60193658	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60193658G>T	uc001xen.1	-	3	1953	c.1744C>A	c.(1744-1746)CTG>ATG	p.L582M	RTN1_uc001xem.1_Missense_Mutation_p.L162M	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	582					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGAGAAACAGCAGTGGGGGC	0.582													4	16	---	---	---	---	PASS
SYT16	83851	broad.mit.edu	37	14	62462806	62462806	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62462806G>T	uc001xfu.1	+	1	266	c.69G>T	c.(67-69)CGG>CGT	p.R23R	SYT16_uc010tsd.1_Silent_p.R23R	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	synaptotagmin XIV-like	23										central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGATATCTCGGGTTTATGAAG	0.453													30	69	---	---	---	---	PASS
RHOJ	57381	broad.mit.edu	37	14	63749907	63749907	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63749907C>A	uc001xgb.1	+	4	914	c.471C>A	c.(469-471)TAC>TAA	p.Y157*		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	157					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CTCTCACTTACGAGCATGGTG	0.413													42	55	---	---	---	---	PASS
RAD51L1	5890	broad.mit.edu	37	14	68290268	68290268	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68290268G>T	uc001xkf.1	+	2	72	c.8G>T	c.(7-9)AGC>ATC	p.S3I	RAD51L1_uc010aqq.2_Missense_Mutation_p.S3I|RAD51L1_uc001xkd.2_Missense_Mutation_p.S3I|RAD51L1_uc010aqr.2_5'UTR|RAD51L1_uc001xke.2_Missense_Mutation_p.S3I|RAD51L1_uc010aqs.1_Missense_Mutation_p.S3I|RAD51L1_uc001xkg.1_Missense_Mutation_p.S3I	NM_133509	NP_598193	O15315	RA51B_HUMAN	RAD51-like 1 isoform 3	3					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity				0				UCEC - Uterine corpus endometrioid carcinoma (185;0.163)|all cancers(60;3.9e-06)|OV - Ovarian serous cystadenocarcinoma(108;0.000103)|BRCA - Breast invasive adenocarcinoma(234;0.000421)		GGCATGGGTAGCAAGAAACTA	0.348			T	HMGA2	lipoma|uterine leiomyoma			Direct_reversal_of_damage|Homologous_recombination					35	80	---	---	---	---	PASS
ACTN1	87	broad.mit.edu	37	14	69345793	69345793	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:69345793C>A	uc001xkl.2	-						ACTN1_uc001xkk.2_Intron|ACTN1_uc010ttb.1_Intron|ACTN1_uc001xkm.2_Intron|ACTN1_uc001xkn.2_Intron|ACTN1_uc010ttc.1_Intron	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b						focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GATCCTGGGGCCGCGGTGCGC	0.667													89	128	---	---	---	---	PASS
SLC8A3	6547	broad.mit.edu	37	14	70634430	70634430	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70634430G>A	uc001xly.2	-	2	1464	c.710C>T	c.(709-711)ACT>ATT	p.T237I	SLC8A3_uc001xlw.2_Missense_Mutation_p.T237I|SLC8A3_uc001xlx.2_Missense_Mutation_p.T237I|SLC8A3_uc001xlz.2_Missense_Mutation_p.T237I|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	237	Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAAGAAGAGAGTGAGGAGGCC	0.493													39	59	---	---	---	---	PASS
SLC8A3	6547	broad.mit.edu	37	14	70634971	70634971	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70634971C>A	uc001xly.2	-	2	923	c.169G>T	c.(169-171)GGT>TGT	p.G57C	SLC8A3_uc001xlw.2_Missense_Mutation_p.G57C|SLC8A3_uc001xlx.2_Missense_Mutation_p.G57C|SLC8A3_uc001xlz.2_Missense_Mutation_p.G57C|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	57	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGATGACACCCTCCTTGCAG	0.547													24	43	---	---	---	---	PASS
ADAM21	8747	broad.mit.edu	37	14	70925091	70925091	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70925091A>T	uc001xmd.2	+	1	875	c.875A>T	c.(874-876)CAT>CTT	p.H292L		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	292	Peptidase M12B.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGCTACAGCATGATGCTGCA	0.383													71	124	---	---	---	---	PASS
MAP3K9	4293	broad.mit.edu	37	14	71215569	71215569	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71215569C>A	uc001xmm.2	-	5	1303	c.1303G>T	c.(1303-1305)GAC>TAC	p.D435Y	MAP3K9_uc010ttk.1_Missense_Mutation_p.D172Y|MAP3K9_uc001xmk.2_Missense_Mutation_p.D129Y|MAP3K9_uc001xml.2_Missense_Mutation_p.D435Y	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	435	Leucine-zipper 1.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGAGTTGGTCAAACATCTCC	0.363													35	138	---	---	---	---	PASS
PCNX	22990	broad.mit.edu	37	14	71479701	71479701	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71479701G>T	uc001xmo.2	+	11	3225	c.2779_splice	c.e11-1	p.L927_splice	PCNX_uc010are.1_Intron|PCNX_uc010arf.1_5'Flank	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1							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)		CTTTCTTTTAGCTCTCTCTCC	0.308													52	82	---	---	---	---	PASS
SIPA1L1	26037	broad.mit.edu	37	14	72138213	72138213	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72138213T>C	uc001xms.2	+	8	2981	c.2633T>C	c.(2632-2634)TTA>TCA	p.L878S	SIPA1L1_uc001xmt.2_Missense_Mutation_p.L878S|SIPA1L1_uc001xmu.2_Missense_Mutation_p.L878S|SIPA1L1_uc001xmv.2_Missense_Mutation_p.L878S|SIPA1L1_uc010ttm.1_Missense_Mutation_p.L353S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	878					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)		GACTGCCTTTTAGGGATCTCC	0.493													51	140	---	---	---	---	PASS
SIPA1L1	26037	broad.mit.edu	37	14	72205015	72205015	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72205015G>A	uc001xms.2	+	21	5592	c.5244G>A	c.(5242-5244)CTG>CTA	p.L1748L	SIPA1L1_uc001xmt.2_Silent_p.L1727L|SIPA1L1_uc001xmu.2_Silent_p.L1726L|SIPA1L1_uc001xmv.2_Silent_p.L1747L|SIPA1L1_uc010ttm.1_Silent_p.L1201L|SIPA1L1_uc001xmw.2_Silent_p.L513L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1748	Potential.				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)		AAGGTATGCTGAAGATGCTTC	0.458													46	61	---	---	---	---	PASS
ENTPD5	957	broad.mit.edu	37	14	74443726	74443726	+	Splice_Site	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74443726C>G	uc010tuo.1	-	8	864	c.553_splice	c.e8+1	p.G185_splice	ENTPD5_uc001xpi.2_Splice_Site_p.G185_splice	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5						'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGATGTATTACCTGTCAGAAA	0.363													43	80	---	---	---	---	PASS
PROX2	283571	broad.mit.edu	37	14	75330491	75330491	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75330491G>C	uc001xqr.1	-	1	47	c.47C>G	c.(46-48)TCC>TGC	p.S16C	PROX2_uc001xqq.1_5'UTR	NM_001080408	NP_001073877	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	16					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGCTAGGTGGGAGCAGATCTG	0.562													13	92	---	---	---	---	PASS
NGB	58157	broad.mit.edu	37	14	77732943	77732943	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77732943G>T	uc001xtg.1	-	4	767	c.392C>A	c.(391-393)GCT>GAT	p.A131D		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	131	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GCTCCAGGCAGCCCGTGTGGC	0.637													13	65	---	---	---	---	PASS
NRXN3	9369	broad.mit.edu	37	14	79434664	79434664	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79434664C>T	uc001xun.2	+	11	2489	c.1998C>T	c.(1996-1998)AGC>AGT	p.S666S	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.S791S	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	1039	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTCATCGGAGCGGACAGATCG	0.522													13	94	---	---	---	---	PASS
SEL1L	6400	broad.mit.edu	37	14	81956810	81956810	+	Splice_Site	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81956810C>G	uc010tvv.1	-	13	1372	c.1255_splice	c.e13-1	p.M419_splice		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like precursor						Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCGAATACATCTGGAAAACAG	0.398													21	86	---	---	---	---	PASS
GPR65	8477	broad.mit.edu	37	14	88478168	88478168	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88478168C>A	uc001xvv.2	+	2	1507	c.977C>A	c.(976-978)TCT>TAT	p.S326Y		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	326	Cytoplasmic (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0						CTTTCTGTGTCTACAAAAGAT	0.343													16	62	---	---	---	---	PASS
KCNK10	54207	broad.mit.edu	37	14	88652436	88652436	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88652436T>A	uc001xwo.2	-	7	1517	c.1060A>T	c.(1060-1062)ACA>TCA	p.T354S	KCNK10_uc001xwm.2_Missense_Mutation_p.T359S|KCNK10_uc001xwn.2_Missense_Mutation_p.T359S	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	354	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			ovary(2)|skin(2)|pancreas(1)	5						CTTCGCCGTGTCTCCCGGAAC	0.632													7	27	---	---	---	---	PASS
KCNK10	54207	broad.mit.edu	37	14	88654339	88654339	+	Missense_Mutation	SNP	C	G	G	rs149714386		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88654339C>G	uc001xwo.2	-	6	1425	c.968G>C	c.(967-969)CGG>CCG	p.R323P	KCNK10_uc001xwm.2_Missense_Mutation_p.R328P|KCNK10_uc001xwn.2_Missense_Mutation_p.R328P	NM_021161	NP_066984	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	323	Cytoplasmic (Potential).				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R323Q(1)		ovary(2)|skin(2)|pancreas(1)	5						GGACAGAACCCGTAGCCAATC	0.473													48	111	---	---	---	---	PASS
SLC24A4	123041	broad.mit.edu	37	14	92953010	92953010	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92953010G>A	uc001yak.2	+	14	1396	c.1372G>A	c.(1372-1374)GTG>ATG	p.V458M	SLC24A4_uc001yai.2_Missense_Mutation_p.V411M|SLC24A4_uc010twm.1_Missense_Mutation_p.V456M|SLC24A4_uc001yaj.2_Missense_Mutation_p.V439M|SLC24A4_uc010auj.2_Missense_Mutation_p.V347M|SLC24A4_uc010twn.1_Missense_Mutation_p.V231M|SLC24A4_uc001yan.2_Missense_Mutation_p.V169M	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	475	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)		CATTCTGCAGGTGACTATTAT	0.463													12	48	---	---	---	---	PASS
UBR7	55148	broad.mit.edu	37	14	93686750	93686750	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93686750C>G	uc001ybm.3	+	9	1352	c.1116C>G	c.(1114-1116)CTC>CTG	p.L372L	UBR7_uc001ybn.3_Silent_p.L296L|UBR7_uc010auq.2_Silent_p.L221L	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin	372							ubiquitin-protein ligase activity|zinc ion binding				0						AAGTGGAACTCATTTGTGGTA	0.383													47	144	---	---	---	---	PASS
SERPINA4	5267	broad.mit.edu	37	14	95033367	95033367	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95033367A>G	uc001ydk.2	+	3	776	c.710A>G	c.(709-711)GAG>GGG	p.E237G	SERPINA4_uc010avd.2_Missense_Mutation_p.E274G|SERPINA4_uc001ydl.2_Missense_Mutation_p.E237G	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	237					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)		TATGTTGATGAGAACACAACA	0.502													44	66	---	---	---	---	PASS
ATG2B	55102	broad.mit.edu	37	14	96777530	96777530	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96777530T>C	uc001yfi.2	-	28	4450	c.4085A>G	c.(4084-4086)TAC>TGC	p.Y1362C		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1362										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCTTGCAATGTACTGAATGAG	0.468													106	156	---	---	---	---	PASS
DYNC1H1	1778	broad.mit.edu	37	14	102510221	102510221	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102510221G>T	uc001yks.2	+	70	12687	c.12523G>T	c.(12523-12525)GAG>TAG	p.E4175*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4175	AAA 6 (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						GTCTCCCAACGAGCGTGCCCG	0.498													28	42	---	---	---	---	PASS
TDRD9	122402	broad.mit.edu	37	14	104472878	104472878	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104472878A>G	uc001yom.3	+	16	1896	c.1866A>G	c.(1864-1866)GAA>GAG	p.E622E	TDRD9_uc001yon.3_Silent_p.E360E	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	622					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(2)|central_nervous_system(1)	3		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCTAGATGAATGTCTTATTA	0.338													23	38	---	---	---	---	PASS
AHNAK2	113146	broad.mit.edu	37	14	105409082	105409082	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105409082C>A	uc010axc.1	-	7	12826	c.12706G>T	c.(12706-12708)GTG>TTG	p.V4236L	AHNAK2_uc001ypx.2_Missense_Mutation_p.V4136L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4236						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGACATCCACCTGGGGGCCC	0.652													125	155	---	---	---	---	PASS
AHNAK2	113146	broad.mit.edu	37	14	105414415	105414415	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105414415G>A	uc010axc.1	-	7	7493	c.7373C>T	c.(7372-7374)GCC>GTC	p.A2458V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A2358V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2458						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCAGCTTGGCTCCCGGGGC	0.622													109	135	---	---	---	---	PASS
ADAM6	8755	broad.mit.edu	37	14	106174975	106174975	+	RNA	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106174975G>T	uc010tyt.1	-	3631		c.59359C>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron					Parts of antibodies, mostly variable regions.												0						AGGCTCAGCGGGAAGACCTTG	0.537													9	59	---	---	---	---	PASS
ADAM6	8755	broad.mit.edu	37	14	106815966	106815966	+	RNA	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106815966G>C	uc010tyt.1	-	342		c.13193C>G								Parts of antibodies, mostly variable regions.												0						GAGTCTCAGGGACCTCCCAGG	0.597													35	127	---	---	---	---	PASS
ADAM6	8755	broad.mit.edu	37	14	106829886	106829886	+	RNA	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106829886G>T	uc010tyt.1	-	323		c.12619C>A			uc001ysx.1_RNA					Parts of antibodies, mostly variable regions.												0						CTGCACCTGGGACAGGACCCC	0.562													14	46	---	---	---	---	PASS
ADAM6	8755	broad.mit.edu	37	14	106967359	106967359	+	RNA	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106967359G>T	uc010tyt.1	-	201		c.9082C>A								Parts of antibodies, mostly variable regions.												0						AGCACCTGCGGAGAGGACACA	0.562													34	109	---	---	---	---	PASS
ADAM6	8755	broad.mit.edu	37	14	107035110	107035110	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107035110G>T	uc010tyt.1	-						uc001ysz.2_Intron					Parts of antibodies, mostly variable regions.												0						CCCTCGGCAGGACTGACCTTG	0.592													6	29	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	15	22466118	22466118	+	5'Flank	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22466118T>A	uc001yui.1	-											Homo sapiens clone IgA5728-2 immunoglobulin A heavy chain mRNA, partial cds.																		GCATGTAGGCTGTGCTCGAAG	0.507													68	271	---	---	---	---	PASS
TUBGCP5	114791	broad.mit.edu	37	15	22867508	22867508	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22867508G>T	uc001yur.3	+	19	2714	c.2584G>T	c.(2584-2586)GAA>TAA	p.E862*	TUBGCP5_uc001yuq.2_Nonsense_Mutation_p.E862*	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	862					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			skin(1)	1		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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CCTTATACATGAACAAGACAC	0.408													52	50	---	---	---	---	PASS
MAGEL2	54551	broad.mit.edu	37	15	23889233	23889233	+	Silent	SNP	C	G	G	rs140288382	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23889233C>G	uc001ywj.3	-	1	1943	c.1848G>C	c.(1846-1848)GCG>GCC	p.A616A		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)		ACTCTGCGAGCGCTTCAAGGT	0.557													12	82	---	---	---	---	PASS
PAR4	347745	broad.mit.edu	37	15	25453293	25453293	+	Intron	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25453293A>G	uc001yzk.1	+						PAR4_uc010ayo.1_Intron|SNORD115-20_uc001yzq.1_Intron|SNORD115-22_uc001yzr.1_5'Flank					Homo sapiens clone Rt-13I SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0						CATGCTCAATAGGATTACGCT	0.517													56	279	---	---	---	---	PASS
PAR4	347745	broad.mit.edu	37	15	25457009	25457009	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25457009G>T	uc001yzk.1	+						PAR4_uc010ayo.1_Intron|SNORD115-20_uc001yzq.1_Intron|PAR4_uc001yzs.2_RNA|uc001yzt.1_5'Flank|HBII-52-24_uc010ayp.1_5'Flank					Homo sapiens clone Rt-13I SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0						CATGCTCAATGATTACGCTGA	0.522													153	177	---	---	---	---	PASS
GABRB3	2562	broad.mit.edu	37	15	26806217	26806217	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26806217G>T	uc001zaz.2	-	8	1084	c.942C>A	c.(940-942)TTC>TTA	p.F314L	GABRB3_uc010uae.1_Missense_Mutation_p.F229L|GABRB3_uc001zba.2_Missense_Mutation_p.F314L|GABRB3_uc001zbb.2_Missense_Mutation_p.F370L	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	314	Helical; (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACACAAAGACGAAGCAGCCCA	0.483													56	80	---	---	---	---	PASS
GABRG3	2567	broad.mit.edu	37	15	27271968	27271968	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27271968G>T	uc001zbg.1	+	3	436	c.270G>T	c.(268-270)ATG>ATT	p.M90I	GABRG3_uc001zbf.2_Missense_Mutation_p.M90I	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	90	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CAATAAACATGGTAAGAAGCT	0.358													6	41	---	---	---	---	PASS
OCA2	4948	broad.mit.edu	37	15	28234752	28234752	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28234752C>A	uc001zbh.3	-	11	1287	c.1177G>T	c.(1177-1179)GGC>TGC	p.G393C	OCA2_uc010ayv.2_Missense_Mutation_p.G369C	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	393	Helical; (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATTACCATGCCAAACAGCAGG	0.552									Oculocutaneous_Albinism				14	45	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	33927967	33927967	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33927967C>A	uc001zhi.2	+	26	3398	c.3328C>A	c.(3328-3330)CCT>ACT	p.P1110T	RYR3_uc010bar.2_Missense_Mutation_p.P1110T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1110	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGCTGTCGACCTGATGTCGA	0.512													9	23	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	33927968	33927968	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33927968C>A	uc001zhi.2	+	26	3399	c.3329C>A	c.(3328-3330)CCT>CAT	p.P1110H	RYR3_uc010bar.2_Missense_Mutation_p.P1110H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1110	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCTGTCGACCTGATGTCGAG	0.512													9	24	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	33928020	33928020	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33928020G>T	uc001zhi.2	+	26	3451	c.3381G>T	c.(3379-3381)AGG>AGT	p.R1127S	RYR3_uc010bar.2_Missense_Mutation_p.R1127S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1127	B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGCAACAGGGTGAGTTTAT	0.502													4	11	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	33952004	33952004	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33952004G>A	uc001zhi.2	+	33	4462	c.4392G>A	c.(4390-4392)CTG>CTA	p.L1464L	RYR3_uc010bar.2_Silent_p.L1464L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1464	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGGAAAGCTGAAGGTATTTA	0.438													12	28	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	33952493	33952493	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33952493C>G	uc001zhi.2	+	34	4561	c.4491C>G	c.(4489-4491)CCC>CCG	p.P1497P	RYR3_uc010bar.2_Silent_p.P1497P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1497	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATCCAGCCCGTGCTCTGGA	0.632													3	2	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	34023743	34023743	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34023743C>A	uc001zhi.2	+	48	7342	c.7272C>A	c.(7270-7272)CTC>CTA	p.L2424L	RYR3_uc010bar.2_Silent_p.L2424L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2424	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTCCCGCTCCTCACAAGAT	0.488													22	30	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	34080547	34080547	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34080547G>T	uc001zhi.2	+	67	9788	c.9718G>T	c.(9718-9720)GGC>TGC	p.G3240C	RYR3_uc010bar.2_Missense_Mutation_p.G3240C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3240					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)		GAAAGCCGATGGCAAAGGGGA	0.567													74	116	---	---	---	---	PASS
RYR3	6263	broad.mit.edu	37	15	34109111	34109111	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34109111A>G	uc001zhi.2	+	75	10621	c.10551A>G	c.(10549-10551)ATA>ATG	p.I3517M	RYR3_uc010bar.2_Missense_Mutation_p.I3512M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3517					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)		GATTTTGGATAGAAACAGAGG	0.458													16	13	---	---	---	---	PASS
ACTC1	70	broad.mit.edu	37	15	35082705	35082705	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35082705G>T	uc001ziu.1	-	7	1285	c.1042C>A	c.(1042-1044)CTG>ATG	p.L348M	uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	cardiac muscle alpha actin 1 proprotein	348					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGAGAGGCCAGGATGGAGCCC	0.483													33	140	---	---	---	---	PASS
FAM98B	283742	broad.mit.edu	37	15	38765759	38765759	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38765759G>T	uc001zkb.1	+	5	620	c.585G>T	c.(583-585)CTG>CTT	p.L195L	FAM98B_uc001zkc.2_Silent_p.L195L	NM_001042429	NP_001035894	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	195						tRNA-splicing ligase complex	protein binding			ovary(1)	1		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		AACCACTGCTGAAAATGGATT	0.274													35	52	---	---	---	---	PASS
BUB1B	701	broad.mit.edu	37	15	40498662	40498662	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40498662G>T	uc001zkx.3	+							NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AAGCTGAGGTGATTGGGGATT	0.363			Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				31	62	---	---	---	---	PASS
BAHD1	22893	broad.mit.edu	37	15	40751488	40751488	+	Nonsense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40751488G>A	uc001zlu.2	+	2	896	c.825G>A	c.(823-825)TGG>TGA	p.W275*	BAHD1_uc001zlt.2_Nonsense_Mutation_p.W275*|BAHD1_uc010bbp.1_Nonsense_Mutation_p.W275*|BAHD1_uc001zlv.2_Nonsense_Mutation_p.W275*	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	275	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACCTGGCTGGCAAGGCTGCC	0.632													8	72	---	---	---	---	PASS
PPIP5K1	9677	broad.mit.edu	37	15	43831688	43831688	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43831688C>G	uc001zrw.2	-	30	3662	c.3479G>C	c.(3478-3480)CGC>CCC	p.R1160P	PPIP5K1_uc001zrx.1_Missense_Mutation_p.R1093P|PPIP5K1_uc001zru.2_Missense_Mutation_p.R1135P|PPIP5K1_uc001zry.3_Missense_Mutation_p.R1135P|PPIP5K1_uc001zrv.2_Intron	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1160					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0						CTTCTCAGAGCGCTGCTGGAG	0.507													3	11	---	---	---	---	PASS
SPG11	80208	broad.mit.edu	37	15	44890865	44890865	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44890865C>A	uc001ztx.2	-	22	3887	c.3856G>T	c.(3856-3858)GAA>TAA	p.E1286*	SPG11_uc010ueh.1_Nonsense_Mutation_p.E1286*|SPG11_uc010uei.1_Nonsense_Mutation_p.E1286*|SPG11_uc001zty.1_Nonsense_Mutation_p.E15*	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	1286	Cytoplasmic (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAGCATCTTCATTTCTGCAC	0.418													58	87	---	---	---	---	PASS
DUOX2	50506	broad.mit.edu	37	15	45398789	45398789	+	Nonsense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45398789T>A	uc010bea.2	-	16	2085	c.1882A>T	c.(1882-1884)AAG>TAG	p.K628*	DUOX2_uc001zun.2_Nonsense_Mutation_p.K628*	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	628	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGTAGCTTCTTGTGTTCTCGG	0.562													52	165	---	---	---	---	PASS
GABPB1	2553	broad.mit.edu	37	15	50581845	50581845	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50581845C>A	uc001zyb.2	-	7	1178	c.754G>T	c.(754-756)GTT>TTT	p.V252F	GABPB1_uc001zya.2_Missense_Mutation_p.V240F|GABPB1_uc010ufg.1_Missense_Mutation_p.V176F|GABPB1_uc001zyc.2_Missense_Mutation_p.V240F|GABPB1_uc001zyd.2_Missense_Mutation_p.V240F|GABPB1_uc001zye.2_Missense_Mutation_p.V252F|GABPB1_uc001zyf.2_Missense_Mutation_p.V239F	NM_005254	NP_005245	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta	252					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)	1						TCTGCAGTAACTACTTCTTCT	0.378													17	59	---	---	---	---	PASS
CYP19A1	1588	broad.mit.edu	37	15	51503227	51503227	+	Missense_Mutation	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51503227A>C	uc001zyz.3	-	11	1541	c.1290T>G	c.(1288-1290)TTT>TTG	p.F430L	CYP19A1_uc001zza.3_Missense_Mutation_p.F430L	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	430					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				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)	GCCCAAAGCCAAATGGCTGAA	0.448													35	74	---	---	---	---	PASS
DMXL2	23312	broad.mit.edu	37	15	51757049	51757049	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51757049C>A	uc002abf.2	-	32	7853	c.7628G>T	c.(7627-7629)GGT>GTT	p.G2543V	DMXL2_uc002abd.2_Missense_Mutation_p.G614V|DMXL2_uc010ufy.1_Missense_Mutation_p.G2544V|DMXL2_uc010bfa.2_Missense_Mutation_p.G1907V	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2543						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		CACAGCAATACCTAATGGTGA	0.343													66	85	---	---	---	---	PASS
UNC13C	440279	broad.mit.edu	37	15	54527271	54527271	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54527271C>G	uc002ack.2	+	4	3115	c.3115C>G	c.(3115-3117)CGC>GGC	p.R1039G		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1039					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)		GCCGGATCTTCGCAGAAAAAA	0.358													24	51	---	---	---	---	PASS
PRTG	283659	broad.mit.edu	37	15	55970146	55970146	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55970146C>T	uc002adg.2	-	8	1278	c.1230G>A	c.(1228-1230)CTG>CTA	p.L410L	PRTG_uc002adh.2_5'Flank	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	410	Ig-like 4.				multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCACTACAGTCAGTCTGGCTC	0.418													58	67	---	---	---	---	PASS
HERC1	8925	broad.mit.edu	37	15	63922665	63922665	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63922665C>T	uc002amp.2	-	69	13114	c.12966G>A	c.(12964-12966)CAG>CAA	p.Q4322Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	4322	RCC1 14.|WD 11.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AAATATTTACCTGCCCTTCTG	0.418													73	260	---	---	---	---	PASS
CORO2B	10391	broad.mit.edu	37	15	69011060	69011060	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69011060G>T	uc002arj.3	+	9	1020	c.991G>T	c.(991-993)GAT>TAT	p.D331Y	CORO2B_uc010bic.2_Missense_Mutation_p.D326Y|CORO2B_uc002ark.2_Missense_Mutation_p.D98Y	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	331					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						GCACGGGCTGGATGTGTCAGC	0.597													11	50	---	---	---	---	PASS
CORO2B	10391	broad.mit.edu	37	15	69018240	69018240	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69018240C>G	uc002arj.3	+	12	1399	c.1370C>G	c.(1369-1371)GCC>GGC	p.A457G	CORO2B_uc010bic.2_Missense_Mutation_p.A452G|CORO2B_uc002ark.2_Missense_Mutation_p.A224G	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	457	Potential.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			ovary(3)|skin(2)|large_intestine(1)	6						GAGGAGCTGGCCCAGAAGGAC	0.577													30	66	---	---	---	---	PASS
LRRC49	54839	broad.mit.edu	37	15	71256238	71256238	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:71256238G>T	uc002asw.2	+	9	1135	c.888G>T	c.(886-888)ATG>ATT	p.M296I	LRRC49_uc002asu.2_Missense_Mutation_p.M286I|LRRC49_uc002asx.2_Missense_Mutation_p.M252I|LRRC49_uc010ukf.1_Missense_Mutation_p.M301I|LRRC49_uc002asy.2_Missense_Mutation_p.M2I|LRRC49_uc002asz.2_Missense_Mutation_p.M268I	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	296	LRRCT.					cytoplasm|microtubule				ovary(1)	1						AGAATATGATGCAGCTGCGCC	0.468													40	71	---	---	---	---	PASS
MYO9A	4649	broad.mit.edu	37	15	72324912	72324912	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72324912C>A	uc002atl.3	-	3	1331	c.858G>T	c.(856-858)AAG>AAT	p.K286N	MYO9A_uc010biq.2_5'UTR|MYO9A_uc002ato.2_Missense_Mutation_p.K286N|MYO9A_uc002atn.1_Missense_Mutation_p.K286N	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	286	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TATGAGCTGTCTTTGCATTTC	0.358													24	80	---	---	---	---	PASS
ISLR2	57611	broad.mit.edu	37	15	74425228	74425228	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74425228G>T	uc002axd.2	+	4	902	c.133G>T	c.(133-135)GTG>TTG	p.V45L	ISLR2_uc002axe.2_Missense_Mutation_p.V45L|ISLR2_uc010bjg.2_Missense_Mutation_p.V45L|ISLR2_uc010bjf.2_Missense_Mutation_p.V45L	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	45	Extracellular (Potential).|LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						GTTGCGTGAGGTGCCGGAAGG	0.637													26	107	---	---	---	---	PASS
CLK3	1198	broad.mit.edu	37	15	74912388	74912388	+	Missense_Mutation	SNP	G	T	T	rs146399462	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74912388G>T	uc010uln.1	+	3	1096	c.635G>T	c.(634-636)CGC>CTC	p.R212L	CLK3_uc002ayg.3_Missense_Mutation_p.R64L|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R212L|CLK3_uc002ayj.3_Missense_Mutation_p.R64L|CLK3_uc002ayk.3_5'UTR	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	212	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2						TACCGGGAGCGCCGTGACAGC	0.607													25	123	---	---	---	---	PASS
C15orf39	56905	broad.mit.edu	37	15	75499670	75499670	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75499670A>T	uc002azp.3	+	2	1601	c.1281A>T	c.(1279-1281)TCA>TCT	p.S427S	C15orf39_uc002azq.3_Silent_p.S427S|C15orf39_uc002azr.3_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	hypothetical protein LOC56905	427											0						AGCCCTGCTCAGAGCCTGTGA	0.642													22	55	---	---	---	---	PASS
CSPG4	1464	broad.mit.edu	37	15	75968836	75968836	+	Silent	SNP	G	T	T	rs150399169		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75968836G>T	uc002baw.2	-	10	6117	c.6024C>A	c.(6022-6024)GGC>GGA	p.G2008G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	2008	Extracellular (Potential).|CSPG 14.|Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						AGACCACCTCGCCCTGGTCTA	0.597													84	103	---	---	---	---	PASS
CSPG4	1464	broad.mit.edu	37	15	75979665	75979665	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75979665G>T	uc002baw.2	-	3	3834	c.3741C>A	c.(3739-3741)ATC>ATA	p.I1247I		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1247	CSPG 8.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						GGAAGACGTAGATCTTCTTGT	0.617													33	136	---	---	---	---	PASS
CSPG4	1464	broad.mit.edu	37	15	75982632	75982632	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75982632G>T	uc002baw.2	-	3	867	c.774C>A	c.(772-774)GGC>GGA	p.G258G		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	258	Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						CCCGCAGGTGGCCCTCAAATA	0.617													11	51	---	---	---	---	PASS
ETFA	2108	broad.mit.edu	37	15	76566836	76566836	+	Splice_Site	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76566836C>T	uc002bbt.2	-	9	815	c.734_splice	c.e9-1	p.V245_splice	ETFA_uc010bkq.1_Splice_Site_p.V196_splice|ETFA_uc002bbu.1_Splice_Site_p.V245_splice	NM_000126	NP_000117	P13804	ETFA_HUMAN	electron transfer flavoprotein, alpha						respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity				0						GAAGCACCAACTAAGGGGAAA	0.363													16	39	---	---	---	---	PASS
LINGO1	84894	broad.mit.edu	37	15	77907420	77907420	+	Missense_Mutation	SNP	C	G	G	rs111741384		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77907420C>G	uc002bct.1	-	2	881	c.829G>C	c.(829-831)GCT>CCT	p.A277P	LINGO1_uc002bcu.1_Missense_Mutation_p.A271P	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	277	Extracellular (Potential).|LRR 8.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						TAGGGCACAGCGGTCAGATTG	0.577													21	68	---	---	---	---	PASS
RASGRF1	5923	broad.mit.edu	37	15	79277507	79277507	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79277507C>A	uc002beq.2	-	24	3679	c.3304G>T	c.(3304-3306)GAC>TAC	p.D1102Y	RASGRF1_uc002bep.2_Missense_Mutation_p.D1086Y|RASGRF1_uc010blm.1_Missense_Mutation_p.D1011Y|RASGRF1_uc002ber.3_Missense_Mutation_p.D1086Y|RASGRF1_uc002beo.2_Missense_Mutation_p.D318Y	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	1104	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6						GCGTTGATGTCCTCATTGCGG	0.373													73	89	---	---	---	---	PASS
NTRK3	4916	broad.mit.edu	37	15	88476298	88476298	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88476298G>C	uc002bme.1	-	15	1996	c.1834C>G	c.(1834-1836)CCC>GCC	p.P612A	NTRK3_uc002bmh.2_Missense_Mutation_p.P604A|NTRK3_uc002bmf.1_Missense_Mutation_p.P612A|NTRK3_uc010upl.1_Missense_Mutation_p.P514A|NTRK3_uc010bnh.1_Missense_Mutation_p.P604A	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	612	Cytoplasmic (Potential).|Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGATGAGGGGGTCCCCATCG	0.557			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			22	36	---	---	---	---	PASS
NTRK3	4916	broad.mit.edu	37	15	88669594	88669594	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88669594G>T	uc002bme.1	-	12	1466	c.1304C>A	c.(1303-1305)GCA>GAA	p.A435E	NTRK3_uc002bmh.2_Missense_Mutation_p.A427E|NTRK3_uc002bmf.1_Missense_Mutation_p.A435E|NTRK3_uc010upl.1_Missense_Mutation_p.A337E|NTRK3_uc010bnh.1_Missense_Mutation_p.A427E|NTRK3_uc002bmg.2_Missense_Mutation_p.A435E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	435	Helical; (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGTCCAACTGCTATGGATAC	0.443			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			49	58	---	---	---	---	PASS
NTRK3	4916	broad.mit.edu	37	15	88679775	88679775	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:88679775T>A	uc002bme.1	-	7	850	c.688A>T	c.(688-690)ACT>TCT	p.T230S	NTRK3_uc002bmh.2_Missense_Mutation_p.T230S|NTRK3_uc002bmf.1_Missense_Mutation_p.T230S|NTRK3_uc010upl.1_Missense_Mutation_p.T132S|NTRK3_uc010bnh.1_Missense_Mutation_p.T230S|NTRK3_uc002bmg.2_Missense_Mutation_p.T230S	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	230	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATTGCAAGTGATAACAGCG	0.557			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)			21	43	---	---	---	---	PASS
WDR93	56964	broad.mit.edu	37	15	90258209	90258209	+	Splice_Site	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90258209A>T	uc002boj.2	+	6	742	c.641_splice	c.e6-2	p.G214_splice	WDR93_uc010bnr.2_Splice_Site_p.G214_splice	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93						electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCCAATGCAGGAGCCGGAG	0.458													5	31	---	---	---	---	PASS
CRTC3	64784	broad.mit.edu	37	15	91185216	91185216	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91185216G>A	uc002bpp.2	+	15	1810	c.1704G>A	c.(1702-1704)CTG>CTA	p.L568L	CRTC3_uc002bpo.2_Silent_p.L567L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	568					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TGGCAGGCCTGCCTGAGGTCA	0.562			T	MAML2	salivary gland mucoepidermoid								45	75	---	---	---	---	PASS
CHD2	1106	broad.mit.edu	37	15	93480847	93480847	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93480847C>A	uc002bsp.2	+	6	1118	c.543C>A	c.(541-543)GTC>GTA	p.V181V	CHD2_uc002bsm.1_Silent_p.V181V|CHD2_uc002bsn.2_Silent_p.V181V|CHD2_uc002bso.1_Silent_p.V181V|CHD2_uc010urb.1_Silent_p.V194V	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	181					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAAGACCTGTCCCCAGAAGGT	0.438													7	35	---	---	---	---	PASS
MCTP2	55784	broad.mit.edu	37	15	94913349	94913349	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:94913349G>T	uc002btj.2	+	11	1587	c.1522G>T	c.(1522-1524)GTC>TTC	p.V508F	MCTP2_uc002bti.2_Missense_Mutation_p.V508F|MCTP2_uc010boj.2_Missense_Mutation_p.V237F|MCTP2_uc010bok.2_Missense_Mutation_p.V508F|MCTP2_uc002btk.3_Missense_Mutation_p.V96F|MCTP2_uc002btl.2_Missense_Mutation_p.V96F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2 isoform 1	508	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(1)|pancreas(1)|skin(1)	3	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGTGAAAGACGTCGGCATTCT	0.358													35	49	---	---	---	---	PASS
LRRC28	123355	broad.mit.edu	37	15	99926293	99926293	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99926293G>C	uc002bva.1	+	10	1245	c.1090G>C	c.(1090-1092)GAC>CAC	p.D364H	LRRC28_uc002bvb.1_Missense_Mutation_p.D210H|LRRC28_uc010urt.1_Missense_Mutation_p.D178H|LRRC28_uc002bvc.1_Missense_Mutation_p.L310F|LRRC28_uc010uru.1_Missense_Mutation_p.D295H|LRRC28_uc002bvd.1_Missense_Mutation_p.D90H	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	364											0	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCAGACTTTTGACCTGCTGAG	0.517													210	322	---	---	---	---	PASS
C15orf51	196968	broad.mit.edu	37	15	100332063	100332063	+	RNA	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:100332063G>A	uc010urx.1	-	5		c.2129C>T			C15orf51_uc010ury.1_RNA	NR_003260				Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.												0						CGTTCGTTCTGTGTATGCCCC	0.562													11	51	---	---	---	---	PASS
ADAMTS17	170691	broad.mit.edu	37	15	100739635	100739635	+	Intron	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:100739635C>G	uc002bvv.1	-						ADAMTS17_uc002bvx.1_Intron	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1						proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ATTCCTGCAGCAGAGACACAA	0.537													99	124	---	---	---	---	PASS
LRRK1	79705	broad.mit.edu	37	15	101554532	101554532	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101554532C>T	uc002bwr.2	+	11	1750	c.1431C>T	c.(1429-1431)TTC>TTT	p.F477F	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	477	LRR 9.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTCATGTTCTTGAGGTTAC	0.537													107	152	---	---	---	---	PASS
WDR90	197335	broad.mit.edu	37	16	705883	705883	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:705883G>A	uc002cii.1	+	17	2014	c.1960G>A	c.(1960-1962)GAG>AAG	p.E654K	WDR90_uc002cig.1_Missense_Mutation_p.E654K|WDR90_uc002cih.1_Missense_Mutation_p.E655K|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.E181K|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	654	WD 4.									ovary(1)	1		Hepatocellular(780;0.0218)				GGTGCTCCTGGAGGCAGGTGA	0.687													3	7	---	---	---	---	PASS
C16orf42	115939	broad.mit.edu	37	16	1400989	1400989	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1400989C>T	uc002cll.2	-	3	413	c.345G>A	c.(343-345)GCG>GCA	p.A115A	GNPTG_uc002clm.2_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	hypothetical protein LOC115939	115					rRNA processing						0		Hepatocellular(780;0.0893)				CCCCAGACTGCGCCACCAGCT	0.622													27	19	---	---	---	---	PASS
CREBBP	1387	broad.mit.edu	37	16	3781770	3781770	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3781770C>A	uc002cvv.2	-						CREBBP_uc002cvw.2_Intron	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a						cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCGCAGCCCACGCCTACCTCC	0.577			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				80	52	---	---	---	---	PASS
CORO7	79585	broad.mit.edu	37	16	4415025	4415025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4415025G>A	uc002cwh.3	-	11	997	c.877C>T	c.(877-879)CAG>TAG	p.Q293*	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Nonsense_Mutation_p.Q293*|CORO7_uc002cwg.3_Nonsense_Mutation_p.Q73*|CORO7_uc010uxh.1_Nonsense_Mutation_p.Q275*|CORO7_uc010uxi.1_Nonsense_Mutation_p.Q208*|CORO7_uc002cwi.1_Nonsense_Mutation_p.Q73*|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Nonsense_Mutation_p.Q73*	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	293						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GCCGGCTGCTGCGGGACCACC	0.642													5	5	---	---	---	---	PASS
ZNF500	26048	broad.mit.edu	37	16	4815616	4815616	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4815616C>A	uc002cxp.1	-	2	611	c.364G>T	c.(364-366)GTG>TTG	p.V122L	ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Missense_Mutation_p.V122L	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	122	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3						ACAAGGACCACGGCCTCCTCA	0.652													59	34	---	---	---	---	PASS
APOB48R	55911	broad.mit.edu	37	16	28507281	28507281	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28507281G>A	uc002dqb.1	+	2	929	c.919G>A	c.(919-921)GGG>AGG	p.G307R	uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	apolipoprotein B48 receptor	307	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle					0						AATCTCAGGCGGGGAGGAGGC	0.652													5	9	---	---	---	---	PASS
ITGAD	3681	broad.mit.edu	37	16	31405625	31405625	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31405625G>T	uc002ebv.1	+	2	149	c.100G>T	c.(100-102)GGC>TGC	p.G34C	ITGAD_uc010vfl.1_Missense_Mutation_p.G34C|ITGAD_uc010cap.1_Missense_Mutation_p.G34C	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	34	Extracellular (Potential).|FG-GAP 1.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						GGATGCAGGCGGCTTTGGGCA	0.582													27	106	---	---	---	---	PASS
ZNF423	23090	broad.mit.edu	37	16	49670164	49670164	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49670164G>T	uc002efs.2	-	5	3197	c.2899C>A	c.(2899-2901)CGC>AGC	p.R967S	ZNF423_uc010vgn.1_Missense_Mutation_p.R850S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	967	C2H2-type 23.				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)				GAAGGGAAGCGCTCACCACAG	0.612													29	24	---	---	---	---	PASS
NOD2	64127	broad.mit.edu	37	16	50745311	50745311	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50745311C>A	uc002egm.1	+	4	1594	c.1489C>A	c.(1489-1491)CAG>AAG	p.Q497K	NOD2_uc010cbk.1_Missense_Mutation_p.Q470K|NOD2_uc002egl.1_Missense_Mutation_p.Q275K|NOD2_uc010cbl.1_Missense_Mutation_p.Q275K|NOD2_uc010cbm.1_Missense_Mutation_p.Q275K|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	497	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)				CAAATGCCACCAGGAACTGTT	0.597													63	72	---	---	---	---	PASS
SALL1	6299	broad.mit.edu	37	16	51175911	51175911	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51175911T>A	uc010vgs.1	-	2	253	c.222A>T	c.(220-222)GTA>GTT	p.V74V	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	74					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)			GATTTTCATTTACGATTAAAA	0.443													81	45	---	---	---	---	PASS
IRX5	10265	broad.mit.edu	37	16	54966530	54966530	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:54966530G>A	uc002ehv.2	+	2	370	c.370G>A	c.(370-372)GCC>ACC	p.A124T	IRX5_uc010cca.1_Missense_Mutation_p.A176T|IRX5_uc002ehw.2_Missense_Mutation_p.A58T	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	124	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CACAAGGGACGCCACGGCTAC	0.637													71	48	---	---	---	---	PASS
GPR114	221188	broad.mit.edu	37	16	57608958	57608958	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57608958C>A	uc002elx.3	+	11	1525	c.1440C>A	c.(1438-1440)TTC>TTA	p.F480L	GPR114_uc010vhr.1_Missense_Mutation_p.S441Y|GPR114_uc002ely.2_Missense_Mutation_p.F480L	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	480	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						TTGGCGTCTTCCTGCTGCCCC	0.577													28	29	---	---	---	---	PASS
CNGB1	1258	broad.mit.edu	37	16	58001179	58001179	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58001179C>T	uc002emt.2	-	2	77	c.12G>A	c.(10-12)TGG>TGA	p.W4*	CNGB1_uc010cdh.2_Nonsense_Mutation_p.W4*|CNGB1_uc002emu.2_Nonsense_Mutation_p.W4*	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	4					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CCCTCTGGACCCAGCCCAACA	0.597													23	33	---	---	---	---	PASS
ZNF319	57567	broad.mit.edu	37	16	58031855	58031855	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58031855C>A	uc002emx.1	-	2	938	c.315G>T	c.(313-315)CAG>CAT	p.Q105H		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	105	C2H2-type 2; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACTGTGTGCACTGGAATGAGC	0.617													33	36	---	---	---	---	PASS
CDH11	1009	broad.mit.edu	37	16	64982541	64982541	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:64982541C>A	uc002eoi.2	-						CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.V682L|CDH11_uc010vin.1_Intron	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTGTAGCCACCACATAGAGG	0.418			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	21	---	---	---	---	PASS
CDH5	1003	broad.mit.edu	37	16	66432414	66432414	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66432414T>A	uc002eom.3	+	10	1697	c.1541T>A	c.(1540-1542)TTC>TAC	p.F514Y		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	514	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AACGTGAAGTTCAAATTCATC	0.403													31	41	---	---	---	---	PASS
FUK	197258	broad.mit.edu	37	16	70501323	70501323	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70501323A>T	uc002eyy.2	+	7	589	c.531A>T	c.(529-531)CCA>CCT	p.P177P	FUK_uc010vmb.1_3'UTR|FUK_uc010cft.2_Silent_p.P209P|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	177						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				TCGCCCTCCCAGGGAGCCCGG	0.667													13	10	---	---	---	---	PASS
PMFBP1	83449	broad.mit.edu	37	16	72188115	72188115	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72188115C>T	uc002fcc.3	-	4	581	c.409G>A	c.(409-411)GAT>AAT	p.D137N	PMFBP1_uc002fcd.2_Missense_Mutation_p.D137N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	137										ovary(2)	2		Ovarian(137;0.179)				TATACCTCATCTTCTTTCAGT	0.458													127	96	---	---	---	---	PASS
ADAMTS18	170692	broad.mit.edu	37	16	77331277	77331277	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77331277G>T	uc002ffc.3	-	18	3129	c.2710C>A	c.(2710-2712)CAA>AAA	p.Q904K	ADAMTS18_uc010chc.1_Missense_Mutation_p.Q492K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.Q600K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	904					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						TGAGTATTTTGATCTCGCAAG	0.383													72	67	---	---	---	---	PASS
ATMIN	23300	broad.mit.edu	37	16	81078197	81078197	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81078197G>A	uc002ffz.1	+	4	2112	c.2094G>A	c.(2092-2094)GAG>GAA	p.E698E	ATMIN_uc002fga.2_Silent_p.E540E|ATMIN_uc010vnn.1_Silent_p.E469E|ATMIN_uc002fgb.1_Silent_p.E540E	NM_015251	NP_056066	O43313	ATMIN_HUMAN	ATM interactor	698					response to DNA damage stimulus	nucleus	zinc ion binding				0						TAGGCCTTGAGATGTTTGACA	0.453													144	117	---	---	---	---	PASS
OSGIN1	29948	broad.mit.edu	37	16	83999007	83999007	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83999007A>G	uc002fha.2	+	7	1461	c.1078A>G	c.(1078-1080)AGG>GGG	p.R360G	OSGIN1_uc002fhb.2_Missense_Mutation_p.R277G|OSGIN1_uc002fhc.2_Missense_Mutation_p.R277G	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	360					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity				0						GGCCGCCACAAGGGTGGGTGC	0.706													27	15	---	---	---	---	PASS
NECAB2	54550	broad.mit.edu	37	16	84014711	84014711	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84014711G>T	uc002fhd.2	+	5	455	c.438G>T	c.(436-438)AAG>AAT	p.K146N	NECAB2_uc002fhe.2_Missense_Mutation_p.K63N	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	146					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						CTGTCCTGAAGGCCATGGGTT	0.557													97	78	---	---	---	---	PASS
NECAB2	54550	broad.mit.edu	37	16	84027924	84027924	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84027924C>A	uc002fhd.2	+	7	631	c.614C>A	c.(613-615)CCC>CAC	p.P205H	NECAB2_uc002fhe.2_Missense_Mutation_p.P122H	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	205					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						CACATCAAACCCAGCCACAGC	0.572													19	28	---	---	---	---	PASS
FOXF1	2294	broad.mit.edu	37	16	86544788	86544788	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86544788G>A	uc002fjl.2	+	1	656	c.613G>A	c.(613-615)GGC>AGC	p.G205S	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	205					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						CAACGTGGACGGCATGGCCCT	0.607													2	2	---	---	---	---	PASS
FOXC2	2303	broad.mit.edu	37	16	86602427	86602427	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86602427T>C	uc002fjq.2	+	1	1571	c.1486T>C	c.(1486-1488)TAC>CAC	p.Y496H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	forkhead box C2	496					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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|transcription regulatory region DNA binding				0						CCCCTACTCCTACGACTGCAC	0.657									Late-onset_Hereditary_Lymphedema				20	22	---	---	---	---	PASS
MYO1C	4641	broad.mit.edu	37	17	1382019	1382019	+	Missense_Mutation	SNP	G	A	A	rs139543770	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1382019G>A	uc002fsp.2	-	10	1323	c.1103C>T	c.(1102-1104)CCG>CTG	p.P368L	MYO1C_uc002fsn.2_Missense_Mutation_p.P349L|MYO1C_uc002fso.2_Missense_Mutation_p.P333L|MYO1C_uc010vqj.1_Missense_Mutation_p.P333L|MYO1C_uc010vqk.1_Missense_Mutation_p.P344L	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	368	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGTTCAGCGGGCTCAGGAG	0.632													48	42	---	---	---	---	PASS
MYO1C	4641	broad.mit.edu	37	17	1382876	1382876	+	Intron	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1382876C>G	uc002fsp.2	-						MYO1C_uc002fsn.2_Intron|MYO1C_uc002fso.2_Intron|MYO1C_uc010vqj.1_Intron|MYO1C_uc010vqk.1_Intron	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a						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)		CCTCTGCCCGCCCCACTCACC	0.662													7	5	---	---	---	---	PASS
OR1A1	8383	broad.mit.edu	37	17	3119405	3119405	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3119405C>A	uc010vrc.1	+	1	491	c.491C>A	c.(490-492)GCT>GAT	p.A164D		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						CTGCTCACAGCTAGTCTGTCC	0.488													62	40	---	---	---	---	PASS
ZMYND15	84225	broad.mit.edu	37	17	4644069	4644069	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4644069G>T	uc002fyt.2	+	2	265	c.226G>T	c.(226-228)GAA>TAA	p.E76*	CXCL16_uc002fyr.3_5'Flank|CXCL16_uc002fys.3_5'Flank|ZMYND15_uc002fyv.2_Nonsense_Mutation_p.E76*|ZMYND15_uc002fyu.2_Nonsense_Mutation_p.E76*	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15 isoform 2	76							zinc ion binding				0						GCAAGGGGCAGAACCAGGTCC	0.637													21	14	---	---	---	---	PASS
WSCD1	23302	broad.mit.edu	37	17	6021442	6021442	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6021442G>T	uc010cli.2	+	8	1688	c.1309G>T	c.(1309-1311)GCA>TCA	p.A437S	WSCD1_uc002gcn.2_Missense_Mutation_p.A437S|WSCD1_uc002gco.2_Missense_Mutation_p.A437S|WSCD1_uc010clj.2_Missense_Mutation_p.A128S	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	437						integral to membrane	sulfotransferase activity				0						GTCCCTGGTGGCAGAATTCAA	0.542													33	23	---	---	---	---	PASS
PITPNM3	83394	broad.mit.edu	37	17	6373627	6373627	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6373627C>G	uc002gdd.3	-	13	1877	c.1726G>C	c.(1726-1728)GCC>CCC	p.A576P	PITPNM3_uc010cln.2_Missense_Mutation_p.A540P|PITPNM3_uc010clm.2_Missense_Mutation_p.A59P|PITPNM3_uc002gdc.3_Missense_Mutation_p.A167P	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	576	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)		CAGTAACTGGCGTGGAAGAGG	0.647													16	11	---	---	---	---	PASS
TP53	7157	broad.mit.edu	37	17	7578440	7578440	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578440T>C	uc002gim.2	-	5	684	c.490A>G	c.(490-492)AAG>GAG	p.K164E	TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.2_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.1_Missense_Mutation_p.K125E	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	164	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		K -> E (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> N (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.K164E(12)|p.K164*(9)|p.0?(7)|p.K164N(6)|p.K164M(4)|p.K164K(2)|p.K164fs*5(2)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.K164T(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.K164fs*17(1)|p.K164R(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(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)		TGTGACTGCTTGTAGATGGCC	0.627		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)			36	34	---	---	---	---	PASS
GUCY2D	3000	broad.mit.edu	37	17	7909797	7909797	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7909797C>G	uc002gjt.2	+	4	1217	c.1143C>G	c.(1141-1143)CAC>CAG	p.H381Q		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	381	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGGCCCGCCACATCCGGGATG	0.677													20	13	---	---	---	---	PASS
ALOX12B	242	broad.mit.edu	37	17	7979605	7979605	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7979605G>T	uc002gjy.1	-	11	1681	c.1420C>A	c.(1420-1422)CTC>ATC	p.L474I		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	474	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0						TCATAGGTGAGCTCCGACAGA	0.602										Multiple Myeloma(8;0.094)			16	23	---	---	---	---	PASS
MYH1	4619	broad.mit.edu	37	17	10405209	10405209	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10405209T>A	uc002gmo.2	-	25	3225	c.3131A>T	c.(3130-3132)CAA>CTA	p.Q1044L	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1044	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TTTCTTTTCTTGTTCCAAAGA	0.333													26	24	---	---	---	---	PASS
MYH1	4619	broad.mit.edu	37	17	10417424	10417424	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10417424C>T	uc002gmo.2	-	7	645	c.551G>A	c.(550-552)GGG>GAG	p.G184E	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	184	Myosin head-like.|ATP (Potential).					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						CACAGTCTTCCCTGCGCCAGA	0.433													43	45	---	---	---	---	PASS
MYH3	4621	broad.mit.edu	37	17	10541398	10541398	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10541398C>A	uc002gmq.1	-	26	3768	c.3691G>T	c.(3691-3693)GAC>TAC	p.D1231Y		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1231	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						CTGGAGAGGTCATCGATCTCC	0.562													70	66	---	---	---	---	PASS
DNAH9	1770	broad.mit.edu	37	17	11556254	11556254	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11556254G>T	uc002gne.2	+	14	2598	c.2530G>T	c.(2530-2532)GAT>TAT	p.D844Y	DNAH9_uc010coo.2_Missense_Mutation_p.D138Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	844	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATCGGCATGATCGAATGGA	0.418													50	52	---	---	---	---	PASS
DNAH9	1770	broad.mit.edu	37	17	11572399	11572399	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11572399C>A	uc002gne.2	+	16	2818	c.2750C>A	c.(2749-2751)ACC>AAC	p.T917N	DNAH9_uc010coo.2_Missense_Mutation_p.T211N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	917	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAGGACTTACCCCAATATTT	0.428													89	66	---	---	---	---	PASS
RAI1	10743	broad.mit.edu	37	17	17697397	17697397	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17697397A>T	uc002grm.2	+	3	1604	c.1135A>T	c.(1135-1137)ACC>TCC	p.T379S	RAI1_uc002grn.1_Missense_Mutation_p.T379S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	379						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GCCGCTCAGCACCGGGGCCTT	0.652													67	45	---	---	---	---	PASS
RAI1	10743	broad.mit.edu	37	17	17698714	17698714	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17698714G>T	uc002grm.2	+	3	2921	c.2452G>T	c.(2452-2454)GTG>TTG	p.V818L	RAI1_uc002grn.1_Missense_Mutation_p.V818L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	818						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		GGTGGGTGGGGTGAAGGAGGA	0.692													12	9	---	---	---	---	PASS
TBC1D28	254272	broad.mit.edu	37	17	18541193	18541193	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18541193G>T	uc002gud.2	-	9	893	c.481C>A	c.(481-483)CAA>AAA	p.Q161K		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	161	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(1)	1						CCGAATCTTTGTATGAACATC	0.542													29	44	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	17	19091449	19091449	+	IGR	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19091449T>A								GRAPL (29301 upstream) : EPN2 (49241 downstream)																							tgaagccggctttctggcgtt	0.000													45	251	---	---	---	---	PASS
LGALS9	3965	broad.mit.edu	37	17	25967675	25967675	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:25967675G>T	uc002gzp.2	+	3	327	c.209G>T	c.(208-210)GGG>GTG	p.G70V	LGALS9_uc002gzq.2_Missense_Mutation_p.G70V|LGALS9_uc002gzr.2_Missense_Mutation_p.G13V|LGALS9_uc010waa.1_Missense_Mutation_p.G13V|LGALS9_uc002gzs.2_Missense_Mutation_p.G70V	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long	70	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GAAGATGGAGGGTACGTGGTG	0.537													35	130	---	---	---	---	PASS
LGALS9	3965	broad.mit.edu	37	17	25974156	25974156	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:25974156G>T	uc002gzp.2	+						LGALS9_uc002gzq.2_Intron|LGALS9_uc002gzr.2_Intron|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	galectin-9 isoform long						positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity				0	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TAAGCCAAGGGCTCCAGTGAC	0.572													27	88	---	---	---	---	PASS
SPAG5	10615	broad.mit.edu	37	17	26920005	26920005	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26920005G>A	uc002hbq.2	-	3	349	c.257C>T	c.(256-258)TCC>TTC	p.S86F	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	86					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)					CCACTTTGAGGAATGACTGAA	0.328													47	130	---	---	---	---	PASS
KIAA0100	9703	broad.mit.edu	37	17	26960074	26960074	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26960074C>A	uc002hbu.2	-	20	3790	c.3691G>T	c.(3691-3693)GCC>TCC	p.A1231S		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	1231						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AACTCTGGGGCCCGCAGAGTG	0.587													19	64	---	---	---	---	PASS
PHF12	57649	broad.mit.edu	37	17	27251019	27251019	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27251019C>A	uc002hdg.1	-	4	1153	c.623G>T	c.(622-624)CGG>CTG	p.R208L	PHF12_uc010wbb.1_Missense_Mutation_p.R190L|PHF12_uc002hdi.1_Missense_Mutation_p.R204L|PHF12_uc002hdj.1_Missense_Mutation_p.R208L|PHF12_uc010crw.1_Intron|uc002hdl.2_5'Flank|PHF12_uc002hdh.1_5'UTR	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	PHD finger protein 12 isoform 1	208	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			ovary(1)	1	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CTCAAAGGGCCGCCTCAGCTG	0.562													5	22	---	---	---	---	PASS
MYO18A	399687	broad.mit.edu	37	17	27425375	27425375	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27425375C>G	uc002hdt.1	-	24	4027	c.3869G>C	c.(3868-3870)CGG>CCG	p.R1290P	MYO18A_uc010wbc.1_Missense_Mutation_p.R832P|MYO18A_uc002hds.2_Missense_Mutation_p.R832P|MYO18A_uc010csa.1_Missense_Mutation_p.R1290P|MYO18A_uc002hdu.1_Missense_Mutation_p.R1290P|MYO18A_uc010wbd.1_Missense_Mutation_p.R959P	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1290	Potential.				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)			GTCACTCACCCGGCTCTCCAG	0.652													9	24	---	---	---	---	PASS
SLC6A4	6532	broad.mit.edu	37	17	28543169	28543169	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28543169G>T	uc002hey.3	-	7	1447	c.903C>A	c.(901-903)ACC>ACA	p.T301T		NM_001045	NP_001036	P31645	SC6A4_HUMAN	solute carrier family 6 member 4	301					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			skin(3)|ovary(1)	4					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTCCAGGGAGGGTGGCACCCC	0.517													30	70	---	---	---	---	PASS
BLMH	642	broad.mit.edu	37	17	28614917	28614917	+	Nonsense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28614917T>A	uc002hez.1	-	4	607	c.370A>T	c.(370-372)AGA>TGA	p.R124*	BLMH_uc010wbn.1_Nonsense_Mutation_p.R37*	NM_000386	NP_000377	Q13867	BLMH_HUMAN	bleomycin hydrolase	124					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			ovary(1)	1						GGCTCCTTTCTCTGGGCTGTG	0.383													37	52	---	---	---	---	PASS
TBC1D29	26083	broad.mit.edu	37	17	28889927	28889927	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28889927C>T	uc002hfh.2	+	4	368	c.219C>T	c.(217-219)GCC>GCT	p.A73A	TBC1D29_uc002hfi.2_Intron|uc002hfj.1_5'Flank	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	73						intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)				GGGGACCTGCCACCCCCAGGT	0.453													22	96	---	---	---	---	PASS
ADAP2	55803	broad.mit.edu	37	17	29281555	29281555	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29281555C>G	uc002hfx.2	+	9	1143	c.864C>G	c.(862-864)CTC>CTG	p.L288L	ADAP2_uc010csk.2_Silent_p.L294L|ADAP2_uc002hfy.2_Silent_p.L287L|ADAP2_uc010csl.2_RNA	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	centaurin-alpha 2 protein	288	PH 2.				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						GGAGGCTGCTCTATTACAAGA	0.512													61	111	---	---	---	---	PASS
NF1	4763	broad.mit.edu	37	17	29685528	29685528	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29685528C>A	uc002hgg.2	+	55	8334	c.8001C>A	c.(7999-8001)ACC>ACA	p.T2667T	NF1_uc002hgh.2_Silent_p.T2646T|NF1_uc010cso.2_Silent_p.T855T|NF1_uc010wbt.1_Silent_p.T145T|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2667					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)		AGATCAACACCCTGTTATCAT	0.348			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)			15	51	---	---	---	---	PASS
NF1	4763	broad.mit.edu	37	17	29685530	29685530	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29685530T>A	uc002hgg.2	+	55	8336	c.8003T>A	c.(8002-8004)CTG>CAG	p.L2668Q	NF1_uc002hgh.2_Missense_Mutation_p.L2647Q|NF1_uc010cso.2_Missense_Mutation_p.L856Q|NF1_uc010wbt.1_Missense_Mutation_p.L146Q|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2668					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)		ATCAACACCCTGTTATCATTG	0.348			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)			15	50	---	---	---	---	PASS
LRRC37B	114659	broad.mit.edu	37	17	30348860	30348860	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30348860T>C	uc002hgu.2	+	1	706	c.695T>C	c.(694-696)CTG>CCG	p.L232P	LRRC37B_uc010wbx.1_Missense_Mutation_p.L150P|LRRC37B_uc010csu.2_Missense_Mutation_p.L232P	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B precursor	232	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGGACACACTGTATCCCGGC	0.502													39	118	---	---	---	---	PASS
RHBDL3	162494	broad.mit.edu	37	17	30632392	30632392	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30632392G>T	uc002hhe.1	+	7	828	c.814G>T	c.(814-816)GCT>TCT	p.A272S	RHBDL3_uc010csw.1_Missense_Mutation_p.A264S|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.A174S|RHBDL3_uc002hhf.1_Missense_Mutation_p.A174S	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	272					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				TGACATGACCGCTCCAGTCGT	0.577													19	91	---	---	---	---	PASS
CDK5R1	8851	broad.mit.edu	37	17	30815061	30815061	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30815061G>T	uc002hhn.2	+	2	644	c.423G>T	c.(421-423)CGG>CGT	p.R141R	CDK5R1_uc010wca.1_Silent_p.R141R|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	141					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGCCCAAACGGGTCATCGTCC	0.687													14	38	---	---	---	---	PASS
CCL14	6358	broad.mit.edu	37	17	34311434	34311434	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34311434G>C	uc010wcr.1	-	2	213	c.134C>G	c.(133-135)CCG>CGG	p.P45R	CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.P61R|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14 isoform 1	45					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGCTGACGCGGGATCTTGTA	0.557													22	57	---	---	---	---	PASS
MYO19	80179	broad.mit.edu	37	17	34858937	34858937	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34858937C>T	uc010wcy.1	-	22	3072	c.2080G>A	c.(2080-2082)GAA>AAA	p.E694K	MYO19_uc002hmw.2_Missense_Mutation_p.E494K|MYO19_uc010cuu.2_RNA	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	myosin XIX isoform 2	694						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)	1		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCCCACTCACCAGGGAGCCCT	0.318													48	118	---	---	---	---	PASS
DHRS11	79154	broad.mit.edu	37	17	34951410	34951410	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34951410G>T	uc002hnd.2	+	2	371	c.157G>T	c.(157-159)GCT>TCT	p.A53S		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase precursor	53						extracellular region	binding|oxidoreductase activity				0						GGAGCTGGCTGCTGAATGTAA	0.562													11	42	---	---	---	---	PASS
STAC2	342667	broad.mit.edu	37	17	37369250	37369250	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37369250G>T	uc002hrs.2	-	10	1348	c.1129C>A	c.(1129-1131)CAG>AAG	p.Q377K	STAC2_uc010cvt.2_Missense_Mutation_p.Q235K	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	377					intracellular signal transduction		metal ion binding			pancreas(1)	1						GCACTCACCTGGTTCTCCTTG	0.622													32	84	---	---	---	---	PASS
CDK12	51755	broad.mit.edu	37	17	37687206	37687206	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37687206G>T	uc010cvv.2	+	14	4696	c.4110G>T	c.(4108-4110)CTG>CTT	p.L1370L	CDK12_uc002hrw.3_Silent_p.L1361L	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Cdc2-related kinase, arginine/serine-rich	1370					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						TCCAGACCCTGGTGAAGAACA	0.552										TCGA Ovarian(9;0.13)			15	40	---	---	---	---	PASS
NEUROD2	4761	broad.mit.edu	37	17	37762558	37762558	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37762558C>A	uc002hry.2	-	2	495	c.295G>T	c.(295-297)GAG>TAG	p.E99*		NM_006160	NP_006151	Q15784	NDF2_HUMAN	neurogenic differentiation 2	99					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor 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)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TTGGGCCGCTCGCCCTCCGCC	0.512													3	13	---	---	---	---	PASS
KRTAP9-8	83901	broad.mit.edu	37	17	39394593	39394593	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39394593C>A	uc002hwh.3	+	1	324	c.290C>A	c.(289-291)GCA>GAA	p.A97E	KRTAP9-9_uc010wfq.1_Intron	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9.8	97	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				ovary(1)	1		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCTCCTGTGCACCTGTGTAC	0.622													31	66	---	---	---	---	PASS
HAP1	9001	broad.mit.edu	37	17	39888337	39888337	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39888337C>T	uc002hxm.1	-	4	760	c.748G>A	c.(748-750)GAT>AAT	p.D250N	JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.D250N|HAP1_uc002hxo.1_Missense_Mutation_p.D258N|HAP1_uc002hxp.1_Missense_Mutation_p.D250N	NM_177977	NP_817084	P54257	HAP1_HUMAN	huntingtin-associated protein 1 isoform 2	250	HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			ovary(2)	2		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGGAGCTCATCCCGCAAGTTC	0.368													26	51	---	---	---	---	PASS
AOC2	314	broad.mit.edu	37	17	40997010	40997010	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40997010A>G	uc002ibu.2	+	1	402	c.367A>G	c.(367-369)ATC>GTC	p.I123V	AOC2_uc002ibt.2_Missense_Mutation_p.I123V	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	123					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGCACTGGCCATCGTCCTCTT	0.657													8	42	---	---	---	---	PASS
AOC3	8639	broad.mit.edu	37	17	41006721	41006721	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41006721C>A	uc002ibv.2	+	2	2017	c.1857C>A	c.(1855-1857)AGC>AGA	p.S619R		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	619	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCCAAAACAGCTCCATGGCGA	0.627													7	38	---	---	---	---	PASS
CD300LG	146894	broad.mit.edu	37	17	41931263	41931263	+	Nonsense_Mutation	SNP	C	A	A	rs149330626	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41931263C>A	uc002iem.2	+	4	611	c.570C>A	c.(568-570)TAC>TAA	p.Y190*	CD300LG_uc002iel.1_Intron|CD300LG_uc010czk.2_Nonsense_Mutation_p.Y190*|CD300LG_uc010wil.1_Nonsense_Mutation_p.Y156*|CD300LG_uc010czl.2_Intron	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g precursor	190	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity				0		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTTCCCAGTACGGGCACGAAA	0.632													23	89	---	---	---	---	PASS
SLC4A1	6521	broad.mit.edu	37	17	42328875	42328875	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42328875G>A	uc002igf.3	-	18	2542	c.2393C>T	c.(2392-2394)ACG>ATG	p.T798M		NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	798	Helical; (Potential).|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCTGAGCGACGTGACCCCCAT	0.597													20	74	---	---	---	---	PASS
ITGB3	3690	broad.mit.edu	37	17	45369703	45369703	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45369703C>T	uc002ilj.2	+	10	1479	c.1459C>T	c.(1459-1461)CGT>TGT	p.R487C	ITGB3_uc010wkr.1_RNA	NM_000212	NP_000203	P05106	ITB3_HUMAN	integrin beta chain, beta 3 precursor	487	I.|Extracellular (Potential).|Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			central_nervous_system(5)|large_intestine(1)	6					Abciximab(DB00054)|Tirofiban(DB00775)	TGGGGTATGCCGTTGTGGGCC	0.602													31	77	---	---	---	---	PASS
PHB	5245	broad.mit.edu	37	17	47484217	47484217	+	Splice_Site	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47484217C>G	uc002iox.1	-	6	584	c.511_splice	c.e6-1	p.T171_splice		NM_002634	NP_002625	P35232	PHB_HUMAN	prohibitin						cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding				0	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TCAGATGTGTCTAAGGGGAGA	0.562													15	31	---	---	---	---	PASS
SLC35B1	10237	broad.mit.edu	37	17	47780668	47780668	+	Intron	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47780668T>C	uc002iph.1	-						SLC35B1_uc002ipi.1_Intron|SLC35B1_uc002ipj.1_Intron	NM_005827	NP_005818	P78383	S35B1_HUMAN	solute carrier family 35, member B1							endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity				0						TGAGAAGACATGTCAACAAAT	0.403													17	44	---	---	---	---	PASS
PDK2	5164	broad.mit.edu	37	17	48182723	48182723	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48182723G>T	uc002iqc.2	+						PDK2_uc002iqb.2_Intron	NM_002611	NP_002602	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase 2 precursor						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(3)	3						GTCCCCTCCCGCCCCCACACA	0.632									Autosomal_Dominant_Polycystic_Kidney_Disease				8	13	---	---	---	---	PASS
KIF2B	84643	broad.mit.edu	37	17	51900394	51900394	+	5'UTR	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:51900394C>G	uc002iua.2	+	1						NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B						blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						CATCACTCACCATGGCCAGCC	0.612													7	32	---	---	---	---	PASS
TRIM37	4591	broad.mit.edu	37	17	57094780	57094780	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57094780T>C	uc002iwy.3	-	20	2707	c.2263A>G	c.(2263-2265)AAT>GAT	p.N755D	TRIM37_uc002iwz.3_Missense_Mutation_p.N755D|TRIM37_uc002ixa.3_Missense_Mutation_p.N633D|TRIM37_uc010woc.1_Missense_Mutation_p.N721D	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	755						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)					CTCTTCTTATTTGTGGCTGCA	0.423									Mulibrey_Nanism				24	77	---	---	---	---	PASS
APPBP2	10513	broad.mit.edu	37	17	58556611	58556611	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58556611C>G	uc002iys.1	-	4	689	c.401G>C	c.(400-402)GGC>GCC	p.G134A	APPBP2_uc010ddl.1_Missense_Mutation_p.G63A	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	134	TPR 2.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGTACCAGCCTGCATCTGA	0.383													18	47	---	---	---	---	PASS
PPM1D	8493	broad.mit.edu	37	17	58711239	58711239	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58711239C>T	uc002iyt.1	+	3	949	c.727C>T	c.(727-729)CGT>TGT	p.R243C	PPM1D_uc010ddm.1_RNA	NM_003620	NP_003611	O15297	PPM1D_HUMAN	protein phosphatase 1D	243	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGGGGTGAATCGTGTAGTTTG	0.368													14	52	---	---	---	---	PASS
EFCAB3	146779	broad.mit.edu	37	17	60483852	60483852	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60483852G>A	uc002izu.1	+	7	578	c.500G>A	c.(499-501)AGA>AAA	p.R167K	EFCAB3_uc010wpc.1_Missense_Mutation_p.R219K	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3 isoform b	167							calcium ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TATTTCCAAAGAAAATTCCAG	0.368													13	36	---	---	---	---	PASS
KCNH6	81033	broad.mit.edu	37	17	61611394	61611394	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61611394C>A	uc002jay.2	+	5	903	c.823C>A	c.(823-825)CCC>ACC	p.P275T	KCNH6_uc002jax.1_Missense_Mutation_p.P275T|KCNH6_uc010wpl.1_Missense_Mutation_p.P152T|KCNH6_uc010wpm.1_Missense_Mutation_p.P275T|KCNH6_uc002jaz.1_Missense_Mutation_p.P275T	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	275	Helical; Name=Segment S1; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	TGTCTTCACGCCCTACTCAGC	0.622													40	100	---	---	---	---	PASS
KCNH6	81033	broad.mit.edu	37	17	61611395	61611395	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61611395C>A	uc002jay.2	+	5	904	c.824C>A	c.(823-825)CCC>CAC	p.P275H	KCNH6_uc002jax.1_Missense_Mutation_p.P275H|KCNH6_uc010wpl.1_Missense_Mutation_p.P152H|KCNH6_uc010wpm.1_Missense_Mutation_p.P275H|KCNH6_uc002jaz.1_Missense_Mutation_p.P275H	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H,	275	Helical; Name=Segment S1; (Potential).				regulation of transcription, DNA-dependent|signal transduction					skin(1)	1					Ibutilide(DB00308)	GTCTTCACGCCCTACTCAGCC	0.622													40	98	---	---	---	---	PASS
CSH2	1443	broad.mit.edu	37	17	61950631	61950631	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61950631C>A	uc002jch.2	-	2	194	c.79G>T	c.(79-81)GTC>TTC	p.V27F	CSH2_uc002jcg.2_Missense_Mutation_p.V27F|CSH2_uc002jci.2_Missense_Mutation_p.V27F|GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Missense_Mutation_p.V27F	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	27					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0						ACGGTTTGGACGGCACCAGCC	0.607													24	123	---	---	---	---	PASS
GH2	2689	broad.mit.edu	37	17	61958388	61958388	+	Splice_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61958388C>A	uc002jco.1	-	3	353	c.291_splice	c.e3+1	p.S97_splice	GH2_uc002jcj.2_Splice_Site_p.S97_splice|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Splice_Site_p.S97_splice|GH2_uc002jcm.1_Splice_Site_p.S97_splice|GH2_uc002jcn.1_Splice_Site_p.S82_splice	NM_002059	NP_002050	P01242	SOM2_HUMAN	growth hormone 2 isoform 1							extracellular region	hormone activity			upper_aerodigestive_tract(2)|pancreas(1)	3						CATCCACTCACAGATTTCTGC	0.577													81	250	---	---	---	---	PASS
SCN4A	6329	broad.mit.edu	37	17	62050198	62050198	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62050198C>G	uc002jds.1	-	1	81	c.4G>C	c.(4-6)GCC>CCC	p.A2P		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	2					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	GATGGTCTGGCCATCCTCGCA	0.701													7	16	---	---	---	---	PASS
SCN4A	6329	broad.mit.edu	37	17	62050199	62050199	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62050199C>A	uc002jds.1	-	1	80	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)	ATGGTCTGGCCATCCTCGCAT	0.706													7	16	---	---	---	---	PASS
ABCA8	10351	broad.mit.edu	37	17	66913532	66913532	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66913532T>A	uc002jhp.2	-	15	2167	c.1988A>T	c.(1987-1989)AAG>ATG	p.K663M	ABCA8_uc002jhq.2_Missense_Mutation_p.K703M|ABCA8_uc010wqq.1_Missense_Mutation_p.K703M|ABCA8_uc010wqr.1_Missense_Mutation_p.K642M|ABCA8_uc002jhr.2_Missense_Mutation_p.K703M	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	663	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)					CCATTTCTTCTTTAGAAACAA	0.393													55	162	---	---	---	---	PASS
ABCA9	10350	broad.mit.edu	37	17	66982353	66982353	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66982353G>T	uc002jhu.2	-	32	4303	c.4160C>A	c.(4159-4161)GCT>GAT	p.A1387D	ABCA9_uc010dez.2_Missense_Mutation_p.A1349D	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1387	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TTTCACGGCAGCGTACACCTC	0.612													43	101	---	---	---	---	PASS
ABCA9	10350	broad.mit.edu	37	17	66982354	66982354	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66982354C>T	uc002jhu.2	-	32	4302	c.4159G>A	c.(4159-4161)GCT>ACT	p.A1387T	ABCA9_uc010dez.2_Missense_Mutation_p.A1349T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1387	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					TTCACGGCAGCGTACACCTCC	0.612													42	97	---	---	---	---	PASS
ABCA9	10350	broad.mit.edu	37	17	67012471	67012471	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67012471C>G	uc002jhu.2	-	22	3105	c.2962G>C	c.(2962-2964)GAT>CAT	p.D988H	ABCA9_uc010dez.2_Missense_Mutation_p.D988H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	988					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)					CTAATGACATCCAGGAGGACA	0.343													35	110	---	---	---	---	PASS
KCNJ2	3759	broad.mit.edu	37	17	68171898	68171898	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:68171898G>A	uc010dfg.2	+	2	1119	c.718G>A	c.(718-720)GGG>AGG	p.G240R	KCNJ2_uc002jir.2_Missense_Mutation_p.G240R	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	240	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					TACTTCTGAAGGGGAGTATAT	0.448													32	79	---	---	---	---	PASS
ACOX1	51	broad.mit.edu	37	17	73949611	73949611	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73949611C>A	uc002jqf.2	-	7	1155	c.865G>T	c.(865-867)GCT>TCT	p.A289S	ACOX1_uc010wsq.1_Missense_Mutation_p.A251S|ACOX1_uc002jqe.2_Missense_Mutation_p.A289S|ACOX1_uc010wsr.1_Missense_Mutation_p.A221S	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	289					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1						GCCCGAGCAGCTTCTCCCACA	0.537													15	66	---	---	---	---	PASS
TMC6	11322	broad.mit.edu	37	17	76121327	76121327	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76121327C>A	uc002juj.1	-	5	574	c.448G>T	c.(448-450)GTG>TTG	p.V150L	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_5'UTR|TMC6_uc002juk.2_Missense_Mutation_p.V150L|TMC6_uc010dhg.1_Missense_Mutation_p.V150L|TMC6_uc002jul.1_Missense_Mutation_p.V150L|TMC6_uc002jum.3_5'UTR|TMC6_uc002jun.3_Missense_Mutation_p.V150L|TMC6_uc002juo.2_5'UTR|TMC6_uc010wtp.1_5'UTR	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	150	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTCCTTCACCAGGAGGCTC	0.667									Epidermodysplasia_Verruciformis_Familial_Clustering_of				2	1	---	---	---	---	PASS
C1QTNF1	114897	broad.mit.edu	37	17	77043891	77043891	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77043891G>T	uc002jwp.2	+	4	907	c.567G>T	c.(565-567)GTG>GTT	p.V189V	C1QTNF1_uc002jwq.2_Silent_p.V107V|C1QTNF1_uc002jwr.3_Silent_p.V199V|C1QTNF1_uc002jws.2_Silent_p.V189V|C1QTNF1_uc002jwt.2_Silent_p.V287V	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	189	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ACTGCTACGTGCCCGGCCTCT	0.532													32	93	---	---	---	---	PASS
RNF213	57674	broad.mit.edu	37	17	78318559	78318559	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78318559G>C	uc002jyh.1	+	4	866	c.643G>C	c.(643-645)GAG>CAG	p.E215Q		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)			GATAGACATGGAGCTGAGTGC	0.488													64	135	---	---	---	---	PASS
RNF213	57674	broad.mit.edu	37	17	78321522	78321522	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78321522G>A	uc002jyh.1	+	4	3829	c.3606G>A	c.(3604-3606)GTG>GTA	p.V1202V		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)			AGAAGTACGTGGACCTCGGTC	0.552													34	75	---	---	---	---	PASS
SLC38A10	124565	broad.mit.edu	37	17	79250894	79250894	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79250894T>A	uc002jzz.1	-	7	1041	c.666A>T	c.(664-666)TCA>TCT	p.S222S	SLC38A10_uc002jzy.1_Silent_p.S140S|SLC38A10_uc002kab.2_Silent_p.S222S	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10 isoform a	222					amino acid transport|sodium ion transport	integral to membrane				pancreas(1)|skin(1)	2	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGTTTTCACTGACGGCTCAT	0.577													22	50	---	---	---	---	PASS
SLC25A10	1468	broad.mit.edu	37	17	79671382	79671382	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79671382C>T	uc010wut.1	+	2	308	c.183C>T	c.(181-183)CCC>CCT	p.P61P	MRPL12_uc002kbh.1_Silent_p.P61P	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier;	Error:Variant_position_missing_in_Q9UBX3_after_alignment					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AGGAGTACCCCCCCAAGATAC	0.597													6	34	---	---	---	---	PASS
NOTUM	147111	broad.mit.edu	37	17	79911102	79911102	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79911102C>T	uc010wvg.1	-	11	1498	c.1226G>A	c.(1225-1227)CGA>CAA	p.R409Q		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	409						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTGCAGTGCTCGGGGCAGCGA	0.657													3	13	---	---	---	---	PASS
FASN	2194	broad.mit.edu	37	17	80040803	80040803	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80040803G>A	uc002kdu.2	-	33	5871	c.5754C>T	c.(5752-5754)TCC>TCT	p.S1918S	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1918	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCCGGATCCCGGAGCGAGAAG	0.652													13	45	---	---	---	---	PASS
CCDC57	284001	broad.mit.edu	37	17	80136436	80136436	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80136436C>A	uc002kdz.1	-	11	1775	c.1420G>T	c.(1420-1422)GAG>TAG	p.E474*	CCDC57_uc002kdx.1_Nonsense_Mutation_p.E474*|CCDC57_uc010dik.1_5'UTR	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	474	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AGCACCACCTCCTGCTCCTGT	0.642													9	26	---	---	---	---	PASS
CCDC57	284001	broad.mit.edu	37	17	80136437	80136437	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80136437C>A	uc002kdz.1	-	11	1774	c.1419G>T	c.(1417-1419)CAG>CAT	p.Q473H	CCDC57_uc002kdx.1_Missense_Mutation_p.Q473H|CCDC57_uc010dik.1_Translation_Start_Site	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	473	Potential.									ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCACCACCTCCTGCTCCTGTA	0.642													7	27	---	---	---	---	PASS
B3GNTL1	146712	broad.mit.edu	37	17	80963008	80963008	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80963008C>A	uc002kgg.1	-	6	501	c.487G>T	c.(487-489)GAG>TAG	p.E163*	B3GNTL1_uc002kgf.1_Nonsense_Mutation_p.E52*|B3GNTL1_uc002kge.1_RNA	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal	163							transferase activity, transferring glycosyl groups			ovary(1)|pancreas(1)	2	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGGAGCTGCTCCGGCGTCAGC	0.572													17	47	---	---	---	---	PASS
COLEC12	81035	broad.mit.edu	37	18	334952	334952	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:334952C>A	uc002kkm.2	-	6	1821	c.1606G>T	c.(1606-1608)GGA>TGA	p.G536*		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	536	Collagen-like 3.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCGGGGAGTCCCTCTTTGCCT	0.731													14	20	---	---	---	---	PASS
LAMA1	284217	broad.mit.edu	37	18	7011983	7011983	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7011983G>T	uc002knm.2	-						LAMA1_uc010wzj.1_Intron	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor						axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTTCGCTGTGTGTGACTTAC	0.582													4	14	---	---	---	---	PASS
RALBP1	10928	broad.mit.edu	37	18	9517070	9517070	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9517070G>C	uc002kob.2	+	3	695	c.472G>C	c.(472-474)GAT>CAT	p.D158H	RALBP1_uc002koc.2_Missense_Mutation_p.D158H	NM_006788	NP_006779	Q15311	RBP1_HUMAN	ralA binding protein 1	158					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			central_nervous_system(1)	1						gacagcagctgatgttgttaa	0.134													11	5	---	---	---	---	PASS
FAM38B	63895	broad.mit.edu	37	18	10696074	10696074	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10696074C>T	uc002kor.3	-	5	860	c.720G>A	c.(718-720)GAG>GAA	p.E240E	FAM38B_uc002koq.2_Silent_p.E138E	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2283						integral to membrane	ion channel activity			ovary(1)	1						GACCTTACCTCTCAGTCACAC	0.498													79	112	---	---	---	---	PASS
AFG3L2	10939	broad.mit.edu	37	18	12358935	12358935	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12358935G>A	uc002kqz.1	-	8	873	c.760C>T	c.(760-762)CTG>TTG	p.L254L		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	AFG3 ATPase family gene 3-like 2	254	Helical; (Potential).				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding				0					Adenosine triphosphate(DB00171)	ATGCTCAGCAGAAAAGAGCTG	0.537													8	38	---	---	---	---	PASS
ESCO1	114799	broad.mit.edu	37	18	19116018	19116018	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19116018C>T	uc002kth.1	-	10	3106	c.2172G>A	c.(2170-2172)GCG>GCA	p.A724A	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	724					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						GGATATGTTCCGCAATTAGGC	0.333													61	172	---	---	---	---	PASS
OSBPL1A	114876	broad.mit.edu	37	18	21892062	21892062	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21892062C>A	uc002kve.2	-	13	1152	c.978G>T	c.(976-978)CTG>CTT	p.L326L	OSBPL1A_uc010xbc.1_5'Flank|OSBPL1A_uc002kvf.3_Silent_p.L106L	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	326	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTATTGCTTCCAGCCAGTCCT	0.393													93	93	---	---	---	---	PASS
CDH2	1000	broad.mit.edu	37	18	25589781	25589781	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:25589781C>A	uc002kwg.2	-	5	1061	c.602G>T	c.(601-603)GGA>GTA	p.G201V	CDH2_uc010xbn.1_Missense_Mutation_p.G170V	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	201	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						CTGGTCAGCTCCTGGCCCAGT	0.483													21	57	---	---	---	---	PASS
ASXL3	80816	broad.mit.edu	37	18	31314344	31314344	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31314344G>T	uc010dmg.1	+	10	1102	c.1047G>T	c.(1045-1047)TGG>TGT	p.W349C	ASXL3_uc002kxq.2_Missense_Mutation_p.W56C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						CAGAACCTTGGAAAGAAAAAT	0.318													12	17	---	---	---	---	PASS
SETBP1	26040	broad.mit.edu	37	18	42533143	42533143	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:42533143G>T	uc010dni.2	+	4	4134	c.3838G>T	c.(3838-3840)GTG>TTG	p.V1280L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	1280						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAACCTGGACGTGTTCAGTGA	0.512									Schinzel-Giedion_syndrome				11	41	---	---	---	---	PASS
PHLPP1	23239	broad.mit.edu	37	18	60527717	60527717	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60527717A>T	uc002lis.2	+	5	591	c.413A>T	c.(412-414)GAA>GTA	p.E138V		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	650	LRR 1.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0						TGTAGCCTGGAACATCTGCCT	0.463													13	23	---	---	---	---	PASS
CDH7	1005	broad.mit.edu	37	18	63489423	63489423	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:63489423A>T	uc002ljz.2	+	5	1057	c.732A>T	c.(730-732)GGA>GGT	p.G244G	CDH7_uc002lka.2_Silent_p.G244G|CDH7_uc002lkb.2_Silent_p.G244G	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	244	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				GACTGTCAGGAACTACATCAG	0.423													16	38	---	---	---	---	PASS
CBLN2	147381	broad.mit.edu	37	18	70209051	70209051	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70209051G>A	uc002lku.2	-	2	580	c.345C>T	c.(343-345)ATC>ATT	p.I115I	CBLN2_uc002lkv.2_Silent_p.I115I	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	115	C1q.					integral to membrane					0		Esophageal squamous(42;0.131)				GGTCGAAATAGATGGTCATGG	0.701													5	14	---	---	---	---	PASS
NETO1	81832	broad.mit.edu	37	18	70532460	70532460	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:70532460G>T	uc002lkw.2	-	2	329	c.45C>A	c.(43-45)ATC>ATA	p.I15I	NETO1_uc002lkx.1_Silent_p.I14I|NETO1_uc002lky.1_Silent_p.I15I|NETO1_uc002lkz.2_Silent_p.I14I	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	15					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)		AATGGAGGATGATTAAACTTG	0.308													9	23	---	---	---	---	PASS
NFATC1	4772	broad.mit.edu	37	18	77170980	77170980	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77170980G>T	uc010xfg.1	+	2	1158	c.705G>T	c.(703-705)CGG>CGT	p.R235R	NFATC1_uc002lnc.1_Silent_p.R235R|NFATC1_uc010xff.1_Silent_p.R235R|NFATC1_uc002lnd.2_Silent_p.R235R|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.R235R|NFATC1_uc010xfi.1_Silent_p.R222R|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.R222R|NFATC1_uc002lng.2_Silent_p.R222R|NFATC1_uc010xfk.1_Silent_p.R222R	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	235	3 X SP repeats.|2.			R -> Q (in Ref. 1; AAA19601).	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)		GTTCCCCGCGGCACTCCCCCT	0.701													5	22	---	---	---	---	PASS
PALM	5064	broad.mit.edu	37	19	746411	746411	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:746411C>A	uc002lpm.1	+	9	955	c.761C>A	c.(760-762)GCA>GAA	p.A254E	PALM_uc002lpn.1_Missense_Mutation_p.A210E|PALM_uc010xfu.1_Missense_Mutation_p.A119E	NM_002579	NP_002570	O75781	PALM_HUMAN	paralemmin isoform 1	254					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane					0		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		GCCGGGGCGGCAGAGACCCGG	0.726													3	17	---	---	---	---	PASS
ATP8B3	148229	broad.mit.edu	37	19	1783259	1783259	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1783259A>T	uc002ltw.2	-	29	3905	c.3671T>A	c.(3670-3672)GTG>GAG	p.V1224E	ATP8B3_uc002ltv.2_Missense_Mutation_p.V1187E|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1224	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTCCTCCACCTTCTCCTC	0.587													9	6	---	---	---	---	PASS
TMPRSS9	360200	broad.mit.edu	37	19	2413830	2413830	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2413830G>A	uc010xgx.1	+	9	1285	c.1285G>A	c.(1285-1287)GAC>AAC	p.D429N	TMPRSS9_uc002lvv.1_Missense_Mutation_p.D463N	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	429	Extracellular (Potential).|Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		CAGGCTACGTGACTGGATCCT	0.677													39	39	---	---	---	---	PASS
ZNF554	115196	broad.mit.edu	37	19	2834576	2834576	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2834576G>T	uc002lwm.2	+	5	1541	c.1343G>T	c.(1342-1344)CGT>CTT	p.R448L	ZNF554_uc002lwl.2_Missense_Mutation_p.R397L	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	448	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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)		TTCAGTGACCGTTCCTCTCTC	0.537													33	21	---	---	---	---	PASS
ZNF556	80032	broad.mit.edu	37	19	2877357	2877357	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2877357G>A	uc002lwp.1	+	4	488	c.401G>A	c.(400-402)CGT>CAT	p.R134H	ZNF556_uc002lwq.2_Missense_Mutation_p.R133H	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)	3				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)		AATTGTAATCGTCATCTGCGC	0.418													50	36	---	---	---	---	PASS
TMIGD2	126259	broad.mit.edu	37	19	4298101	4298101	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4298101G>T	uc002lzx.1	-	2	334	c.288C>A	c.(286-288)ACC>ACA	p.T96T	TMIGD2_uc010dtv.1_Silent_p.T96T	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain	96	Extracellular (Potential).|Ig-like.					integral to membrane					0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCTGCAGGGTGAGATGGC	0.647													51	53	---	---	---	---	PASS
C19orf70	125988	broad.mit.edu	37	19	5680464	5680464	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5680464C>A	uc002mch.1	-						C19orf70_uc002mci.1_Missense_Mutation_p.V12L|HSD11B1L_uc002mcj.2_5'Flank|HSD11B1L_uc002mcu.2_5'Flank|HSD11B1L_uc002mcl.2_5'Flank|HSD11B1L_uc002mcm.2_5'Flank|HSD11B1L_uc002mcq.2_5'Flank|HSD11B1L_uc002mcr.2_5'Flank|HSD11B1L_uc002mcs.2_5'Flank|HSD11B1L_uc010dug.2_5'Flank|HSD11B1L_uc002mct.2_5'Flank|HSD11B1L_uc002mck.2_5'Flank|HSD11B1L_uc002mco.2_5'Flank|HSD11B1L_uc002mcn.2_5'Flank|HSD11B1L_uc002mcp.2_5'Flank	NM_205767	NP_991330	Q5XKP0	QIL1_HUMAN	hypothetical protein LOC125988								protein binding				0						GGCGCCCCCACGCACCTCATC	0.642													65	56	---	---	---	---	PASS
VAV1	7409	broad.mit.edu	37	19	6853990	6853990	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6853990G>A	uc002mfu.1	+	26	2462	c.2365G>A	c.(2365-2367)GCC>ACC	p.A789T	VAV1_uc010xjh.1_Missense_Mutation_p.A757T|VAV1_uc010dva.1_Missense_Mutation_p.A767T|VAV1_uc002mfv.1_Missense_Mutation_p.A734T	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	789	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1)	16						CACAGCCAAAGCCCGCTATGA	0.542													88	79	---	---	---	---	PASS
FCER2	2208	broad.mit.edu	37	19	7762180	7762180	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7762180C>A	uc002mhn.2	-	6	442	c.258G>T	c.(256-258)ACG>ACT	p.T86T	FCER2_uc010xjs.1_Silent_p.T8T|FCER2_uc010xjt.1_Silent_p.T8T|FCER2_uc002mhm.2_Silent_p.T86T|FCER2_uc010dvo.2_Silent_p.T86T	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	86	Extracellular (Potential).|				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0						GTGAAATCTGCGTGGCTGTTT	0.552													37	31	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9012814	9012814	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9012814G>T	uc002mkp.2	-	34	38834	c.38630C>A	c.(38629-38631)TCC>TAC	p.S12877Y	MUC16_uc010xki.1_RNA	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12879	SEA 6.|Extracellular (Potential).			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GAACTTCCTGGAGCCTGGGTG	0.597													85	68	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9045689	9045689	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9045689G>T	uc002mkp.2	-	5	36146	c.35942C>A	c.(35941-35943)ACA>AAA	p.T11981K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11983	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACTGGAACCTGTGGTAGCTAA	0.498													21	21	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9046271	9046271	+	Missense_Mutation	SNP	G	T	T	rs144987884	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9046271G>T	uc002mkp.2	-	5	35564	c.35360C>A	c.(35359-35361)CCT>CAT	p.P11787H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11789	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTTGAAGCAGGAAATGTTTT	0.478													33	29	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9046272	9046272	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9046272G>T	uc002mkp.2	-	5	35563	c.35359C>A	c.(35359-35361)CCT>ACT	p.P11787T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11789	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTTGAAGCAGGAAATGTTTTA	0.473													34	28	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9072189	9072189	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072189C>A	uc002mkp.2	-	3	15461	c.15257G>T	c.(15256-15258)CGC>CTC	p.R5086L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5088	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGGTTCCAAGCGTGTACGTAA	0.433													82	81	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9072904	9072904	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072904C>G	uc002mkp.2	-	3	14746	c.14542G>C	c.(14542-14544)GTC>CTC	p.V4848L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4850	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TAAGCTGAGACAGTAGAATGT	0.443													41	42	---	---	---	---	PASS
MUC16	94025	broad.mit.edu	37	19	9076689	9076689	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9076689G>T	uc002mkp.2	-	3	10961	c.10757C>A	c.(10756-10758)ACA>AAA	p.T3586K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3587	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGATGCAGCTGTGGAAGACCA	0.488													67	46	---	---	---	---	PASS
OR7D4	125958	broad.mit.edu	37	19	9324727	9324727	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9324727C>A	uc002mla.1	-	1	787	c.787G>T	c.(787-789)GCT>TCT	p.A263S		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						TGGGTCACAGCAGAACTCAGA	0.537													54	35	---	---	---	---	PASS
ZNF846	162993	broad.mit.edu	37	19	9873983	9873983	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9873983C>G	uc002mmb.1	-	3	648	c.117G>C	c.(115-117)GAG>GAC	p.E39D	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTTGTAGTTCTCCAACATCA	0.418													98	64	---	---	---	---	PASS
S1PR2	9294	broad.mit.edu	37	19	10335161	10335161	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10335161C>A	uc002mnl.2	-	2	532	c.421G>T	c.(421-423)GGC>TGC	p.G141C		NM_004230	NP_004221	O95136	S1PR2_HUMAN	endothelial differentiation, sphingolipid	141	Cytoplasmic (By similarity).				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			lung(1)|central_nervous_system(1)	2						TTGTCGCTGCCATACAGCTTG	0.642													31	21	---	---	---	---	PASS
ICAM3	3385	broad.mit.edu	37	19	10445845	10445845	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10445845G>T	uc002mob.2	-	4	889	c.834C>A	c.(832-834)GCC>GCA	p.A278A	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Silent_p.A201A|ICAM3_uc010xlf.1_3'UTR	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	278	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCGTGGCTGTGGCTGTGGCCG	0.657													42	37	---	---	---	---	PASS
ZNF439	90594	broad.mit.edu	37	19	11978459	11978459	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11978459G>A	uc002mss.2	+	3	703	c.575G>A	c.(574-576)GGA>GAA	p.G192E	ZNF439_uc002msr.2_Missense_Mutation_p.G56E	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	192	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						AAAGAATGTGGAAAAAACATT	0.388													80	69	---	---	---	---	PASS
ASNA1	439	broad.mit.edu	37	19	12848436	12848436	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12848436G>T	uc002muv.2	+	1	131	c.117G>T	c.(115-117)TGG>TGT	p.W39C	C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Missense_Mutation_p.W39C	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	39					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	GCCTGAAGTGGATCTTCGTCG	0.627													12	16	---	---	---	---	PASS
CYP4F2	8529	broad.mit.edu	37	19	15997053	15997053	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15997053C>T	uc002nbs.1	-	8	1034	c.984G>A	c.(982-984)GAG>GAA	p.E328E	CYP4F2_uc010xot.1_Silent_p.E179E|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	328		Heme (covalent; via 1 link) (By similarity).			leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						GGCCCTCACCCTCAAACATAA	0.582													162	173	---	---	---	---	PASS
OR10H4	126541	broad.mit.edu	37	19	16060490	16060490	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16060490G>C	uc010xov.1	+	1	673	c.673G>C	c.(673-675)GCT>CCT	p.A225P		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						CTTCATTGTGGCTGCCATCTT	0.493													85	67	---	---	---	---	PASS
USHBP1	83878	broad.mit.edu	37	19	17370465	17370465	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17370465G>C	uc002nfs.1	-	6	958	c.845C>G	c.(844-846)CCC>CGC	p.P282R	USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.P218R|USHBP1_uc010eam.1_Missense_Mutation_p.P210R	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	282							PDZ domain binding			ovary(1)	1						GGGCTGGTTGGGAAGAGACCC	0.572													142	86	---	---	---	---	PASS
ANO8	57719	broad.mit.edu	37	19	17438608	17438608	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17438608G>T	uc002ngf.2	-	14	2467	c.2308C>A	c.(2308-2310)CTG>ATG	p.L770M	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	770	Helical; (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						AGGGCGCACAGCGCCGCCAGG	0.652													46	45	---	---	---	---	PASS
UNC13A	23025	broad.mit.edu	37	19	17783308	17783308	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17783308C>T	uc002nhd.2	-							NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3						AATCTCGCTGCAGAAAAAGGA	0.388													33	16	---	---	---	---	PASS
PGPEP1	54858	broad.mit.edu	37	19	18474268	18474268	+	Missense_Mutation	SNP	G	T	T	rs142770605		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18474268G>T	uc002nis.1	+	5	589	c.505G>T	c.(505-507)GTG>TTG	p.V169L	PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_Missense_Mutation_p.V92L|PGPEP1_uc010xqg.1_Missense_Mutation_p.V92L	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	169							cysteine-type peptidase activity				0						CTTCGTCCACGTGCCCCCACT	0.582													16	15	---	---	---	---	PASS
GATAD2A	54815	broad.mit.edu	37	19	19613322	19613322	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19613322G>T	uc010xqt.1	+	11	2070	c.1758G>T	c.(1756-1758)ACG>ACT	p.T586T	GATAD2A_uc010xqu.1_Silent_p.T215T|GATAD2A_uc010xqv.1_Silent_p.T606T|GATAD2A_uc010xqw.1_Silent_p.T389T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	586					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGAAGAAGACGCCCCTCAGCA	0.637													44	49	---	---	---	---	PASS
ATP13A1	57130	broad.mit.edu	37	19	19758456	19758456	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19758456C>A	uc002nnh.3	-	20	2773	c.2745G>T	c.(2743-2745)AAG>AAT	p.K915N	ATP13A1_uc002nne.2_Missense_Mutation_p.K55N|ATP13A1_uc002nnf.3_Missense_Mutation_p.K283N|ATP13A1_uc002nng.2_Missense_Mutation_p.K797N	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	ATPase type 13A1	915	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(3)|large_intestine(2)|central_nervous_system(1)	6						CCGACCGCTGCTTGGCTGTCC	0.692													10	16	---	---	---	---	PASS
ZNF676	163223	broad.mit.edu	37	19	22363556	22363556	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22363556G>T	uc002nqs.1	-	3	1281	c.963C>A	c.(961-963)TCC>TCA	p.S321S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	321	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGCTTGAGGACCAGCTGA	0.428													37	79	---	---	---	---	PASS
C19orf2	8725	broad.mit.edu	37	19	30505793	30505793	+	Splice_Site	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30505793G>T	uc002nsr.2	+	11	1456	c.1426_splice	c.e11-1	p.A476_splice	C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Splice_Site_p.A436_splice|C19orf2_uc002nst.2_Splice_Site_p.A400_splice	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a						protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)		TTGTTTTCTAGGCTTTTTCTG	0.368													61	143	---	---	---	---	PASS
ZNF536	9745	broad.mit.edu	37	19	30936088	30936088	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30936088A>T	uc002nsu.1	+	2	1757	c.1619A>T	c.(1618-1620)AAA>ATA	p.K540I	ZNF536_uc010edd.1_Missense_Mutation_p.K540I	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)					TTCTTGTCTAAAGAGCATCCG	0.587													55	108	---	---	---	---	PASS
DPY19L3	147991	broad.mit.edu	37	19	32955672	32955672	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:32955672G>T	uc002ntg.2	+	15	1772	c.1596G>T	c.(1594-1596)CTG>CTT	p.L532L	DPY19L3_uc002nth.1_Silent_p.L532L|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	532	Helical; (Potential).					integral to membrane		p.L532V(1)		ovary(4)	4	Esophageal squamous(110;0.162)					TATTAATACTGCTGTATCTAT	0.234													39	77	---	---	---	---	PASS
RHPN2	85415	broad.mit.edu	37	19	33490526	33490526	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33490526G>A	uc002nuf.2	-	10	1257	c.1191C>T	c.(1189-1191)GCC>GCT	p.A397A	RHPN2_uc010xro.1_Silent_p.A246A|RHPN2_uc002nue.2_Silent_p.A127A	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	397	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TCTTCAGTGTGGCCAAGGGTG	0.622													5	82	---	---	---	---	PASS
WDR88	126248	broad.mit.edu	37	19	33623155	33623155	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33623155A>T	uc002nui.2	+	1	158	c.80A>T	c.(79-81)GAG>GTG	p.E27V		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	PQQ repeat and WD repeat domain containing	27										ovary(1)|breast(1)|central_nervous_system(1)	3	Esophageal squamous(110;0.137)					CCCGCCAGCGAGTATTGTCCC	0.701													40	131	---	---	---	---	PASS
LGI4	163175	broad.mit.edu	37	19	35617781	35617781	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35617781A>T	uc002nxx.2	-	7	1363	c.769T>A	c.(769-771)TTC>ATC	p.F257I	LGI4_uc002nxy.1_Missense_Mutation_p.F85I|LGI4_uc002nxz.1_Missense_Mutation_p.F85I	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	257						extracellular region				pancreas(1)	1	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCGGGCCGGAAGCGCTGCAGG	0.677													11	25	---	---	---	---	PASS
CD22	933	broad.mit.edu	37	19	35835768	35835768	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35835768G>A	uc010edt.2	+	10	2149	c.2072G>A	c.(2071-2073)GGA>GAA	p.G691E	CD22_uc010xst.1_Missense_Mutation_p.G519E|CD22_uc010edu.2_Missense_Mutation_p.G603E|CD22_uc010edv.2_Missense_Mutation_p.G691E|CD22_uc002nzb.3_Missense_Mutation_p.G514E|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	691	Helical; (Potential).				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTGGCTGTGGGACTCGGGTCC	0.622													33	128	---	---	---	---	PASS
HAUS5	23354	broad.mit.edu	37	19	36113796	36113796	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36113796G>T	uc002oam.1	+	19	1854	c.1803G>T	c.(1801-1803)CAG>CAT	p.Q601H		NM_015302	NP_056117	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	601					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle					0						AGCCAGGCCAGGCCGCCCTCT	0.662													57	78	---	---	---	---	PASS
MLL4	9757	broad.mit.edu	37	19	36214714	36214714	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36214714G>A	uc010eei.2	+	9	3140	c.3140G>A	c.(3139-3141)CGG>CAG	p.R1047Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1047					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCCACGCCGGGGGGCGGGA	0.701													6	14	---	---	---	---	PASS
KIRREL2	84063	broad.mit.edu	37	19	36352130	36352130	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36352130C>A	uc002ocb.3	+	9	1375	c.1163C>A	c.(1162-1164)GCC>GAC	p.A388D	KIRREL2_uc002obz.3_Missense_Mutation_p.A388D|KIRREL2_uc002oca.3_Missense_Mutation_p.A338D|KIRREL2_uc002occ.3_Missense_Mutation_p.A335D|KIRREL2_uc002ocd.3_Missense_Mutation_p.A385D	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	388	Extracellular (Potential).|Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGGGCGGCGCCGCGGAGGCT	0.692													12	8	---	---	---	---	PASS
ALKBH6	84964	broad.mit.edu	37	19	36505092	36505092	+	5'Flank	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36505092C>T	uc002oct.2	-						ALKBH6_uc002ocv.1_Missense_Mutation_p.G15E|ALKBH6_uc002ocx.1_5'UTR|ALKBH6_uc002ocw.1_Missense_Mutation_p.G15E|ALKBH6_uc010eeo.1_5'UTR|ALKBH6_uc010eep.1_Missense_Mutation_p.G15E|uc002ocy.2_5'Flank	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 isoform 2							cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACCAGCGTCCCCTCCAATTTC	0.592													26	68	---	---	---	---	PASS
ZNF585B	92285	broad.mit.edu	37	19	37676857	37676857	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37676857C>A	uc002ofq.2	-	5	1836	c.1582G>T	c.(1582-1584)GGA>TGA	p.G528*	uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Nonsense_Mutation_p.G342*	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	zinc finger protein 585B	528	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCTTTTCCACAAGTATTG	0.408													36	117	---	---	---	---	PASS
ZNF781	163115	broad.mit.edu	37	19	38160624	38160624	+	Silent	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38160624T>C	uc002ogy.2	-	4	1168	c.426A>G	c.(424-426)AGA>AGG	p.R142R	ZNF781_uc002ogz.2_Silent_p.R137R	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCGTAAAGTCTCTCATCAGTG	0.373													93	67	---	---	---	---	PASS
ZNF781	163115	broad.mit.edu	37	19	38161015	38161015	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38161015G>T	uc002ogy.2	-	4	777	c.35C>A	c.(34-36)GCA>GAA	p.A12E	ZNF781_uc002ogz.2_Missense_Mutation_p.A7E	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGCAGTCTCTGCCACATTCTT	0.343													92	67	---	---	---	---	PASS
RYR1	6261	broad.mit.edu	37	19	38991614	38991614	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38991614C>A	uc002oit.2	+	47	7728	c.7598C>A	c.(7597-7599)GCC>GAC	p.A2533D	RYR1_uc002oiu.2_Missense_Mutation_p.A2533D|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2533	Cytoplasmic.|6 X approximate repeats.				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)	ATGAGGGCAGCCGCCTCGCTG	0.642													19	12	---	---	---	---	PASS
RINL	126432	broad.mit.edu	37	19	39362466	39362466	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39362466G>A	uc002ojq.2	-	5	404	c.16C>T	c.(16-18)CAT>TAT	p.H6Y	RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.H120Y	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	6							GTPase activator activity			pancreas(1)	1						GCCAGGAGATGGGGCAGGTCT	0.567													48	31	---	---	---	---	PASS
IL28B	282617	broad.mit.edu	37	19	39735418	39735418	+	Intron	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39735418G>A	uc010xut.1	-						IL28B_uc010xuu.1_Intron	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B						response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAGGGCAGGGGGAGACTCACT	0.607													14	18	---	---	---	---	PASS
ZNF780A	284323	broad.mit.edu	37	19	40582127	40582127	+	Intron	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40582127T>A	uc002omy.2	-						ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Intron|ZNF780A_uc010xvh.1_Intron	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTGAAAGAAATGAAGAAAGCA	0.303													27	33	---	---	---	---	PASS
ARHGEF1	9138	broad.mit.edu	37	19	42396400	42396400	+	Splice_Site	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42396400A>C	uc002orx.2	+	6	434	c.325_splice	c.e6-2	p.V109_splice	ARHGEF1_uc002orw.1_Splice_Site_p.V109_splice|ARHGEF1_uc002ory.2_Splice_Site_p.V76_splice|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Splice_Site_p.V124_splice|ARHGEF1_uc002osb.2_Splice_Site_p.V91_splice	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform						cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TCTCTTGAGCAGGTTCTCCGG	0.607													46	248	---	---	---	---	PASS
POU2F2	5452	broad.mit.edu	37	19	42600276	42600276	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42600276G>T	uc002osp.2	-	8	688	c.621C>A	c.(619-621)GCC>GCA	p.A207A	POU2F2_uc002osn.2_Silent_p.A191A|POU2F2_uc002oso.2_5'UTR|POU2F2_uc002osq.2_Silent_p.A191A|POU2F2_uc002osr.1_Silent_p.A207A	NM_002698	NP_002689	P09086	PO2F2_HUMAN	POU domain, class 2, transcription factor 2	207	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2		Prostate(69;0.059)				TGAAGGTGCGGGCGAATTGCT	0.662													16	19	---	---	---	---	PASS
PSG6	5675	broad.mit.edu	37	19	43414914	43414914	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43414914G>T	uc002ovj.1	-	3	576	c.524C>A	c.(523-525)GCA>GAA	p.A175E	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.A182E|PSG6_uc002ovi.2_Missense_Mutation_p.A176E|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.A175E|PSG6_uc002ovg.1_Missense_Mutation_p.A175E	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	175	Ig-like C2-type 1.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				CAGGTAGCTTGCATCCGGAGT	0.527													73	247	---	---	---	---	PASS
PSG7	5676	broad.mit.edu	37	19	43433662	43433662	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43433662G>T	uc002ovl.3	-	4	743	c.641C>A	c.(640-642)CCC>CAC	p.P214H	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_Missense_Mutation_p.P33H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.P92H	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	214	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				ACATTCATAGGGTCCTGCAGT	0.512													111	476	---	---	---	---	PASS
PSG2	5670	broad.mit.edu	37	19	43575854	43575854	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43575854G>A	uc002ovr.2	-	4	1055	c.962C>T	c.(961-963)TCT>TTT	p.S321F	PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.S321F|PSG2_uc010eiq.1_Missense_Mutation_p.S321F|PSG2_uc002ovs.3_Missense_Mutation_p.S321F|PSG2_uc002ovt.3_Missense_Mutation_p.S321F	NM_031246	NP_112536	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	321					cell migration|female pregnancy	extracellular region					0		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.473													65	276	---	---	---	---	PASS
PSG9	5678	broad.mit.edu	37	19	43757755	43757755	+	3'UTR	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43757755T>C	uc002owd.3	-	6					PSG9_uc002owe.3_3'UTR|PSG9_uc010xwm.1_3'UTR|PSG9_uc002owf.3_3'UTR	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				GTCTCAGTtgttgcagtcatg	0.095													68	41	---	---	---	---	PASS
XRCC1	7515	broad.mit.edu	37	19	44065074	44065074	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44065074C>G	uc002owt.2	-	3	363	c.243G>C	c.(241-243)GAG>GAC	p.E81D	XRCC1_uc010xwp.1_Missense_Mutation_p.E50D	NM_006297	NP_006288	P18887	XRCC1_HUMAN	X-ray repair cross complementing protein 1	81					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7		Prostate(69;0.0153)				CATAGTCTTGCTCCCCAGCGC	0.582								Other_BER_factors					109	174	---	---	---	---	PASS
KCNN4	3783	broad.mit.edu	37	19	44273990	44273990	+	Intron	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44273990A>C	uc002oxl.2	-						KCNN4_uc010eiz.2_Intron	NM_002250	NP_002241	O15554	KCNN4_HUMAN	intermediate conductance calcium-activated						defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCctgtgggcacagcaggcac	0.269													20	76	---	---	---	---	PASS
ZNF283	284349	broad.mit.edu	37	19	44352080	44352080	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44352080G>T	uc002oxr.3	+	7	1595	c.1327G>T	c.(1327-1329)GGC>TGC	p.G443C	ZNF283_uc002oxp.3_Missense_Mutation_p.G304C	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	443	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)				CTTTAGTCGTGGCTATCACCT	0.388													19	108	---	---	---	---	PASS
CKM	1158	broad.mit.edu	37	19	45822880	45822880	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45822880G>A	uc002pbd.2	-	2	166	c.92C>T	c.(91-93)GCC>GTC	p.A31V		NM_001824	NP_001815	P06732	KCRM_HUMAN	muscle creatine kinase	31	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			skin(1)	1		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CAGTACCTTGGCCATGTGGTT	0.517													46	171	---	---	---	---	PASS
GPR4	2828	broad.mit.edu	37	19	46094288	46094288	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46094288A>G	uc002pcm.2	-	2	1782	c.837T>C	c.(835-837)TGT>TGC	p.C279C	OPA3_uc010xxk.1_Intron	NM_005282	NP_005273	P46093	GPR4_HUMAN	G protein-coupled receptor 4	279	Helical; Name=7; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGTCCGCCACACAGTTGAGGC	0.652													25	38	---	---	---	---	PASS
SYMPK	8189	broad.mit.edu	37	19	46332347	46332347	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46332347C>A	uc002pdn.2	-	14	2111	c.1866G>T	c.(1864-1866)TGG>TGT	p.W622C	SYMPK_uc002pdo.1_Missense_Mutation_p.W622C|SYMPK_uc002pdp.1_Missense_Mutation_p.W622C	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	622					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCTGGTAGAGCCAGGCGAAGG	0.642													47	74	---	---	---	---	PASS
CCDC8	83987	broad.mit.edu	37	19	46914865	46914865	+	Silent	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46914865T>C	uc002pep.2	-	1	2055	c.1203A>G	c.(1201-1203)TCA>TCG	p.S401S		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	401						plasma membrane				ovary(3)	3				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGTAACCTCTGACCCCTGGT	0.607													40	144	---	---	---	---	PASS
DHX34	9704	broad.mit.edu	37	19	47858496	47858496	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47858496G>T	uc010xyn.1	+	3	1247	c.906G>T	c.(904-906)CGG>CGT	p.R302R	DHX34_uc010elc.1_Silent_p.R302R	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	302	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGCCCACGCGGCCTGACCTCA	0.587													102	127	---	---	---	---	PASS
CABP5	56344	broad.mit.edu	37	19	48547117	48547117	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48547117C>A	uc002phu.1	-	1	188	c.63G>T	c.(61-63)CGG>CGT	p.R21R		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	calcium binding protein 5	21					signal transduction	cytoplasm	calcium ion binding			skin(1)	1		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)		cccacctcacccGCTGTTTCT	0.378													28	32	---	---	---	---	PASS
RUVBL2	10856	broad.mit.edu	37	19	49513873	49513873	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49513873G>T	uc002plr.1	+						RUVBL2_uc002plq.1_Intron|RUVBL2_uc002pls.1_Intron|RUVBL2_uc010emn.1_Intron|RUVBL2_uc010yac.1_Intron	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	RuvB-like 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCTCAGGTGAGGCCCCTcctg	0.557													14	61	---	---	---	---	PASS
C19orf73	55150	broad.mit.edu	37	19	49622256	49622256	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49622256T>A	uc002pmq.3	-	1	142	c.24A>T	c.(22-24)CAA>CAT	p.Q8H	PPFIA3_uc002pmr.2_5'Flank|PPFIA3_uc010yai.1_5'Flank	NM_018111	NP_060581	Q9NVV2	CS073_HUMAN	hypothetical protein LOC55150	8										large_intestine(1)	1						AGCCCCCGCCTTGAAATCCAA	0.706													19	59	---	---	---	---	PASS
CPT1C	126129	broad.mit.edu	37	19	50209485	50209485	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50209485C>T	uc002ppj.2	+						CPT1C_uc002ppl.3_Intron|CPT1C_uc002ppi.2_Intron|CPT1C_uc002ppk.2_Intron|CPT1C_uc010eng.2_Intron|CPT1C_uc010enh.2_Intron|CPT1C_uc010ybc.1_Intron|CPT1C_uc010eni.1_Intron	NM_152359	NP_689572	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C isoform 2						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)		CCGGGCCCTCCAGGGGCACGT	0.687													4	14	---	---	---	---	PASS
TSKS	60385	broad.mit.edu	37	19	50266502	50266502	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50266502C>A	uc002ppm.2	-	1	14	c.3G>T	c.(1-3)ATG>ATT	p.M1I		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	testis-specific kinase substrate	1							protein binding			large_intestine(1)|skin(1)	2		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCACGCTCGCCATGGTGTGGG	0.637													39	121	---	---	---	---	PASS
SPIB	6689	broad.mit.edu	37	19	50925809	50925809	+	Intron	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50925809G>T	uc002psd.2	+						SPIB_uc002pse.2_Intron|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)						regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTGGTGAGTGACCCCAGCCC	0.403													9	34	---	---	---	---	PASS
C19orf75	284369	broad.mit.edu	37	19	51770668	51770668	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51770668C>T	uc002pwb.1	+	5	833	c.452C>T	c.(451-453)GCG>GTG	p.A151V	C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.A57V	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	151						integral to membrane				ovary(1)|pancreas(1)	2						AAAGCTGCAGCGATCAGAGCA	0.468													34	171	---	---	---	---	PASS
SIGLEC12	89858	broad.mit.edu	37	19	52003232	52003232	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52003232C>A	uc002pwx.1	-	2	806	c.750G>T	c.(748-750)GTG>GTT	p.V250V	SIGLEC12_uc002pww.1_Silent_p.V132V|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	250	Ig-like V-type 2.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTCCTCTCTCCACCTGGAAGT	0.537													37	115	---	---	---	---	PASS
SIGLEC12	89858	broad.mit.edu	37	19	52004701	52004701	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52004701A>G	uc002pwx.1	-	1	343	c.287T>C	c.(286-288)CTT>CCT	p.L96P	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	96	Ig-like V-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGGGTCCCCAAGGAGGTGGAA	0.537													66	147	---	---	---	---	PASS
SIGLEC5	8778	broad.mit.edu	37	19	52132608	52132608	+	Intron	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52132608C>G	uc002pxe.2	-							NM_003830	NP_003821	O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5 precursor						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)		CAGCACCACTCACAGGAGACA	0.488													40	76	---	---	---	---	PASS
SIGLEC14	100049587	broad.mit.edu	37	19	52148737	52148737	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52148737T>A	uc002pxf.3	-	4	867	c.747A>T	c.(745-747)ACA>ACT	p.T249T		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14 precursor	249	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			ovary(1)	1		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TACCTGTGCCTGTGCCATTTC	0.552													23	147	---	---	---	---	PASS
FPR2	2358	broad.mit.edu	37	19	52272532	52272532	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52272532C>A	uc002pxr.2	+	2	666	c.621C>A	c.(619-621)GTC>GTA	p.V207V	FPR2_uc002pxs.3_Silent_p.V207V|FPR2_uc010epf.2_Silent_p.V207V	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	207	Helical; Name=5; (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4						TCCGGTTTGTCATTGGCTTTA	0.507													20	101	---	---	---	---	PASS
ZNF534	147658	broad.mit.edu	37	19	52938435	52938435	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52938435A>T	uc002pzk.2	+	3	344	c.283A>T	c.(283-285)AGG>TGG	p.R95W	ZNF534_uc002pzj.1_Missense_Mutation_p.R82W|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.R82W	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	zinc finger protein 534 isoform 2	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCCAGATGGCAGGGAGTGCAT	0.398													17	37	---	---	---	---	PASS
ZNF701	55762	broad.mit.edu	37	19	53086575	53086575	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53086575C>A	uc002pzs.1	+	4	1390	c.1263C>A	c.(1261-1263)CAC>CAA	p.H421Q	ZNF701_uc010ydn.1_Missense_Mutation_p.H487Q	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	zinc finger protein 701	421	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TTTTTAATCACAAATCAAACC	0.358													14	65	---	---	---	---	PASS
ZNF137	7696	broad.mit.edu	37	19	53100244	53100244	+	RNA	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53100244G>C	uc002pzt.2	+	1		c.308G>C				NR_023311				Homo sapiens zinc finger protein 137, mRNA (cDNA clone IMAGE:40016639).												0				GBM - Glioblastoma multiforme(134;0.0212)|OV - Ovarian serous cystadenocarcinoma(262;0.0221)		AATCCATGGTGTAGGGAAACT	0.383													21	32	---	---	---	---	PASS
ZNF600	162966	broad.mit.edu	37	19	53269553	53269553	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53269553C>A	uc002qab.3	-	3	1742	c.1456G>T	c.(1456-1458)GCA>TCA	p.A486S		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	486	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTATGTTTTGCCAGATAGGAA	0.428													87	151	---	---	---	---	PASS
ZNF320	162967	broad.mit.edu	37	19	53385191	53385191	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53385191T>G	uc002qag.2	-	4	379	c.188A>C	c.(187-189)CAA>CCA	p.Q63P	ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.Q9P|ZNF320_uc002qai.2_Missense_Mutation_p.Q63P	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	zinc finger protein 320	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0534)		TGTATTGCCTTGCCCTGTTGA	0.378													108	164	---	---	---	---	PASS
ZNF160	90338	broad.mit.edu	37	19	53572005	53572005	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53572005C>A	uc010eqk.2	-	7	2198	c.1782G>T	c.(1780-1782)AAG>AAT	p.K594N	ZNF160_uc002qaq.3_Missense_Mutation_p.K594N|ZNF160_uc002qar.3_Missense_Mutation_p.K594N	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	594	C2H2-type 13.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(134;0.02)		AGTCATTACACTTGTAAGGTT	0.408													59	101	---	---	---	---	PASS
BIRC8	112401	broad.mit.edu	37	19	53792943	53792943	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53792943A>T	uc002qbk.2	-	1	1933	c.685T>A	c.(685-687)TTC>ATC	p.F229I		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	229					apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		CTTTGCTTGAAATCAATAACC	0.383													126	152	---	---	---	---	PASS
BIRC8	112401	broad.mit.edu	37	19	53793364	53793364	+	Silent	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53793364C>T	uc002qbk.2	-	1	1512	c.264G>A	c.(262-264)GAG>GAA	p.E88E		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat-containing 8	88					apoptosis		zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(134;0.00304)		CCAGAGCTCCCTCAAGTGAAC	0.393													79	117	---	---	---	---	PASS
ZNF761	388561	broad.mit.edu	37	19	53958872	53958872	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53958872T>A	uc010eqp.2	+	7	1569	c.1111T>A	c.(1111-1113)TGC>AGC	p.C371S	ZNF761_uc010ydy.1_Missense_Mutation_p.C317S|ZNF761_uc002qbt.1_Missense_Mutation_p.C317S	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	zinc finger protein 761	371	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.00786)		ATCCCTTACATGCCATCATAG	0.428													45	227	---	---	---	---	PASS
ZNF813	126017	broad.mit.edu	37	19	53995065	53995065	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53995065G>T	uc002qbu.2	+	4	1707	c.1579G>T	c.(1579-1581)GAA>TAA	p.E527*	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	527	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CAAGTGTAATGAATGTGGCAA	0.373													22	44	---	---	---	---	PASS
ZNF813	126017	broad.mit.edu	37	19	53995209	53995209	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53995209G>T	uc002qbu.2	+	4	1851	c.1723G>T	c.(1723-1725)GGA>TGA	p.G575*	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ACTTCATACTGGAGAGAAACC	0.373													20	40	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	19	54291000	54291000	+	5'Flank	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54291000T>A	uc010yed.1	+						MIR372_hsa-mir-372|MI0000780_5'Flank|uc010yee.1_5'Flank|MIR373_hsa-mir-373|MI0000781_5'Flank					DM004700																		TGTTACCGCTTGAGAAGACTC	0.562													31	43	---	---	---	---	PASS
NLRP12	91662	broad.mit.edu	37	19	54301541	54301541	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54301541C>G	uc002qch.3	-	8	3103	c.2883G>C	c.(2881-2883)CTG>CTC	p.L961L	NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Silent_p.L962L|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	961	LRR 5.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCCCTCAGCCAGCAACCACA	0.622													45	55	---	---	---	---	PASS
NLRP12	91662	broad.mit.edu	37	19	54307228	54307228	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54307228C>T	uc002qch.3	-	6	2783	c.2563G>A	c.(2563-2565)GTC>ATC	p.V855I	NLRP12_uc010eqw.2_Missense_Mutation_p.V138I|NLRP12_uc002qci.3_Missense_Mutation_p.V855I|NLRP12_uc002qcj.3_Missense_Mutation_p.V856I|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.V856I	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	855					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGTCTGCAGACTGGGTGCCTC	0.473													19	39	---	---	---	---	PASS
NLRP12	91662	broad.mit.edu	37	19	54313686	54313686	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54313686C>A	uc002qch.3	-	3	1447	c.1227G>T	c.(1225-1227)GTG>GTT	p.V409V	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.V409V|NLRP12_uc002qcj.3_Silent_p.V409V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.V409V	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	409	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTACACACCACCCAGCACA	0.577													46	180	---	---	---	---	PASS
MYADM	91663	broad.mit.edu	37	19	54377184	54377184	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54377184G>A	uc002qcl.2	+	3	549	c.401G>A	c.(400-402)CGG>CAG	p.R134Q	MYADM_uc002qcm.2_Missense_Mutation_p.R134Q|MYADM_uc002qcn.2_Missense_Mutation_p.R134Q|MYADM_uc002qco.2_Missense_Mutation_p.R134Q|MYADM_uc002qcp.2_Missense_Mutation_p.R134Q	NM_001020820	NP_001018656	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	134	MARVEL 1.					integral to membrane				ovary(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GGCCGTTCGCGGGACCACGCC	0.662													29	95	---	---	---	---	PASS
CACNG7	59284	broad.mit.edu	37	19	54418756	54418756	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54418756T>A	uc002qcr.1	+	3	436	c.421T>A	c.(421-423)TCG>ACG	p.S141T	CACNG7_uc010era.1_Missense_Mutation_p.S141T	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	141	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTTCATACTATCGGGTGAGCC	0.413													20	46	---	---	---	---	PASS
TSEN34	79042	broad.mit.edu	37	19	54695431	54695431	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54695431G>A	uc002qdu.2	+	2	325	c.216G>A	c.(214-216)CCG>CCA	p.P72P	MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Silent_p.P72P|TSEN34_uc002qdv.2_Silent_p.P72P|TSEN34_uc002qdw.2_Silent_p.P72P	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	tRNA-intron endonuclease 34	72					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGCGCCCCGCGTCCAGACT	0.697													9	27	---	---	---	---	PASS
LILRA5	353514	broad.mit.edu	37	19	54823819	54823819	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54823819G>T	uc002qfe.2	-	2	196	c.76C>A	c.(76-78)CTG>ATG	p.L26M	LILRA5_uc002qff.2_Missense_Mutation_p.L26M|LILRA5_uc010yev.1_Missense_Mutation_p.L26M|LILRA5_uc010yew.1_Missense_Mutation_p.L26M|LILRA5_uc002qfh.1_Missense_Mutation_p.L26M|LILRA5_uc002qfg.1_Missense_Mutation_p.L26M	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	26					innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGCAGAGCAGAACCATGAGG	0.612													23	40	---	---	---	---	PASS
LILRA4	23547	broad.mit.edu	37	19	54848414	54848414	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54848414C>A	uc002qfj.2	-	6	1010	c.953G>T	c.(952-954)GGA>GTA	p.G318V	LILRA4_uc002qfi.2_Missense_Mutation_p.G252V	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	318	Extracellular (Potential).					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGAGATCTGTCCTGGAGAAAA	0.607													15	31	---	---	---	---	PASS
LILRB4	11006	broad.mit.edu	37	19	55179429	55179429	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55179429C>A	uc002qgp.2	+	12	1668	c.1306C>A	c.(1306-1308)CCA>ACA	p.P436T	LILRB4_uc002qgq.2_Missense_Mutation_p.P435T|LILRB4_uc002qgr.2_Missense_Mutation_p.P478T|LILRB4_uc010ert.2_Missense_Mutation_p.P477T|LILRB4_uc010eru.2_Missense_Mutation_p.P466T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	436	Cytoplasmic (Potential).					integral to membrane|plasma membrane	antigen binding|receptor activity			ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)		AGGGGCCTCTCCAGCTGAGCC	0.602													49	98	---	---	---	---	PASS
KIR2DL4	3805	broad.mit.edu	37	19	55315366	55315366	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55315366G>T	uc010yfm.1	+	2	101	c.61G>T	c.(61-63)GTG>TTG	p.V21L	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.V16L|KIR2DL4_uc002qhg.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhi.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhh.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhj.2_Missense_Mutation_p.V21L|KIR2DL4_uc002qhf.2_Missense_Mutation_p.V21L|KIR2DL4_uc010esd.2_Missense_Mutation_p.V21L|KIR2DL4_uc010ese.2_5'Flank	NM_002255	NP_002246	Q99706	KI2L4_HUMAN	killer cell immunoglobulin-like receptor, two	21					cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0192)		GGACCAGAGTGTGTGGGCACA	0.532													82	113	---	---	---	---	PASS
NLRP13	126204	broad.mit.edu	37	19	56443408	56443408	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56443408C>A	uc010ygg.1	-	1	295	c.270G>T	c.(268-270)CAG>CAT	p.Q90H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	90	DAPIN.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GATTCATTGTCTGGAAGATGC	0.512													24	107	---	---	---	---	PASS
NLRP8	126205	broad.mit.edu	37	19	56466446	56466446	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56466446C>A	uc002qmh.2	+	3	1093	c.1022C>A	c.(1021-1023)ACA>AAA	p.T341K	NLRP8_uc010etg.2_Missense_Mutation_p.T341K	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	341	NACHT.					cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTTGGCAGACATGCAAGCCC	0.458													79	95	---	---	---	---	PASS
NLRP8	126205	broad.mit.edu	37	19	56487655	56487655	+	Silent	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56487655A>G	uc002qmh.2	+	8	2933	c.2862A>G	c.(2860-2862)ACA>ACG	p.T954T	NLRP8_uc010etg.2_Silent_p.T935T	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	954						cytoplasm	ATP binding			ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGACTGTACATTACAGATCC	0.453													49	62	---	---	---	---	PASS
ZNF470	388566	broad.mit.edu	37	19	57086048	57086048	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57086048C>A	uc002qnl.3	+	5	905	c.229C>A	c.(229-231)CAA>AAA	p.Q77K	ZNF470_uc010etn.2_RNA	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTTACTGGAGCAAGAGAAAGA	0.418													20	70	---	---	---	---	PASS
ZNF835	90485	broad.mit.edu	37	19	57175464	57175464	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57175464C>G	uc010ygo.1	-	2	1169	c.1169G>C	c.(1168-1170)GGC>GCC	p.G390A	ZNF835_uc010ygn.1_Missense_Mutation_p.G368A	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						GAAGCGCTTGCCGCAGTCGTG	0.701													5	22	---	---	---	---	PASS
USP29	57663	broad.mit.edu	37	19	57642468	57642468	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57642468G>T	uc002qny.2	+	4	2781	c.2425G>T	c.(2425-2427)GAA>TAA	p.E809*		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	809					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGCCAAGGAACTAACAAG	0.478													16	24	---	---	---	---	PASS
ZIM3	114026	broad.mit.edu	37	19	57646928	57646928	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57646928G>T	uc002qnz.1	-	5	1163	c.777C>A	c.(775-777)GCC>GCA	p.A259A		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	259	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCAGGAAAAGGCTTTTCCAC	0.368													65	142	---	---	---	---	PASS
ZNF304	57343	broad.mit.edu	37	19	57868780	57868780	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57868780A>T	uc010ygw.1	+	3	1931	c.1543A>T	c.(1543-1545)AGC>TGC	p.S515C	ZNF304_uc010etw.2_Missense_Mutation_p.S562C|ZNF304_uc010etx.2_Missense_Mutation_p.S473C	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	515	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		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;0.0265)		CTTCAGCCATAGCTCCAACCT	0.443													11	39	---	---	---	---	PASS
ZNF419	79744	broad.mit.edu	37	19	58003603	58003603	+	Intron	SNP	G	T	T	rs147538695	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58003603G>T	uc002qov.2	+						ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Intron|ZNF419_uc010etz.1_Intron|ZNF419_uc010eua.1_Intron|ZNF419_uc002qow.2_Intron|ZNF419_uc010eub.1_Intron|ZNF419_uc010euc.1_Intron	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN	zinc finger protein 419 isoform 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		GGAGCTCAGGGAGGTGTGAAC	0.488													62	86	---	---	---	---	PASS
ZNF417	147687	broad.mit.edu	37	19	58420355	58420355	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58420355T>C	uc002qqq.2	-	3	1490	c.1291A>G	c.(1291-1293)ACT>GCT	p.T431A	ZNF417_uc010yhm.1_Missense_Mutation_p.T388A|ZNF417_uc002qqr.2_Missense_Mutation_p.T430A	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTTTCCCCAGTGTGAAGTCTC	0.443													65	81	---	---	---	---	PASS
ZSCAN1	284312	broad.mit.edu	37	19	58565188	58565188	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58565188C>G	uc002qrc.1	+	6	1243	c.996C>G	c.(994-996)AAC>AAG	p.N332K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	332	C2H2-type 2.				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)		TCCTGCACAACTCCGTCCTCA	0.637													36	55	---	---	---	---	PASS
ZNF135	7694	broad.mit.edu	37	19	58578318	58578318	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58578318G>C	uc010yhq.1	+	5	598	c.502G>C	c.(502-504)GTT>CTT	p.V168L	ZNF135_uc002qre.2_Missense_Mutation_p.V156L|ZNF135_uc002qrd.1_Missense_Mutation_p.V114L|ZNF135_uc002qrf.2_Missense_Mutation_p.V114L|ZNF135_uc002qrg.2_Missense_Mutation_p.V126L|ZNF135_uc010yhr.1_5'UTR	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	168					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAAGACGCCTGTTCTGGAGCA	0.557													39	66	---	---	---	---	PASS
ZNF329	79673	broad.mit.edu	37	19	58639368	58639368	+	Missense_Mutation	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58639368A>C	uc002qrn.2	-	4	1740	c.1503T>G	c.(1501-1503)CAT>CAG	p.H501Q	ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	zinc finger protein 329	501	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGAGTCTCTGATGTACTGCCA	0.512													61	221	---	---	---	---	PASS
DEFB128	245939	broad.mit.edu	37	20	170231	170231	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:170231A>T	uc002wcz.1	-	1	34	c.34T>A	c.(34-36)TTT>ATT	p.F12I		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	beta-defensin 128 precursor	12					defense response to bacterium	extracellular region				breast(1)	1		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AGTACCTCAAACAGCAGAATA	0.383													71	77	---	---	---	---	PASS
TRIB3	57761	broad.mit.edu	37	20	377002	377002	+	Missense_Mutation	SNP	G	T	T	rs141572809	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:377002G>T	uc002wdm.2	+	4	1251	c.745G>T	c.(745-747)GTG>TTG	p.V249L	TRIB3_uc002wdn.2_Missense_Mutation_p.V276L	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	tribbles 3	249	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			central_nervous_system(2)	2		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GAGCCTGGGCGTGGCGCTCTT	0.667													30	24	---	---	---	---	PASS
TGM6	343641	broad.mit.edu	37	20	2375200	2375200	+	Nonsense_Mutation	SNP	C	A	A	rs140181785	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2375200C>A	uc002wfy.1	+	2	171	c.110C>A	c.(109-111)TCG>TAG	p.S37*	TGM6_uc010gal.1_Nonsense_Mutation_p.S37*	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	37					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AGGGGCCAGTCGTTCAGCCTC	0.617													10	8	---	---	---	---	PASS
TGM6	343641	broad.mit.edu	37	20	2398085	2398085	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2398085T>A	uc002wfy.1	+	10	1605	c.1544T>A	c.(1543-1545)CTG>CAG	p.L515Q	TGM6_uc010gal.1_Missense_Mutation_p.L515Q	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	515					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	AGACTGGCCCTGTGCTTGGCC	0.642													27	14	---	---	---	---	PASS
IDH3B	3420	broad.mit.edu	37	20	2641176	2641176	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2641176C>A	uc002wgp.2	-	7	601	c.592G>T	c.(592-594)GCA>TCA	p.A198S	IDH3B_uc002wgq.2_Missense_Mutation_p.A198S|IDH3B_uc002wgr.2_Missense_Mutation_p.A46S|IDH3B_uc010zpz.1_3'UTR	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	198					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	GCGAACTTTGCAATCCGCTGA	0.527													51	31	---	---	---	---	PASS
CPXM1	56265	broad.mit.edu	37	20	2774982	2774982	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2774982C>A	uc002wgu.2	-	14	2123	c.2059G>T	c.(2059-2061)GTC>TTC	p.V687F	CPXM1_uc010gas.2_Missense_Mutation_p.V613F	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	687					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						TCAAAGGTGACCCGACAGTTC	0.627													34	30	---	---	---	---	PASS
CPXM1	56265	broad.mit.edu	37	20	2775967	2775967	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2775967C>A	uc002wgu.2	-	12	1880	c.1816G>T	c.(1816-1818)GAG>TAG	p.E606*	CPXM1_uc010gas.2_Nonsense_Mutation_p.E532*	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	carboxypeptidase X, member 1 precursor	606					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4						TTCTCCCACTCCTGGGGCAAT	0.552													46	30	---	---	---	---	PASS
C20orf194	25943	broad.mit.edu	37	20	3233244	3233244	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3233244G>C	uc002wii.2	-	37	3559	c.3508C>G	c.(3508-3510)CAT>GAT	p.H1170D	C20orf194_uc002wij.3_Missense_Mutation_p.H909D|C20orf194_uc002wik.2_Missense_Mutation_p.H844D	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	1170											0						AAGAGGTCATGATACTCCTGC	0.507													76	69	---	---	---	---	PASS
ADAM33	80332	broad.mit.edu	37	20	3660146	3660146	+	Missense_Mutation	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3660146T>G	uc002wit.2	-	2	257	c.170A>C	c.(169-171)GAG>GCG	p.E57A	ADAM33_uc002wir.1_Missense_Mutation_p.E57A|ADAM33_uc002wiu.2_Missense_Mutation_p.E57A|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Missense_Mutation_p.E57A|ADAM33_uc010gbb.1_Missense_Mutation_p.E57A|ADAM33_uc002wix.1_Missense_Mutation_p.E57A|ADAM33_uc010zqg.1_Missense_Mutation_p.E57A|ADAM33_uc010zqh.1_Missense_Mutation_p.E57A|ADAM33_uc002wiy.2_Missense_Mutation_p.E57A	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	57	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GACCGGCTCCTCCAGGCTGAC	0.612													9	12	---	---	---	---	PASS
SPEF1	25876	broad.mit.edu	37	20	3759136	3759136	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3759136C>A	uc002wjj.2	-	6	703	c.535G>T	c.(535-537)GAC>TAC	p.D179Y		NM_015417	NP_056232	Q9Y4P9	SPEF1_HUMAN	calponin-homology and microtubule-associated	179						cilium axoneme|cytoplasm|cytoskeleton					0						AAGCTGGGGTCGCCCTGCAAC	0.677													17	9	---	---	---	---	PASS
C20orf29	55317	broad.mit.edu	37	20	3802836	3802836	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3802836G>C	uc002wjs.1	+	2	250	c.72G>C	c.(70-72)CTG>CTC	p.L24L	C20orf29_uc002wjt.2_5'UTR|C20orf29_uc002wju.1_Silent_p.L24L	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN	hypothetical protein LOC55317	24					double-strand break repair via homologous recombination		protein binding			skin(1)	1						GCCGAGTGCTGTACTCCTGCG	0.602													38	33	---	---	---	---	PASS
PROKR2	128674	broad.mit.edu	37	20	5283322	5283322	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5283322C>A	uc010zqw.1	-	2	519	c.519G>T	c.(517-519)CTG>CTT	p.L173L	PROKR2_uc010zqx.1_Silent_p.L173L|PROKR2_uc010zqy.1_Silent_p.L173L	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	173	Helical; Name=4; (Potential).		L -> R (in KAL3).			integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5						CCAAGGCGATCAGGAAGGAGG	0.488										HNSCC(71;0.22)			89	98	---	---	---	---	PASS
CSTL1	128817	broad.mit.edu	37	20	23424651	23424651	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23424651C>A	uc002wte.2	+	3	546	c.300C>A	c.(298-300)TCC>TCA	p.S100S	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	100						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GCAATTCTTCCTGCCCCCTGC	0.468													13	22	---	---	---	---	PASS
CST11	140880	broad.mit.edu	37	20	23433221	23433221	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23433221C>A	uc002wtf.1	-	1	262	c.228G>T	c.(226-228)CAG>CAT	p.Q76H	CST11_uc002wtg.1_Missense_Mutation_p.Q76H	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	76	Secondary area of contact (Potential).				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATACACTCACCTGCCTCTGGA	0.527													48	34	---	---	---	---	PASS
PYGB	5834	broad.mit.edu	37	20	25263802	25263802	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25263802C>A	uc002wup.2	+							NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase						glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	GGAACCTTTACGTTCTCCAGA	0.617													29	31	---	---	---	---	PASS
NANP	140838	broad.mit.edu	37	20	25596915	25596915	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25596915C>A	uc002wuy.2	-	2	457	c.393G>T	c.(391-393)ACG>ACT	p.T131T		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	131	Substrate binding.				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity				0						TGTCCCCATTCGTTAATAGAA	0.473													4	106	---	---	---	---	PASS
REM1	28954	broad.mit.edu	37	20	30070204	30070204	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30070204C>A	uc002wwa.2	+	4	822	c.538C>A	c.(538-540)CGG>AGG	p.R180R		NM_014012	NP_054731	O75628	REM1_HUMAN	RAS-like GTP-binding protein REM	180					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			lung(2)|pancreas(2)	4	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CATCCAGCTGCGGCGCACACA	0.607													63	42	---	---	---	---	PASS
DNMT3B	1789	broad.mit.edu	37	20	31368124	31368124	+	5'UTR	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31368124G>T	uc002wyc.2	+	2					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_5'UTR|DNMT3B_uc002wye.2_5'UTR|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_5'UTR|DNMT3B_uc010zua.1_5'UTR|DNMT3B_uc002wyf.2_Nonsense_Mutation_p.E11*	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	DNA cytosine-5 methyltransferase 3 beta isoform						negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			lung(3)|ovary(2)	5						TCTCCCACAGGAAAGCATGAA	0.622													31	27	---	---	---	---	PASS
PLUNC	51297	broad.mit.edu	37	20	31828181	31828181	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31828181C>A	uc002wyv.2	+	5	641	c.571C>A	c.(571-573)CTG>ATG	p.L191M	PLUNC_uc002wyt.3_Missense_Mutation_p.L191M|PLUNC_uc002wyu.3_Missense_Mutation_p.L191M	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	191					innate immune response	extracellular region	lipid binding				0						GCAAATTTCTCTGCTTGATGG	0.517													115	128	---	---	---	---	PASS
MYH7B	57644	broad.mit.edu	37	20	33585348	33585348	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33585348C>A	uc002xbi.1	+	30	3870	c.3778C>A	c.(3778-3780)CAG>AAG	p.Q1260K		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	1218	Potential.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGACAGCCTGCAGCGGGTGCG	0.706													7	3	---	---	---	---	PASS
RBL1	5933	broad.mit.edu	37	20	35635932	35635932	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35635932C>G	uc002xgi.2	-	20	2832	c.2753G>C	c.(2752-2754)TGT>TCT	p.C918S	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.C918S	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	918	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				TCCACTGGAACAGTCAGGTGT	0.294													36	44	---	---	---	---	PASS
IFT52	51098	broad.mit.edu	37	20	42232819	42232819	+	Intron	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42232819A>G	uc002xkw.2	+						IFT52_uc010zwi.1_Intron|IFT52_uc002xky.2_Intron|IFT52_uc002xkx.2_Intron|IFT52_uc010ggn.2_Intron|IFT52_uc002xkz.2_Intron	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog							intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTTTTCCCTCATAGATGCTGT	0.259													47	45	---	---	---	---	PASS
IFT52	51098	broad.mit.edu	37	20	42242569	42242569	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42242569G>C	uc002xkw.2	+	7	687	c.565G>C	c.(565-567)GTC>CTC	p.V189L	IFT52_uc010zwi.1_RNA|IFT52_uc002xky.2_Missense_Mutation_p.V189L|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.V165L|IFT52_uc002xkz.2_Missense_Mutation_p.V189L	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog	189						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			ovary(2)	2		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TACAGGTTCTGTCTGCTTCCC	0.388													43	40	---	---	---	---	PASS
GDAP1L1	78997	broad.mit.edu	37	20	42885970	42885970	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42885970C>A	uc002xlq.2	+	2	425	c.358C>A	c.(358-360)CGC>AGC	p.R120S	GDAP1L1_uc002xlp.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwl.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwm.1_Missense_Mutation_p.R120S|GDAP1L1_uc010zwn.1_Intron	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	ganglioside-induced differentiation-associated	120	GST N-terminal.									large_intestine(1)	1		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTATGTGGAGCGCACCTTCAC	0.607													24	22	---	---	---	---	PASS
ZSWIM3	140831	broad.mit.edu	37	20	44506325	44506325	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44506325G>T	uc002xqd.2	+	2	1331	c.1128G>T	c.(1126-1128)CTG>CTT	p.L376L	ZSWIM3_uc010zxg.1_Silent_p.L370L	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM domain containing 3	376							zinc ion binding			ovary(2)	2		Myeloproliferative disorder(115;0.0122)				GTGAACTGCTGTGGTACATGC	0.532													41	29	---	---	---	---	PASS
MMP9	4318	broad.mit.edu	37	20	44645004	44645004	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44645004C>A	uc002xqz.2	+	13	2140	c.2121C>A	c.(2119-2121)GAC>GAA	p.D707E		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	707					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCCCTGAGGACTAGGGCTCCC	0.577													20	27	---	---	---	---	PASS
SLC12A5	57468	broad.mit.edu	37	20	44671797	44671797	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44671797C>A	uc010zxl.1	+	9	1217	c.1141C>A	c.(1141-1143)CTC>ATC	p.L381I	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.L358I	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	381	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGAGAACCTCTGGAGCTC	0.607													92	76	---	---	---	---	PASS
SLC12A5	57468	broad.mit.edu	37	20	44685005	44685005	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44685005T>A	uc010zxl.1	+	23	3057	c.2981T>A	c.(2980-2982)GTG>GAG	p.V994E	SLC12A5_uc002xrb.2_Missense_Mutation_p.V971E	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	994	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATCCCTCAGGTGCAGCTGATC	0.632													19	11	---	---	---	---	PASS
SULF2	55959	broad.mit.edu	37	20	46294641	46294641	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46294641A>G	uc002xto.2	-	13	2192	c.1862T>C	c.(1861-1863)CTG>CCG	p.L621P	SULF2_uc002xtr.2_Missense_Mutation_p.L621P|SULF2_uc002xtq.2_Missense_Mutation_p.L621P|SULF2_uc010zyd.1_5'Flank	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	621					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						CCAGGCCTGCAGGGACTTGTA	0.617													47	50	---	---	---	---	PASS
PREX1	57580	broad.mit.edu	37	20	47444245	47444245	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47444245G>A	uc002xtw.1	-	1	176	c.153C>T	c.(151-153)CTC>CTT	p.L51L		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	51	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGAGGACGCAGAGGCGGAGGC	0.413													14	6	---	---	---	---	PASS
SALL4	57167	broad.mit.edu	37	20	50401059	50401059	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50401059C>A	uc002xwh.3	-	4	3008	c.2907G>T	c.(2905-2907)TGG>TGT	p.W969C	SALL4_uc010gii.2_Missense_Mutation_p.W532C|SALL4_uc002xwi.3_Missense_Mutation_p.W192C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	969					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTACTGGTTCCACACAACAG	0.532													63	69	---	---	---	---	PASS
ZFP64	55734	broad.mit.edu	37	20	50769287	50769287	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50769287C>G	uc002xwl.2	-	6	1793	c.1444G>C	c.(1444-1446)GTG>CTG	p.V482L	ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.V480L|ZFP64_uc002xwn.2_Missense_Mutation_p.V428L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	zinc finger protein 64 isoform a	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						TGGAGGGGCACCTGGAGGTGT	0.607													17	37	---	---	---	---	PASS
TSHZ2	128553	broad.mit.edu	37	20	51872902	51872902	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:51872902C>G	uc002xwo.2	+	2	3861	c.2905C>G	c.(2905-2907)CAA>GAA	p.Q969E		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	969					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)			CAAGGTGGAGCAAGAGATCTC	0.502													26	38	---	---	---	---	PASS
RAE1	8480	broad.mit.edu	37	20	55943782	55943782	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55943782G>C	uc002xyg.2	+	8	897	c.556G>C	c.(556-558)GCA>CCA	p.A186P	RAE1_uc010gis.1_Missense_Mutation_p.A139P|RAE1_uc010git.1_Missense_Mutation_p.A186P|RAE1_uc002xyh.2_Missense_Mutation_p.A186P|RAE1_uc002xyi.2_Missense_Mutation_p.A186P	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	186	WD 3.				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGCTGTGGTGGCAACTGCAGA	0.433													24	98	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	20	56063719	56063719	+	Missense_Mutation	SNP	A	G	G	rs62618695	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56063719A>G	uc010zzl.1	-	1	365	c.365T>C	c.(364-366)ATT>ACT	p.I122T		NM_001008735	NP_001008735			high-mobility group box 1-like 1																		AACATCACCAATGGACAGGCC	0.488													47	172	---	---	---	---	PASS
TUBB1	81027	broad.mit.edu	37	20	57599252	57599252	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57599252T>C	uc002yak.2	+	4	1039	c.770T>C	c.(769-771)ATG>ACG	p.M257T		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	beta tubulin 1, class VI	257					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			ovary(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCGGTGAACATGGTCCCCTTC	0.642													27	78	---	---	---	---	PASS
SLMO2	51012	broad.mit.edu	37	20	57611616	57611616	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57611616T>A	uc002yam.2	-	5	491	c.375A>T	c.(373-375)ACA>ACT	p.T125T	SLMO2_uc010zzv.1_Silent_p.T95T	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2	125	PRELI/MSF1.									skin(1)	1	all_lung(29;0.00711)		Colorectal(105;0.109)			TGGCTTCTTGTGTCAAAACAG	0.383													42	172	---	---	---	---	PASS
ZNF831	128611	broad.mit.edu	37	20	57767530	57767530	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57767530C>A	uc002yan.2	+	1	1456	c.1456C>A	c.(1456-1458)CAC>AAC	p.H486N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	486						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCTCTTCTTCCACTCCGTCCC	0.687													18	62	---	---	---	---	PASS
ZNF831	128611	broad.mit.edu	37	20	57768676	57768676	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57768676G>T	uc002yan.2	+	1	2602	c.2602G>T	c.(2602-2604)GGC>TGC	p.G868C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	868						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					GGTGCCAGGGGGCTCAAAGGA	0.657													23	88	---	---	---	---	PASS
PHACTR3	116154	broad.mit.edu	37	20	58330353	58330353	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58330353G>A	uc002yau.2	+	4	942	c.475G>A	c.(475-477)GCC>ACC	p.A159T	PHACTR3_uc002yat.2_Missense_Mutation_p.A156T|PHACTR3_uc010zzw.1_Missense_Mutation_p.A118T|PHACTR3_uc002yav.2_Missense_Mutation_p.A118T|PHACTR3_uc002yaw.2_Missense_Mutation_p.A118T|PHACTR3_uc002yax.2_Missense_Mutation_p.A118T	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	159						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)			AAGCCCCTTGGCCACTGGGAC	0.612													18	57	---	---	---	---	PASS
CDH26	60437	broad.mit.edu	37	20	58545129	58545129	+	Intron	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58545129A>T	uc002ybe.2	+						CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTCACTATAAGTTCCAGGAA	0.517													66	170	---	---	---	---	PASS
CDH4	1002	broad.mit.edu	37	20	60318840	60318840	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60318840C>A	uc002ybn.1	+	3	405	c.391C>A	c.(391-393)CAC>AAC	p.H131N	CDH4_uc002ybo.1_RNA|CDH4_uc002ybp.1_Missense_Mutation_p.H57N	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	131					adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCACTCTGGACACAAGGTAAG	0.642													8	24	---	---	---	---	PASS
CDH4	1002	broad.mit.edu	37	20	60427941	60427941	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60427941G>A	uc002ybn.1	+	6	878	c.864G>A	c.(862-864)GAG>GAA	p.E288E	CDH4_uc002ybp.1_Silent_p.E214E	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	288	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)			CCGTGGACGAGGGCTCCAAGC	0.592													93	339	---	---	---	---	PASS
PRIC285	85441	broad.mit.edu	37	20	62192805	62192805	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62192805T>A	uc002yfm.2	-	14	7743	c.6851A>T	c.(6850-6852)CAC>CTC	p.H2284L	PRIC285_uc002yfl.1_Missense_Mutation_p.H1715L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	2284					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)			GATCCGGTGGTGCAGGGTGAT	0.637													103	177	---	---	---	---	PASS
PRIC285	85441	broad.mit.edu	37	20	62196727	62196727	+	Missense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62196727C>T	uc002yfm.2	-	9	4340	c.3448G>A	c.(3448-3450)GCC>ACC	p.A1150T	PRIC285_uc002yfl.1_Missense_Mutation_p.A581T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	1150					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)			CCCGAGGAGGCATCGTCCAGC	0.687													4	11	---	---	---	---	PASS
USP25	29761	broad.mit.edu	37	21	17191131	17191131	+	Missense_Mutation	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:17191131T>C	uc002yjy.1	+	10	1263	c.1046T>C	c.(1045-1047)TTA>TCA	p.L349S	USP25_uc011aby.1_Missense_Mutation_p.L349S|USP25_uc002yjz.1_Missense_Mutation_p.L349S|USP25_uc010gla.1_Intron	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	349					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)|liver(2)	5				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		ATTGAGTCTTTACATTCAGAG	0.403													47	238	---	---	---	---	PASS
ADAMTS5	11096	broad.mit.edu	37	21	28305220	28305220	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28305220G>T	uc002ymg.2	-	5	2562	c.1833C>A	c.(1831-1833)GCC>GCA	p.A611A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	611	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						AGCGGTAGATGGCCCTCTTCC	0.522													30	17	---	---	---	---	PASS
KRTAP13-1	140258	broad.mit.edu	37	21	31768661	31768661	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31768661C>A	uc002yoa.2	+	1	270	c.257C>A	c.(256-258)TCC>TAC	p.S86Y		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	86	5 X 10 AA approximate repeats.					intermediate filament				ovary(1)	1						CCCAGAACCTCCTTGCTCTGC	0.602													51	38	---	---	---	---	PASS
KRTAP6-1	337966	broad.mit.edu	37	21	31986182	31986182	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31986182G>T	uc002yop.2	-	1	42	c.42C>A	c.(40-42)GGC>GGA	p.G14G	KRTAP20-1_uc011ade.1_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	14						cytosol|intermediate filament					0						AGAACCCATAGCCAGGGGTGC	0.567													70	43	---	---	---	---	PASS
TIAM1	7074	broad.mit.edu	37	21	32639255	32639255	+	Missense_Mutation	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32639255C>G	uc002yow.1	-	5	506	c.34G>C	c.(34-36)GAG>CAG	p.E12Q	TIAM1_uc011adk.1_Missense_Mutation_p.E12Q|TIAM1_uc011adl.1_Missense_Mutation_p.E12Q|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	12					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CCATAAAACTCGTGCTCTACA	0.552													35	31	---	---	---	---	PASS
HUNK	30811	broad.mit.edu	37	21	33331214	33331214	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33331214G>T	uc002yph.2	+	5	1166	c.806G>T	c.(805-807)AGC>ATC	p.S269I		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	269	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						GAGCCTTTCAGCCTGAGGGCT	0.522													121	64	---	---	---	---	PASS
C21orf63	59271	broad.mit.edu	37	21	33840109	33840109	+	Missense_Mutation	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33840109A>T	uc002ypr.1	+	4	997	c.587A>T	c.(586-588)CAG>CTG	p.Q196L	C21orf63_uc002ypq.1_Missense_Mutation_p.Q196L|C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.Q196L|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.Q101L	NM_058187	NP_478067	P58658	CU063_HUMAN	hypothetical protein LOC59271 precursor	196	SUEL-type lectin 2.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(2)|pancreas(1)	3						AGGAGGACCCAGGAAAGGGAC	0.428													42	29	---	---	---	---	PASS
SLC5A3	6526	broad.mit.edu	37	21	35468733	35468733	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35468733G>T	uc002yto.2	+	2	1748	c.1236G>T	c.(1234-1236)AGG>AGT	p.R412S	MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	solute carrier family 5 (inositol transporters),	412	Helical; (Potential).					integral to plasma membrane	myo-inositol:sodium symporter activity			ovary(2)	2						TTGTGGGGAGGATATTTGTGG	0.473													62	57	---	---	---	---	PASS
DSCAM	1826	broad.mit.edu	37	21	41385199	41385199	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41385199C>A	uc002yyq.1	-	33	6253	c.5801G>T	c.(5800-5802)AGC>ATC	p.S1934I	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1934	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGGTCCGGCTTTTCTGAGG	0.607													47	35	---	---	---	---	PASS
DSCAM	1826	broad.mit.edu	37	21	41684139	41684139	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41684139G>A	uc002yyq.1	-	9	2383	c.1931C>T	c.(1930-1932)ACC>ATC	p.T644I	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	644	Extracellular (Potential).|Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTGTCAATGGTCACCCCAAG	0.557													48	50	---	---	---	---	PASS
DSCAM	1826	broad.mit.edu	37	21	41711138	41711138	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41711138G>T	uc002yyq.1	-	7	1867	c.1415C>A	c.(1414-1416)TCC>TAC	p.S472Y	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	472	Extracellular (Potential).|Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGGAGCTGGAGATGTTCAG	0.597													56	43	---	---	---	---	PASS
DSCAM	1826	broad.mit.edu	37	21	41741060	41741060	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41741060C>G	uc002yyq.1	-	4	1073	c.621G>C	c.(619-621)ACG>ACC	p.T207T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	207	Ig-like C2-type 2.|Extracellular (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGCTCTGCCTCGTCTCTCCGG	0.448													70	45	---	---	---	---	PASS
C21orf128	150147	broad.mit.edu	37	21	43528457	43528457	+	Silent	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43528457A>T	uc002zak.2	-	1	188	c.36T>A	c.(34-36)GCT>GCA	p.A12A	UMODL1_uc002zad.1_Intron|UMODL1_uc002zae.1_Intron|UMODL1_uc002zaf.1_Intron|UMODL1_uc002zag.1_Intron	NR_027243				RecName: Full=Uncharacterized protein C21orf128;												0						GGTTGGCACCAGCAGTGTTCT	0.612													11	7	---	---	---	---	PASS
DNMT3L	29947	broad.mit.edu	37	21	45679433	45679433	+	Splice_Site	SNP	C	A	A	rs35786892		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45679433C>A	uc002zeg.1	-	5	716	c.232_splice	c.e5-1	p.D78_splice	DNMT3L_uc002zeh.1_Splice_Site_p.D78_splice	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	cytosine-5-methyltransferase 3-like protein						DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			skin(2)	2				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GGAACTTGTCCTTGGAAGGAG	0.587													69	41	---	---	---	---	PASS
GAB4	128954	broad.mit.edu	37	22	17446085	17446085	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17446085C>A	uc002zlw.2	-	7	1470	c.1362G>T	c.(1360-1362)GAG>GAT	p.E454D		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member	454										large_intestine(1)|ovary(1)	2		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGACCAGGGCTCTGTGACAG	0.567													37	28	---	---	---	---	PASS
TXNRD2	10587	broad.mit.edu	37	22	19885649	19885649	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19885649C>A	uc011ahc.1	-	10	720	c.687G>T	c.(685-687)GTG>GTT	p.V229V	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Silent_p.V228V|TXNRD2_uc010grv.1_Silent_p.V229V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Silent_p.V197V	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	229					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					ACTCCAGGGCCACATCTGTGG	0.612													3	4	---	---	---	---	PASS
SGSM1	129049	broad.mit.edu	37	22	25308718	25308718	+	Missense_Mutation	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25308718A>C	uc003abg.2	+	23	3249	c.3092A>C	c.(3091-3093)CAG>CCG	p.Q1031P	SGSM1_uc003abh.2_Missense_Mutation_p.Q970P|SGSM1_uc010guu.1_Missense_Mutation_p.Q976P|SGSM1_uc003abj.2_Missense_Mutation_p.Q915P|SGSM1_uc003abi.1_Missense_Mutation_p.Q951P	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	1031	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5						TCGTTGATCCAGGTATGACCC	0.378													8	17	---	---	---	---	PASS
SEZ6L	23544	broad.mit.edu	37	22	26706681	26706681	+	Nonsense_Mutation	SNP	C	A	A	rs147602140	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26706681C>A	uc003acb.2	+	7	1716	c.1560C>A	c.(1558-1560)TAC>TAA	p.Y520*	SEZ6L_uc003acc.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc011akc.1_Nonsense_Mutation_p.Y520*|SEZ6L_uc003acd.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc011akd.1_Nonsense_Mutation_p.Y520*|SEZ6L_uc003ace.2_Nonsense_Mutation_p.Y520*|SEZ6L_uc003acf.1_Nonsense_Mutation_p.Y293*|SEZ6L_uc010gvc.1_Nonsense_Mutation_p.Y293*	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	520	CUB 2.|Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(4)|central_nervous_system(1)|pancreas(1)	6						CTCTTCTCTACGACTCCCTTC	0.597													87	72	---	---	---	---	PASS
NF2	4771	broad.mit.edu	37	22	30070892	30070892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30070892C>T	uc003age.3	+	13	1851	c.1408C>T	c.(1408-1410)CAG>TAG	p.Q470*	NF2_uc003afy.3_Nonsense_Mutation_p.Q470*|NF2_uc003afz.3_Nonsense_Mutation_p.Q387*|NF2_uc003agf.3_Nonsense_Mutation_p.Q470*|NF2_uc003agb.3_Nonsense_Mutation_p.Q393*|NF2_uc003agc.3_Nonsense_Mutation_p.Q432*|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Nonsense_Mutation_p.Q470*|NF2_uc003aga.3_Nonsense_Mutation_p.Q428*|NF2_uc003agh.3_Nonsense_Mutation_p.Q429*|NF2_uc003agi.3_Nonsense_Mutation_p.Q387*|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Nonsense_Mutation_p.Q432*|NF2_uc010gvp.2_Nonsense_Mutation_p.Q134*|NF2_uc011akq.1_Nonsense_Mutation_p.Q96*	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	470					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(2)|p.Q470L(1)|p.Q459fs*25(1)|p.Q470*(1)|p.Q470fs*15(1)|p.A464fs*24(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728						AAGAGCCAAGCAGAAGCTCCT	0.607			D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				4	5	---	---	---	---	PASS
OSM	5008	broad.mit.edu	37	22	30659938	30659938	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30659938C>A	uc003ahb.2	-	3	745	c.693G>T	c.(691-693)GGG>GGT	p.G231G		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	231					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			TCCTGCGCACCCCCTTCCTCA	0.662													95	63	---	---	---	---	PASS
PATZ1	23598	broad.mit.edu	37	22	31724897	31724897	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31724897G>C	uc003akq.2	-	4	2182	c.1521C>G	c.(1519-1521)GCC>GCG	p.A507A	PATZ1_uc003akp.2_Intron|PATZ1_uc003akr.2_Intron	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	507	C2H2-type 6.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	soft_tissue(2)	2						TTAAGTAGGAGGCAGAGGAGA	0.567													12	31	---	---	---	---	PASS
C22orf42	150297	broad.mit.edu	37	22	32555175	32555175	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32555175C>A	uc003amd.2	-	1	69	c.28G>T	c.(28-30)GGC>TGC	p.G10C		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	10										ovary(1)|skin(1)	2						CCGCTGGGGCCCAGGCAGCAA	0.572													38	46	---	---	---	---	PASS
PICK1	9463	broad.mit.edu	37	22	38466839	38466839	+	Intron	SNP	C	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38466839C>T	uc003auq.2	+						PICK1_uc003aur.2_Intron|PICK1_uc003aus.2_Intron|PICK1_uc003aut.2_Intron	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					CTTTGAATCCCGACAGATGGG	0.627													8	23	---	---	---	---	PASS
CYP2D6	1565	broad.mit.edu	37	22	42526796	42526796	+	Translation_Start_Site	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42526796C>A	uc003bce.2	-	1	88	c.-2G>T	c.(-4-0)CAGGT>CATGT		uc003bcd.1_Intron|CYP2D6_uc010gyu.2_5'Flank|CYP2D6_uc003bcf.2_Translation_Start_Site	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D,								electron carrier activity|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			breast(1)|skin(1)	2						AGCCCCATACCTGCCTCACTA	0.642													2	5	---	---	---	---	PASS
PARVB	29780	broad.mit.edu	37	22	44564566	44564566	+	3'UTR	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:44564566G>T	uc003ben.2	+	13					PARVB_uc003bem.2_3'UTR|PARVB_uc010gzn.2_3'UTR|PARVB_uc003beo.2_3'UTR	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGACGGGGGAGCTGTGGATGG	0.567													22	25	---	---	---	---	PASS
ATXN10	25814	broad.mit.edu	37	22	46085626	46085626	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46085626C>A	uc003bgm.1	+	2	408	c.151C>A	c.(151-153)CTG>ATG	p.L51M	ATXN10_uc011aqt.1_Intron|ATXN10_uc003bgn.1_Translation_Start_Site	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	ataxin 10	51					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				ovary(1)|kidney(1)	2		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CCAAAGAGTTCTGGATATCCT	0.388													63	45	---	---	---	---	PASS
GTSE1	51512	broad.mit.edu	37	22	46704301	46704301	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46704301G>A	uc011aqy.1	+	4	435	c.223G>A	c.(223-225)GTT>ATT	p.V75I	GTSE1_uc011aqz.1_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	56					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAATAATCCGGTTCCCGAACA	0.463													134	109	---	---	---	---	PASS
TBC1D22A	25771	broad.mit.edu	37	22	47507500	47507500	+	Splice_Site	SNP	G	T	T	rs147421684		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47507500G>T	uc003bib.2	+	12	1560	c.1425_splice	c.e12+1	p.Q475_splice	TBC1D22A_uc010haf.2_Splice_Site_p.Q445_splice|TBC1D22A_uc003bic.2_Splice_Site_p.Q416_splice|TBC1D22A_uc003bie.2_Splice_Site_p.Q397_splice|TBC1D22A_uc003bid.2_Splice_Site|TBC1D22A_uc010hag.2_Splice_Site|TBC1D22A_uc003bif.2_Splice_Site_p.Q428_splice	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A							intracellular	protein homodimerization activity|Rab GTPase activator activity			ovary(1)	1		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGATTTTCAAGTAAGTAAATG	0.373													26	27	---	---	---	---	PASS
BRD1	23774	broad.mit.edu	37	22	50216964	50216964	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50216964G>C	uc003biv.2	-	1	1489	c.1002C>G	c.(1000-1002)GGC>GGG	p.G334G	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Silent_p.G334G|BRD1_uc011arh.1_Silent_p.G334G|BRD1_uc003biu.3_Silent_p.G334G	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	334					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCACCCACGCCCTTCTGCT	0.562													86	76	---	---	---	---	PASS
TTLL8	164714	broad.mit.edu	37	22	50470358	50470358	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50470358G>T	uc011ark.1	-	11	1464	c.1464C>A	c.(1462-1464)GCC>GCA	p.A488A		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)		TCATGGCGTGGGCGATGGCCT	0.642													22	20	---	---	---	---	PASS
MOV10L1	54456	broad.mit.edu	37	22	50547090	50547090	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50547090G>C	uc003bjj.2	+	5	643	c.560G>C	c.(559-561)TGC>TCC	p.C187S	MOV10L1_uc003bjk.3_Missense_Mutation_p.C187S|MOV10L1_uc011arp.1_Missense_Mutation_p.C167S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	187					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)|skin(1)	3		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCCCAGGTCTGCATCTCTAGC	0.557													63	54	---	---	---	---	PASS
CSF2RA	1438	broad.mit.edu	37	X	1404669	1404669	+	Splice_Site	SNP	A	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1404669A>T	uc010nct.2	+	5	399	c.77_splice	c.e5-2	p.D26_splice	CSF2RA_uc011mhb.1_Splice_Site_p.D26_splice|CSF2RA_uc004cpq.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpn.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpo.2_Splice_Site_p.D26_splice|CSF2RA_uc010ncu.2_Splice_Site|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Splice_Site_p.D26_splice|CSF2RA_uc010ncv.2_Splice_Site_p.D26_splice|CSF2RA_uc004cpr.2_Splice_Site_p.D26_splice	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain							extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGCTCCTTGCAGATCTGCGAA	0.323													17	43	---	---	---	---	PASS
MXRA5	25878	broad.mit.edu	37	X	3236019	3236019	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3236019C>A	uc004crg.3	-	6	5860	c.5703G>T	c.(5701-5703)AGG>AGT	p.R1901S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1901	Ig-like C2-type 3.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCGTTGTATCCTGGTATTCG	0.453													17	14	---	---	---	---	PASS
MXRA5	25878	broad.mit.edu	37	X	3240743	3240743	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3240743C>A	uc004crg.3	-	5	3140	c.2983G>T	c.(2983-2985)GAA>TAA	p.E995*		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	995						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGGTGTCTTCTTTCATCTTA	0.468													38	37	---	---	---	---	PASS
NLGN4X	57502	broad.mit.edu	37	X	5810954	5810954	+	Silent	SNP	T	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5810954T>G	uc010ndh.2	-	6	2856	c.2355A>C	c.(2353-2355)ACA>ACC	p.T785T	NLGN4X_uc004crp.2_Silent_p.T805T|NLGN4X_uc004crq.2_Silent_p.T785T|NLGN4X_uc010ndi.2_Silent_p.T822T|NLGN4X_uc004crr.2_Silent_p.T785T|NLGN4X_uc010ndj.2_Silent_p.T785T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	785	Cytoplasmic (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						TCCCCGTCAGTGTGTTTGGAA	0.517													23	19	---	---	---	---	PASS
FANCB	2187	broad.mit.edu	37	X	14861980	14861980	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14861980C>A	uc004cwg.1	-	10	2557	c.2289G>T	c.(2287-2289)TTG>TTT	p.L763F	FANCB_uc004cwh.1_Missense_Mutation_p.L763F	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	763					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					GTTCCTTCTCCAAAGTAAATG	0.363								Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				40	36	---	---	---	---	PASS
PDK3	5165	broad.mit.edu	37	X	24544341	24544341	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24544341G>C	uc004dbg.2	+	7	929	c.700G>C	c.(700-702)GTG>CTG	p.V234L	PDK3_uc004dbh.2_Missense_Mutation_p.V234L	NM_005391	NP_005382	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase 3 isoform 2	234	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						ACCTATTCAGGTGGTTTATGT	0.358													13	23	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	X	26179942	26179942	+	IGR	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26179942G>A								MAGEB18 (21090 upstream) : MAGEB6 (30615 downstream)																							GAGAGCTTAAGGCAGGGCTGG	0.488													42	39	---	---	---	---	PASS
MAGEB6	158809	broad.mit.edu	37	X	26212737	26212737	+	Missense_Mutation	SNP	C	A	A	rs143373947	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26212737C>A	uc004dbr.2	+	2	923	c.774C>A	c.(772-774)AGC>AGA	p.S258R	MAGEB6_uc010ngc.1_Missense_Mutation_p.S38R	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	258	MAGE.									ovary(3)	3						TGGATTCCAGCGGCGAGTCCT	0.537													23	19	---	---	---	---	PASS
DMD	1756	broad.mit.edu	37	X	31947805	31947805	+	Nonsense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31947805C>A	uc004dda.1	-	47	7064	c.6820G>T	c.(6820-6822)GGA>TGA	p.G2274*	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Nonsense_Mutation_p.G930*|DMD_uc004dcx.2_Nonsense_Mutation_p.G933*|DMD_uc004dcz.2_Nonsense_Mutation_p.G2151*|DMD_uc004dcy.1_Nonsense_Mutation_p.G2270*|DMD_uc004ddb.1_Nonsense_Mutation_p.G2266*|DMD_uc010ngn.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	2274	Spectrin 16.				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)				ACGGGTCCTCCAGTTTCATTT	0.418													28	38	---	---	---	---	PASS
CXorf22	170063	broad.mit.edu	37	X	35970090	35970090	+	Intron	SNP	A	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35970090A>C	uc004ddj.2	+						CXorf22_uc010ngv.2_Intron	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063											large_intestine(1)|lung(1)|ovary(1)	3						AGTAAGCAAAAATTAATTTCA	0.284													29	25	---	---	---	---	PASS
DDX3X	1654	broad.mit.edu	37	X	41204663	41204663	+	Missense_Mutation	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41204663G>A	uc004dfe.2	+	12	2032	c.1177G>A	c.(1177-1179)GCT>ACT	p.A393T	DDX3X_uc004dff.2_Missense_Mutation_p.A393T|DDX3X_uc011mkq.1_Missense_Mutation_p.A377T|DDX3X_uc011mkr.1_Missense_Mutation_p.A393T|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	NM_001356	NP_001347	O00571	DDX3X_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3	393	Necessary for interaction with XPO1.|Helicase ATP-binding.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						TCAGATGCTGGCTCGTGATTT	0.328										HNSCC(61;0.18)			26	21	---	---	---	---	PASS
SLC38A5	92745	broad.mit.edu	37	X	48317372	48317372	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48317372C>A	uc010nid.2	-	17	1544	c.1366G>T	c.(1366-1368)GGC>TGC	p.G456C	SLC38A5_uc004djk.3_Missense_Mutation_p.G405C	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	456	Helical; (Potential).			G -> S (in Ref. 1; AAK61856).	cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						AACATAAAGCCTAGACTGACG	0.612													8	8	---	---	---	---	PASS
ERAS	3266	broad.mit.edu	37	X	48687893	48687893	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48687893C>A	uc004dky.1	+	1	611	c.360C>A	c.(358-360)TTC>TTA	p.F120L		NM_181532	NP_853510	Q7Z444	RASE_HUMAN	ES cell expressed Ras precursor	120					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			lung(4)|urinary_tract(1)	5						TGGGCGTCTTCGCTCTCGATG	0.632													83	30	---	---	---	---	PASS
AKAP4	8852	broad.mit.edu	37	X	49958854	49958854	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49958854G>A	uc004dow.1	-	5	634	c.510C>T	c.(508-510)AAC>AAT	p.N170N	AKAP4_uc004dov.1_Silent_p.N161N|AKAP4_uc010njp.1_5'UTR|AKAP4_uc004dou.1_Silent_p.N161N	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	170					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					TTTGAGGTCTGTTCATCAAAT	0.433													58	51	---	---	---	---	PASS
MSN	4478	broad.mit.edu	37	X	64951020	64951020	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64951020G>T	uc004dwf.2	+	5	717	c.519G>T	c.(517-519)CAG>CAT	p.Q173H		NM_002444	NP_002435	P26038	MOES_HUMAN	moesin	173	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						AGCGGATCCAGGTGTGGCATG	0.537			T	ALK	ALCL								7	6	---	---	---	---	PASS
FAM155B	27112	broad.mit.edu	37	X	68749658	68749658	+	Silent	SNP	C	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:68749658C>G	uc004dxk.2	+	3	1326	c.1278C>G	c.(1276-1278)CTC>CTG	p.L426L		NM_015686	NP_056501	O75949	F155B_HUMAN	transmembrane protein 28	427						integral to membrane				ovary(1)|breast(1)	2						GCTCCCGCCTCAGCCCTAGCA	0.532													29	9	---	---	---	---	PASS
RGAG4	340526	broad.mit.edu	37	X	71350437	71350437	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71350437C>A	uc010nlh.1	-	1	1315	c.954G>T	c.(952-954)CCG>CCT	p.P318P	NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	318										ovary(2)|skin(1)	3	Renal(35;0.156)					CTCCAGGGAGCGGGATAGGCT	0.473													82	47	---	---	---	---	PASS
TSIX	9383	broad.mit.edu	37	X	73045196	73045196	+	RNA	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73045196T>C	uc004ebn.2	+	1		c.33157T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0						AGCACTTTTTTATGCTTGCTC	0.264													38	17	---	---	---	---	PASS
TSIX	9383	broad.mit.edu	37	X	73046296	73046296	+	RNA	SNP	T	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73046296T>C	uc004ebn.2	+	1		c.34257T>C			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0						GCCTAACAAATAGGTAAAAGC	0.378													13	11	---	---	---	---	PASS
TSIX	9383	broad.mit.edu	37	X	73047135	73047135	+	RNA	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73047135C>A	uc004ebn.2	+	1		c.35096C>A			XIST_uc004ebm.1_RNA	NR_003255				Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA.												0						CACACACACACGTACACTTGC	0.463													93	27	---	---	---	---	PASS
ATP7A	538	broad.mit.edu	37	X	77284912	77284912	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77284912G>T	uc004ecx.3	+	15	3242	c.3082G>T	c.(3082-3084)GGT>TGT	p.G1028C		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1028	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						ACTAATAAAAGGTGGAGAGCC	0.473													66	30	---	---	---	---	PASS
ZCCHC5	203430	broad.mit.edu	37	X	77913754	77913754	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77913754G>T	uc004edc.1	-	2	460	c.164C>A	c.(163-165)TCC>TAC	p.S55Y		NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	55							nucleic acid binding|zinc ion binding			ovary(1)	1						GGCCTCTGAGGACTTTCGGAG	0.567													21	13	---	---	---	---	PASS
NAP1L3	4675	broad.mit.edu	37	X	92927476	92927476	+	Silent	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92927476T>A	uc004efq.2	-	1	1133	c.828A>T	c.(826-828)GCA>GCT	p.A276A	FAM133A_uc004efr.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	276					nucleosome assembly	chromatin assembly complex				ovary(1)|skin(1)	2						TCTCTCTTACTGCAGCCCTTG	0.448													94	45	---	---	---	---	PASS
BTK	695	broad.mit.edu	37	X	100611135	100611135	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100611135G>C	uc004ehg.2	-	15	1664	c.1471C>G	c.(1471-1473)CAC>GAC	p.H491D	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.H61D|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Missense_Mutation_p.H525D|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Missense_Mutation_p.H491D	NM_000061	NP_000052	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	491	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.H491Y(1)		lung(3)|central_nervous_system(2)|ovary(1)	6						TGGAAGCGGTGGCGCATCTCC	0.557									Agammaglobulinemia_X-linked				56	29	---	---	---	---	PASS
ARMCX3	51566	broad.mit.edu	37	X	100881116	100881116	+	3'UTR	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100881116G>C	uc004ehz.1	+	5					ARMCX3_uc004eia.1_3'UTR|ARMCX3_uc004eib.1_3'UTR|ARMCX3_uc004eic.1_3'UTR	NM_016607	NP_057691	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3							integral to membrane	binding			ovary(1)|lung(1)	2						ataacaccttgattttgtaat	0.164													81	32	---	---	---	---	PASS
ARMCX5	64860	broad.mit.edu	37	X	101857624	101857624	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101857624G>T	uc004ejg.2	+	6	1436	c.555G>T	c.(553-555)TGG>TGT	p.W185C	ARMCX5_uc004ejh.2_Missense_Mutation_p.W185C	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	185							binding			ovary(1)	1						TAGGGTCCTGGTTCTGGCCTG	0.468													85	50	---	---	---	---	PASS
GPRASP1	9737	broad.mit.edu	37	X	101909360	101909360	+	Silent	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101909360G>C	uc004ejj.3	+	5	1320	c.519G>C	c.(517-519)GGG>GGC	p.G173G	GPRASP1_uc004eji.3_Silent_p.G173G|GPRASP1_uc010nod.2_Silent_p.G173G	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	173						cytoplasm	protein binding			ovary(1)|lung(1)	2						CCAATATGGGGTCCTGGTGCT	0.463													104	39	---	---	---	---	PASS
H2BFWT	158983	broad.mit.edu	37	X	103268110	103268110	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:103268110C>A	uc004elr.2	-	1	147	c.123G>T	c.(121-123)CAG>CAT	p.Q41H		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	41					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						GGGTGATCAGCTGTTCCTCAG	0.627													38	54	---	---	---	---	PASS
CAPN6	827	broad.mit.edu	37	X	110491797	110491797	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110491797C>A	uc004epc.1	-	10	1652	c.1484G>T	c.(1483-1485)AGG>ATG	p.R495M	CAPN6_uc011msu.1_Missense_Mutation_p.R240M	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	calpain 6	495	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						GAAACTGAACCTGAGCTGGAC	0.507													30	9	---	---	---	---	PASS
ZCCHC16	340595	broad.mit.edu	37	X	111698734	111698734	+	Missense_Mutation	SNP	C	G	G	rs139116920	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111698734C>G	uc004epo.1	+	3	1219	c.778C>G	c.(778-780)CGA>GGA	p.R260G		NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	260							nucleic acid binding|zinc ion binding			ovary(1)	1						TATACAGCTGCGAGAAGGCCA	0.552													73	55	---	---	---	---	PASS
KIAA1210	57481	broad.mit.edu	37	X	118223502	118223502	+	Missense_Mutation	SNP	T	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118223502T>A	uc004era.3	-	11	1691	c.1691A>T	c.(1690-1692)TAT>TTT	p.Y564F		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	564										ovary(4)|skin(1)	5						GCCCAGGCCATACCCTTCACT	0.478													104	54	---	---	---	---	PASS
ODZ1	10178	broad.mit.edu	37	X	123518504	123518504	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123518504C>A	uc004euj.2	-	29	6320	c.6256G>T	c.(6256-6258)GAT>TAT	p.D2086Y	ODZ1_uc011muj.1_Missense_Mutation_p.D2092Y|ODZ1_uc010nqy.2_Missense_Mutation_p.D2093Y	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2086	YD 15.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TGATTTAAATCGTAATTAATT	0.363													77	39	---	---	---	---	PASS
ODZ1	10178	broad.mit.edu	37	X	123870989	123870989	+	Silent	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123870989C>A	uc004euj.2	-	4	658	c.594G>T	c.(592-594)CCG>CCT	p.P198P	ODZ1_uc011muj.1_Silent_p.P198P|ODZ1_uc010nqy.2_Silent_p.P198P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	198	Teneurin N-terminal.|Cytoplasmic (Potential).|Poly-Pro.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						CATGAGGAGGCGGAGGTGGCG	0.572													44	18	---	---	---	---	PASS
DCAF12L1	139170	broad.mit.edu	37	X	125685195	125685195	+	3'UTR	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125685195C>A	uc004eul.2	-	1						NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1											skin(3)|ovary(1)	4						ACAAGGCGGTCATCCTTAGCT	0.522													30	54	---	---	---	---	PASS
DCAF12L1	139170	broad.mit.edu	37	X	125686130	125686130	+	Silent	SNP	G	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125686130G>A	uc004eul.2	-	1	713	c.462C>T	c.(460-462)GCC>GCT	p.A154A		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	154	WD 1.									skin(3)|ovary(1)	4						TCAGCTCGATGGCATGGATGC	0.657													28	12	---	---	---	---	PASS
DCAF12L1	139170	broad.mit.edu	37	X	125686131	125686131	+	Missense_Mutation	SNP	G	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125686131G>C	uc004eul.2	-	1	712	c.461C>G	c.(460-462)GCC>GGC	p.A154G		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	154	WD 1.									skin(3)|ovary(1)	4						CAGCTCGATGGCATGGATGCC	0.652													30	11	---	---	---	---	PASS
SMARCA1	6594	broad.mit.edu	37	X	128630823	128630823	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128630823C>A	uc004eun.3	-	12	1643	c.1530G>T	c.(1528-1530)CAG>CAT	p.Q510H	SMARCA1_uc004eup.3_Missense_Mutation_p.Q510H|SMARCA1_uc011muk.1_Missense_Mutation_p.Q510H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q510H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	510	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4						AGCGAGTCATCTGGCTGAAAA	0.388													93	43	---	---	---	---	PASS
ZNF280C	55609	broad.mit.edu	37	X	129394414	129394414	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129394414C>A	uc004evm.2	-	2	164	c.10G>T	c.(10-12)GAC>TAC	p.D4Y	ZNF280C_uc010nrf.1_Missense_Mutation_p.D4Y	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)	3						AAAGGTTTGTCGTCATCCATG	0.343													3	110	---	---	---	---	PASS
GPR112	139378	broad.mit.edu	37	X	135431464	135431464	+	Nonsense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135431464G>T	uc004ezu.1	+	6	5890	c.5599G>T	c.(5599-5601)GGA>TGA	p.G1867*	GPR112_uc010nsb.1_Nonsense_Mutation_p.G1662*|GPR112_uc010nsc.1_Nonsense_Mutation_p.G1634*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	1867	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TCCAGTTCTGGGAACAAGAAT	0.423													82	36	---	---	---	---	PASS
MCF2	4168	broad.mit.edu	37	X	138699874	138699874	+	Intron	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138699874C>A	uc004fau.2	-						MCF2_uc004fav.2_Intron|MCF2_uc011mwl.1_Intron|MCF2_uc010nsh.1_Intron|MCF2_uc011mwm.1_Intron|MCF2_uc011mwn.1_Intron|MCF2_uc004faw.2_Intron|MCF2_uc011mwo.1_Intron	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)					CTGATTATAACAAAGACAAAA	0.338													81	42	---	---	---	---	PASS
CDR1	1038	broad.mit.edu	37	X	139866314	139866314	+	Missense_Mutation	SNP	A	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:139866314A>G	uc004fbg.1	-	1	410	c.218T>C	c.(217-219)ATG>ACG	p.M73T	uc004fbf.1_RNA	NM_004065	NP_004056	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1,	73	23 X 6 AA approximate repeats.|12.										0	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCTCAAATCCATAGCTTCCGA	0.453													52	33	---	---	---	---	PASS
MAGEC2	51438	broad.mit.edu	37	X	141291506	141291506	+	Missense_Mutation	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:141291506C>A	uc004fbu.1	-	3	616	c.268G>T	c.(268-270)GGT>TGT	p.G90C		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	90	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)					tgtggaggaccctgtggagga	0.418										HNSCC(46;0.14)			33	19	---	---	---	---	PASS
MIR513A1	574509	broad.mit.edu	37	X	146295104	146295104	+	RNA	SNP	C	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:146295104C>A	hsa-mir-513a-1|MI0003191	-			c.6C>A																				0						ctgaatgtggcatcccAGACC	0.209													5	6	---	---	---	---	PASS
MAGEA4	4103	broad.mit.edu	37	X	151092212	151092212	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151092212G>T	uc004fez.2	+	3	232	c.76G>T	c.(76-78)GTG>TTG	p.V26L	MAGEA4_uc004ffa.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffb.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffc.2_Missense_Mutation_p.V26L|MAGEA4_uc004ffd.2_Missense_Mutation_p.V26L	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	26							protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGGCCTGGTGGGTGCACA	0.617													42	13	---	---	---	---	PASS
PNCK	139728	broad.mit.edu	37	X	152937126	152937126	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152937126G>T	uc011myu.1	-	6	851	c.665C>A	c.(664-666)CCC>CAC	p.P222H	PNCK_uc011myt.1_Missense_Mutation_p.P156H|PNCK_uc004fia.2_Missense_Mutation_p.P151H|PNCK_uc004fhz.3_Missense_Mutation_p.P37H|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_Missense_Mutation_p.P166H|PNCK_uc011myw.1_Missense_Mutation_p.P166H	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	pregnancy upregulated non-ubiquitously expressed	139	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTTTTCGGGCTGTGACAC	0.597													70	38	---	---	---	---	PASS
L1CAM	3897	broad.mit.edu	37	X	153130878	153130878	+	Silent	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153130878G>T	uc004fjb.2	-	20	2733	c.2625C>A	c.(2623-2625)GCC>GCA	p.A875A	L1CAM_uc004fjc.2_Silent_p.A875A|L1CAM_uc010nuo.2_Silent_p.A870A	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	875	Extracellular (Potential).|Fibronectin type-III 3.				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)					TGGTGGTGTTGGCGGGCACCA	0.602													81	30	---	---	---	---	PASS
L1CAM	3897	broad.mit.edu	37	X	153130879	153130879	+	Missense_Mutation	SNP	G	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153130879G>T	uc004fjb.2	-	20	2732	c.2624C>A	c.(2623-2625)GCC>GAC	p.A875D	L1CAM_uc004fjc.2_Missense_Mutation_p.A875D|L1CAM_uc010nuo.2_Missense_Mutation_p.A870D	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	875	Extracellular (Potential).|Fibronectin type-III 3.				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)					GGTGGTGTTGGCGGGCACCAC	0.607													79	30	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	1	25371441	25371442	+	IGR	DEL	AG	-	-	rs61298913		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25371441_25371442delAG								RUNX3 (79829 upstream) : SYF2 (177325 downstream)																							gaaggaaggaagaaggaaggaa	0.050													4	2	---	---	---	---	
KHDRBS1	10657	broad.mit.edu	37	1	32480004	32480004	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32480004delG	uc001bub.2	+						KHDRBS1_uc001bua.1_Intron|KHDRBS1_uc001buc.1_Intron	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal						cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGTCCCTCTGGGTCGCCCGG	0.672													3	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	1	37568487	37568496	+	IGR	DEL	GGAAGAGGAG	-	-	rs12747649		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37568487_37568496delGGAAGAGGAG								GRIK3 (68643 upstream) : ZC3H12A (371623 downstream)																							aggaggaagaggaagaggagggaggaggag	0.000													4	2	---	---	---	---	
TRIT1	54802	broad.mit.edu	37	1	40312703	40312703	+	Intron	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40312703delT	uc010oiz.1	-						TRIT1_uc001cec.3_Intron|TRIT1_uc001ced.3_Intron|TRIT1_uc001cee.3_Intron|TRIT1_uc001cef.3_Intron|TRIT1_uc001ceg.3_Intron|TRIT1_uc001ceh.3_Intron|TRIT1_uc009vvv.2_Intron|TRIT1_uc001cei.3_Intron|TRIT1_uc001ceq.2_Intron|TRIT1_uc001cek.2_Intron|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Intron|TRIT1_uc001cen.2_Intron|TRIT1_uc001ceo.2_Intron|TRIT1_uc001cep.2_Intron	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor						tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATGCAAATAATTTTTTTTTTT	0.388													4	2	---	---	---	---	
CDCP2	200008	broad.mit.edu	37	1	54605533	54605533	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54605533delC	uc001cwv.1	-	4	1858	c.1010delG	c.(1009-1011)GGAfs	p.G337fs		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2 precursor	337	CUB 3.					extracellular region				ovary(1)	1						CAGGTGGTGTCCACACCAATT	0.632													35	16	---	---	---	---	
SGIP1	84251	broad.mit.edu	37	1	67133301	67133301	+	Intron	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67133301delC	uc001dcr.2	+						SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|uc010ope.1_Intron	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting						positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						AGGTTGGTTTCCCATTAAATT	0.413													30	13	---	---	---	---	
MCOLN2	255231	broad.mit.edu	37	1	85412990	85412991	+	Intron	DEL	CA	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85412990_85412991delCA	uc001dkm.2	-						MCOLN2_uc001dkn.2_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2							integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		caccccccaccacacacacaca	0.069													4	2	---	---	---	---	
SNX7	51375	broad.mit.edu	37	1	99214194	99214195	+	Intron	DEL	AC	-	-	rs148262799		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:99214194_99214195delAC	uc010ouc.1	+						SNX7_uc001dsa.2_Intron|SNX7_uc010oud.1_Intron	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	sorting nexin 7 isoform a						cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AATGATTTAAacacacacacac	0.252													4	3	---	---	---	---	
ATXN7L2	127002	broad.mit.edu	37	1	110026622	110026622	+	Frame_Shift_Del	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110026622delG	uc001dxr.2	+	1	62	c.47delG	c.(46-48)CGGfs	p.R16fs		NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	16										ovary(2)	2		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		gctctggagcggcggGTGCCG	0.313													11	6	---	---	---	---	
Unknown	0	broad.mit.edu	37	1	111391696	111391697	+	IGR	DEL	TT	-	-	rs34558917		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111391696_111391697delTT								KCNA3 (174041 upstream) : CD53 (22124 downstream)																							GCGGTAGGCCtttttttttttt	0.327													4	2	---	---	---	---	
FCRL5	83416	broad.mit.edu	37	1	157485307	157485307	+	3'UTR	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157485307delC	uc001fqu.2	-	17					FCRL5_uc009wsm.2_3'UTR	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5							integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCCAGCAGGGCCCTGCATTCT	0.527													17	16	---	---	---	---	
KCNT2	343450	broad.mit.edu	37	1	196577354	196577354	+	Frame_Shift_Del	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196577354delT	uc001gtd.1	-	1	146	c.86delA	c.(85-87)AACfs	p.N29fs	KCNT2_uc001gte.1_Frame_Shift_Del_p.N29fs|KCNT2_uc001gtf.1_Frame_Shift_Del_p.N29fs|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Frame_Shift_Del_p.N29fs|KCNT2_uc009wyv.1_Frame_Shift_Del_p.N29fs	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	29	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						CCTGTCGTCGTTTTGCCATCC	0.517													158	73	---	---	---	---	
COG2	22796	broad.mit.edu	37	1	230819156	230819157	+	Intron	DEL	AA	-	-	rs35756888		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230819156_230819157delAA	uc001htw.2	+						COG2_uc001htx.2_Intron|COG2_uc010pwc.1_Intron	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform						Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ttgttcagttaaaaaaaaaaaa	0.139													5	4	---	---	---	---	
ATL2	64225	broad.mit.edu	37	2	38537548	38537548	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38537548delC	uc002rqq.2	-	8	876	c.846delG	c.(844-846)AAGfs	p.K282fs	ATL2_uc010ynm.1_Frame_Shift_Del_p.K264fs|ATL2_uc010ynn.1_Frame_Shift_Del_p.K264fs|ATL2_uc010yno.1_Frame_Shift_Del_p.K111fs|ATL2_uc002rqs.2_Frame_Shift_Del_p.K282fs|ATL2_uc002rqr.2_Frame_Shift_Del_p.K111fs	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2 isoform 2	282	Potential.|Cytoplasmic.				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			ovary(1)|kidney(1)|skin(1)	3						TGTGTATGTGCTTCCTTACAT	0.368													71	42	---	---	---	---	
BOLA3	388962	broad.mit.edu	37	2	74372362	74372362	+	Frame_Shift_Del	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74372362delT	uc002skc.1	-	2	161	c.123delA	c.(121-123)AAAfs	p.K41fs	BOLA3_uc002skd.1_Frame_Shift_Del_p.K41fs|uc002ske.2_5'Flank|uc002skf.2_5'Flank|uc002skg.2_5'Flank	NM_212552	NP_997717	Q53S33	BOLA3_HUMAN	bolA-like 3 isoform 1	41						extracellular region					0						GAAACTTTTCTTTGAGAATTT	0.483													92	69	---	---	---	---	
Unknown	0	broad.mit.edu	37	2	129393475	129393478	+	IGR	DEL	CTTT	-	-	rs12621385		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:129393475_129393478delCTTT								HS6ST1 (317304 upstream) : None (None downstream)																							tccttccttcctttcttccttcct	0.069													4	2	---	---	---	---	
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131129929_131129934delGACGGG	uc002trc.2	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)CAGACGGGG>CAG	p.TG378del	PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	378_379				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.568													8	4	---	---	---	---	
PPP1R1C	151242	broad.mit.edu	37	2	182852657	182852657	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:182852657delG	uc002uoo.2	+						PPP1R1C_uc002uon.2_Intron|PPP1R1C_uc002uop.1_Intron|PPP1R1C_uc010frm.1_Intron|PPP1R1C_uc010frn.1_Intron	NM_001080545	NP_001074014	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor)						signal transduction	cytoplasm	protein phosphatase inhibitor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			TCACACTGATGGAACAGAATG	0.378													126	87	---	---	---	---	
AOX1	316	broad.mit.edu	37	2	201474190	201474191	+	Intron	DEL	TC	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201474190_201474191delTC	uc002uvx.2	+						AOX1_uc010zhf.1_Intron|AOX1_uc010fsu.2_Intron	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1						inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TACCCCTTTTTCTCTCTGGGGA	0.416													55	27	---	---	---	---	
CPO	130749	broad.mit.edu	37	2	207824546	207824546	+	Intron	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207824546delC	uc002vby.2	+							NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor						proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTTATCCATTCCGGCTCTAAA	0.343													11	8	---	---	---	---	
KIAA1486	57624	broad.mit.edu	37	2	226377346	226377347	+	Intron	INS	-	TCCT	TCCT	rs150939276	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:226377346_226377347insTCCT	uc002voe.2	+						KIAA1486_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	hypothetical protein LOC57624											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)		tttactttttctccttccttcc	0.015													5	4	---	---	---	---	
VENTXP7	391518	broad.mit.edu	37	3	21447903	21447904	+	RNA	INS	-	CA	CA			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:21447903_21447904insCA	uc003ccd.2	+	1		c.686_687insCA				NR_002311				Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA.												0						GGCATACCACCCCCCACGCCCA	0.653													4	3	---	---	---	---	
CLASP2	23122	broad.mit.edu	37	3	33614404	33614404	+	Intron	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33614404delT	uc003cfu.2	-						CLASP2_uc003cfs.2_Intron|CLASP2_uc003cft.2_Intron|CLASP2_uc010hgb.2_Intron|CLASP2_uc011axt.1_Intron	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	CLIP-associating protein 2											ovary(3)|central_nervous_system(1)	4						GAACaaataattttttttttt	0.209													4	2	---	---	---	---	
RHOA	387	broad.mit.edu	37	3	49406140	49406141	+	Intron	INS	-	T	T	rs113482965		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49406140_49406141insT	uc003cwu.2	-						RHOA_uc010hku.2_Intron	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor						axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	tttcttttttcttttttttttt	0.158													4	2	---	---	---	---	
EPHB3	2049	broad.mit.edu	37	3	184295691	184295691	+	Frame_Shift_Del	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184295691delG	uc003foz.2	+	8	2082	c.1645delG	c.(1645-1647)GGGfs	p.G549fs		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	549	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCAGGCTCTGGGGCCCAGCA	0.632													48	61	---	---	---	---	
CPE	1363	broad.mit.edu	37	4	166327007	166327007	+	Intron	DEL	A	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:166327007delA	uc003irg.3	+							NM_001873	NP_001864	P16870	CBPE_HUMAN	carboxypeptidase E preproprotein						cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGACTTCAGGAGCACCGAATA	0.468													13	7	---	---	---	---	
ENPP6	133121	broad.mit.edu	37	4	185033722	185033723	+	Intron	INS	-	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185033722_185033723insA	uc003iwc.2	-							NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase						lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		ATGCCTAAGTGAAAAAATCTTT	0.312													7	5	---	---	---	---	
Unknown	0	broad.mit.edu	37	5	3276446	3276446	+	IGR	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:3276446delG								C5orf38 (520934 upstream) : IRX1 (319722 downstream)																							ggaggaaggagggaggggagg	0.000													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	5	7207130	7207131	+	IGR	INS	-	CCTT	CCTT	rs151227804	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7207130_7207131insCCTT								PAPD7 (449969 upstream) : ADCY2 (189212 downstream)																							CTTTttccttcccttccttcct	0.109													3	4	---	---	---	---	
MARCH6	10299	broad.mit.edu	37	5	10424069	10424069	+	Intron	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10424069delT	uc003jet.1	+						MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_Intron|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6						protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2						ATATATAACCTTTTTTTTTTT	0.214													4	2	---	---	---	---	
CDH12	1010	broad.mit.edu	37	5	21802702	21802703	+	Intron	INS	-	TTTT	TTTT	rs28497222		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:21802702_21802703insTTTT	uc010iuc.2	-						CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						Atttttttttcttttttttttt	0.144										HNSCC(59;0.17)	OREG0016539	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	5	23230813	23230816	+	IGR	DEL	ACAT	-	-	rs146447494		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23230813_23230816delACAT								CDH12 (377082 upstream) : PRDM9 (276908 downstream)																							acacacacacacatacacacacGT	0.176													4	2	---	---	---	---	
CDH10	1008	broad.mit.edu	37	5	24535664	24535664	+	Intron	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24535664delC	uc003jgr.1	-						CDH10_uc011cnu.1_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TATCATTTAACTTTGAGTTCT	0.343										HNSCC(23;0.051)			9	6	---	---	---	---	
ADAMTS12	81792	broad.mit.edu	37	5	33596054	33596054	+	Frame_Shift_Del	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33596054delT	uc003jia.1	-	17	2802	c.2639delA	c.(2638-2640)AAGfs	p.K880fs	ADAMTS12_uc010iuq.1_Frame_Shift_Del_p.K795fs	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	880	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						TGGACAAGCCTTTTCATGGCA	0.502										HNSCC(64;0.19)			130	76	---	---	---	---	
Unknown	0	broad.mit.edu	37	5	90475785	90475786	+	IGR	INS	-	A	A	rs140241795	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90475785_90475786insA								GPR98 (15753 upstream) : ARRDC3 (188755 downstream)																							aggaaggaaggaggaaggaagg	0.030													5	4	---	---	---	---	
PPIP5K2	23262	broad.mit.edu	37	5	102515934	102515935	+	Intron	DEL	TA	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102515934_102515935delTA	uc003kod.3	+						PPIP5K2_uc011cva.1_Intron|PPIP5K2_uc003koe.2_Intron|PPIP5K2_uc003kof.2_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1						inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						GTAAACTAACTATATTTTAATA	0.257													15	22	---	---	---	---	
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908801	139908802	+	Frame_Shift_Ins	INS	-	G	G			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139908801_139908802insG	uc003lfs.1	+	29	6394_6395	c.6270_6271insG	c.(6268-6273)AGTCCTfs	p.S2090fs	ANKHD1_uc003lfr.2_Frame_Shift_Ins_p.S2090fs|ANKHD1-EIF4EBP3_uc011czh.1_Frame_Shift_Ins_p.S829fs|ANKHD1_uc003lfw.2_Frame_Shift_Ins_p.S728fs|ANKHD1_uc010jfl.2_Frame_Shift_Ins_p.S525fs|ANKHD1-EIF4EBP3_uc003lfx.1_Frame_Shift_Ins_p.S227fs	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2090_2091						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATTTAAGTCCTATGTCAAT	0.480													150	170	---	---	---	---	
GABRA6	2559	broad.mit.edu	37	5	161119134	161119134	+	Frame_Shift_Del	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:161119134delG	uc003lyu.2	+	8	1352	c.1014delG	c.(1012-1014)AAGfs	p.K338fs	GABRA6_uc003lyv.2_Frame_Shift_Del_p.K109fs	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	338	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAAAAGGAAGGCACAGTTTG	0.428										TCGA Ovarian(5;0.080)			57	60	---	---	---	---	
STK10	6793	broad.mit.edu	37	5	171533644	171533644	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:171533644delC	uc003mbo.1	-	6	1068	c.768delG	c.(766-768)ACGfs	p.T256fs		NM_005990	NP_005981	O94804	STK10_HUMAN	serine/threonine kinase 10	256	Protein kinase.						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)			GCGTGAGCAGCGTGGGAGGGT	0.662											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	26	---	---	---	---	
NSD1	64324	broad.mit.edu	37	5	176636530	176636530	+	Intron	DEL	A	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176636530delA	uc003mfr.3	+						NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Intron|NSD1_uc011dfx.1_Intron	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		actctgtctcaaaaaaaaaaa	0.124			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			4	2	---	---	---	---	
TRIM41	90933	broad.mit.edu	37	5	180661814	180661814	+	3'UTR	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180661814delG	uc003mne.1	+	6					TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_3'UTR	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1							cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCAGCACTTGGGGGGTGGGT	0.612													55	63	---	---	---	---	
Unknown	0	broad.mit.edu	37	6	9100745	9100745	+	IGR	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:9100745delC								HULC (446668 upstream) : None (None downstream)																							cctctctcttcctttcttcct	0.000													6	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	6	15710434	15710437	+	IGR	DEL	CTTT	-	-	rs12191708		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15710434_15710437delCTTT								DTNBP1 (47163 upstream) : MYLIP (418880 downstream)																							tccttccttcctttcttcctttct	0.088													9	4	---	---	---	---	
MRPS18B	28973	broad.mit.edu	37	6	30585855	30585855	+	Intron	DEL	C	-	-	rs3214308		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30585855delC	uc003nqo.2	+						PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_Intron|MRPS18B_uc010jsd.1_Intron	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B precursor						translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			ovary(1)	1						CTTCCTGCAACCCCCCCCCCA	0.512													6	3	---	---	---	---	
ANKS1A	23294	broad.mit.edu	37	6	35052056	35052056	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35052056delG	uc003ojx.3	+						ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Intron|ANKS1A_uc010jvp.1_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain							cytoplasm	protein binding			ovary(3)|upper_aerodigestive_tract(1)	4						TCCTGGGGCCGGGTGGGGCAG	0.632													24	39	---	---	---	---	
Unknown	0	broad.mit.edu	37	6	64122800	64122803	+	IGR	DEL	AGAG	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64122800_64122803delAGAG								LGSN (92918 upstream) : PTP4A1 (108848 downstream)																							agggagagaaagagagagagagaa	0.044													4	5	---	---	---	---	
CGA	1081	broad.mit.edu	37	6	87795427	87795427	+	3'UTR	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87795427delC	uc003plj.1	-	4						NM_000735	NP_000726	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide						hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)	1		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ACTTAATTTTCCATTCCAGAA	0.388													12	7	---	---	---	---	
SGK1	6446	broad.mit.edu	37	6	134583250	134583250	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134583250delC	uc003qeo.3	-	2	704	c.106delG	c.(106-108)GACfs	p.D36fs	SGK1_uc003qep.2_Frame_Shift_Del_p.D36fs	NM_001143676	NP_001137148	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1 isoform	Error:Variant_position_missing_in_O00141_after_alignment					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGATGCTTGTCCACACTGACC	0.493													142	133	---	---	---	---	
FRMD1	79981	broad.mit.edu	37	6	168479413	168479413	+	Intron	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168479413delC	uc003qwo.3	-						FRMD1_uc003qwn.3_5'Flank	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1							cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCCTCCTCACCCCCATGGCT	0.498													3	5	---	---	---	---	
AVL9	23080	broad.mit.edu	37	7	33066270	33066270	+	Intron	DEL	T	-	-	rs34317509		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:33066270delT	uc011kai.1	+						NT5C3_uc003tdi.2_Intron|NT5C3_uc003tdj.2_Intron|NT5C3_uc003tdk.2_Intron	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)							integral to membrane					0						tgcccggccAttttttttttt	0.000													6	3	---	---	---	---	
VSTM2A	222008	broad.mit.edu	37	7	54610413	54610413	+	5'UTR	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:54610413delC	uc010kzf.2	+	1					VSTM2A_uc010kze.2_5'UTR|VSTM2A_uc003tqc.3_5'UTR	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2							extracellular region					0			STAD - Stomach adenocarcinoma(5;0.0525)			TGACCCCCCTCCCTTTTTGGA	0.493													102	59	---	---	---	---	
Unknown	0	broad.mit.edu	37	7	96377093	96377094	+	IGR	INS	-	CCTT	CCTT	rs6953216		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96377093_96377094insCCTT								SHFM1 (37890 upstream) : DLX6AS (220734 downstream)																							cttcttttctcccttccttcct	0.193													4	2	---	---	---	---	
CTTNBP2	83992	broad.mit.edu	37	7	117431274	117431274	+	Frame_Shift_Del	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117431274delG	uc003vjf.2	-	4	2068	c.1976delC	c.(1975-1977)CCTfs	p.P659fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	659										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AATGGTGGTAGGAATGACAAG	0.562													95	43	---	---	---	---	
PLXNA4	91584	broad.mit.edu	37	7	132076428	132076428	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132076428delG	uc003vra.3	-						PLXNA4_uc003vrc.2_Intron	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1							integral to membrane|intracellular|plasma membrane				ovary(1)	1						tgctaaaagtggggaaccagt	0.000													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	8	5707187	5707187	+	IGR	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:5707187delG								CSMD1 (854859 upstream) : MCPH1 (556934 downstream)																							ACCAGTGCTTGGCAACCAAGG	0.428													15	7	---	---	---	---	
Unknown	0	broad.mit.edu	37	8	96800635	96800636	+	IGR	INS	-	CTTCCTTC	CTTCCTTC	rs149285093	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:96800635_96800636insCTTCCTTC								C8orf37 (519198 upstream) : GDF6 (353924 downstream)																							tcccttcctttcttccttcctt	0.059													4	3	---	---	---	---	
MAFA	389692	broad.mit.edu	37	8	144511677	144511678	+	Frame_Shift_Ins	INS	-	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144511677_144511678insA	uc003yyc.1	-	1	899_900	c.899_900insT	c.(898-900)GTGfs	p.V300fs		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	300	Leucine-zipper.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CCAGGCGCCCCACCTCCAGCTT	0.500										HNSCC(29;0.082)			42	23	---	---	---	---	
MPDZ	8777	broad.mit.edu	37	9	13107037	13107037	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13107037delC	uc010mhy.2	-	45	6104	c.6053delG	c.(6052-6054)GGAfs	p.G2018fs	MPDZ_uc003zkx.3_Frame_Shift_Del_p.G242fs|MPDZ_uc003zky.3_Frame_Shift_Del_p.G581fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.G752fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.G869fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.G906fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.G740fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.G2014fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.G1985fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.G2018fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2047	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGGGTGACTCCTTCTAGACT	0.463													109	136	---	---	---	---	
LINGO2	158038	broad.mit.edu	37	9	27950283	27950283	+	Frame_Shift_Del	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27950283delG	uc003zqu.1	-	2	581	c.387delC	c.(385-387)TCCfs	p.S129fs	LINGO2_uc010mjf.1_Frame_Shift_Del_p.S129fs|LINGO2_uc003zqv.1_Frame_Shift_Del_p.S129fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	129	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TAGTGAGATTGGACAGCCCCG	0.443													63	97	---	---	---	---	
FBXW2	26190	broad.mit.edu	37	9	123526674	123526674	+	3'UTR	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123526674delC	uc004bkl.1	-	8					FBXW2_uc011lyc.1_3'UTR|FBXW2_uc004bkn.2_3'UTR|FBXW2_uc004bkm.1_3'UTR|FBXW2_uc010mvj.1_3'UTR	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						CCCTCCCCCACCCCGAGCCCT	0.478													5	6	---	---	---	---	
MYPN	84665	broad.mit.edu	37	10	69955176	69955176	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69955176delG	uc001jnm.3	+						MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Intron|MYPN_uc009xpt.2_Intron|MYPN_uc010qit.1_Intron|MYPN_uc010qiu.1_Intron	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	myopalladin							nucleus|sarcomere	actin binding			ovary(3)|skin(2)	5						GATTGTTCTTGTTTTAATCTT	0.388													53	27	---	---	---	---	
TNKS2	80351	broad.mit.edu	37	10	93621950	93621950	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:93621950delG	uc001khp.2	+							NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related						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)				AAAAATGCTAGGGAGGCATAC	0.284													28	30	---	---	---	---	
PCGF6	84108	broad.mit.edu	37	10	105086145	105086146	+	Intron	INS	-	A	A	rs80089818		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105086145_105086146insA	uc001kwt.2	-						PCGF6_uc001kwu.2_Intron|PCGF6_uc009xxk.2_Intron|PCGF6_uc009xxl.2_Intron|PCGF6_uc009xxm.2_Intron	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6 isoform a						negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)	1		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gactccatctcaaaaaaaaaaa	0.124													3	3	---	---	---	---	
TRUB1	142940	broad.mit.edu	37	10	116734977	116734978	+	Frame_Shift_Ins	INS	-	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116734977_116734978insT	uc001lcd.2	+	8	950_951	c.889_890insT	c.(889-891)ATTfs	p.I297fs	TRUB1_uc010qsl.1_Frame_Shift_Ins_p.I199fs	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase homolog 1	297					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding				0		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAATGGACAATTGATGACATT	0.436													176	100	---	---	---	---	
Unknown	0	broad.mit.edu	37	11	49003444	49003444	+	IGR	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49003444delC								OR4A47 (492172 upstream) : FOLH1 (164744 downstream)																							ACACTACTGACTGGATGACTC	0.388													5	10	---	---	---	---	
Unknown	0	broad.mit.edu	37	11	90671349	90671351	+	IGR	DEL	AAA	-	-	rs5793501	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:90671349_90671351delAAA								MIR1261 (68979 upstream) : None (None downstream)																							aggaaagaagaaagaaggaagga	0.246													3	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	11	102415494	102415497	+	IGR	DEL	TTCT	-	-	rs151134647	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102415494_102415497delTTCT								MMP7 (14016 upstream) : MMP20 (32070 downstream)																							ccttccccccttctttccttcctt	0.074													4	3	---	---	---	---	
BUD13	84811	broad.mit.edu	37	11	116631786	116631787	+	Intron	INS	-	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116631786_116631787insT	uc001ppn.2	-						BUD13_uc001ppo.2_Intron|BUD13_uc009yzc.2_Intron	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1											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)		CATTATTATTAttttttttttt	0.178													4	2	---	---	---	---	
APOBEC1	339	broad.mit.edu	37	12	7802404	7802404	+	Intron	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7802404delT	uc001qtb.2	-						APOBEC1_uc001qtc.2_Intron|APOBEC1_uc010sgf.1_Intron	NM_001644	NP_001635	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme						cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding				0						CTAtttcttcttttttttttt	0.104													4	2	---	---	---	---	
CLEC12A	160364	broad.mit.edu	37	12	10137593	10137593	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10137593delC	uc001qwr.3	+	6	954	c.766delC	c.(766-768)CAGfs	p.Q256fs	CLEC12A_uc001qwq.2_Frame_Shift_Del_p.Q266fs|CLEC12A_uc001qws.3_Frame_Shift_Del_p.Q223fs|CLEC12A_uc001qwt.2_Frame_Shift_Del_p.Q185fs	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	256	Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						caatccagtgcagcttggttc	0.075													16	9	---	---	---	---	
Unknown	0	broad.mit.edu	37	12	30700730	30700731	+	IGR	DEL	TA	-	-	rs72206815		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30700730_30700731delTA								TMTC1 (763038 upstream) : IPO8 (81192 downstream)																							TCTAACCATTTATAGGCTGGTA	0.406													9	7	---	---	---	---	
Unknown	0	broad.mit.edu	37	12	33057328	33057331	+	IGR	DEL	CCTT	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:33057328_33057331delCCTT								PKP2 (7548 upstream) : SYT10 (471017 downstream)																							ttccttctccccttccttccttcc	0.005													2	6	---	---	---	---	
NAV3	89795	broad.mit.edu	37	12	78225094	78225095	+	5'UTR	INS	-	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78225094_78225095insT	uc001syp.2	+	1					NAV3_uc001syo.2_5'UTR	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTGCCTCTTCCTGAAAATTATA	0.297										HNSCC(70;0.22)			41	43	---	---	---	---	
NAV3	89795	broad.mit.edu	37	12	78591022	78591022	+	Intron	DEL	A	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78591022delA	uc001syp.2	+						NAV3_uc001syo.2_Intron|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3							nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTCATTTTTTAAAAGGAATTG	0.333										HNSCC(70;0.22)			38	27	---	---	---	---	
PLXNC1	10154	broad.mit.edu	37	12	94620767	94620767	+	Intron	DEL	C	-	-	rs63735761		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94620767delC	uc001tdc.2	+							NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor						axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						ccactgcactcccagcctggg	0.104													2	5	---	---	---	---	
TXNRD1	7296	broad.mit.edu	37	12	104712786	104712789	+	Frame_Shift_Del	DEL	GTCT	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104712786_104712789delGTCT	uc010swk.1	+	8	848_851	c.826_829delGTCT	c.(826-831)GTCTATfs	p.V276fs	TXNRD1_uc010swl.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swm.1_Frame_Shift_Del_p.V178fs|TXNRD1_uc010swn.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swo.1_Frame_Shift_Del_p.V126fs|TXNRD1_uc010swp.1_Frame_Shift_Del_p.V88fs|TXNRD1_uc010swq.1_Frame_Shift_Del_p.V176fs|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Frame_Shift_Del_p.V192fs	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN	thioredoxin reductase 1 isoform 3	276_277					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity				0						GAAAAAAGTCGTCTATGAGAATGC	0.382													45	42	---	---	---	---	
DNAH10	196385	broad.mit.edu	37	12	124315343	124315343	+	Intron	DEL	T	-	-	rs7976816		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124315343delT	uc001uft.3	+							NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10						microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		aaaaaaaaaattagctgagcg	0.100													5	4	---	---	---	---	
GALK2	2585	broad.mit.edu	37	15	49493237	49493237	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49493237delG	uc001zxj.1	+						GALK2_uc001zxi.1_Intron|GALK2_uc010ufb.1_Intron|GALK2_uc001zxk.2_Intron|GALK2_uc010ufc.1_Intron	NM_002044	NP_002035	Q01415	GALK2_HUMAN	galactokinase 2 isoform 1						galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)	1		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		AATTAATGGTGGCAGGCATAT	0.234													5	3	---	---	---	---	
TMOD3	29766	broad.mit.edu	37	15	52200810	52200810	+	Intron	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52200810delT	uc002abm.2	+						TMOD3_uc010bfc.1_Intron|TMOD3_uc002abn.2_5'Flank	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)							cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)		AAGTAGGTTGttttttttttt	0.338													4	2	---	---	---	---	
NEO1	4756	broad.mit.edu	37	15	73585763	73585763	+	Frame_Shift_Del	DEL	G	-	-	rs149490246	byFrequency	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:73585763delG	uc002avm.3	+	26	3917	c.3775delG	c.(3775-3777)GATfs	p.D1259fs	NEO1_uc010ukx.1_Frame_Shift_Del_p.D1248fs|NEO1_uc010uky.1_Intron|NEO1_uc010ukz.1_Frame_Shift_Del_p.D672fs|NEO1_uc002avn.3_Frame_Shift_Del_p.D897fs	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1 precursor	1259	Cytoplasmic (Potential).				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1						CCATTCCCTCGATAACCCTCA	0.502													192	122	---	---	---	---	
SLC28A1	9154	broad.mit.edu	37	15	85432943	85432944	+	Intron	INS	-	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85432943_85432944insT	uc002blg.2	+						SLC28A1_uc010upd.1_Intron|SLC28A1_uc010bnb.2_Intron|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Intron|SLC28A1_uc010upg.1_Intron|SLC28A1_uc002blf.2_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ttccttctttccttccttcctt	0.050													4	2	---	---	---	---	
CORO7	79585	broad.mit.edu	37	16	4414342	4414342	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4414342delC	uc002cwh.3	-	14	1330	c.1210delG	c.(1210-1212)GAGfs	p.E404fs	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Frame_Shift_Del_p.E404fs|CORO7_uc002cwg.3_Frame_Shift_Del_p.E184fs|CORO7_uc010uxh.1_Frame_Shift_Del_p.E386fs|CORO7_uc010uxi.1_Frame_Shift_Del_p.E319fs|CORO7_uc002cwi.1_Frame_Shift_Del_p.E184fs|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_Frame_Shift_Del_p.E184fs	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	404						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GGGAGGGGCTCCGCAGGGGGC	0.682													14	19	---	---	---	---	
PPL	5493	broad.mit.edu	37	16	4938713	4938714	+	Intron	INS	-	TTT	TTT	rs34143557		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4938713_4938714insTTT	uc002cyd.1	-							NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin						keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6						tttatcctgcattttttttttt	0.000													5	5	---	---	---	---	
LOC595101	595101	broad.mit.edu	37	16	30291742	30291742	+	Intron	DEL	A	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30291742delA	uc002dxp.1	-							NR_002453				Homo sapiens cDNA FLJ39663 fis, clone SMINT2007187.												0						AACAAAATAGAAAAAAAAAAA	0.358													5	3	---	---	---	---	
SLC6A2	6530	broad.mit.edu	37	16	55728016	55728017	+	Frame_Shift_Ins	INS	-	C	C			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55728016_55728017insC	uc002eif.2	+	7	1124_1125	c.1013_1014insC	c.(1012-1014)AACfs	p.N338fs	SLC6A2_uc010ccd.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eig.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eih.2_Frame_Shift_Ins_p.N338fs|SLC6A2_uc002eii.2_Frame_Shift_Ins_p.N233fs|SLC6A2_uc002eij.2_Frame_Shift_Ins_p.N52fs	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	338					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTTGACAACAACTGTTACAGGT	0.436													58	44	---	---	---	---	
DNAH2	146754	broad.mit.edu	37	17	7640532	7640532	+	Frame_Shift_Del	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7640532delC	uc002giu.1	+	7	1140	c.1126delC	c.(1126-1128)CCCfs	p.P376fs	DNAH2_uc002git.2_Frame_Shift_Del_p.P376fs|DNAH2_uc010vuk.1_Frame_Shift_Del_p.P376fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	376	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)				GGTCAACTCTCCCCACTACAA	0.537													48	57	---	---	---	---	
TAC4	255061	broad.mit.edu	37	17	47925054	47925055	+	Intron	INS	-	AC	AC	rs150685532	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47925054_47925055insAC	uc002ipo.1	-						TAC4_uc002ipp.1_Intron|TAC4_uc002ipq.1_Intron|TAC4_uc002ipr.1_Intron|TAC4_uc002ips.1_Intron|TAC4_uc002ipt.2_Intron|TAC4_uc002ipu.2_Intron	NM_170685	NP_733786	Q86UU9	TKN4_HUMAN	tachykinin 4 isoform alpha						regulation of blood pressure	extracellular region				breast(1)	1						cacacacacagacacacacaca	0.183													3	3	---	---	---	---	
UTP18	51096	broad.mit.edu	37	17	49354781	49354781	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49354781delG	uc002its.2	+							NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	UTP18, small subunit processome component						rRNA processing	nucleolus					0			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AGTTTCTTTAGGTATAGTGTT	0.343													4	6	---	---	---	---	
SEPT4	5414	broad.mit.edu	37	17	56603935	56603942	+	Intron	DEL	ACACACAC	-	-	rs112819371		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56603935_56603942delACACACAC	uc002iwm.1	-						SEPT4_uc002iwk.1_Intron|SEPT4_uc010wnw.1_Intron|SEPT4_uc002iwl.1_5'UTR|SEPT4_uc002iwn.1_Intron|SEPT4_uc002iwo.1_Intron|SEPT4_uc002iwp.1_Intron|SEPT4_uc010wnx.1_Intron|SEPT4_uc010wny.1_Intron|SEPT4_uc010dcy.1_Intron	NM_004574	NP_004565	O43236	SEPT4_HUMAN	septin 4 isoform 1						apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity				0	Medulloblastoma(34;0.127)|all_neural(34;0.237)					acacacacaaacacacacacacacacac	0.423													4	2	---	---	---	---	
TUBD1	51174	broad.mit.edu	37	17	57963684	57963684	+	Intron	DEL	A	-	-	rs113094238		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57963684delA	uc002ixw.1	-						TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Intron|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Intron|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	delta-tubulin						cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			ovary(1)	1	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GTCCAAATCCAAAAAAAAAAA	0.373													4	2	---	---	---	---	
CCDC45	90799	broad.mit.edu	37	17	62528251	62528252	+	Intron	INS	-	T	T	rs71831837		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62528251_62528252insT	uc002jem.2	+						CCDC45_uc002jen.2_Intron|CCDC45_uc010wqb.1_Intron|CCDC45_uc002jeo.1_5'Flank	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45							centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCGAAGAAAGTTTTTTTTTTT	0.426													9	4	---	---	---	---	
FN3K	64122	broad.mit.edu	37	17	80696192	80696193	+	Intron	INS	-	G	G	rs140281589	by1000genomes	TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80696192_80696193insG	uc010wvs.1	+						FN3K_uc002kfw.1_5'UTR	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	fructosamine 3 kinase						fructoselysine metabolic process		fructosamine-3-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)			TCGTCTCCGACGGGGGGCCCCT	0.653													3	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	18	39965059	39965059	+	Intron	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39965059delC	uc002las.1	+						uc002lat.2_Intron|uc002lau.2_Intron					Homo sapiens hypothetical gene supported by BC011527; BC021928; BC011527; BC021928, mRNA (cDNA clone IMAGE:3872963), with apparent retained intron.																		ctccatccCtccctcccttca	0.080													3	5	---	---	---	---	
RAX2	84839	broad.mit.edu	37	19	3771726	3771727	+	Frame_Shift_Ins	INS	-	T	T	rs144065007		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3771726_3771727insT	uc002lys.2	-	2	82_83	c.14_15insA	c.(13-15)CCGfs	p.P5fs	RAX2_uc010dtp.1_RNA|RAX2_uc002lyr.2_Frame_Shift_Ins_p.P51fs	NM_032753	NP_116142	Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	5					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCTCGCCCGGGCTCAGGAA	0.723													11	6	---	---	---	---	
MUC16	94025	broad.mit.edu	37	19	9088753	9088753	+	Frame_Shift_Del	DEL	A	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9088753delA	uc002mkp.2	-	1	3266	c.3062delT	c.(3061-3063)ATCfs	p.I1021fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1021	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTTGTGAGGATGGTTGTTGA	0.468													121	93	---	---	---	---	
DNM2	1785	broad.mit.edu	37	19	10912901	10912932	+	Intron	DEL	TTGCCGCTGCCCCCCCTTGCCAGGCTTGGCCT	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10912901_10912932delTTGCCGCTGCCCCCCCTTGCCAGGCTTGGCCT	uc002mps.1	+						DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Intron|DNM2_uc002mpv.1_Intron|DNM2_uc002mpu.1_Intron|DNM2_uc010dxl.1_Intron|DNM2_uc002mpw.2_Intron	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2						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)			GGAAATGCTCTTGCCGCTGCCCCCCCTTGCCAGGCTTGGCCTTGTACTCACA	0.603													10	13	---	---	---	---	
CYP4F12	66002	broad.mit.edu	37	19	15791473	15791473	+	Intron	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15791473delG	uc002nbl.2	+						CYP4F12_uc010xoo.1_Frame_Shift_Del_p.M223fs|CYP4F12_uc010xop.1_3'UTR	NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					tctgtaaaatggggatgataa	0.184													6	9	---	---	---	---	
Unknown	0	broad.mit.edu	37	19	30401530	30401531	+	IGR	DEL	CT	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30401530_30401531delCT								CCNE1 (86312 upstream) : C19orf2 (13020 downstream)																							gcctctctccctctctcccccc	0.015													4	2	---	---	---	---	
RYR1	6261	broad.mit.edu	37	19	39076717	39076718	+	Intron	INS	-	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39076717_39076718insT	uc002oit.2	+						RYR1_uc002oiu.2_Intron	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTGATGTCTCTTGCCACTCAC	0.545													26	23	---	---	---	---	
HNRNPL	3191	broad.mit.edu	37	19	39340235	39340235	+	Intron	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39340235delC	uc010xul.1	-						HNRNPL_uc010xum.1_Intron	NM_001533	NP_001524	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L						nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding				0	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GACGCGATGGCCTGGGCGCGT	0.701													4	2	---	---	---	---	
Unknown	0	broad.mit.edu	37	19	45833481	45833484	+	IGR	DEL	TCTT	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45833481_45833484delTCTT								CKM (7347 upstream) : KLC3 (10514 downstream)																							ttcctccctctcttcctctcttcc	0.010													3	3	---	---	---	---	
ADAM33	80332	broad.mit.edu	37	20	3654806	3654807	+	Intron	INS	-	T	T			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3654806_3654807insT	uc002wit.2	-						ADAM33_uc002wir.1_Intron|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Intron|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Intron|ADAM33_uc010zqh.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						AATCCCGGTGGCTTGAGGGGCT	0.599													54	39	---	---	---	---	
Unknown	0	broad.mit.edu	37	20	32823673	32823676	+	IGR	DEL	AAGG	-	-	rs71337945		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32823673_32823676delAAGG								EIF2S2 (123588 upstream) : ASIP (24495 downstream)																							gaaggaaggaaaggaaggaaggaa	0.000													6	3	---	---	---	---	
ITGB2	3689	broad.mit.edu	37	21	46320553	46320569	+	Intron	DEL	ACGCCCAGGAGGAGACA	-	-	rs79643064		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46320553_46320569delACGCCCAGGAGGAGACA	uc002zgd.2	-						ITGB2_uc002zge.2_Intron|ITGB2_uc002zgf.3_Intron|ITGB2_uc011afl.1_Intron|ITGB2_uc010gpw.2_Intron|ITGB2_uc002zgg.2_Intron	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor						apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCCAGACGCCACGCCCAGGAGGAGACAACGGCCCTCA	0.659													2	4	---	---	---	---	
Unknown	0	broad.mit.edu	37	22	20188920	20188931	+	Intron	DEL	CCTTCCTTCCTT	-	-	rs71987686		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20188920_20188931delCCTTCCTTCCTT	uc002zrs.1	-											Homo sapiens cDNA FLJ35233 fis, clone PROST2001540.																		ccctccctacccttccttccttccttccttcc	0.085													1	6	---	---	---	---	
LOC96610	96610	broad.mit.edu	37	22	22694982	22694982	+	Intron	DEL	C	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:22694982delC	uc011aim.1	+											Parts of antibodies, mostly variable regions.												0						TGAGATGCCACCAGACACTGC	0.448													9	11	---	---	---	---	
DEPDC5	9681	broad.mit.edu	37	22	32180607	32180607	+	Intron	DEL	A	-	-	rs36118041		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32180607delA	uc003als.2	+						DEPDC5_uc011als.1_Intron|DEPDC5_uc011alu.1_Intron|DEPDC5_uc011alv.1_Intron|DEPDC5_uc003alt.2_Intron|DEPDC5_uc003alr.1_Intron|DEPDC5_uc011alt.1_Intron	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1						intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8						ctcccatctcaaaaaaaaaaa	0.154													4	2	---	---	---	---	
RANGAP1	5905	broad.mit.edu	37	22	41664101	41664102	+	Frame_Shift_Ins	INS	-	A	A			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41664101_41664102insA	uc003azs.2	-	3	1769_1770	c.299_300insT	c.(298-300)CTGfs	p.L100fs	RANGAP1_uc003azt.2_Frame_Shift_Ins_p.L100fs|RANGAP1_uc003azu.2_Frame_Shift_Ins_p.L100fs|RANGAP1_uc011aoz.1_Frame_Shift_Ins_p.L90fs	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	100					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity				0						GTTCGCTTACCAGGGCTGGTGG	0.564													4	2	---	---	---	---	
TTLL12	23170	broad.mit.edu	37	22	43576230	43576230	+	Intron	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43576230delT	uc003bdq.2	-						TTLL12_uc003bdr.1_Intron	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12						protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				ACACTCGTGGTAAAAGGGCGT	0.468													2	5	---	---	---	---	
MLC1	23209	broad.mit.edu	37	22	50502369	50502370	+	Intron	DEL	TT	-	-	rs13053814		TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50502369_50502370delTT	uc003bjg.1	-						MLC1_uc011arl.1_Intron|MLC1_uc003bjh.1_Intron|MLC1_uc011arm.1_Intron|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Intron	NM_139202	NP_631941	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with							basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			pancreas(1)	1		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCTCCCCAGCTTCCCCCCACCC	0.733													5	3	---	---	---	---	
Unknown	0	broad.mit.edu	37	X	5224423	5224423	+	IGR	DEL	A	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5224423delA								None (None upstream) : NLGN4X (583661 downstream)																							AGACTGGGACAGCGCAGTGCA	0.502													9	10	---	---	---	---	
SSX3	10214	broad.mit.edu	37	X	48208961	48208962	+	Intron	DEL	TG	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48208961_48208962delTG	uc004djd.1	-						SSX3_uc004dje.2_Intron	NM_021014	NP_066294	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0						caaaaaacaatgtgtgtgactc	0.069													18	28	---	---	---	---	
Unknown	0	broad.mit.edu	37	X	65718140	65718140	+	IGR	DEL	A	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65718140delA								HEPH (230912 upstream) : EDA2R (97343 downstream)																							GCCTACATGGAAAAGTGTGAT	0.493													20	31	---	---	---	---	
GLUD2	2747	broad.mit.edu	37	X	120182757	120182757	+	Frame_Shift_Del	DEL	G	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120182757delG	uc004eto.2	+	1	1296	c.1219delG	c.(1219-1221)GGGfs	p.G407fs		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2 precursor	407					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGGTGCCAATGGGCCAACAAC	0.468													78	153	---	---	---	---	
SLITRK2	84631	broad.mit.edu	37	X	144906278	144906278	+	Frame_Shift_Del	DEL	T	-	-			TCGA-33-4566-01A-01D-1441-08	TCGA-33-4566-11A-01D-1441-08									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:144906278delT	uc004fcd.2	+	5	3325	c.2335delT	c.(2335-2337)TTAfs	p.L779fs	SLITRK2_uc010nsp.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.L779fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.L779fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.L779fs|CXorf1_uc004fch.2_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	779	Cytoplasmic (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTGTACCTTACCTAAAAG	0.458													76	113	---	---	---	---	
