Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
HP1BP3	50809	broad.mit.edu	37	1	21071490	21071490	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:21071490G>A	uc001bdw.1	-	13	1602	c.1462C>T	c.(1462-1464)CGG>TGG	p.R488W	HP1BP3_uc001bdv.1_Missense_Mutation_p.R450W|HP1BP3_uc010odh.1_Missense_Mutation_p.R450W|HP1BP3_uc001bdy.1_Missense_Mutation_p.R488W|HP1BP3_uc010odf.1_Missense_Mutation_p.R147W|HP1BP3_uc010odg.1_Missense_Mutation_p.R336W	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	488	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|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;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GCTTTCCCCCGCTGGGCAGCT	0.557000												
RAVER2	55225	broad.mit.edu	37	1	65255185	65255185	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:65255185G>A	uc001dbs.1	+	5	1171	c.1093G>A	c.(1093-1095)GCT>ACT	p.A365T	RAVER2_uc001dbt.1_Missense_Mutation_p.A244T|RAVER2_uc010opb.1_Missense_Mutation_p.A244T	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	365						cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1						ATGTGGACGAGCTGTTAAACC	0.358000												
ADORA3	140	broad.mit.edu	37	1	112031538	112031538	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:112031538C>T	uc001ebf.2	-	3	1333	c.566G>A	c.(565-567)CGA>CAA	p.R189Q	ADORA3_uc001ebg.3_Missense_Mutation_p.R108Q	NM_020683	NP_065734	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 1	Error:Variant_position_missing_in_P33765_after_alignment					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.P189P(1)		ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GAAATAGCCTCGGCACCAGTA	0.507000												
NOTCH2	4853	broad.mit.edu	37	1	120493400	120493400	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:120493400G>T	uc001eik.2	-	15	2682	c.2426C>A	c.(2425-2427)ACC>AAC	p.T809N	NOTCH2_uc001eil.2_Missense_Mutation_p.T809N|NOTCH2_uc001eim.3_Missense_Mutation_p.T726N	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	809	EGF-like 21; calcium-binding (Potential).|Extracellular (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCAAAGCAGGTTCCTTGGTT	0.463000			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
NBPF16	728936	broad.mit.edu	37	1	148753300	148753300	+	Silent	SNP	A	A	C			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:148753300A>C	uc010pba.1	+	12	1508	c.1317A>C	c.(1315-1317)TCA>TCC	p.S439S	NBPF16_uc009wkt.1_Silent_p.S219S	NM_001102663	NP_001096133			hypothetical protein LOC728936												0	all_hematologic(923;0.032)					TGCAGGACTCACTGGATAGAT	0.468000												
HRNR	388697	broad.mit.edu	37	1	152188175	152188175	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:152188175C>T	uc001ezt.1	-	3	6006	c.5930G>A	c.(5929-5931)CGT>CAT	p.R1977H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1977	22.				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)			ATATGGGCCACGGCTGGAAGA	0.602000												
IGSF9	57549	broad.mit.edu	37	1	159897636	159897636	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:159897636T>G	uc001fur.2	-	20	3470	c.3272A>C	c.(3271-3273)GAA>GCA	p.E1091A	IGSF9_uc001fuq.2_Missense_Mutation_p.E1075A|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.E237A	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	1091	Cytoplasmic (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGGGAATTCTGAGTCCCA	0.512000												
FMO4	2329	broad.mit.edu	37	1	171310946	171310946	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:171310946T>C	uc001gho.2	+	10	1862	c.1645T>C	c.(1645-1647)TCC>CCC	p.S549P		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	549					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GGACAGAATGTCCCCTTACCT	0.338000												
TNFSF4	7292	broad.mit.edu	37	1	173176198	173176198	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:173176198A>G	uc001giw.2	-	1	274	c.118T>C	c.(118-120)TTC>CTC	p.F40L	TNFSF4_uc001giv.2_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily,	40	Helical; Signal-anchor for type II membrane protein; (Potential).				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			central_nervous_system(1)	1						ATGTAGGTGAAGCACAGGAGC	0.547000												
FAM5C	339479	broad.mit.edu	37	1	190068073	190068073	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:190068073C>T	uc001gse.1	-	8	1608	c.1376G>A	c.(1375-1377)CGC>CAC	p.R459H	FAM5C_uc010pot.1_Missense_Mutation_p.R357H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	459						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					GGTGCCGCAGCGGGTGCGGTT	0.617000												
OR2M2	391194	broad.mit.edu	37	1	248344198	248344198	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:248344198T>A	uc010pzf.1	+	1	911	c.911T>A	c.(910-912)ATC>AAC	p.I304N		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCATGAAGATCTTAGGAAAG	0.413000												
NRP1	8829	broad.mit.edu	37	10	33469182	33469182	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr10:33469182C>T	uc001iwx.3	-	17	3117	c.2594G>A	c.(2593-2595)AGT>AAT	p.S865N	NRP1_uc001iwv.3_Missense_Mutation_p.S848N|NRP1_uc009xlz.2_Missense_Mutation_p.S859N|NRP1_uc001iww.3_Missense_Mutation_p.S677N|NRP1_uc001iwy.3_Missense_Mutation_p.S858N	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	865	Helical; (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	CCCCAGGGCACTCATGGCTAT	0.537000												
EBF3	253738	broad.mit.edu	37	10	131760472	131760472	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr10:131760472T>A	uc001lki.1	-	4	433	c.374A>T	c.(373-375)GAT>GTT	p.D125V	EBF3_uc010qur.1_3'UTR	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	125					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AACATACAGATCTTGCTCTGT	0.493000												
RBMXL2	27288	broad.mit.edu	37	11	7110411	7110411	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:7110411C>T	uc001mfc.2	+	1	247	c.60C>T	c.(58-60)GAC>GAT	p.D20D		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	20	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGAAACCGACGAGAAAGCCC	0.607000												
SYT9	143425	broad.mit.edu	37	11	7334764	7334764	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:7334764C>T	uc001mfe.2	+	3	873	c.636C>T	c.(634-636)GAC>GAT	p.D212D	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	212	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATAATGATGACGGGAGACGGA	0.403000												
PAX6	5080	broad.mit.edu	37	11	31822268	31822268	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:31822268C>A	uc001mtd.3	-	6	1384	c.494G>T	c.(493-495)GGG>GTG	p.G165V	PAX6_uc001mte.3_Missense_Mutation_p.G165V|PAX6_uc001mtg.3_Missense_Mutation_p.G179V|PAX6_uc001mtf.3_Missense_Mutation_p.G165V|PAX6_uc001mth.3_Missense_Mutation_p.G165V|PAX6_uc009yjr.2_Missense_Mutation_p.G165V	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	paired box gene 6 isoform a	165	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			lung(4)|ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	9	Lung SC(675;0.225)					CACCGAAGTCCCCGGATACCA	0.572000									Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation			
F2	2147	broad.mit.edu	37	11	46750282	46750282	+	Missense_Mutation	SNP	G	G	A	rs143498218		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:46750282G>A	uc001ndf.3	+	11	1410	c.1367G>A	c.(1366-1368)CGG>CAG	p.R456Q	F2_uc001ndg.3_RNA	NM_000506	NP_000497	P00734	THRB_HUMAN	coagulation factor II preproprotein	456	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			ovary(3)	3		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TACAACTGGCGGGAGAACCTG	0.517000												
C11orf66	220004	broad.mit.edu	37	11	61254513	61254513	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:61254513C>T	uc001nru.1	+	10	1053	c.928C>T	c.(928-930)CGG>TGG	p.R310W	C11orf66_uc009ynq.1_Missense_Mutation_p.R290W	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	310										ovary(1)	1						CCTGCTTGGCCGGGAGACTGT	0.582000												
MARK2	2011	broad.mit.edu	37	11	63671514	63671514	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:63671514C>T	uc001nxw.2	+	15	2150	c.1571C>T	c.(1570-1572)GCG>GTG	p.A524V	MARK2_uc001nxx.2_Intron|MARK2_uc001nxy.2_Intron|MARK2_uc001nxv.3_Intron|MARK2_uc001nxz.3_Missense_Mutation_p.A490V|MARK2_uc009yoy.2_Intron	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	524					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						GCAGTCTCTGCGGCCCGGCCC	0.662000												
KCNK7	10089	broad.mit.edu	37	11	65361001	65361001	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:65361001G>A	uc001oes.2	-	2	888	c.664C>T	c.(664-666)CGC>TGC	p.R222C	KCNK7_uc001oeq.2_Missense_Mutation_p.R222C|KCNK7_uc001oer.2_Missense_Mutation_p.R222C|KCNK7_uc001oeu.2_Missense_Mutation_p.R222C	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7 isoform	222						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0						CTGCGGCCGCGGCCGGGCAGC	0.657000												
RSF1	51773	broad.mit.edu	37	11	77378083	77378083	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:77378083G>T	uc001oyn.2	-	16	4325	c.4205C>A	c.(4204-4206)GCA>GAA	p.A1402E	RSF1_uc001oym.2_Missense_Mutation_p.A1150E	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1402					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GGCTAGGCTTGCACTGGCTGT	0.527000												
OR10G8	219869	broad.mit.edu	37	11	123901046	123901046	+	Silent	SNP	C	C	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr11:123901046C>A	uc001pzp.1	+	1	717	c.717C>A	c.(715-717)ACC>ACA	p.T239T		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	239	Helical; Name=6; (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)		CCTTTCAGACCTGTGCCTCCC	0.562000												
SLC2A13	114134	broad.mit.edu	37	12	40265616	40265616	+	Silent	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:40265616G>T	uc010skm.1	-	5	1233	c.1182C>A	c.(1180-1182)ACC>ACA	p.T394T	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.T41T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose	394	Helical; Name=9; (Potential).					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			ovary(1)	1		Lung NSC(34;0.105)|all_lung(34;0.123)				AACTACCAAAGGTAAGCTTTC	0.383000										HNSCC(50;0.14)		
RDH16	8608	broad.mit.edu	37	12	57351150	57351150	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:57351150A>G	uc001smi.3	-	1	269	c.97T>C	c.(97-99)TTC>CTC	p.F33L	RDH16_uc009zpa.2_5'UTR|RDH16_uc010sqx.1_RNA	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	33	NAD (By similarity).|Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						CCCGTGATGAACACATACTTA	0.587000												
NAV3	89795	broad.mit.edu	37	12	78400619	78400619	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:78400619G>T	uc001syp.2	+	8	1474	c.1301G>T	c.(1300-1302)GGC>GTC	p.G434V	NAV3_uc001syo.2_Missense_Mutation_p.G434V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	434						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						AATAGTGGTGGCTCAACAAAT	0.453000										HNSCC(70;0.22)		
DCN	1634	broad.mit.edu	37	12	91558423	91558423	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr12:91558423C>T	uc001tbs.2	-	2	377	c.283G>A	c.(283-285)GAA>AAA	p.E95K	DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Missense_Mutation_p.E95K|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.E95K|DCN_uc001tbu.2_Missense_Mutation_p.E95K	NM_133503	NP_598010	P07585	PGS2_HUMAN	decorin isoform a preproprotein	95	LRR 2.				organ morphogenesis	extracellular space				central_nervous_system(2)|ovary(1)|lung(1)	4						TCTTTGATTTCGGTTATTTTG	0.373000												
SACS	26278	broad.mit.edu	37	13	23914670	23914670	+	Silent	SNP	G	G	A	rs143287019	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr13:23914670G>A	uc001uon.2	-	10	3934	c.3345C>T	c.(3343-3345)GTC>GTT	p.V1115V	SACS_uc001uoo.2_Silent_p.V968V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	1115					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)		GACAAGCACCGACCTGTAAGG	0.378000												
LNX2	222484	broad.mit.edu	37	13	28143217	28143217	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr13:28143217C>T	uc001url.3	-	3	913	c.604G>A	c.(604-606)GAG>AAG	p.E202K	LNX2_uc001urm.1_Missense_Mutation_p.E202K	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	202							zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCAGGCTCCTCACTCCATGTG	0.527000												
SIX6	4990	broad.mit.edu	37	14	60976612	60976612	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr14:60976612G>A	uc001xfa.3	+	1	675	c.496G>A	c.(496-498)GGA>AGA	p.G166R		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	166	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CCAGGCAACCGGACTGACCCC	0.617000												
FLRT2	23768	broad.mit.edu	37	14	86089507	86089507	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr14:86089507C>T	uc001xvr.2	+	2	2416	c.1649C>T	c.(1648-1650)GCG>GTG	p.A550V	FLRT2_uc010atd.2_Missense_Mutation_p.A550V	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550	Helical; (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATCGGGGGCGCGGTGATATTT	0.587000												
RHOT2	89941	broad.mit.edu	37	16	722946	722946	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:722946C>A	uc002cip.2	+	18	1613	c.1546C>A	c.(1546-1548)CAG>AAG	p.Q516K	RHOT2_uc002ciq.2_Missense_Mutation_p.Q409K|RHOT2_uc010bqy.2_Missense_Mutation_p.Q295K|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	516	Miro 2.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)				CATGGACGGGCAGACCCCCTG	0.652000												
SYT17	51760	broad.mit.edu	37	16	19191722	19191722	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:19191722C>A	uc002dfw.2	+	4	523	c.192C>A	c.(190-192)AGC>AGA	p.S64R	SYT17_uc002dfx.2_Missense_Mutation_p.S3R|SYT17_uc002dfy.2_Missense_Mutation_p.S60R|SYT17_uc002dfv.1_Missense_Mutation_p.S3R	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	B/K protein	64						membrane|synaptic vesicle	transporter activity			ovary(1)	1						GGATGGCCAGCCGGAGCAGTG	0.597000											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPR139	124274	broad.mit.edu	37	16	20043149	20043149	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:20043149T>C	uc002dgu.1	-	2	1132	c.970A>G	c.(970-972)AGC>GGC	p.S324G	GPR139_uc010vaw.1_Missense_Mutation_p.S231G	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	324	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(2)	2						ATCCAGGGGCTACTTGTTATG	0.483000												
GPR114	221188	broad.mit.edu	37	16	57608778	57608778	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:57608778C>T	uc002elx.3	+	11	1345	c.1260C>T	c.(1258-1260)GGC>GGT	p.G420G	GPR114_uc010vhr.1_Missense_Mutation_p.A381V|GPR114_uc002ely.2_Silent_p.G420G	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	420	Helical; Name=5; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						TGGGCTACGGCGGCCTCACGT	0.701000												
CNOT1	23019	broad.mit.edu	37	16	58554928	58554928	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:58554928C>T	uc002env.2	-	49	7358	c.7065G>A	c.(7063-7065)TCG>TCA	p.S2355S	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.S2350S|CNOT1_uc002ent.2_Silent_p.S293S|CNOT1_uc010vik.1_Silent_p.S1312S	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2355					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTGTGCGACCGACTGGAATA	0.478000												
NECAB2	54550	broad.mit.edu	37	16	84005763	84005763	+	Missense_Mutation	SNP	G	G	A	rs150219439		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr16:84005763G>A	uc002fhd.2	+	2	226	c.209G>A	c.(208-210)CGC>CAC	p.R70H	NECAB2_uc002fhe.2_5'UTR	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN	neuronal calcium-binding protein 2	70	EF-hand 1.				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			ovary(2)	2						CAGATTTTCCGCCGTGCGGAC	0.592000												
CTNS	1497	broad.mit.edu	37	17	3552213	3552213	+	Silent	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:3552213G>A	uc002fwb.2	+	5	806	c.213G>A	c.(211-213)GAG>GAA	p.E71E	CTNS_uc002fwa.2_Silent_p.E71E|CTNS_uc010ckj.2_Silent_p.E71E|CTNS_uc010vrv.1_Intron|CTNS_uc010vrw.1_Intron	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	71	Lumenal (Potential).		Missing (in CTNSJAN).		ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CTATCCTTGAGCTCCCCGATG	0.418000												
DNAH2	146754	broad.mit.edu	37	17	7735984	7735984	+	Missense_Mutation	SNP	C	C	T	rs145079158		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:7735984C>T	uc002giu.1	+	82	12828	c.12814C>T	c.(12814-12816)CGG>TGG	p.R4272W		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4272					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)				CAGCCGGGCCCGGCCTCCTGT	0.587000												
CYTSB	92521	broad.mit.edu	37	17	20108520	20108520	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:20108520C>T	uc002gwq.2	+	4	1303	c.1158C>T	c.(1156-1158)AGC>AGT	p.S386S	CYTSB_uc010cqx.2_Silent_p.S386S|CYTSB_uc002gwr.2_Silent_p.S386S|CYTSB_uc002gws.2_Silent_p.S386S|CYTSB_uc002gwv.2_Silent_p.S305S|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Silent_p.S162S|CYTSB_uc002gwt.2_Silent_p.S305S|CYTSB_uc002gwu.2_Silent_p.S305S	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	386						nucleus					0						ACCACCATAGCACTGCAGAAG	0.438000												
MPP2	4355	broad.mit.edu	37	17	41955298	41955298	+	Silent	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:41955298G>A	uc010wip.1	-	13	1728	c.1671C>T	c.(1669-1671)TAC>TAT	p.Y557Y	MPP2_uc002ien.1_Silent_p.Y529Y|MPP2_uc010wim.1_Silent_p.Y501Y|MPP2_uc002ieo.1_Silent_p.Y512Y|MPP2_uc010win.1_Silent_p.Y373Y|MPP2_uc010wio.1_Silent_p.Y501Y	NM_005374	NP_005365	Q14168	MPP2_HUMAN	palmitoylated membrane protein 2	536	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGTAGTGCCCGTAGCCCCGCT	0.627000												
ZNF626	199777	broad.mit.edu	37	19	20807836	20807836	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:20807836T>C	uc002npb.1	-	4	997	c.847A>G	c.(847-849)AAA>GAA	p.K283E	ZNF626_uc002npc.1_Missense_Mutation_p.K207E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	zinc finger protein 626 isoform 1	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTGTAGGGTTTCTTTTCCGTA	0.383000												
TBCB	1155	broad.mit.edu	37	19	36616392	36616392	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:36616392G>A	uc002odg.1	+	5	1162	c.587G>A	c.(586-588)CGC>CAC	p.R196H	TBCB_uc002odh.1_Missense_Mutation_p.R177H	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	196	CAP-Gly.				'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATTGGTGTCCGCTATGATGAG	0.473000												
CAPN12	147968	broad.mit.edu	37	19	39228953	39228953	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:39228953G>A	uc002ojd.1	-	8	1234	c.925C>T	c.(925-927)CGC>TGC	p.R309C	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	calpain 12	309	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|pancreas(1)	2	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AGGGCATCGCGGCACTCGGTG	0.657000												
LRRC4B	94030	broad.mit.edu	37	19	51021480	51021480	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:51021480G>A	uc002pss.2	-	3	1627	c.1490C>T	c.(1489-1491)ACG>ATG	p.T497M		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	497	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCCGGGCTGCGTCTCCAGGGT	0.502000												
NLRP12	91662	broad.mit.edu	37	19	54301528	54301528	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:54301528G>T	uc002qch.3	-	8	3116	c.2896C>A	c.(2896-2898)CAA>AAA	p.Q966K	NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Missense_Mutation_p.Q967K|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	966					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)		GCGGGATGTTGCAGCCCCTCA	0.597000												
ZNF446	55663	broad.mit.edu	37	19	58991757	58991757	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr19:58991757C>T	uc002qsz.2	+	7	1134	c.1017C>T	c.(1015-1017)CGC>CGT	p.R339R	ZNF446_uc002qta.2_Missense_Mutation_p.A311V|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	339	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGTGTGGCCGCGGCTTCGACT	0.662000												
SNRNP200	23020	broad.mit.edu	37	2	96944340	96944340	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:96944340C>T	uc002svu.2	-	38	5519	c.5433G>A	c.(5431-5433)GCG>GCA	p.A1811A	SNRNP200_uc002svt.2_Silent_p.A421A|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1811						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						GGTTCAGAGGCGCCACGTCCA	0.567000												
VWA3B	200403	broad.mit.edu	37	2	98853145	98853145	+	Silent	SNP	C	C	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:98853145C>A	uc002syo.2	+	19	2889	c.2625C>A	c.(2623-2625)ACC>ACA	p.T875T	VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Silent_p.T394T|VWA3B_uc002sym.2_Silent_p.T875T|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.T532T|VWA3B_uc002syp.1_Silent_p.T267T|VWA3B_uc002syq.1_Silent_p.T151T|VWA3B_uc002syr.1_Silent_p.T192T|VWA3B_uc010fih.1_RNA	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	875										ovary(3)|large_intestine(2)|skin(1)	6						ACAGCTCCACCTATGTTCCCG	0.493000												
SLC9A4	389015	broad.mit.edu	37	2	103130659	103130659	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:103130659A>G	uc002tbz.3	+	8	2127	c.1670A>G	c.(1669-1671)GAG>GGG	p.E557G		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	557	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						CAAGCCATCGAGATGGTGGAG	0.224000												
TTN	7273	broad.mit.edu	37	2	179417608	179417608	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:179417608C>G	uc010zfg.1	-	284	82539	c.82315G>C	c.(82315-82317)GTT>CTT	p.V27439L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V21134L|TTN_uc010zfi.1_Missense_Mutation_p.V21067L|TTN_uc010zfj.1_Missense_Mutation_p.V20942L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	28366							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)			TCTGCAAGAACTCTGAAGAAG	0.438000												
TTN	7273	broad.mit.edu	37	2	179454471	179454471	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:179454471G>T	uc010zfg.1	-	253	54501	c.54277C>A	c.(54277-54279)CTG>ATG	p.L18093M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L11788M|TTN_uc010zfi.1_Missense_Mutation_p.L11721M|TTN_uc010zfj.1_Missense_Mutation_p.L11596M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19020							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)			TTAATAGCCAGAATGGGAGTT	0.423000												
IGFBP5	3488	broad.mit.edu	37	2	217559462	217559462	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:217559462C>T	uc002vgj.3	-	1	811	c.37G>A	c.(37-39)GCC>ACC	p.A13T		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	13					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding				0		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCATAGGCGGCCAGCAGC	0.677000												
SLC4A3	6508	broad.mit.edu	37	2	220500552	220500552	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:220500552C>T	uc002vmp.3	+	14	2399	c.2130C>T	c.(2128-2130)GCC>GCT	p.A710A	SLC4A3_uc002vmo.3_Silent_p.A737A|SLC4A3_uc010fwm.2_Silent_p.A260A|SLC4A3_uc010fwn.1_Silent_p.A219A	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	710	Helical; (Potential).|Membrane (anion exchange).				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)		AGTGTGTGGCCGCTGTGCTCT	0.652000												
COL4A4	1286	broad.mit.edu	37	2	227953444	227953444	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr2:227953444G>T	uc010zlt.1	-	22	2202	c.1548C>A	c.(1546-1548)GAC>GAA	p.D516E		NM_000092	NP_000083	P53420	CO4A4_HUMAN	alpha 4 type IV collagen precursor	516	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGAGCCCCAAGTCTCCCTTAC	0.597000												
SLC9A8	23315	broad.mit.edu	37	20	48479596	48479596	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr20:48479596T>G	uc002xuv.1	+	9	1054	c.844T>G	c.(844-846)TCT>GCT	p.S282A	SLC9A8_uc010zym.1_Intron|SLC9A8_uc010gic.2_5'Flank|SLC9A8_uc010gid.2_5'Flank|SLC9A8_uc010zyj.1_Missense_Mutation_p.S298A|SLC9A8_uc010zyk.1_3'UTR|SLC9A8_uc010zyl.1_3'UTR|SLC9A8_uc010gib.1_3'UTR	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	sodium/hydrogen exchanger 8	282	Helical; (Potential).					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGGCTTAATTTCTGCATTAAT	0.418000												
KCNG1	3755	broad.mit.edu	37	20	49620778	49620778	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr20:49620778C>G	uc002xwa.3	-	3	1635	c.1340G>C	c.(1339-1341)AGC>ACC	p.S447T		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	447	Helical; Name=Segment S6; (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CAGGATGCCGCTCAGGATGCT	0.622000												
ZNF831	128611	broad.mit.edu	37	20	57766245	57766245	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr20:57766245C>T	uc002yan.2	+	1	171	c.171C>T	c.(169-171)GCC>GCT	p.A57A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	57	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					TCCTGAAGGCCCTGCCCATCC	0.711000												
KCNJ15	3772	broad.mit.edu	37	21	39671579	39671579	+	Silent	SNP	C	C	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr21:39671579C>A	uc002ywv.2	+	4	698	c.396C>A	c.(394-396)GTC>GTA	p.V132V	KCNJ15_uc002yww.2_Silent_p.V132V|KCNJ15_uc002ywx.2_Silent_p.V132V	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	132	Selectivity filter (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						GCTATGGAGTCCGTTCCATCA	0.498000												
UBASH3A	53347	broad.mit.edu	37	21	43857605	43857605	+	Silent	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr21:43857605G>A	uc002zbe.2	+	11	1437	c.1401G>A	c.(1399-1401)GCG>GCA	p.A467A	UBASH3A_uc002zbf.2_Silent_p.A429A|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Silent_p.A429A	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	467	Phosphatase-like.					cytosol|nucleus				ovary(3)	3						CAGGGGACGCGCTACTGGACA	0.488000												
CACNA1I	8911	broad.mit.edu	37	22	40057308	40057308	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr22:40057308G>A	uc003ayc.2	+	16	2894	c.2894G>A	c.(2893-2895)CGC>CAC	p.R965H	CACNA1I_uc003ayd.2_Missense_Mutation_p.R930H|CACNA1I_uc003aye.2_Missense_Mutation_p.R880H|CACNA1I_uc003ayf.2_Missense_Mutation_p.R845H	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	965	Cytoplasmic (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TATGACCAGCGCTCCCTGGTG	0.642000												
CNTN6	27255	broad.mit.edu	37	3	1371510	1371510	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:1371510T>G	uc003boz.2	+	11	1522	c.1255T>G	c.(1255-1257)TCT>GCT	p.S419A	CNTN6_uc011asj.1_Missense_Mutation_p.S347A|CNTN6_uc003bpa.2_Missense_Mutation_p.S419A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	419	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAAAAAAAAGTCTTTTGTTCA	0.383000												
LMCD1	29995	broad.mit.edu	37	3	8590452	8590452	+	Missense_Mutation	SNP	G	G	A	rs150819156		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:8590452G>A	uc003bqq.2	+	4	700	c.586G>A	c.(586-588)GTG>ATG	p.V196M	LMCD1_uc011atd.1_Missense_Mutation_p.V123M|LMCD1_uc011ate.1_Missense_Mutation_p.V84M|LMCD1_uc011atf.1_Missense_Mutation_p.V123M	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	196	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGCCCTCGGCGTGGGAGAAGT	0.577000												
TGFBR2	7048	broad.mit.edu	37	3	30686363	30686363	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:30686363C>T	uc003ceo.2	+	2	601	c.219C>T	c.(217-219)ATC>ATT	p.I73I	TGFBR2_uc003cen.2_Silent_p.I98I	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	73	Extracellular (Potential).		I -> V (in a colorectal cancer sample; somatic mutation).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.I73V(1)		pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						ACTGCAGCATCACCTCCATCT	0.413000												
USP4	7375	broad.mit.edu	37	3	49336032	49336032	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:49336032C>T	uc003cwq.2	-	12	1628	c.1549G>A	c.(1549-1551)GAC>AAC	p.D517N	USP4_uc003cwo.2_Missense_Mutation_p.D229N|USP4_uc003cwp.2_Missense_Mutation_p.D247N|USP4_uc003cwr.2_Missense_Mutation_p.D470N	NM_003363	NP_003354	Q13107	UBP4_HUMAN	ubiquitin specific protease 4 isoform a	517					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|urinary_tract(1)|lung(1)	4		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCGCACAGGTCGGACACAGCC	0.552000												
SMC4	10051	broad.mit.edu	37	3	160143863	160143863	+	Missense_Mutation	SNP	G	G	A	rs143540491		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:160143863G>A	uc003fdh.2	+	17	2593	c.2480G>A	c.(2479-2481)CGT>CAT	p.R827H	IFT80_uc003fda.2_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.R802H|SMC4_uc003fdj.2_Missense_Mutation_p.R827H|SMC4_uc010hwd.2_Missense_Mutation_p.R827H|SMC4_uc003fdl.2_Missense_Mutation_p.R530H	NM_001002800	NP_001002800	Q9NTJ3	SMC4_HUMAN	SMC4 structural maintenance of chromosomes	827	Potential.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			ovary(1)|breast(1)	2			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTTGTAGCGTTTAATAGAG	0.244000												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
SDAD1	55153	broad.mit.edu	37	4	76882453	76882453	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr4:76882453G>A	uc003hje.3	-	15	1309	c.1190C>T	c.(1189-1191)GCT>GTT	p.A397V	SDAD1_uc003hjf.3_Missense_Mutation_p.A300V|SDAD1_uc011cbr.1_Missense_Mutation_p.A360V	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	397					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCCTTTATAGCATTGATTCT	0.363000												
FAT4	79633	broad.mit.edu	37	4	126398337	126398337	+	Silent	SNP	T	T	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr4:126398337T>A	uc003ifj.3	+	13	12321	c.12321T>A	c.(12319-12321)GTT>GTA	p.V4107V	FAT4_uc011cgp.1_Silent_p.V2370V|FAT4_uc003ifi.1_Silent_p.V1585V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4107	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAAATAGAGTTACAGTTGGAG	0.338000												
CDH9	1007	broad.mit.edu	37	5	26915959	26915959	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:26915959A>T	uc003jgs.1	-	3	471	c.302T>A	c.(301-303)TTT>TAT	p.F101Y	CDH9_uc010iug.2_Missense_Mutation_p.F101Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	101	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						ATCTATAACAAATAGACTGCC	0.373000												
PCDHB1	29930	broad.mit.edu	37	5	140431196	140431196	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:140431196C>T	uc003lik.1	+	1	218	c.141C>T	c.(139-141)AAC>AAT	p.N47N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1 precursor	47	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGTGGCCAACGTAGCTAAGG	0.562000												
PCDHGB2	56103	broad.mit.edu	37	5	140739917	140739917	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:140739917A>C	uc003ljs.1	+	1	215	c.215A>C	c.(214-216)AAG>ACG	p.K72T	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_uc011dar.1_Missense_Mutation_p.K72T	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	72	Extracellular (Potential).|Cadherin 1.				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)			AGCGCGGAGAAGGAATATTTC	0.547000												
PCDHGB2	56103	broad.mit.edu	37	5	140741308	140741308	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:140741308G>A	uc003ljs.1	+	1	1606	c.1606G>A	c.(1606-1608)GAC>AAC	p.D536N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.D536N|PCDHGA5_uc011das.1_5'Flank	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	536	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)			GCAGGCCCGCGACCAGGGCTC	0.692000												
CYFIP2	26999	broad.mit.edu	37	5	156734811	156734811	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:156734811A>T	uc003lwq.2	+	11	976	c.838A>T	c.(838-840)AAC>TAC	p.N280Y	CYFIP2_uc011ddn.1_Missense_Mutation_p.N254Y|CYFIP2_uc011ddo.1_Missense_Mutation_p.N84Y|CYFIP2_uc003lwr.2_Missense_Mutation_p.N280Y|CYFIP2_uc003lws.2_Missense_Mutation_p.N280Y|CYFIP2_uc003lwt.2_Missense_Mutation_p.N158Y|CYFIP2_uc011ddp.1_Missense_Mutation_p.N14Y	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	280					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATGTCAGTAACATTTACAA	0.428000												
EBF1	1879	broad.mit.edu	37	5	158267086	158267086	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr5:158267086T>G	uc010jip.2	-	7	889	c.587A>C	c.(586-588)CAA>CCA	p.Q196P	EBF1_uc011ddw.1_Missense_Mutation_p.Q63P|EBF1_uc011ddx.1_Missense_Mutation_p.Q196P|EBF1_uc003lxl.3_Missense_Mutation_p.Q173P	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	196					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGCAATTTTGGTTACATTT	0.403000			T	HMGA2	lipoma							
DSP	1832	broad.mit.edu	37	6	7581033	7581033	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:7581033G>A	uc003mxp.1	+	23	4889	c.4610G>A	c.(4609-4611)CGC>CAC	p.R1537H	DSP_uc003mxq.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	1537	Central fibrous rod domain.|Potential.		R -> C.		cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAACTGACACGCCTGAGGATC	0.498000												
DNAH8	1769	broad.mit.edu	37	6	38890879	38890879	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:38890879G>A	uc003ooe.1	+	70	10657	c.10057G>A	c.(10057-10059)GCC>ACC	p.A3353T	uc003oof.1_RNA	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GATGCAGGCCGCCTCCACTCT	0.448000												
DAAM2	23500	broad.mit.edu	37	6	39841029	39841029	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:39841029A>C	uc003oow.2	+	10	1216	c.1060A>C	c.(1060-1062)AAG>CAG	p.K354Q	DAAM2_uc010jxc.2_Missense_Mutation_p.K354Q|DAAM2_uc003oox.2_Missense_Mutation_p.K354Q	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	354	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CATCGACACCAAGAGTGCTTC	0.557000												
FUT9	10690	broad.mit.edu	37	6	96651497	96651497	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:96651497C>G	uc003pop.3	+	3	807	c.466C>G	c.(466-468)CTG>GTG	p.L156V		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	156	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TAACCTGACTCTGACTTACCG	0.458000												
GRM1	2911	broad.mit.edu	37	6	146755497	146755497	+	Silent	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:146755497G>A	uc010khw.1	+	9	3620	c.3150G>A	c.(3148-3150)GCG>GCA	p.A1050A	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1050	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATTTTCACGCGGTGCTGGCAG	0.667000												
SOD2	6648	broad.mit.edu	37	6	160109172	160109172	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:160109172C>T	uc003qsg.2	-	3	483	c.329G>A	c.(328-330)GGT>GAT	p.G110D	SOD2_uc003qsh.2_Intron|SOD2_uc003qsi.1_Missense_Mutation_p.G110D|SOD2_uc011efu.1_Missense_Mutation_p.G110D|SOD2_uc011efv.1_Intron	NM_001024465	NP_001019636	P04179	SODM_HUMAN	manganese superoxide dismutase isoform A	110					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GGGTTCTCCACCACCGTTAGG	0.423000												
PACRG	135138	broad.mit.edu	37	6	163735873	163735873	+	Missense_Mutation	SNP	G	G	A	rs143276239	by1000genomes	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr6:163735873G>A	uc003qua.2	+	7	969	c.745G>A	c.(745-747)GGC>AGC	p.G249S	PACRG_uc003qub.2_Missense_Mutation_p.G210S|PACRG_uc003quc.2_Missense_Mutation_p.G210S|LOC285796_uc011egh.1_Intron	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	parkin co-regulated gene protein isoform 1	249											0		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTCCGGAGACGGCATTGACTA	0.493000												
STK31	56164	broad.mit.edu	37	7	23749937	23749937	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:23749937C>T	uc003sws.3	+	1	100	c.33C>T	c.(31-33)TCC>TCT	p.S11S	STK31_uc003swt.3_5'UTR|STK31_uc011jze.1_Silent_p.S11S|STK31_uc010kuq.2_5'Flank	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	11							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						CTAGAGCTTCCGCAACGGAAA	0.557000												
ZNF804B	219578	broad.mit.edu	37	7	88964364	88964364	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:88964364G>A	uc011khi.1	+	4	2606	c.2068G>A	c.(2068-2070)GGA>AGA	p.G690R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	690						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)			CAAGGTTTCCGGATGTGGAAA	0.453000										HNSCC(36;0.09)		
REPIN1	29803	broad.mit.edu	37	7	150068855	150068855	+	Silent	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:150068855G>A	uc010lpq.1	+	4	1014	c.525G>A	c.(523-525)CGG>CGA	p.R175R	REPIN1_uc003whd.2_Silent_p.R164R|REPIN1_uc010lpr.1_Silent_p.R232R|REPIN1_uc003whc.2_Silent_p.R175R|REPIN1_uc003whe.2_Silent_p.R175R	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	175					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGAGGCCCGGCCCTTCATAT	0.667000												
MLL3	58508	broad.mit.edu	37	7	151875049	151875049	+	Missense_Mutation	SNP	G	G	A	rs150994342	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr7:151875049G>A	uc003wla.2	-	38	7708	c.7489C>T	c.(7489-7491)CGC>TGC	p.R2497C	MLL3_uc003wkz.2_Missense_Mutation_p.R1558C|MLL3_uc003wky.2_Missense_Mutation_p.R6C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	2497	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACAAGGAAGCGCTCTTGACTC	0.363000			N		medulloblastoma							
CSMD1	64478	broad.mit.edu	37	8	4851918	4851918	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:4851918G>C	uc011kwk.1	-	1	411	c.21C>G	c.(19-21)TTC>TTG	p.F7L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	7						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)		GCAGCGACTGGAATCTCCTCC	0.622000												
DLC1	10395	broad.mit.edu	37	8	13357579	13357579	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:13357579A>G	uc003wwm.2	-	2	446	c.2T>C	c.(1-3)ATG>ACG	p.M1T	DLC1_uc003wwn.2_Missense_Mutation_p.M1T|DLC1_uc011kxy.1_Missense_Mutation_p.M1T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGCTACAGACATGTCATCGTA	0.388000												
KCNU1	157855	broad.mit.edu	37	8	36698093	36698093	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:36698093G>A	uc010lvw.2	+	15	1718	c.1631G>A	c.(1630-1632)CGG>CAG	p.R544Q	KCNU1_uc003xjw.2_RNA	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	544	Segment S8.|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)		GAAGTTGCCCGGTAAGTGAAG	0.299000												
SNTG1	54212	broad.mit.edu	37	8	51617262	51617262	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:51617262T>G	uc010lxy.1	+	17	1512	c.1141T>G	c.(1141-1143)TGG>GGG	p.W381G	SNTG1_uc003xqs.1_Missense_Mutation_p.W381G|SNTG1_uc010lxz.1_Missense_Mutation_p.W381G|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	381	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCTCGCCCAGTGGGAAAGAGC	0.557000												
OSR2	116039	broad.mit.edu	37	8	99961494	99961494	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:99961494T>A	uc003yir.2	+	2	849	c.314T>A	c.(313-315)GTC>GAC	p.V105D	OSR2_uc010mbn.2_Missense_Mutation_p.V105D|OSR2_uc003yiq.2_Missense_Mutation_p.V105D|OSR2_uc011lgx.1_Missense_Mutation_p.V226D	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	odd-skipped related 2 isoform a	105					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)			ATTGCCCACGTCCTCCCAGCC	0.652000												
KCNQ3	3786	broad.mit.edu	37	8	133150173	133150173	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:133150173C>T	uc003ytj.2	-	12	1884	c.1659G>A	c.(1657-1659)GGG>GGA	p.G553G	KCNQ3_uc010mdt.2_Silent_p.G553G	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	553					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)			TGTCGAGATGCCCGGCAGAAT	0.463000												
CNTLN	54875	broad.mit.edu	37	9	17135365	17135365	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:17135365G>A	uc003zmz.2	+	1	328	c.302G>A	c.(301-303)CGG>CAG	p.R101Q	CNTLN_uc003zmx.3_Missense_Mutation_p.R101Q|CNTLN_uc003zmy.2_Missense_Mutation_p.R101Q|CNTLN_uc003zmw.1_Missense_Mutation_p.R101Q	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	101	Potential.					centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGGTGACCCGGACGCAGCTG	0.667000												
CNTFR	1271	broad.mit.edu	37	9	34552722	34552722	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:34552722G>A	uc003zup.1	-	8	1180	c.899C>T	c.(898-900)ACG>ATG	p.T300M	CNTFR_uc003zuq.1_Missense_Mutation_p.T300M	NM_147164	NP_671693	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	300	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			ovary(3)|central_nervous_system(1)|skin(1)	5	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGTCCAGGGCGTAGCGTGGGC	0.627000												
C9orf79	286234	broad.mit.edu	37	9	90501251	90501251	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:90501251G>A	uc004app.3	+	4	1884	c.1849G>A	c.(1849-1851)GGG>AGG	p.G617R	C9orf79_uc004apo.1_Missense_Mutation_p.G429R	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	617						integral to membrane				ovary(3)	3						CATCCTTCCCGGGGTTGTCAC	0.627000												
C9orf3	84909	broad.mit.edu	37	9	97563249	97563249	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:97563249C>T	uc004ava.2	+	4	1464	c.1329C>T	c.(1327-1329)ATC>ATT	p.I443I	C9orf3_uc004aux.1_Silent_p.I443I|C9orf3_uc004auy.2_Silent_p.I443I|C9orf3_uc004auz.1_Silent_p.I443I	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	443					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATGTTCTCATCGTCCCTGCCA	0.522000												
MUSK	4593	broad.mit.edu	37	9	113538210	113538210	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:113538210G>A	uc004bey.2	+	9	1425	c.1327G>A	c.(1327-1329)GAC>AAC	p.D443N	MUSK_uc004bez.1_Missense_Mutation_p.D31N	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	443	FZ.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						CATGCATTGGGACCCCACGGC	0.488000												
RNF183	138065	broad.mit.edu	37	9	116060314	116060314	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:116060314G>A	uc004bgz.2	-	2	269	c.151C>T	c.(151-153)CGG>TGG	p.R51W	RNF183_uc004bha.2_Missense_Mutation_p.R51W	NM_145051	NP_659488	Q96D59	RN183_HUMAN	ring finger protein 183	51	RING-type.					integral to membrane	zinc ion binding				0						AGGCGGCGCCGGGCTGGAGTC	0.627000												
TTC16	158248	broad.mit.edu	37	9	130479638	130479638	+	Missense_Mutation	SNP	G	G	C	rs139753825	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr9:130479638G>C	uc004brq.1	+	3	284	c.217G>C	c.(217-219)GAG>CAG	p.E73Q	PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_5'Flank|PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Missense_Mutation_p.E73Q|TTC16_uc004brr.1_Missense_Mutation_p.E66Q|TTC16_uc010mxn.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	73	TPR 1.						binding				0						GCAGTGCTTGGAGCAGGCAGA	0.662000												
DMD	1756	broad.mit.edu	37	X	32360399	32360399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:32360399C>A	uc004dda.1	-	41	5984	c.5740G>T	c.(5740-5742)GAA>TAA	p.E1914*	DMD_uc004dcw.2_Nonsense_Mutation_p.E570*|DMD_uc004dcx.2_Nonsense_Mutation_p.E573*|DMD_uc004dcz.2_Nonsense_Mutation_p.E1791*|DMD_uc004dcy.1_Nonsense_Mutation_p.E1910*|DMD_uc004ddb.1_Nonsense_Mutation_p.E1906*|DMD_uc010ngo.1_Intron	NM_004006	NP_003997	P11532	DMD_HUMAN	dystrophin Dp427m isoform	1914	Spectrin 13.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(3)|pancreas(2)|large_intestine(1)	6		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGATCAATTTCCTATTGAGCA	0.493000												
BMP15	9210	broad.mit.edu	37	X	50659159	50659159	+	Missense_Mutation	SNP	G	G	A	rs145017754	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:50659159G>A	uc011mnw.1	+	2	731	c.731G>A	c.(730-732)CGG>CAG	p.R244Q		NM_005448	NP_005439	O95972	BMP15_HUMAN	bone morphogenetic protein 15 precursor	244					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			ovary(2)	2	Ovarian(276;0.236)					AAAAGCATTCGGAAGGCTAAA	0.458000												
RPS6KA6	27330	broad.mit.edu	37	X	83411138	83411138	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:83411138G>T	uc004eej.1	-	3	280	c.203C>A	c.(202-204)GCA>GAA	p.A68E	RPS6KA6_uc011mqt.1_Missense_Mutation_p.A68E|RPS6KA6_uc011mqu.1_5'UTR|RPS6KA6_uc010nmo.1_RNA	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	68					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TGCAGGATCTGCTTTCTCATA	0.358000												
PNMA5	114824	broad.mit.edu	37	X	152159384	152159384	+	Silent	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:152159384C>T	uc010ntw.2	-	3	1098	c.759G>A	c.(757-759)CCG>CCA	p.P253P	PNMA5_uc004fha.3_Silent_p.P253P|PNMA5_uc010ntx.2_Silent_p.P253P|PNMA5_uc004fgy.3_Silent_p.P253P	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	253					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAATCTTCGGAGAGGTCT	0.522000												
TREX2	11219	broad.mit.edu	37	X	152713230	152713230	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chrX:152713230C>T	uc010nue.1	-	1	138	c.22G>A	c.(22-24)GTT>ATT	p.V8I	TREX2_uc010nud.1_5'Flank|TREX2_uc011myp.1_5'Flank|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_3'UTR|HAUS7_uc004fho.1_3'UTR|HAUS7_uc004fhp.1_RNA	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	Error:Variant_position_missing_in_Q9BQ50_after_alignment					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			large_intestine(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCTGCAACGGCTTCTGCT	0.587000								Editing_and_processing_nucleases				
ARID1A	8289	broad.mit.edu	37	1	27102187	27102200	+	Splice_Site	DEL	AACCTCAGTCAGGT	AACCTCAGTCAGGT	-	rs61756316	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:27102186_27102199CAACCTCAGTCAGGT>C	uc001bmv.1	+	19	5497	c.5124_splice	c.e19+1	p.Q1708_splice	ARID1A_uc001bmt.1_3'UTR|ARID1A_uc001bmu.1_Splice_Site_p.Q1491_splice|ARID1A_uc001bmx.1_Splice_Site_p.Q554_splice|ARID1A_uc009vsm.1_Splice_Site_p.Q36_splice|ARID1A_uc009vsn.1_Splice_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1708					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q1708*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCATGACCTTCAACCTCAGTCAGGTGAGTATCAG	0.472			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
JMJD1C	221037	broad.mit.edu	37	10	64974716	64974717	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr10:64974716_64974717insA	uc001jmn.2	-	8	1510_1511	c.1210_1211insT	c.(1210-1212)AAAfs	p.K404fs	JMJD1C_uc001jml.2_Frame_Shift_Ins_p.K185fs|JMJD1C_uc001jmm.2_Frame_Shift_Ins_p.K116fs|JMJD1C_uc010qiq.1_Frame_Shift_Ins_p.K222fs|JMJD1C_uc009xpi.2_Frame_Shift_Ins_p.K222fs|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Frame_Shift_Ins_p.K116fs	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	404					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAAGTATTTTTATTTTTCAAT	0.347												
TMEM100	55273	broad.mit.edu	37	17	53798136	53798136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr17:53798136delA	uc002iuj.3	-	2	607	c.296delT	c.(295-297)TTAfs	p.L99fs	TMEM100_uc002iuk.3_Frame_Shift_Del_p.L99fs	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	transmembrane protein 100	99	Helical; (Potential).					integral to membrane					0						GGAGGCTAGTAAAAAAAGTCC	0.502												
ARID1A	8289	broad.mit.edu	37	1	27102187	27102200	+	Splice_Site	DEL	AACCTCAGTCAGGT	AACCTCAGTCAGGT	-	rs61756316	byFrequency	TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr1:27102186_27102199CAACCTCAGTCAGGT>C	uc001bmv.1	+	19	5497	c.5124_splice	c.e19+1	p.Q1708_splice	ARID1A_uc001bmt.1_3'UTR|ARID1A_uc001bmu.1_Splice_Site_p.Q1491_splice|ARID1A_uc001bmx.1_Splice_Site_p.Q554_splice|ARID1A_uc009vsm.1_Splice_Site_p.Q36_splice|ARID1A_uc009vsn.1_Splice_Site	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1708					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q1708*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCATGACCTTCAACCTCAGTCAGGTGAGTATCAG	0.472			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
EPB49	2039	broad.mit.edu	37	8	21938951	21938953	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr8:21938950_21938952CAAG>C	uc022asw.1	+	14	1232_1234	c.1194_1196CAAG>C	c.(1192-1197)ctcaag>ctCg	p.K401del	EPB49_uc022asq.1_3'UTR|EPB49_uc022asr.1_3'UTR|EPB49_uc022ass.1_3'UTR|EPB49_uc022ast.1_3'UTR|EPB49_uc022asu.1_3'UTR|EPB49_uc022asv.1_3'UTR|EPB49_uc022asx.1_In_Frame_Del_p.K379del|EPB49_uc022asy.1_In_Frame_Del_p.K354del	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	401	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GGAATGAGCTCAAGAAGAAGGCC	0.606												
TRIOBP	11078	broad.mit.edu	37	22	38121801	38121801	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FP-7916-01A-11D-2201-08	TCGA-FP-7916-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08fbbee6-0780-4d19-bbab-346dda361e08	da15d7f0-0838-4ba6-9348-badfdf50a5f8	g.chr22:38121800_38121800CA>C	uc003atr.3	+	6	3508	c.3237_3237CA>C	c.(3235-3237)cacfs	p.H1079fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.H907fs|TRIOBP_uc003atq.1_Frame_Shift_Del_p.H1079fs|TRIOBP_uc003ats.1_Frame_Shift_Del_p.H907fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1079					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCCCCGCCACACCCAATTTG	0.637												
