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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_by_all_platform	validation_method	validation_tumor_sample
NOL9	79707	broad.mit.edu	37	1	6585956	6585956	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:6585956C>T	uc001ans.2	-	12	2086	c.2067G>A	c.(2065-2067)GAG>GAA	p.E689E	NOL9_uc010nzs.1_RNA	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	689					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			skin(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGTATGGTTTCTCTTTATGTG	0.413		NaN											0	0	0	0.006214	0	8	81				
DMRTB1	63948	broad.mit.edu	37	1	53927213	53927213	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:53927213C>A	uc001cvq.1	+	2	700	c.645C>A	c.(643-645)CAC>CAA	p.H215Q		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	215	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CCAGCATGCACCCCTACTGCC	0.647		NaN											1	0	1.15088e-07	0.028581	1.29369e-07	16	146				
ACOT11	26027	broad.mit.edu	37	1	55060253	55060253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:55060253C>T	uc001cxm.1	+	6	578	c.496C>T	c.(496-498)CGG>TGG	p.R166W	ACOT11_uc001cxj.1_Missense_Mutation_p.R44W|ACOT11_uc001cxk.2_Missense_Mutation_p.R132W|ACOT11_uc001cxl.1_Missense_Mutation_p.R166W	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	thioesterase, adipose associated isoform BFIT1	166					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			central_nervous_system(1)	1						GATCACGCCGCGGACAGAAGA	0.627		NaN											0	0	0	0.014758	0	4	44				
TRIM46	80128	broad.mit.edu	37	1	155154564	155154564	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:155154564G>A	uc001fhs.1	+	9	1908	c.1825G>A	c.(1825-1827)GTC>ATC	p.V609I	RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.V483I|TRIM46_uc001fhu.1_Missense_Mutation_p.V586I|TRIM46_uc009wpg.1_Missense_Mutation_p.V596I|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	609	B30.2/SPRY.					intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAAGGTGGGCGTCGGGCTGGA	0.647		NaN											0	0	0	0.020292	0	14	37				
NR1I3	9970	broad.mit.edu	37	1	161200969	161200969	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:161200969C>T	uc001fzx.2	-	7	964	c.761G>A	c.(760-762)CGA>CAA	p.R254Q	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzg.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzh.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzi.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzj.2_Missense_Mutation_p.R221Q|NR1I3_uc001fzk.2_Intron|NR1I3_uc001fzl.2_Intron|NR1I3_uc001fzm.2_Missense_Mutation_p.R175Q|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzp.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzo.2_Missense_Mutation_p.R83Q|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Missense_Mutation_p.R254Q|NR1I3_uc001fzy.2_Missense_Mutation_p.R250Q|NR1I3_uc001fzz.2_Intron|NR1I3_uc001gaa.2_Intron|NR1I3_uc001gab.2_Intron|NR1I3_uc001gac.2_Missense_Mutation_p.R225Q|NR1I3_uc010pkm.1_Missense_Mutation_p.R221Q|NR1I3_uc010pkn.1_3'UTR	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2	254					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGCAGTTTTCGTAGTGTTCC	0.532		NaN											0	0	0	0.006122	0	17	29				
BAT2L2	23215	broad.mit.edu	37	1	171484973	171484973	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:171484973A>G	uc010pmg.1	+	5	761	c.495A>G	c.(493-495)GGA>GGG	p.G165G	BAT2L2_uc001ghq.1_Silent_p.G162G|BAT2L2_uc001ghr.1_Silent_p.G167G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	165							protein C-terminus binding				0						ACAACTATGGACCTGGACCCA	0.398		NaN											0	0	0	0.006214	0	8	42				
HMCN1	83872	broad.mit.edu	37	1	185953314	185953314	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:185953314C>T	uc001grq.1	+	19	3033	c.2804C>T	c.(2803-2805)CCT>CTT	p.P935L	HMCN1_uc001grr.1_Missense_Mutation_p.P276L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	935	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						CTCCAAAATCCTTACATCACT	0.383		NaN											0	0	0	0.006214	0	10	49				
GPR37L1	9283	broad.mit.edu	37	1	202097242	202097242	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:202097242T>G	uc001gxj.2	+	2	1067	c.1004T>G	c.(1003-1005)GTG>GGG	p.V335G		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	335	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						ACATGGCGGGTGCGAGGCCCT	0.617		NaN											0	0	0	0.016522	0	7	70				
KCNH1	3756	broad.mit.edu	37	1	210856624	210856624	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:210856624C>T	uc001hib.2	-	11	3139	c.2969G>A	c.(2968-2970)TGA>TAA	p.*990*	KCNH1_uc001hic.2_Silent_p.*963*	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	990					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ATAGACCTCTCAGCTGGCTCC	0.443		NaN											0	0	0	0.010729	0	10	177				
FAM71A	149647	broad.mit.edu	37	1	212798487	212798487	+	Nonsense_Mutation	SNP	C	C	T	rs141642686	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:212798487C>T	uc001hjk.2	+	1	672	c.268C>T	c.(268-270)CGA>TGA	p.R90*	uc010pth.1_Intron	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	90										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GCTACTGGCACGACCGGCCAC	0.567		NaN											0	0	0	0.00308	0	8	72				
HHIPL2	79802	broad.mit.edu	37	1	222713516	222713516	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:222713516C>T	uc001hnh.1	-	4	1344	c.1286G>A	c.(1285-1287)GGG>GAG	p.G429E		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	429					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		GATGGGGTCCCCTCGGTCCAC	0.577		NaN											0	0	0	0.02938	0	7	94				
RYR2	6262	broad.mit.edu	37	1	237787085	237787085	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:237787085T>G	uc001hyl.1	+	39	6057	c.5937T>G	c.(5935-5937)TTT>TTG	p.F1979L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1979	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTCAATTTTAAGGATGACA	0.348		NaN											0	0	0	0.004672	0	3	26				
ADARB2	105	broad.mit.edu	37	10	1230959	1230959	+	Missense_Mutation	SNP	G	G	A	rs141253548	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:1230959G>A	uc009xhq.2	-	9	2259	c.1885C>T	c.(1885-1887)CGC>TGC	p.R629C	ADARB2_uc009xhp.2_Missense_Mutation_p.R13C|ADARB2_uc001igl.3_5'UTR|ADARB2_uc001igm.3_Missense_Mutation_p.R138C	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	629	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCCGGCTGGCGCGCCTCGGCG	0.672		NaN											0	0	0	0.008291	0	10	80				
DOCK1	1793	broad.mit.edu	37	10	128798484	128798484	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:128798484C>G	uc001ljt.2	+	10	962	c.898C>G	c.(898-900)CAG>GAG	p.Q300E	DOCK1_uc010qun.1_Missense_Mutation_p.Q300E	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	300					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTTGTCTGTCAGATTGTTCG	0.448		NaN											0	0	0	0.014758	0	4	39				
SAA2	6289	broad.mit.edu	37	11	18267001	18267001	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:18267001G>C	uc001mnz.3	-	4	329	c.292C>G	c.(292-294)CAG>GAG	p.Q98E	SAA2_uc009yhj.2_Intron	NM_030754	NP_110381	P02735	SAA_HUMAN	serum amyloid A2 isoform a	98				ADQAAN -> SEATVK (in Ref. 11; AA sequence).	acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding				0					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TTGGCAGCCTGATCGGCCAGC	0.552		NaN											0	0	0	0.006214	0	9	111				
FAT3	120114	broad.mit.edu	37	11	92495148	92495148	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92495148C>T	uc001pdj.3	+	4	3813	c.3796C>T	c.(3796-3798)CGT>TGT	p.R1266C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1266	Cadherin 12.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGCCAGAACGTGACCGAAA	0.473		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.016723	0	12	117				
FAT3	120114	broad.mit.edu	37	11	92532073	92532073	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:92532073C>T	uc001pdj.3	+	9	5911	c.5894C>T	c.(5893-5895)ACC>ATC	p.T1965I		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1965	Cadherin 17.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCTACAGTACCTCCATGGTC	0.418		NaN								TCGA Ovarian(4;0.039)			0	0	0	0.013726	0	35	56				
CNTN5	53942	broad.mit.edu	37	11	100211904	100211904	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:100211904A>G	uc001pga.2	+	23	3336	c.2997A>G	c.(2995-2997)CCA>CCG	p.P999P	CNTN5_uc001pgb.2_Silent_p.P925P|CNTN5_uc010ruk.1_Silent_p.P270P	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	999	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCGTCATACCATTAGCCAACG	0.433		NaN											0	0	0	0.024334	0	25	94				
PVRL1	5818	broad.mit.edu	37	11	119547811	119547811	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:119547811C>T	uc001pwv.2	-	4	1023	c.851_splice	c.e4+1	p.T284_splice	PVRL1_uc001pwu.1_Splice_Site_p.T284_splice|PVRL1_uc001pww.2_Splice_Site_p.T284_splice	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1						adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCAGCACTTACGTGGTCCAGT	0.577		NaN											0	0	0	0.020292	0	13	63				
SLC2A14	144195	broad.mit.edu	37	12	7970478	7970478	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:7970478G>A	uc001qtk.2	-	15	2086	c.1293C>T	c.(1291-1293)TGC>TGT	p.C431C	SLC2A14_uc001qtl.2_Silent_p.C408C|SLC2A14_uc001qtm.2_Silent_p.C408C|SLC2A14_uc010sgg.1_Silent_p.C322C|SLC2A14_uc001qtn.2_Silent_p.C431C|SLC2A14_uc001qto.2_Silent_p.C66C|SLC2A14_uc010sgh.1_Silent_p.C446C	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	431	Helical; Name=11; (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)		TCCAGTTGGAGCAGCCGGCCA	0.483		NaN											0	0	0	0.0333	0	14	146				
ADCY6	112	broad.mit.edu	37	12	49176704	49176704	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:49176704C>T	uc001rsh.3	-	1	1174	c.514G>A	c.(514-516)GCA>ACA	p.A172T	ADCY6_uc001rsj.3_Missense_Mutation_p.A172T|ADCY6_uc001rsi.3_Missense_Mutation_p.A172T	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	172					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CGGGCGGGTGCGGCGTGGAAA	0.647		NaN											0	0	0	0.00308	0	7	100				
DIP2B	57609	broad.mit.edu	37	12	51034594	51034594	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:51034594G>A	uc001rwv.2	+	3	416	c.260G>A	c.(259-261)CGA>CAA	p.R87Q	DIP2B_uc001rwu.2_Missense_Mutation_p.R87Q|DIP2B_uc009zls.1_5'UTR	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B	87						nucleus	catalytic activity|transcription factor binding			ovary(4)|breast(1)|pancreas(1)	6						AAGTACCACCGAACTCGATCT	0.468		NaN											0	0	0	0.028581	0	15	28				
PLXNC1	10154	broad.mit.edu	37	12	94648979	94648979	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:94648979G>A	uc001tdc.2	+	17	3243	c.2994G>A	c.(2992-2994)GAG>GAA	p.E998E	PLXNC1_uc010sut.1_Silent_p.E45E	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	998	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GCTTTGCTGAGCTGCAGATGG	0.393		NaN											0	0	0	0.006214	0	8	30				
NCOR2	9612	broad.mit.edu	37	12	124824693	124824693	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:124824693G>A	uc010tay.1	-	39	5732	c.5576C>T	c.(5575-5577)GCC>GTC	p.A1859V	NCOR2_uc010taz.1_Missense_Mutation_p.A1843V|NCOR2_uc010tax.1_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 1	1860					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGTGGGAGGCGGGgcggct	0.493		NaN											0	0	0	0.016522	0	25	45		Valid		
TMEM132D	121256	broad.mit.edu	37	12	130185155	130185155	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr12:130185155C>T	uc009zyl.1	-	2	496	c.168G>A	c.(166-168)GCG>GCA	p.A56A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	56	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGAGACGTCCGCGTTGTTGA	0.562		NaN											0	0	0	0.006214	0	10	36				
FNDC3A	22862	broad.mit.edu	37	13	49777357	49777357	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:49777357G>T	uc001vcm.2	+	25	3524	c.3219G>T	c.(3217-3219)ATG>ATT	p.M1073I	FNDC3A_uc001vcn.2_Missense_Mutation_p.M1073I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.M1017I	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1073	Fibronectin type-III 9.					Golgi membrane|integral to membrane				lung(2)	2		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAGCCAATGAAAGGTGATC	0.328		NaN											1	0	9.16793e-09	0.0333	1.03813e-08	15	27				
GPC5	2262	broad.mit.edu	37	13	92345539	92345539	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:92345539C>A	uc010tif.1	+	3	790	c.424C>A	c.(424-426)CAG>AAG	p.Q142K		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	142						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGCTTCGGTTCAGGAGTTCTT	0.408		NaN											1	0	2.27111e-07	0.013537	2.53443e-07	11	80				
TUBGCP3	10426	broad.mit.edu	37	13	113181716	113181716	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr13:113181716G>A	uc001vse.1	-	12	1605	c.1418C>T	c.(1417-1419)TCG>TTG	p.S473L	TUBGCP3_uc010tjq.1_Missense_Mutation_p.S463L|TUBGCP3_uc001vsf.2_Missense_Mutation_p.S473L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	473					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CGTCATAAACGAAGGAATCAT	0.368		NaN											0	0	0	0.021553	0	6	78				
AKAP6	9472	broad.mit.edu	37	14	33015022	33015022	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:33015022C>T	uc001wrq.2	+	4	1333	c.1163C>T	c.(1162-1164)ACA>ATA	p.T388I	AKAP6_uc010aml.2_Missense_Mutation_p.T385I	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	388					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACGCAGCCTACATTGCCAAAA	0.418		NaN											0	0	0	0.004482	0	9	47				
INSM2	84684	broad.mit.edu	37	14	36004658	36004658	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:36004658C>A	uc001wth.1	+	1	1411	c.1200C>A	c.(1198-1200)GGC>GGA	p.G400G		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		TGCCTCAGGGCCCCTACACGG	0.682		NaN											1	0	1.6384e-10	0.02938	1.88294e-10	7	70				
GPR65	8477	broad.mit.edu	37	14	88477734	88477734	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:88477734C>G	uc001xvv.2	+	2	1073	c.543C>G	c.(541-543)ATC>ATG	p.I181M		NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	181	Helical; Name=5; (Potential).				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity				0						AATGGCAAATCAACCTCAACT	0.413		NaN											0	0	0	0.021553	0	5	92				
CHAC1	79094	broad.mit.edu	37	15	41247690	41247690	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:41247690T>C	uc001znh.2	+	3	533	c.513T>C	c.(511-513)TAT>TAC	p.Y171Y	CHAC1_uc010uct.1_Intron	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator-like 1 isoform	171					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding				0		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TCACCTTCTATCCCCAAGATG	0.572		NaN											0	0	0	0.030593	0	27	215				
PLDN	26258	broad.mit.edu	37	15	45898644	45898644	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:45898644G>A	uc001zvq.2	+	5	676	c.451G>A	c.(451-453)GAG>AAG	p.E151K	PLDN_uc001zvr.2_RNA|PLDN_uc001zvs.2_RNA	NM_012388	NP_036520	Q9UL45	PLDN_HUMAN	pallidin	151	Potential.				post-Golgi vesicle-mediated transport|synaptic vesicle docking involved in exocytosis	BLOC-1 complex|endomembrane system|membrane	identical protein binding|syntaxin-13 binding			skin(1)	1		Lung NSC(122;1.6e-06)|all_lung(180;1.13e-05)|Melanoma(134;0.027)		all cancers(107;6.58e-18)|GBM - Glioblastoma multiforme(94;5.91e-07)		GTTGGAAAGGGAGCAGCAACG	0.398		NaN											0	0	0	0.004482	0	8	57				
CSNK1G1	53944	broad.mit.edu	37	15	64508801	64508801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:64508801G>A	uc002anf.2	-	5	884	c.404C>T	c.(403-405)ACA>ATA	p.T135I	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anh.1_Missense_Mutation_p.T135I|CSNK1G1_uc002anj.2_Missense_Mutation_p.T108I	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	135	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						CAAAGTAAATGTTCGGTCACA	0.468		NaN											0	0	0	0.01892	0	21	25				
IGDCC3	9543	broad.mit.edu	37	15	65625614	65625614	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:65625614C>T	uc002aos.2	-	6	1215	c.963G>A	c.(961-963)CAG>CAA	p.Q321Q		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	putative neuronal cell adhesion molecule	321	Extracellular (Potential).|Ig-like C2-type 3.									ovary(3)	3						CCAGCCGGCCCTGTGCCGTTC	0.642		NaN											0	0	0	0.004482	0	8	84				
LRRC49	54839	broad.mit.edu	37	15	71302263	71302263	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr15:71302263A>G	uc002asw.2	+	13	1772	c.1525A>G	c.(1525-1527)ACA>GCA	p.T509A	LRRC49_uc002asu.2_Missense_Mutation_p.T499A|LRRC49_uc002asx.2_Missense_Mutation_p.T465A|LRRC49_uc010ukf.1_Missense_Mutation_p.T514A|LRRC49_uc002asy.2_Missense_Mutation_p.T215A|LRRC49_uc002asz.2_Missense_Mutation_p.T481A	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	509						cytoplasm|microtubule				ovary(1)	1						TGTCAATTTTACACTCTGGAA	0.363		NaN											0	0	0	0.02938	0	6	35				
RHBDF1	64285	broad.mit.edu	37	16	113739	113739	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:113739C>T	uc002cfl.3	-	7	456	c.308G>A	c.(307-309)CGC>CAC	p.R103H	RHBDF1_uc010uty.1_Missense_Mutation_p.R126H|RHBDF1_uc010utz.1_Missense_Mutation_p.R103H|RHBDF1_uc010bqo.1_RNA	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	103	Cytoplasmic (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GATGCTCTTGCGCTGCCATTT	0.657		NaN											0	0	0	0.004482	0	7	51				
GRIN2A	2903	broad.mit.edu	37	16	9916174	9916174	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:9916174C>G	uc002czo.3	-	10	2663	c.2115G>C	c.(2113-2115)ATG>ATC	p.M705I	GRIN2A_uc010uym.1_Missense_Mutation_p.M705I|GRIN2A_uc010uyn.1_Missense_Mutation_p.M548I|GRIN2A_uc002czr.3_Missense_Mutation_p.M705I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	705	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAAATTTGGTCATGTACTGAT	0.468		NaN											0	0	0	0.006214	0	9	74				
SNX29	92017	broad.mit.edu	37	16	12223537	12223537	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:12223537G>A	uc002dby.3	+	6	418	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	SNX29_uc010uyx.1_Missense_Mutation_p.R148Q	NM_001080530	NP_001073999	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	121	Potential.				cell communication		phosphatidylinositol binding			ovary(1)	1						GCCGCGCTCCGGCAAGAGGTG	0.607		NaN											0	0	0	0.00308	0	7	20				
SRCAP	10847	broad.mit.edu	37	16	30718977	30718977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30718977C>T	uc002dze.1	+	6	962	c.577C>T	c.(577-579)CGA>TGA	p.R193*	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Nonsense_Mutation_p.R50*|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	193	HSA.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CAAGCTGCGTCGAATTGCTTC	0.572		NaN											0	0	0	0.028581	0	15	57		Valid		
SRCAP	10847	broad.mit.edu	37	16	30720939	30720939	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30720939C>T	uc002dze.1	+	7	1124	c.739C>T	c.(739-741)CTG>TTG	p.L247L	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.L104L|SRCAP_uc010bzz.1_5'Flank|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	247					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CTCGGACCTTCTGTCTCAGAG	0.547		NaN											0	0	0	0.012213	0	32	92				
RNF40	9810	broad.mit.edu	37	16	30774850	30774850	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:30774850C>G	uc002dzq.2	+	4	535	c.412C>G	c.(412-414)CTC>GTC	p.L138V	C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.L138V|RNF40_uc010cab.2_Missense_Mutation_p.L138V|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L138V|RNF40_uc010vfb.1_Intron	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	138					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)			TGGGACTCCTCTCCCAGAGCC	0.617		NaN											0	0	0	0.006122	0	19	46				
CKLF	51192	broad.mit.edu	37	16	66592158	66592158	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:66592158C>T	uc002eow.2	+	2	291	c.144C>T	c.(142-144)ATC>ATT	p.I48I	CKLF_uc002eox.1_Silent_p.I48I|CKLF_uc002eot.2_Silent_p.I48I|CKLF_uc002eou.2_Intron|CKLF_uc002eov.2_Intron	NM_016951	NP_058647	Q9UBR5	CKLF_HUMAN	chemokine-like factor isoform a	48	Helical; (Potential).|MARVEL.				cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		ATATTGTTATCACTGGATTTG	0.353		NaN											0	0	0	0.008291	0	10	51				
TMED6	146456	broad.mit.edu	37	16	69385672	69385672	+	Translation_Start_Site	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:69385672C>A	uc002exc.1	-	1	18	c.-15G>T	c.(-17--13)GAGGC>GATGC			NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain						transport	endoplasmic reticulum membrane|integral to membrane				ovary(1)	1						TTTCTGGAGCCTCCTCTGCAG	0.537		NaN											1	0	0.00448238	0.004482	0.00479366	8	32				
C16orf7	9605	broad.mit.edu	37	16	89774351	89774351	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr16:89774351C>T	uc002fom.1	-	15	1939	c.1814G>A	c.(1813-1815)GGA>GAA	p.G605E	C16orf7_uc002fol.1_Missense_Mutation_p.G535E	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	605	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCCTCCTCTCCGATCAGGTA	0.622		NaN											0	0	0	0.024245	0	11	77				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.01441	0	54	34		Valid		
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:7917216G>A	uc002gjt.2	+	12	2356	c.2282G>A	c.(2281-2283)CGG>CAG	p.R761Q		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622		NaN											0	0	0	0.024245	0	15	148				
RAPGEFL1	51195	broad.mit.edu	37	17	38347663	38347663	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:38347663C>T	uc010cwu.1	+	9	1303	c.813C>T	c.(811-813)CAC>CAT	p.H271H	RAPGEFL1_uc010wfd.1_Silent_p.H207H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor	477	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AGGTCACGCACTGGGTGGCCA	0.682		NaN											0	0	0	0.020292	0	12	22				
KRTAP4-11	653240	broad.mit.edu	37	17	39274427	39274427	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:39274427G>A	uc002hvz.2	-	1	180	c.141C>T	c.(139-141)TCC>TCT	p.S47S		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	47	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		Missing (in allele KAP4.14).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGCAGCAGCTGGACACACAGC	0.677		NaN											0	0	0	0.0333	0	14	194				
DTNA	1837	broad.mit.edu	37	18	32418763	32418763	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:32418763C>T	uc010dmn.1	+	12	1228	c.1227C>T	c.(1225-1227)ATC>ATT	p.I409I	DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Silent_p.I406I|DTNA_uc010dmm.2_Silent_p.I409I|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Silent_p.I118I|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	409	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						ATGTTCTCATCGGGTTGTATG	0.502		NaN											0	0	0	0.021553	0	6	83				
SMAD7	4092	broad.mit.edu	37	18	46448082	46448082	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:46448082C>T	uc002ldg.2	-	4	1228	c.941G>A	c.(940-942)CGG>CAG	p.R314Q	SMAD7_uc002ldf.2_Missense_Mutation_p.R126Q|SMAD7_uc010xde.1_Missense_Mutation_p.R99Q	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	314	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					GATTTTGCTCCGCACCTTCTG	0.557		NaN											0	0	0	0.012319	0	21	60				
CXXC1	30827	broad.mit.edu	37	18	47812525	47812525	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:47812525C>T	uc002leq.3	-	4	1059	c.326G>A	c.(325-327)CGC>CAC	p.R109H	CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.R109H|CXXC1_uc010doy.2_Missense_Mutation_p.R109H|CXXC1_uc002les.2_Missense_Mutation_p.R109H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	109					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGGCCTCTTGCGCCCTCCACC	0.642		NaN											0	0	0	0.01441	0	56	126				
DOK6	220164	broad.mit.edu	37	18	67365704	67365704	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr18:67365704G>A	uc002lkl.2	+	5	664	c.474G>A	c.(472-474)CAG>CAA	p.Q158Q		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	158	IRS-type PTB.						insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCACAATGCAGATCACTCATG	0.438		NaN											0	0	0	0.006122	0	17	46				
SMARCA4	6597	broad.mit.edu	37	19	11141426	11141426	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:11141426C>T	uc002mqf.3	+	25	3687	c.3403C>T	c.(3403-3405)CGG>TGG	p.R1135W	SMARCA4_uc010dxp.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1135W|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1135W|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1135W|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1135W|SMARCA4_uc010dxt.1_Missense_Mutation_p.R355W|SMARCA4_uc002mqh.3_Missense_Mutation_p.R258W|SMARCA4_uc002mqi.1_Missense_Mutation_p.R338W	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	1135	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity			lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCGGAGGACCGGGGCATGCT	0.632		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.014758	0	4	27		Valid		
ANO8	57719	broad.mit.edu	37	19	17435648	17435648	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:17435648C>T	uc002ngf.2	-	17	3368	c.3209G>A	c.(3208-3210)GGC>GAC	p.G1070D	ANO8_uc010eap.2_RNA	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	anoctamin 8	1070	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(3)	3						GGCCTGCCCGCCCGCCCCGTT	0.711		NaN											0	0	0	0.024245	0	15	99				
TSHZ3	57616	broad.mit.edu	37	19	31770237	31770237	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:31770237A>G	uc002nsy.3	-	2	527	c.462T>C	c.(460-462)AGT>AGC	p.S154S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.448		NaN											0	0	0	0.00308	0	6	265				
CD22	933	broad.mit.edu	37	19	35837577	35837577	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:35837577G>A	uc010edt.2	+	14	2598	c.2521G>A	c.(2521-2523)GAC>AAC	p.D841N	CD22_uc010xst.1_Missense_Mutation_p.D669N|CD22_uc010edu.2_Missense_Mutation_p.D753N|CD22_uc010edv.2_3'UTR|CD22_uc002nzb.3_Missense_Mutation_p.D664N|CD22_uc010edx.2_RNA	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	841	ITIM motif 4.|Cytoplasmic (Potential).				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGAAAATGTGGACTATGTGAT	0.562		NaN											0	0	0	0.004482	0	8	13				
ZFP82	284406	broad.mit.edu	37	19	36896541	36896541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:36896541G>A	uc002ody.1	-	4	405	c.170C>T	c.(169-171)TCA>TTA	p.S57L		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						TTGCTCCAATGAGGAAATCAC	0.383		NaN											0	0	0	0.01441	0	62	101				
ZNF529	57711	broad.mit.edu	37	19	37037947	37037947	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:37037947G>A	uc002oeh.3	-	5	1715	c.1513C>T	c.(1513-1515)CCC>TCC	p.P505S	ZNF529_uc010xth.1_Missense_Mutation_p.P505S|ZNF529_uc010xti.1_Missense_Mutation_p.P487S|ZNF529_uc002oeg.3_Missense_Mutation_p.P400S	NM_020951	NP_066002	Q6P280	ZN529_HUMAN	zinc finger protein 529 isoform a	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					CATTCATAGGGTTTTTCTCCA	0.403		NaN											0	0	0	0.009096	0	4	19				
SIGLEC12	89858	broad.mit.edu	37	19	52002805	52002805	+	Missense_Mutation	SNP	G	G	A	rs149053840		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:52002805G>A	uc002pwx.1	-	3	1030	c.974C>T	c.(973-975)TCG>TTG	p.S325L	SIGLEC12_uc002pww.1_Missense_Mutation_p.S207L|SIGLEC12_uc010eoy.1_Missense_Mutation_p.S52L	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	325	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCTGAGCATCGAGGAGCGAGT	0.667		NaN											0	0	0	0.010729	0	12	89				
ZNF471	57573	broad.mit.edu	37	19	57035702	57035702	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:57035702C>T	uc002qnh.2	+	5	399	c.266C>T	c.(265-267)TCT>TTT	p.S89F		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GATTGGGAATCTATATATGTG	0.333		NaN											0	0	0	0.024245	0	13	72				
ZNF586	54807	broad.mit.edu	37	19	58290574	58290574	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290574G>C	uc002qqd.2	+	3	805	c.619G>C	c.(619-621)GAA>CAA	p.E207Q	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.M164I|ZNF586_uc010euh.2_Missense_Mutation_p.E164Q|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	207	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGCGTTATGAATGCAATGA	0.428		NaN											0	0	0	0.02938	0	7	150				
ZNF586	54807	broad.mit.edu	37	19	58290633	58290633	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:58290633G>C	uc002qqd.2	+	3	864	c.678G>C	c.(676-678)AGG>AGC	p.R226S	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Missense_Mutation_p.G184A|ZNF586_uc010euh.2_Missense_Mutation_p.R183S|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	226	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACACAGGAGGATTCACACTG	0.418		NaN											0	0	0	0.010729	0	10	157				
PROKR1	10887	broad.mit.edu	37	2	68882436	68882436	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:68882436A>C	uc010yqj.1	+	2	910	c.910A>C	c.(910-912)ACC>CCC	p.T304P	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	304	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						CTACGGCTTCACCATCGTGCG	0.587		NaN											0	0	0	0.010729	0	11	93				
FBXO41	150726	broad.mit.edu	37	2	73492583	73492583	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:73492583C>T	uc002sjb.1	-	5	1574	c.1574G>A	c.(1573-1575)CGC>CAC	p.R525H		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	F-box protein 41	464						intracellular	protein binding|zinc ion binding			breast(2)|pancreas(1)	3						GATGGCCTGGCGCCGCAGGCC	0.701		NaN											0	0	0	0.004672	0	3	29				
WBP1	23559	broad.mit.edu	37	2	74687437	74687437	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:74687437C>T	uc002slj.1	+	4	592	c.439C>T	c.(439-441)CGC>TGC	p.R147C	WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Missense_Mutation_p.R144C|WBP1_uc002sll.1_RNA	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	WW domain binding protein 1	147							WW domain binding				0						GGCCCCAGGCCGCCCCTTGAC	0.602		NaN											0	0	0	0.01441	0	51	247				
SLC4A10	57282	broad.mit.edu	37	2	162820755	162820755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:162820755G>A	uc002ubx.3	+	22	3157	c.2973G>A	c.(2971-2973)ATG>ATA	p.M991I	SLC4A10_uc002uby.3_Missense_Mutation_p.M961I|SLC4A10_uc010zcs.1_Missense_Mutation_p.M972I	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	991	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TTATTCAGATGAGTTGCCTTG	0.393		NaN											0	0	0	0.009096	0	3	23				
TTN	7273	broad.mit.edu	37	2	179408943	179408943	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179408943G>T	uc010zfg.1	-	294	88533	c.88309C>A	c.(88309-88311)CCC>ACC	p.P29437T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23132T|TTN_uc010zfi.1_Missense_Mutation_p.P23065T|TTN_uc010zfj.1_Missense_Mutation_p.P22940T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30364							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)			CTTTCCACGGGCTCAATTTCA	0.388		NaN											1	0	0.00307968	0.00308	0.00331658	7	54				
TTN	7273	broad.mit.edu	37	2	179591911	179591911	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:179591911C>T	uc010zfg.1	-	66	16673	c.16449G>A	c.(16447-16449)ATG>ATA	p.M5483I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M2144I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6410							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)			TGAGATTGTTCATCTGTATGA	0.453		NaN											0	0	0	0.014758	0	5	78				
ZNF804A	91752	broad.mit.edu	37	2	185801399	185801399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:185801399G>T	uc002uph.2	+	4	1870	c.1276G>T	c.(1276-1278)GTA>TTA	p.V426L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	426						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TGAGCCATTTGTACCTGTCCT	0.373		NaN											1	0	1.5739e-10	0.028581	1.82241e-10	16	85				
ZNF142	7701	broad.mit.edu	37	2	219514052	219514052	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:219514052G>A	uc002vin.2	-	6	1015	c.579C>T	c.(577-579)TGC>TGT	p.C193C	ZNF142_uc002vil.2_Silent_p.C154C|ZNF142_uc010fvt.2_Silent_p.C30C|ZNF142_uc002vim.2_Silent_p.C30C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGTTAGGGCACTGGAGGC	0.557		NaN									OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.020292	0	13	37				
KIF1A	547	broad.mit.edu	37	2	241710435	241710435	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr2:241710435G>A	uc002vzy.2	-	14	1413	c.1267C>T	c.(1267-1269)CGC>TGC	p.R423C	KIF1A_uc010fzk.2_Missense_Mutation_p.R432C|KIF1A_uc002vzz.1_Missense_Mutation_p.R432C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	423					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AACAAGATGCGCTCGTGGAGG	0.647		NaN											0	0	0	0.025465	0	38	80				
KIF16B	55614	broad.mit.edu	37	20	16359928	16359928	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:16359928G>A	uc002wpg.1	-	19	2877	c.2719C>T	c.(2719-2721)CGC>TGC	p.R907C	KIF16B_uc002wpe.1_Missense_Mutation_p.R289C|KIF16B_uc002wpf.1_Missense_Mutation_p.R289C|KIF16B_uc010gch.1_Missense_Mutation_p.R907C|KIF16B_uc010gci.1_Missense_Mutation_p.R907C|KIF16B_uc010gcj.1_Missense_Mutation_p.R918C	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	907	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TGTAGCTGGCGTTCTTTATAT	0.438		NaN											0	0	0	0.021553	0	4	63				
ASXL1	171023	broad.mit.edu	37	20	31021631	31021631	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:31021631G>A	uc002wxs.2	+	11	2056	c.1630G>A	c.(1630-1632)GAT>AAT	p.D544N	ASXL1_uc010geb.2_Missense_Mutation_p.D435N	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	544					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						CCGGCTTGAAGATCGTCAGTC	0.532		NaN	F|N|Mis		MDS|CMML								0	0	0	0.013537	0	13	209				
ZNFX1	57169	broad.mit.edu	37	20	47863986	47863986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:47863986C>T	uc002xui.2	-	14	5822	c.5575G>A	c.(5575-5577)GAT>AAT	p.D1859N		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1859							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCCCACAATCGCCAATCACA	0.517		NaN											0	0	0	0.01441	0	52	114				
NCAM2	4685	broad.mit.edu	37	21	22696785	22696785	+	Silent	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr21:22696785C>A	uc002yld.1	+	6	951	c.702C>A	c.(700-702)GCC>GCA	p.A234A	NCAM2_uc011acb.1_Silent_p.A92A|NCAM2_uc011acc.1_Silent_p.A259A	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	234	Ig-like C2-type 3.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCTGCAGGGCCTCAGGCTCTC	0.507		NaN											1	0	5.18039e-06	0.00308	5.73943e-06	7	107				
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45130923	45130923	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr22:45130923G>A	uc003bfd.2	+	7	844	c.572G>A	c.(571-573)AGG>AAG	p.R191K	PRR5_uc003bew.1_Missense_Mutation_p.R182K|PRR5_uc003bex.1_Missense_Mutation_p.R96K|PRR5_uc010gzt.1_Missense_Mutation_p.R214K|PRR5_uc010gzu.1_Missense_Mutation_p.R155K|PRR5_uc003bey.1_Missense_Mutation_p.R182K|PRR5_uc003bez.1_Missense_Mutation_p.R96K|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R84K|PRR5_uc003bfb.1_Missense_Mutation_p.R191K|PRR5_uc003bfe.1_Intron|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R90K	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2						CATGAGTCCAGGGGCGTGACT	0.652		NaN											0	0	0	0.02938	0	7	59				
CNOT10	25904	broad.mit.edu	37	3	32811403	32811403	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:32811403G>A	uc003cfc.1	+	18	2284	c.2029G>A	c.(2029-2031)GAG>AAG	p.E677K	CNOT10_uc003cfd.1_Missense_Mutation_p.E676K|CNOT10_uc003cfe.1_Missense_Mutation_p.E650K|CNOT10_uc010hfv.1_Intron|CNOT10_uc011axj.1_Missense_Mutation_p.E737K|CNOT10_uc010hfw.1_Missense_Mutation_p.E372K	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	677					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			central_nervous_system(1)|skin(1)	2						CCATCCTAAAGAGGTGCCCCC	0.453		NaN											0	0	0	0.013537	0	10	91				
KBTBD5	131377	broad.mit.edu	37	3	42732383	42732383	+	Missense_Mutation	SNP	G	G	A	rs144187563		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:42732383G>A	uc003clv.1	+	5	1740	c.1640G>A	c.(1639-1641)CGT>CAT	p.R547H		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	547	Kelch 4.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CCACAGGAGCGTAGCTCACTC	0.617		NaN											0	0	0	0.008291	0	8	74				
CCR5	1234	broad.mit.edu	37	3	46415257	46415257	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:46415257G>A	uc003cpo.3	+	3	986	c.864G>A	c.(862-864)ACG>ACA	p.T288T	CCR5_uc010hjd.2_Silent_p.T288T	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	288	Helical; Name=7; (Potential).		T -> M (in INCCR5-72A).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTGGGATGACGCACTGCTGCA	0.473		NaN											0	0	0	0.021523	0	24	376				
RHOA	387	broad.mit.edu	37	3	49412958	49412958	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:49412958A>G	uc003cwu.2	-	2	341	c.65T>C	c.(64-66)CTC>CCC	p.L22P	RHOA_uc010hku.2_Intron	NM_001664	NP_001655	P61586	RHOA_HUMAN	ras homolog gene family, member A precursor	22					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	GAAGACTATGAGCAAGCATGT	0.473		NaN											0	0	0	0.030466	0	42	82		Valid		
VPRBP	9730	broad.mit.edu	37	3	51457623	51457623	+	Missense_Mutation	SNP	C	C	T	rs114108730	by1000genomes	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:51457623C>T	uc003dbe.1	-	14	2969	c.2801G>A	c.(2800-2802)CGG>CAG	p.R934Q	VPRBP_uc003dbf.1_Missense_Mutation_p.R210Q	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	934					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTGGGGGGGCCGTGGCTGAGG	0.597		NaN											0	0	0	0.024245	0	15	47				
SENP7	57337	broad.mit.edu	37	3	101212807	101212807	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:101212807T>C	uc003dut.2	-	3	207	c.96A>G	c.(94-96)AGA>AGG	p.R32R	SENP7_uc003duu.2_Silent_p.R32R|SENP7_uc003duv.2_5'UTR|SENP7_uc003duw.2_Silent_p.R32R|SENP7_uc003dux.2_5'UTR	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	sentrin/SUMO-specific protease 7 isoform 1	32					proteolysis	nucleus	cysteine-type peptidase activity			ovary(3)|lung(2)	5						TTAACATCTTTCTTATCTGAA	0.358		NaN											0	0	0	0.0333	0	14	28				
STXBP5L	9515	broad.mit.edu	37	3	121137298	121137298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:121137298G>A	uc003eec.3	+	27	3553	c.3413G>A	c.(3412-3414)CGT>CAT	p.R1138H	STXBP5L_uc011bji.1_Missense_Mutation_p.R1114H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1138	v-SNARE coiled-coil homology.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		GAGCTGACCCGTGCACGGATT	0.532		NaN											0	0	0	0.013726	0	32	32				
KALRN	8997	broad.mit.edu	37	3	124132333	124132333	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:124132333A>G	uc003ehg.2	+	14	2484	c.2357A>G	c.(2356-2358)GAC>GGC	p.D786G	KALRN_uc010hrv.1_Missense_Mutation_p.D786G|KALRN_uc003ehf.1_Missense_Mutation_p.D786G|KALRN_uc011bjy.1_Missense_Mutation_p.D786G|KALRN_uc003ehh.1_Missense_Mutation_p.D132G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	786					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						GCAGAGCTAGACGCCTGGAAT	0.527		NaN											0	0	0	0.014758	0	5	40				
MUC4	4585	broad.mit.edu	37	3	195515077	195515077	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:195515077T>C	uc011bto.1	-	2	3834	c.3374A>G	c.(3373-3375)GAC>GGC	p.D1125G	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.557		NaN											0	0	0	0.004672	0	2	6				
MXD4	10608	broad.mit.edu	37	4	2254190	2254190	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:2254190T>C	uc003geu.1	-	4	286	c.254A>G	c.(253-255)GAC>GGC	p.D85G		NM_006454	NP_006445	Q14582	MAD4_HUMAN	MAD4	85	Helix-loop-helix motif.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity				0						GCGGGTGCTGTCGGGGCCCAG	0.637		NaN											0	0	0	0.013537	0	13	50				
PPP2R2C	5522	broad.mit.edu	37	4	6473933	6473933	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:6473933C>T	uc003gjc.2	-	1	394	c.24G>A	c.(22-24)CGG>CGA	p.R8R	PPP2R2C_uc011bwd.1_Intron|PPP2R2C_uc011bwe.1_Intron	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN	gamma isoform of regulatory subunit B55, protein	8					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						GGTTAATTTTCCGCGTGTCCG	0.667		NaN											0	0	0	0.015359	0	31	237				
SORCS2	57537	broad.mit.edu	37	4	7725484	7725484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:7725484G>A	uc003gkb.3	+	19	2485	c.2485G>A	c.(2485-2487)GTG>ATG	p.V829M	SORCS2_uc011bwi.1_Missense_Mutation_p.V657M	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	VPS10 domain receptor protein SORCS 2 precursor	829	PKD.|Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(1)|central_nervous_system(1)	2						GGCCATGTACGTGAACCTTAC	0.607		NaN											0	0	0	0.010504	0	19	185				
ANKRD50	57182	broad.mit.edu	37	4	125591960	125591960	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr4:125591960T>C	uc003ifg.3	-	3	2738	c.2472A>G	c.(2470-2472)CAA>CAG	p.Q824Q	ANKRD50_uc011cgo.1_Silent_p.Q645Q|ANKRD50_uc010inw.2_Silent_p.Q824Q	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	824	ANK 11.									central_nervous_system(1)	1						CAACATTTCCTTGTGCTGAAG	0.438		NaN											0	0	0	0.00308	0	8	86				
UGT3A1	133688	broad.mit.edu	37	5	35957445	35957445	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:35957445T>C	uc003jjv.1	-	5	1077	c.920A>G	c.(919-921)CAT>CGT	p.H307R	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.H307R|UGT3A1_uc011cor.1_Missense_Mutation_p.H273R	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	307	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGGACTGATGGGTGTTCAA	0.488		NaN											0	0	0	0.02938	0	5	55				
NSA2	10412	broad.mit.edu	37	5	74069827	74069827	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:74069827C>T	uc003kdk.1	+	5	740	c.657C>T	c.(655-657)GTC>GTT	p.V219V		NM_014886	NP_055701	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog	219					rRNA processing	nucleolus|ribonucleoprotein complex				ovary(1)	1						AAGGTACTGTCATTGAAGTAA	0.423		NaN											0	0	0	0.00308	0	7	79				
PPIP5K2	23262	broad.mit.edu	37	5	102502895	102502895	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:102502895G>A	uc003kod.3	+	18	2452	c.1933G>A	c.(1933-1935)GGA>AGA	p.G645R	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.G645R|PPIP5K2_uc003kof.2_5'Flank	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	645					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						TACTCCATCTGGAAGCATTTC	0.294		NaN											0	0	0	0.02938	0	6	38				
PHF15	23338	broad.mit.edu	37	5	133914401	133914401	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:133914401C>T	uc003kzo.1	+	11	1946	c.1767C>T	c.(1765-1767)GAC>GAT	p.D589D	PHF15_uc011cxt.1_Silent_p.D633D|PHF15_uc003kzk.2_Silent_p.D649D|PHF15_uc003kzl.2_3'UTR|PHF15_uc003kzm.2_Silent_p.D590D|PHF15_uc003kzn.2_3'UTR	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	PHD finger protein 15	589					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCTGGTGACCCTGCTAGGA	0.662		NaN											0	0	0	0.02938	0	6	32				
FGFR4	2264	broad.mit.edu	37	5	176520735	176520735	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:176520735G>A	uc003mfl.2	+	11	1645	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	FGFR4_uc003mfm.2_Missense_Mutation_p.R493Q|FGFR4_uc011dfu.1_Missense_Mutation_p.R425Q|FGFR4_uc003mfo.2_Missense_Mutation_p.R453Q	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	493	Protein kinase.|Cytoplasmic (Potential).				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GACCCTGCCCGGCCTGACCAA	0.453		NaN								TSP Lung(9;0.080)			0	0	0	0.014758	0	5	42				
BTN2A2	10385	broad.mit.edu	37	6	26384093	26384093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:26384093T>C	uc003nhq.2	+	2	130	c.44T>C	c.(43-45)CTC>CCC	p.L15P	BTN2A2_uc011dkf.1_Missense_Mutation_p.L15P|BTN2A2_uc011dkg.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhr.2_Missense_Mutation_p.L15P|BTN2A2_uc011dkh.1_Missense_Mutation_p.L15P|BTN2A2_uc003nhs.2_Missense_Mutation_p.L15P|BTN2A2_uc003nht.2_Missense_Mutation_p.L15P	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	15					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						CCAGCCTCcctcctcctcctc	0.483		NaN											0	0	0	0.021553	0	3	101				
PBX2	5089	broad.mit.edu	37	6	32154671	32154671	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:32154671G>A	uc003oav.1	-	7	1303	c.1032C>T	c.(1030-1032)GGC>GGT	p.G344G	AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	344							transcription factor binding			ovary(1)	1						TGAAAGAGCCGCCAGAGCCTT	0.527		NaN											0	0	0	0.004672	0	3	49				
PNRC1	10957	broad.mit.edu	37	6	89793784	89793784	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:89793784A>T	uc003pmv.2	+	2	1038	c.853A>T	c.(853-855)AGT>TGT	p.S285C	PNRC1_uc003pmx.2_Missense_Mutation_p.S100C	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	285	SH3-binding.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding				0		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		GGCAAAGTTTAGTGATCCACC	0.408		NaN								Multiple Myeloma(7;0.094)			0	0	0	0.004672	0	3	57				
REV3L	5980	broad.mit.edu	37	6	111688580	111688580	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:111688580T>C	uc003puy.3	-	14	6734	c.6411A>G	c.(6409-6411)AAA>AAG	p.K2137K	REV3L_uc003pux.3_Silent_p.K2059K|REV3L_uc003puz.3_Silent_p.K2059K|REV3L_uc003pva.1_RNA	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	2137					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATTTAATGCTTTGGAATCTG	0.378		NaN						DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					0	0	0	0.028581	0	14	109				
CTAGE9	643854	broad.mit.edu	37	6	132031779	132031779	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:132031779T>C	uc011ece.1	-	1	379	c.379A>G	c.(379-381)AGT>GGT	p.S127G	ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_001145659	NP_001139131	A4FU28	CTGE9_HUMAN	CTAGE family, member 4-like	127	Potential.					integral to membrane					0						GCCTCCAAACTTCGTGCTTCT	0.403		NaN											0	0	0	0.014323	0	18	107				
FNDC1	84624	broad.mit.edu	37	6	159654483	159654483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:159654483G>A	uc010kjv.2	+	11	3139	c.2939G>A	c.(2938-2940)CGT>CAT	p.R980H	FNDC1_uc010kjw.1_Missense_Mutation_p.R865H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCCTGCTCGTCCGCCCGCA	0.662		NaN											0	0	0	0.006214	0	5	15				
MEOX2	4223	broad.mit.edu	37	7	15652118	15652118	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:15652118G>C	uc003stc.2	-	3	1090	c.809C>G	c.(808-810)TCA>TGA	p.S270*	MEOX2_uc011jxw.1_Nonsense_Mutation_p.S270*	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	270					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGACAGCTCTGATGGGAGAAG	0.537		NaN											0	0	0	0.006214	0	10	176				
CRHR2	1395	broad.mit.edu	37	7	30704745	30704745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:30704745G>A	uc003tbn.2	-	5	728	c.484C>T	c.(484-486)CGA>TGA	p.R162*	CRHR2_uc010kvw.1_Nonsense_Mutation_p.R162*|CRHR2_uc010kvx.1_Nonsense_Mutation_p.R161*|CRHR2_uc010kvy.1_5'UTR|CRHR2_uc003tbo.2_Nonsense_Mutation_p.R148*|CRHR2_uc003tbp.2_Nonsense_Mutation_p.R189*	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	162	Helical; Name=2; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			lung(2)|ovary(1)|skin(1)	4						ATGACATTTCGCAGGATAAAG	0.572		NaN											0	0	0	0.02938	0	6	81				
SBDS	51119	broad.mit.edu	37	7	66459244	66459244	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:66459244G>A	uc003tvm.1	-	2	397	c.213C>T	c.(211-213)CTC>CTT	p.L71L	TYW1_uc003tvn.2_5'Flank|TYW1_uc010lai.2_5'Flank	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome protein	71					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			ovary(1)	1						ACGCACTGATGAGATCTTCCT	0.428		NaN	Gene Conversion			AML|MDS			Shwachman-Diamond_syndrome				0	0	0	0.013537	0	9	119				
PPP1R9A	55607	broad.mit.edu	37	7	94917928	94917928	+	Silent	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:94917928T>C	uc003unp.2	+	15	3264	c.2982T>C	c.(2980-2982)TCT>TCC	p.S994S	PPP1R9A_uc010lfj.2_Silent_p.S1270S|PPP1R9A_uc011kif.1_Silent_p.S1192S|PPP1R9A_uc003unq.2_Intron|PPP1R9A_uc011kig.1_Silent_p.S986S|PPP1R9A_uc003unr.2_Silent_p.S283S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	994	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGCAGGTTTCTCACTGGTTAA	0.448		NaN								HNSCC(28;0.073)			0	0	0	0.013537	0	12	100				
MUC17	140453	broad.mit.edu	37	7	100679464	100679464	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100679464G>C	uc003uxp.1	+	3	4820	c.4767G>C	c.(4765-4767)GAG>GAC	p.E1589D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1589	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|24.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAACACCC	0.488		NaN											0	0	0	0.021523	0	26	383				
HYAL4	23553	broad.mit.edu	37	7	123516944	123516944	+	Missense_Mutation	SNP	C	C	T	rs150077532	byFrequency	TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:123516944C>T	uc003vlc.2	+	5	1819	c.1181C>T	c.(1180-1182)GCG>GTG	p.A394V	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1						ATGTGGAACGCGCCCAGTTAC	0.507		NaN											0	0	0	0.012319	0	21	72				
CCDC136	64753	broad.mit.edu	37	7	128452358	128452358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:128452358G>C	uc003vnv.1	+	13	2900	c.2533G>C	c.(2533-2535)GAC>CAC	p.D845H	CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.D661H|CCDC136_uc010llq.1_Missense_Mutation_p.D214H|CCDC136_uc003vny.1_Missense_Mutation_p.D455H	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	845						integral to membrane	protein binding			ovary(2)	2						TGAGCCTGAAGACATGGAGGT	0.522		NaN											0	0	0	0.004672	0	3	15				
OR2A12	346525	broad.mit.edu	37	7	143792375	143792375	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:143792375T>C	uc011kty.1	+	1	175	c.175T>C	c.(175-177)TAT>CAT	p.Y59H		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	59	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					CACACCCATGTATGTCTTCCT	0.463		NaN											0	0	0	0.021553	0	5	109				
CNTNAP2	26047	broad.mit.edu	37	7	147600794	147600794	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:147600794G>A	uc003weu.1	+	14	2752	c.2236G>A	c.(2236-2238)GAC>AAC	p.D746N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	746	Extracellular (Potential).|Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGTAACTGCGACGCGGACTA	0.547		NaN								HNSCC(39;0.1)			0	0	0	0.004482	0	8	30				
NOS3	4846	broad.mit.edu	37	7	150696071	150696071	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:150696071G>A	uc003wif.2	+	8	1150	c.854G>A	c.(853-855)CGC>CAC	p.R285H	NOS3_uc011kuy.1_Missense_Mutation_p.R79H|NOS3_uc011kuz.1_Missense_Mutation_p.R285H|NOS3_uc011kva.1_Missense_Mutation_p.R285H|NOS3_uc011kvb.1_Missense_Mutation_p.R285H	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	285	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAAACGGTCGCTTCGACGTG	0.672		NaN											0	0	0	0.017118	0	36	133				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:12957624C>G	uc003wwm.2	-	9	2666	c.2222G>C	c.(2221-2223)AGC>ACC	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	741	Poly-Ser.				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						GCTGCTGCTGCTGGTCTGCGT	0.627		NaN											0	0	0	0.02938	0	6	82				
VDAC3	7419	broad.mit.edu	37	8	42260958	42260958	+	Silent	SNP	G	G	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:42260958G>A	uc011lct.1	+	8	824	c.681G>A	c.(679-681)CTG>CTA	p.L227L	VDAC3_uc003xpc.2_Silent_p.L228L	NM_005662	NP_005653	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3 isoform b	227	Beta stranded; (By similarity).				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			upper_aerodigestive_tract(1)	1	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGTACATGCTGGATTGTAGAA	0.413		NaN											0	0	0	0.009096	0	4	113				
ZNF704	619279	broad.mit.edu	37	8	81582753	81582753	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:81582753C>T	uc003yby.1	-	5	876	c.644G>A	c.(643-645)CGA>CAA	p.R215Q		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	215	C2H2-type.					intracellular	zinc ion binding				0	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATGGATGGTTCGGATGTGTTT	0.527		NaN											0	0	0	0.016723	0	10	114				
CTHRC1	115908	broad.mit.edu	37	8	104394752	104394752	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394752C>T	uc003ylk.2	+	4	755	c.656C>T	c.(655-657)TCA>TTA	p.S219L		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	219						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGTACTTGTTCAGATTACCCA	0.373		NaN											0	0	0	0.024245	0	11	118				
CTHRC1	115908	broad.mit.edu	37	8	104394804	104394804	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr8:104394804C>T	uc003ylk.2	+	4	807	c.708C>T	c.(706-708)ATC>ATT	p.I236I		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	236						collagen				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TTTCTCGCATCATTATTGAAG	0.343		NaN											0	0	0	0.008291	0	9	92				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:20414343A>G	uc003zoe.2	-	5	760	c.501T>C	c.(499-501)AGT>AGC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.139		NaN	T	MLL	ALL								0	0	0	0.00308	0	4	33				
BAAT	570	broad.mit.edu	37	9	104124824	104124824	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:104124824C>T	uc010mtd.2	-	4	1252	c.1143G>A	c.(1141-1143)AGG>AGA	p.R381R	BAAT_uc004bbd.3_Silent_p.R381R	NM_001127610	NP_001121082	Q14032	BAAT_HUMAN	bile acid Coenzyme A: amino acid	381					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			ovary(1)|lung(1)|skin(1)	3		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	CCCAGTGTAACCTCAAATCGT	0.537		NaN											0	0	0	0.021553	0	6	47				
AMBP	259	broad.mit.edu	37	9	116840418	116840418	+	Silent	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr9:116840418C>T	uc004bie.3	-	1	335	c.72G>A	c.(70-72)ACG>ACA	p.T24T	AMBP_uc011lxk.1_5'Flank|AMBP_uc010mvc.1_RNA	NM_001633	NP_001624	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin preproprotein	24					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			skin(1)	1					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617		NaN											0	0	0	0.006214	0	9	88				
ACE2	59272	broad.mit.edu	37	X	15605982	15605982	+	Splice_Site	SNP	C	C	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:15605982C>A	uc004cxa.1	-	6	865	c.697_splice	c.e6-1	p.I233_splice	ACE2_uc004cxb.2_Splice_Site_p.I233_splice	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2 precursor						angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			ovary(3)	3	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATGGTTTAATCTGAAAAGCCC	0.368		NaN											1	0	2.32078e-09	0.024245	2.64741e-09	14	16				
YY2	404281	broad.mit.edu	37	X	21863399	21863399	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:21863399C>T	uc010nfq.2	+	3	532	c.335C>T	c.(334-336)TCT>TTT	p.S112F	MBTPS2_uc004dae.2_Missense_Mutation_p.S112F|MBTPS2_uc004dab.2_Missense_Mutation_p.S112F	NM_206923	NP_996806	O15391	TYY2_HUMAN	YY2 transcription factor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(1)|skin(1)	2						tctccctcttcttattcttcc	0.249		NaN											0	0	0	0.006214	0	8	60				
ARID1A	8289	broad.mit.edu	37	1	27057789	27057790	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr1:27057789_27057790insT	uc001bmv.1	+	3	1870_1871	c.1497_1498insT	c.(1495-1500)TCGTATfs	p.S499fs	ARID1A_uc001bmt.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.S499fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.S116fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	499_500					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCAACCTTCGTATCAGCAGCA	0.604		NaN	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								NaN	NaN	NaN	NaN	NaN	240	357	---	Valid	---	---
C10orf71	118461	broad.mit.edu	37	10	50534970	50534971	+	Frame_Shift_Del	DEL	AC	AC	-	rs72337199		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr10:50534970_50534971delAC	uc010qgp.1	+	4	2408_2409	c.2069_2070delAC	c.(2068-2070)AACfs	p.N690fs		NM_199459	NP_955629	Q711Q0	CJ071_HUMAN	hypothetical protein LOC118461 isoform 2	690											0						AAAACAAGCAacacacacacac	0.406		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr11:281553_281555delGAG	uc010qvs.1	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)GAGdel	p.E611del	NLRP6_uc010qvt.1_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67		NaN											NaN	NaN	NaN	NaN	NaN	7	187	---		---	---
FOXA1	3169	broad.mit.edu	37	14	38061857	38061858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr14:38061857_38061858insA	uc001wuf.2	-	2	443_444	c.131_132insT	c.(130-132)ATGfs	p.M44fs	FOXA1_uc010tpz.1_Frame_Shift_Ins_p.M11fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	forkhead box A1	44					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding				0	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGTAGGTGTTCATGGAGTTCAT	0.614		NaN											NaN	NaN	NaN	NaN	NaN	18	96	---	Valid	---	---
FAM104A	84923	broad.mit.edu	37	17	71223344	71223346	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr17:71223344_71223346delCTT	uc002jji.3	-	2	367_369	c.279_281delAAG	c.(277-282)AGAAGT>AGT	p.R93del	FAM104A_uc002jjj.3_In_Frame_Del_p.R93del	NM_032837	NP_116226	Q969W3	F104A_HUMAN	hypothetical protein LOC84923 isoform 2	93											0			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTTCTGCTACTTCTTTTGGTCT	0.409		NaN											NaN	NaN	NaN	NaN	NaN	7	66	---		---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:40900180_40900182delTCC	uc002onr.2	-	7	4346_4348	c.4077_4079delGGA	c.(4075-4080)GAGGAA>GAA	p.1359_1360EE>E	PRX_uc002onq.2_In_Frame_Del_p.1220_1221EE>E|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1359_1360	Poly-Glu.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.606		NaN											NaN	NaN	NaN	NaN	NaN	7	91	---		---	---
IRF2BP1	26145	broad.mit.edu	37	19	46388156	46388157	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr19:46388156_46388157insCA	uc002pds.1	-	1	1220_1221	c.876_877insTG	c.(874-879)GTGGCTfs	p.V292fs		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein	292_293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		ATCTGGCGAGCCACTGCCAGGA	0.594		NaN											NaN	NaN	NaN	NaN	NaN	9	126	---		---	---
ZNF341	84905	broad.mit.edu	37	20	32371588	32371589	+	Frame_Shift_Ins	INS	-	-	G	rs139829835		TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr20:32371588_32371589insG	uc002wzy.2	+	12	1790_1791	c.1770_1771insG	c.(1768-1773)AGCGGGfs	p.S590fs	ZNF341_uc002wzx.2_Frame_Shift_Ins_p.S583fs|ZNF341_uc010geq.2_Frame_Shift_Ins_p.S500fs|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	590_591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CCCACGGCAGCGGGGGCAGGTT	0.614		NaN											NaN	NaN	NaN	NaN	NaN	11	163	---		---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr3:129546680_129546682delGCA	uc003emz.3	-	4	1041_1043	c.540_542delTGC	c.(538-543)GCTGCA>GCA	p.180_181AA>A	TMCC1_uc010htg.2_In_Frame_Del_p.66_67AA>A	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180_181						integral to membrane				skin(1)	1						TGGTAGACATgcagcagcagcag	0.404		NaN											NaN	NaN	NaN	NaN	NaN	7	64	---		---	---
PLEKHG4B	153478	broad.mit.edu	37	5	162962	162962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr5:162962delG	uc003jak.2	+	11	1757	c.1707delG	c.(1705-1707)GTGfs	p.V569fs		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	569					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCAGGTGTGGCAGTGCTGA	0.647		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
E2F3	1871	broad.mit.edu	37	6	20402595	20402597	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr6:20402595_20402597delCGC	uc003nda.2	+	1	459_461	c.132_134delCGC	c.(130-135)TTCGCC>TTC	p.A53del	E2F3_uc003ncz.2_In_Frame_Del_p.A53del	NM_001949	NP_001940	O00716	E2F3_HUMAN	E2F transcription factor 3	53	Poly-Ala.				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GCCCCGGCTTcgccgccgccgcc	0.591		NaN											NaN	NaN	NaN	NaN	NaN	19	692	---		---	---
VGF	7425	broad.mit.edu	37	7	100807026	100807028	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chr7:100807026_100807028delCCT	uc003uxx.3	-	2	1315_1317	c.1097_1099delAGG	c.(1096-1101)GAGGCG>GCG	p.E366del		NM_003378	NP_003369	O15240	VGF_HUMAN	VGF nerve growth factor inducible precursor	366	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity				0	Lung NSC(181;0.168)|all_lung(186;0.215)					tcctgctccgcctcctcctcctc	0.369		NaN											NaN	NaN	NaN	NaN	NaN	2	4	---		---	---
KDM6A	7403	broad.mit.edu	37	X	44833924	44833924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LD-01A-12D-A20D-08	TCGA-BT-A2LD-10A-01D-A20D-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc95719c-7fcc-4ed7-837e-1840c0a6bc27	c8dad5de-60a0-4dec-9529-5c70a6216491	g.chrX:44833924delC	uc004dge.3	+	4	723	c.348delC	c.(346-348)TACfs	p.Y116fs	KDM6A_uc010nhk.2_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mkz.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mla.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlb.1_Frame_Shift_Del_p.Y116fs|KDM6A_uc011mlc.1_5'UTR	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	116	TPR 1.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.?(1)		kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TATCTGCATACCAGAGGTACT	0.348		NaN	D|N|F|S		renal|oesophageal SCC|MM								NaN	NaN	NaN	NaN	NaN	23	21	---	Valid	---	---
