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
CSF3R	1441	broad.mit.edu	37	1	36939177	36939177	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:36939177C>T	uc001caw.1	-	6	710	c.532G>A	c.(532-534)GTG>ATG	p.V178M	CSF3R_uc009vvc.1_5'Flank|CSF3R_uc001cau.1_5'Flank|CSF3R_uc001cav.1_Missense_Mutation_p.V178M|CSF3R_uc001cax.1_Missense_Mutation_p.V178M|CSF3R_uc001cay.1_Missense_Mutation_p.V178M	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	178	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTTGGGCACGCAGTCCAGG	0.607000												
UBAP2L	9898	broad.mit.edu	37	1	154233469	154233469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:154233469C>T	uc001fep.3	+	23	2847	c.2680C>T	c.(2680-2682)CAG>TAG	p.Q894*	UBAP2L_uc009wot.2_Nonsense_Mutation_p.Q894*|UBAP2L_uc010pek.1_Nonsense_Mutation_p.Q886*|UBAP2L_uc010pel.1_Nonsense_Mutation_p.Q904*|UBAP2L_uc010pen.1_Nonsense_Mutation_p.Q808*|UBAP2L_uc001feq.2_Nonsense_Mutation_p.Q90*|UBAP2L_uc001fer.2_Nonsense_Mutation_p.Q90*	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	894					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATACCACGCAGCAGACATT	0.622000												
NEK7	140609	broad.mit.edu	37	1	198247156	198247156	+	Silent	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:198247156C>T	uc001gun.3	+	6	765	c.438C>T	c.(436-438)TGC>TGT	p.C146C		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	146	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|lung(1)|ovary(1)	4						TTCAGCTTTGCAGTGCATTGG	0.294000												
OR13G1	441933	broad.mit.edu	37	1	247835548	247835548	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:247835548C>T	uc001idi.1	-	1	796	c.796G>A	c.(796-798)GAA>AAA	p.E266K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTGTCTCTTTCAAATGTATAG	0.463000												
CDH23	64072	broad.mit.edu	37	10	73437319	73437319	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:73437319G>A	uc001jrx.3	+	15	1998	c.1621G>A	c.(1621-1623)GAG>AAG	p.E541K	CDH23_uc001jry.2_Missense_Mutation_p.E157K|CDH23_uc001jrz.2_Missense_Mutation_p.E157K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	541	Cadherin 5.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CGGGGGCGGCGAGGAGACCAC	0.602000												
CHUK	1147	broad.mit.edu	37	10	101978784	101978784	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:101978784G>C	uc001kqp.2	-	7	725	c.670C>G	c.(670-672)CAT>GAT	p.H224D		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	224	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GGCTGCAGATGATGCAAAAAA	0.368000												
GBF1	8729	broad.mit.edu	37	10	104119979	104119979	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:104119979G>A	uc001kux.1	+	12	1456	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.E406K|GBF1_uc001kuz.1_Missense_Mutation_p.E407K	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	406					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCATCCGCGAGCTCTTCCG	0.537000												
ACADSB	36	broad.mit.edu	37	10	124794014	124794014	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr10:124794014T>C	uc001lhb.2	+	2	302	c.185T>C	c.(184-186)ATG>ACG	p.M62T	ACADSB_uc010qub.1_5'UTR	NM_001609	NP_001600	P45954	ACDSB_HUMAN	acyl-Coenzyme A dehydrogenase, short/branched	62					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GATGAGGAAATGATGATAAAG	0.313000												
DCHS1	8642	broad.mit.edu	37	11	6651061	6651061	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:6651061G>C	uc001mem.1	-	11	5287	c.4877C>G	c.(4876-4878)TCC>TGC	p.S1626C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1626	Cadherin 15.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGCGGCGGGGAGCCGTGGTC	0.652000												
CTR9	9646	broad.mit.edu	37	11	10795681	10795681	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:10795681G>A	uc001mja.2	+	22	2999	c.2850G>A	c.(2848-2850)GAG>GAA	p.E950E		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	SH2 domain binding protein 1	950	Lys-rich.				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				ovary(2)	2				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		gtgaagatgaggagggtggtg	0.194000												
PDE3B	5140	broad.mit.edu	37	11	14810696	14810696	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:14810696C>G	uc001mln.2	+	4	1676	c.1323C>G	c.(1321-1323)AGC>AGG	p.S441R	PDE3B_uc010rcr.1_Missense_Mutation_p.S390R	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	441					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0						TGAGGAGAAGCTCAGGAACTT	0.373000												
INTS4	92105	broad.mit.edu	37	11	77632475	77632475	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:77632475G>C	uc001oys.2	-	14	1703	c.1675C>G	c.(1675-1677)CCA>GCA	p.P559A	INTS4_uc001oyt.2_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	559					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGCATTGTTGGACAGGTTTTA	0.418000												
ODZ4	26011	broad.mit.edu	37	11	78380749	78380749	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:78380749C>T	uc001ozl.3	-	32	7104	c.6641G>A	c.(6640-6642)CGC>CAC	p.R2214H	ODZ4_uc001ozk.3_Missense_Mutation_p.R439H|ODZ4_uc009yvb.1_Missense_Mutation_p.R798H	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2214	Extracellular (Potential).|YD 18.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						GTAGCTGTAGCGCCAGAGTGG	0.562000												
CCDC83	220047	broad.mit.edu	37	11	85593611	85593611	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:85593611T>C	uc001pbh.1	+	4	748	c.236T>C	c.(235-237)CTG>CCG	p.L79P	CCDC83_uc001pbg.1_Missense_Mutation_p.L79P|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.L36P	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	79	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTAAAGGAACTGAGTGAAGAG	0.393000												
CASP5	838	broad.mit.edu	37	11	104872902	104872902	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:104872902G>C	uc010rva.1	-	5	602	c.570C>G	c.(568-570)GAC>GAG	p.D190E	CASP5_uc010ruz.1_Missense_Mutation_p.D203E|CASP5_uc010rvb.1_Missense_Mutation_p.D132E|CASP5_uc010rvc.1_Missense_Mutation_p.D48E|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_5'UTR	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	190					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGCGTCTGCGGTCCTCTCTCT	0.468000												
SLC35F2	54733	broad.mit.edu	37	11	107675446	107675446	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:107675446A>T	uc001pjq.2	-	6	1203	c.782T>A	c.(781-783)ATT>AAT	p.I261N	SLC35F2_uc010rvu.1_Missense_Mutation_p.I113N|SLC35F2_uc001pjs.2_3'UTR	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	261					transport	integral to membrane				central_nervous_system(1)	1		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TTACATACCAATTTTCCAGTC	0.303000												
MCAM	4162	broad.mit.edu	37	11	119183094	119183094	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr11:119183094G>A	uc001pwf.2	-	8	935	c.906C>T	c.(904-906)AAC>AAT	p.N302N	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	302	Ig-like C2-type 1.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCAGGACCCCGTTGTCGTTGG	0.607000												
PRB2	653247	broad.mit.edu	37	12	11545916	11545916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:11545916G>A	uc010shk.1	-	3	1131	c.1096C>T	c.(1096-1098)CCA>TCA	p.P366S		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGTCCTTGTGGCTTTCCTGGA	0.612000												
ATF7IP	55729	broad.mit.edu	37	12	14589055	14589055	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:14589055G>A	uc001rbw.2	+	4	1819	c.1661G>A	c.(1660-1662)CGA>CAA	p.R554Q	ATF7IP_uc010shs.1_Missense_Mutation_p.R553Q|ATF7IP_uc001rbu.2_Missense_Mutation_p.R554Q|ATF7IP_uc001rbv.1_Missense_Mutation_p.R553Q|ATF7IP_uc001rbx.2_Missense_Mutation_p.R553Q|ATF7IP_uc010sht.1_Missense_Mutation_p.R554Q|ATF7IP_uc001rby.3_Missense_Mutation_p.R554Q|ATF7IP_uc001rca.2_Missense_Mutation_p.R554Q	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	554	Glu-rich.|Nuclear localization signal (By similarity).				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TTTTCTAGACGAAAACGTTCT	0.343000												
ATF7IP	55729	broad.mit.edu	37	12	14614026	14614026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:14614026C>A	uc001rbw.2	+	9	2914	c.2756C>A	c.(2755-2757)TCG>TAG	p.S919*	ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Nonsense_Mutation_p.S919*|ATF7IP_uc001rbv.1_Nonsense_Mutation_p.S918*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.S918*|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Nonsense_Mutation_p.S919*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.S919*	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	919					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						TTTAGTACTTCGTCTGCTGCA	0.408000												
IRAK4	51135	broad.mit.edu	37	12	44161981	44161981	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:44161981T>A	uc001rnu.3	+	3	197	c.67T>A	c.(67-69)TCA>ACA	p.S23T	IRAK4_uc001rnt.3_Missense_Mutation_p.S23T|IRAK4_uc001rnx.3_5'UTR|IRAK4_uc001rny.3_5'UTR|IRAK4_uc010sky.1_Intron|IRAK4_uc001rnv.3_5'UTR|IRAK4_uc001rnw.3_5'UTR	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	23	Death.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TAGGAAGCTGTCAGATTTTAT	0.348000												
COL2A1	1280	broad.mit.edu	37	12	48387591	48387591	+	Splice_Site	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:48387591C>T	uc001rqu.2	-	14	1105	c.924_splice	c.e14+1	p.K308_splice	COL2A1_uc001rqv.2_Splice_Site_p.K239_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGCCTCTCACCTTCACACCA	0.552000												
ITGA7	3679	broad.mit.edu	37	12	56082736	56082736	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:56082736G>A	uc001shh.2	-	22	3082	c.2862C>T	c.(2860-2862)TGC>TGT	p.C954C	ITGA7_uc001shg.2_Silent_p.C950C|ITGA7_uc010sps.1_Silent_p.C857C|ITGA7_uc001shf.2_5'Flank|ITGA7_uc009znw.2_Silent_p.C197C|ITGA7_uc009znx.2_Silent_p.C831C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	integrin alpha 7 isoform 1 precursor	994	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						TGCCCCGGGCGCAGTCCTAGG	0.592000												
NAV3	89795	broad.mit.edu	37	12	78574822	78574822	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:78574822T>A	uc001syp.2	+	30	5862	c.5689T>A	c.(5689-5691)TCA>ACA	p.S1897T	NAV3_uc001syo.2_Missense_Mutation_p.S1875T|NAV3_uc010sub.1_Missense_Mutation_p.S1354T|NAV3_uc009zsf.2_Missense_Mutation_p.S706T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	1897						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						GGCTGTTAGCTCAGGTGATTT	0.458000										HNSCC(70;0.22)		
TMEM132D	121256	broad.mit.edu	37	12	129569152	129569152	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr12:129569152G>T	uc009zyl.1	-	6	1867	c.1539C>A	c.(1537-1539)AGC>AGA	p.S513R	TMEM132D_uc001uia.2_Missense_Mutation_p.S51R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	513	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)		TCTCCAGGGGGCTGCTCAGGT	0.552000												
MTUS2	23281	broad.mit.edu	37	13	29933476	29933476	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:29933476C>T	uc001usl.3	+	6	3071	c.3013C>T	c.(3013-3015)CGG>TGG	p.R1005W		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	995	Localization to the growing distal tip of microtubules.|Potential.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						TGAGGCTGAGCGGCAGCTGGT	0.627000												
FAM48A	55578	broad.mit.edu	37	13	37622737	37622737	+	Splice_Site	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:37622737C>T	uc001uwg.2	-	3	252	c.4_splice	c.e3-1	p.Q2_splice	FAM48A_uc010abt.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwh.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwi.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwj.2_Splice_Site_p.Q2_splice|FAM48A_uc001uwk.2_Splice_Site_p.Q2_splice|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Splice_Site_p.Q2_splice	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A						autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		AAGCTTGTTGCTGTAAAAAGT	0.274000												
LCP1	3936	broad.mit.edu	37	13	46717504	46717504	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:46717504T>C	uc001vaz.3	-	12	1415	c.1289A>G	c.(1288-1290)TAT>TGT	p.Y430C	LCP1_uc010ack.2_5'Flank|LCP1_uc001vay.3_Missense_Mutation_p.Y27C|LCP1_uc001vba.3_Missense_Mutation_p.Y430C	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	430	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GATCTTTTCATAGAGCTGGAA	0.353000			T	BCL6	NHL 							
MYO16	23026	broad.mit.edu	37	13	109379795	109379795	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr13:109379795G>A	uc001vqt.1	+	4	431	c.305G>A	c.(304-306)CGG>CAG	p.R102Q	MYO16_uc010agk.1_Missense_Mutation_p.R124Q	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	102	ANK 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TAGTGTGCTCGGTATGATAAT	0.383000												
OR4M1	441670	broad.mit.edu	37	14	20249366	20249366	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr14:20249366A>C	uc010tku.1	+	1	885	c.885A>C	c.(883-885)GAA>GAC	p.E295D		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	295	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAAACAAGGAAGTAAAGGCAG	0.358000												
OR4M1	441670	broad.mit.edu	37	14	20249373	20249373	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr14:20249373G>A	uc010tku.1	+	1	892	c.892G>A	c.(892-894)GCA>ACA	p.A298T		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGAAGTAAAGGCAGCCATGAG	0.353000												
SLC24A4	123041	broad.mit.edu	37	14	92915526	92915526	+	Silent	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr14:92915526C>T	uc001yak.2	+	10	819	c.795C>T	c.(793-795)AGC>AGT	p.S265S	SLC24A4_uc001yai.2_Silent_p.S218S|SLC24A4_uc010twm.1_Intron|SLC24A4_uc001yaj.2_Intron|SLC24A4_uc010auj.2_Intron|SLC24A4_uc010twn.1_Silent_p.S38S|uc001yal.1_RNA	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	282	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATGACGGTAGCTATGATGACC	0.493000												
ARL6IP1	23204	broad.mit.edu	37	16	18809256	18809256	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18809256G>C	uc002dfl.1	-	3	350	c.281C>G	c.(280-282)TCC>TGC	p.S94C	ARL6IP1_uc010van.1_Missense_Mutation_p.S65C|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	94						integral to membrane	protein binding				0						CCATTTATTGGAGCCAAAAAT	0.393000												
ARL6IP1	23204	broad.mit.edu	37	16	18809334	18809334	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18809334G>C	uc002dfl.1	-	3	272	c.203C>G	c.(202-204)TCC>TGC	p.S68C	ARL6IP1_uc010van.1_Missense_Mutation_p.S39C|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	68	Helical; (Potential).					integral to membrane	protein binding				0						GGAAACGCCGGACAGAACAGA	0.338000												
ARL6IP1	23204	broad.mit.edu	37	16	18809360	18809360	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18809360G>C	uc002dfl.1	-	3	246	c.177C>G	c.(175-177)ATC>ATG	p.I59M	ARL6IP1_uc010van.1_Missense_Mutation_p.I30M|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	59	Helical; (Potential).					integral to membrane	protein binding				0						CTAGATAGTAGATAATCCTGT	0.303000												
ARL6IP1	23204	broad.mit.edu	37	16	18810035	18810035	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:18810035G>C	uc002dfl.1	-	2	227	c.158C>G	c.(157-159)TCT>TGT	p.S53C	ARL6IP1_uc010van.1_Missense_Mutation_p.S24C|ARL6IP1_uc010bvz.1_RNA	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting	53	Helical; (Potential).					integral to membrane	protein binding				0						AAACACCAAAGAAACCACACC	0.423000												
ZNF423	23090	broad.mit.edu	37	16	49670955	49670955	+	Missense_Mutation	SNP	G	G	A	rs144284315		TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:49670955G>A	uc002efs.2	-	5	2406	c.2108C>T	c.(2107-2109)TCG>TTG	p.S703L	ZNF423_uc010vgn.1_Missense_Mutation_p.S586L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	703	C2H2-type 16.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GTCATCCACCGAGGAAAATTG	0.552000												
HYDIN	54768	broad.mit.edu	37	16	70902554	70902554	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr16:70902554G>A	uc002ezr.2	-	66	11354	c.11226C>T	c.(11224-11226)CCC>CCT	p.P3742P	HYDIN_uc010cfy.2_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	3743										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				CATCCCAGTCGGGGACCTGGT	0.507000												
CNTROB	116840	broad.mit.edu	37	17	7846798	7846798	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:7846798G>A	uc002gjq.2	+	11	2320	c.1401G>A	c.(1399-1401)CAG>CAA	p.Q467Q	CNTROB_uc002gjp.2_Silent_p.Q467Q|CNTROB_uc002gjr.2_Silent_p.Q369Q|CNTROB_uc010vum.1_Silent_p.Q179Q	NM_053051	NP_444279	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	467	Potential.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)	2		Prostate(122;0.173)				CGCAGGCTCAGGAGAGCAGCC	0.622000												
DHRS7C	201140	broad.mit.edu	37	17	9694507	9694507	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:9694507T>G	uc010vvb.1	-	1	95	c.95A>C	c.(94-96)AAG>ACG	p.K32T	DHRS7C_uc010cof.2_Missense_Mutation_p.K32T	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	32						extracellular region	binding|oxidoreductase activity				0						CACAGCTGACTTTGACCACAG	0.567000												
KRT40	125115	broad.mit.edu	37	17	39134527	39134527	+	Silent	SNP	C	C	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:39134527C>G	uc010cxh.1	-	9	1379	c.1218G>C	c.(1216-1218)TCG>TCC	p.S406S	KRT40_uc002hvq.1_RNA	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	type I hair keratin KA36	406	Tail.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)				TGCATGTGGTCGAACATGGGC	0.443000												
EVPL	2125	broad.mit.edu	37	17	74003289	74003289	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:74003289G>A	uc002jqi.2	-	22	6225	c.5997C>T	c.(5995-5997)CGC>CGT	p.R1999R	EVPL_uc010wss.1_Silent_p.R2021R|EVPL_uc010wst.1_Silent_p.R1469R	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1999	Globular 2.|Plectin 7.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						CTTTGCGGCAGCGGCCCATGG	0.667000												
RNF213	57674	broad.mit.edu	37	17	78350178	78350178	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr17:78350178G>A	uc002jyh.1	+	27	7705	c.7482G>A	c.(7480-7482)TCG>TCA	p.S2494S	uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.S876S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTGCAACATCGCTCGTGGACA	0.483000												
HSD11B1L	374875	broad.mit.edu	37	19	5686455	5686455	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:5686455C>T	uc002mck.2	+	4	483	c.233C>T	c.(232-234)GCC>GTC	p.A78V	HSD11B1L_uc002mcu.2_Intron|HSD11B1L_uc002mcl.2_Intron|HSD11B1L_uc002mcm.2_Intron|HSD11B1L_uc002mcq.2_Intron|HSD11B1L_uc002mcr.2_Intron|HSD11B1L_uc002mcs.2_Missense_Mutation_p.A132V|HSD11B1L_uc010dug.2_Missense_Mutation_p.A125V|HSD11B1L_uc002mct.2_Intron|HSD11B1L_uc002mco.2_5'UTR|HSD11B1L_uc002mcn.2_Missense_Mutation_p.A78V|HSD11B1L_uc002mcp.2_Intron	NM_198533	NP_940935	Q7Z5J1	DHI1L_HUMAN	short-chain dehydrogenase/reductase 10 isoform	78						extracellular region	binding|oxidoreductase activity				0						AAGCTGGGCGCCCCCAAGGTC	0.701000												
TMEM146	257062	broad.mit.edu	37	19	5749138	5749138	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:5749138C>T	uc002mda.2	+	11	992	c.931C>T	c.(931-933)CGG>TGG	p.R311W	TMEM146_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	311	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						AGTTATAACTCGGGAGGATAA	0.303000												
MAP2K7	5609	broad.mit.edu	37	19	7977200	7977200	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:7977200C>T	uc002mit.2	+	11	1209	c.1144C>T	c.(1144-1146)CGC>TGC	p.R382C	MAP2K7_uc002miv.2_Missense_Mutation_p.R389C|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.R389C|MAP2K7_uc010dvv.2_Missense_Mutation_p.R257C	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	382					activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	CTTCATCAAGCGCTACGAGAC	0.657000												
MYO1F	4542	broad.mit.edu	37	19	8618058	8618058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:8618058C>T	uc002mkg.2	-	6	583	c.469G>A	c.(469-471)GCC>ACC	p.A157T	MYO1F_uc002mkh.2_Missense_Mutation_p.A157T|MYO1F_uc010xkf.1_Missense_Mutation_p.A157T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	157	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ACAGTCTTGGCGTTGCCGAAG	0.547000												
MUC16	94025	broad.mit.edu	37	19	9086511	9086511	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:9086511A>C	uc002mkp.2	-	1	5508	c.5304T>G	c.(5302-5304)TTT>TTG	p.F1768L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1768	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTTGGTCCAAAATGTGCTGC	0.498000												
MAN2B1	4125	broad.mit.edu	37	19	12774255	12774255	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:12774255T>C	uc002mub.2	-	6	861	c.785A>G	c.(784-786)AAC>AGC	p.N262S	MAN2B1_uc010dyv.1_Missense_Mutation_p.N262S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	262					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6						CCTTGGCGGGTTGTAACCATT	0.587000												
ABHD8	79575	broad.mit.edu	37	19	17412071	17412071	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:17412071C>T	uc002ngb.3	-	2	595	c.355G>A	c.(355-357)GTG>ATG	p.V119M		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	119							hydrolase activity				0						GCCAGCTCCACCTCCAGGGCG	0.537000												
ZNF91	7644	broad.mit.edu	37	19	23542674	23542674	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:23542674T>G	uc002nre.2	-	4	3220	c.3107A>C	c.(3106-3108)AAG>ACG	p.K1036T	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K1004T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	1036	C2H2-type 32.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTAGTAAGCTTTGAGGATCG	0.383000												
POP4	10775	broad.mit.edu	37	19	30101381	30101381	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:30101381G>A	uc002nsf.2	+	3	182	c.126G>A	c.(124-126)ATG>ATA	p.M42I	POP4_uc002nsg.2_Intron	NM_006627	NP_006618	O95707	RPP29_HUMAN	processing of precursor 4	42					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding				0	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CGCCCCGCATGAGCCCGCAGG	0.672000											OREG0025393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF382	84911	broad.mit.edu	37	19	37118304	37118304	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:37118304G>C	uc002oek.2	+	5	1618	c.1505G>C	c.(1504-1506)AGT>ACT	p.S502T	ZNF382_uc010efa.2_Missense_Mutation_p.S453T|ZNF382_uc010efb.2_Missense_Mutation_p.S501T|ZNF382_uc002oel.2_Missense_Mutation_p.S501T	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	502	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).|C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGCCTTCAGTAGGAAATCA	0.448000												
ZNF780A	284323	broad.mit.edu	37	19	40581166	40581166	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:40581166C>T	uc002omy.2	-	6	1408	c.1183G>A	c.(1183-1185)GGG>AGG	p.G395R	ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.G395R|ZNF780A_uc010xvh.1_Missense_Mutation_p.G396R	NM_001010880	NP_001010880	O75290	Z780A_HUMAN	zinc finger protein 780A isoform b	395	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGACTTCCCACATTCCTTA	0.408000												
PRKCG	5582	broad.mit.edu	37	19	54394999	54394999	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:54394999A>T	uc002qcq.1	+	6	883	c.601A>T	c.(601-603)ATC>TTC	p.I201F	PRKCG_uc010eqz.1_Missense_Mutation_p.I201F|PRKCG_uc010yef.1_Missense_Mutation_p.I201F|PRKCG_uc010yeg.1_Missense_Mutation_p.I201F|PRKCG_uc010yeh.1_Missense_Mutation_p.I88F	NM_002739	NP_002730	P05129	KPCG_HUMAN	protein kinase C, gamma	201	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACTGAAGCTCATCCCAGACCC	0.532000												
ZNF134	7693	broad.mit.edu	37	19	58132516	58132516	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:58132516G>A	uc002qpn.2	+	3	1128	c.1029G>A	c.(1027-1029)CCG>CCA	p.P343P	ZNF134_uc002qpo.2_Silent_p.P170P|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	zinc finger protein 134	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		AGTCAAAGCCGTTTGAGTGCA	0.423000												
ZNF512	84450	broad.mit.edu	37	2	27830727	27830727	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:27830727G>A	uc002rla.2	+	10	1039	c.952G>A	c.(952-954)GAG>AAG	p.E318K	ZNF512_uc010ylv.1_Missense_Mutation_p.E239K|ZNF512_uc010ylw.1_Missense_Mutation_p.E289K|ZNF512_uc002rlb.2_Missense_Mutation_p.E239K|ZNF512_uc010ylx.1_Missense_Mutation_p.E239K|ZNF512_uc002rlc.2_Missense_Mutation_p.E239K|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Missense_Mutation_p.E211K	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					CTTCTTTCCAGAGTCAGGACA	0.483000												
HAAO	23498	broad.mit.edu	37	2	42994786	42994786	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:42994786C>T	uc002rst.3	-	9	806	c.731G>A	c.(730-732)CGG>CAG	p.R244Q		NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	244	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1						GCTCAGGCGCCGTCCCCCCAT	0.612000												
MSH6	2956	broad.mit.edu	37	2	48025928	48025928	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:48025928C>G	uc002rwd.3	+	4	958	c.806C>G	c.(805-807)ACT>AGT	p.T269S	MSH6_uc002rwc.2_Missense_Mutation_p.T269S|MSH6_uc010fbj.2_5'UTR|MSH6_uc010yoi.1_Missense_Mutation_p.T139S|MSH6_uc010yoj.1_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	269					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCCAGACACTAAGGAGGAA	0.473000			Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome			
ETAA1	54465	broad.mit.edu	37	2	67631007	67631007	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:67631007A>G	uc002sdz.1	+	5	1332	c.1193A>G	c.(1192-1194)GAC>GGC	p.D398G		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	398						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						CAAAATATCGACATGCCTGAA	0.328000												
THSD7B	80731	broad.mit.edu	37	2	137852589	137852589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:137852589G>A	uc002tva.1	+	3	1004	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.R225Q	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCAGGAGCCGGAACGTGAAG	0.537000												
LRP1B	53353	broad.mit.edu	37	2	141607766	141607766	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:141607766G>A	uc002tvj.1	-	29	5816	c.4844C>T	c.(4843-4845)GCA>GTA	p.A1615V	LRP1B_uc010fnl.1_Missense_Mutation_p.A797V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1615	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTCAGATGCATCGAAGTC	0.363000										TSP Lung(27;0.18)		
SCN2A	6326	broad.mit.edu	37	2	166172057	166172057	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:166172057C>T	uc002udc.2	+	11	1750	c.1460C>T	c.(1459-1461)TCT>TTT	p.S487F	SCN2A_uc002udd.2_Missense_Mutation_p.S487F|SCN2A_uc002ude.2_Missense_Mutation_p.S487F	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	487					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)	TCAGAGAGTTCTTCAGTAGCA	0.348000												
KLHL23	151230	broad.mit.edu	37	2	170598014	170598014	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:170598014G>A	uc002ufh.1	+	5	1671	c.1333G>A	c.(1333-1335)GAA>AAA	p.E445K	KLHL23_uc002ufi.1_Missense_Mutation_p.E445K	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN	kelch-like 23	445	Kelch 4.										0						CGATATCAACGAATGGAGCCT	0.423000												
ERBB4	2066	broad.mit.edu	37	2	213403321	213403321	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:213403321C>T	uc002veg.1	-	1	32	c.-66G>A	c.(-68--64)GCGTG>GCATG		ERBB4_uc002veh.1_Translation_Start_Site|ERBB4_uc010zji.1_Translation_Start_Site|ERBB4_uc010zjj.1_Translation_Start_Site|ERBB4_uc010fut.1_Translation_Start_Site	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene						cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTTTCGGGCACGCGGAGGAGA	0.458000										TSP Lung(8;0.080)		
OBSL1	23363	broad.mit.edu	37	2	220432115	220432115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:220432115C>T	uc010fwk.2	-	4	1774	c.1717G>A	c.(1717-1719)GGA>AGA	p.G573R	OBSL1_uc010fwl.1_Missense_Mutation_p.G48R|OBSL1_uc002vmi.2_Missense_Mutation_p.G573R|OBSL1_uc002vmj.2_Missense_Mutation_p.G160R	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	573	Fibronectin type-III.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCCACGGCTCCGGCTTTCTCG	0.637000												
GIGYF2	26058	broad.mit.edu	37	2	233712181	233712181	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr2:233712181G>A	uc002vti.3	+	29	3921	c.3584G>A	c.(3583-3585)CGT>CAT	p.R1195H	GIGYF2_uc002vtj.3_Missense_Mutation_p.R1216H|GIGYF2_uc002vtk.3_Missense_Mutation_p.R1195H|GIGYF2_uc002vth.3_Missense_Mutation_p.R1189H|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc002vtq.3_Missense_Mutation_p.R528H	NM_015575	NP_056390	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2 isoform b	1195					cell death		protein binding			ovary(4)|central_nervous_system(3)	7		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTTGAGCGCCGTGCCAAACAG	0.274000												
TGM3	7053	broad.mit.edu	37	20	2312665	2312665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:2312665C>T	uc002wfx.3	+	10	1448	c.1351C>T	c.(1351-1353)CAA>TAA	p.Q451*		NM_003245	NP_003236	Q08188	TGM3_HUMAN	transglutaminase 3 precursor	451					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(4)|ovary(3)|breast(1)|skin(1)	9					L-Glutamine(DB00130)	CCAGGAAAGACAAGTGTTCCA	0.532000												
ZNF343	79175	broad.mit.edu	37	20	2464884	2464884	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:2464884G>A	uc002wge.1	-	6	1211	c.723C>T	c.(721-723)ATC>ATT	p.I241I	ZNF343_uc010gao.1_Silent_p.I241I|ZNF343_uc002wgd.1_Silent_p.I151I	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						CTCTACAGTTGATTGCTCCAA	0.458000												
SLC24A3	57419	broad.mit.edu	37	20	19677542	19677542	+	Silent	SNP	T	T	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:19677542T>C	uc002wrl.2	+	14	1790	c.1593T>C	c.(1591-1593)ATT>ATC	p.I531I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	531	Alpha-2.|Helical; (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						CCAGCCTCATTGTGGCCAGAC	0.383000												
ID1	3397	broad.mit.edu	37	20	30193528	30193528	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:30193528C>T	uc002wwg.1	+	1	437	c.338C>T	c.(337-339)TCC>TTC	p.S113F	ID1_uc002wwh.1_Missense_Mutation_p.S113F|hsa-mir-3193|MI0014238_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	inhibitor of DNA binding 1 isoform a	113					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			ovary(1)	1	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AACTCGGAATCCGAAGTTGGA	0.642000												
ARFGEF2	10564	broad.mit.edu	37	20	47587742	47587742	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:47587742G>A	uc002xtx.3	+	10	1428	c.1276G>A	c.(1276-1278)GAG>AAG	p.E426K		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	426					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CAGGACTCACGAGATGTTCAT	0.488000												
KCNG1	3755	broad.mit.edu	37	20	49626833	49626833	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr20:49626833C>T	uc002xwa.3	-	2	338	c.43G>A	c.(43-45)GCG>ACG	p.A15T	KCNG1_uc002xwb.2_Missense_Mutation_p.A15T	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G,	15	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2						CAGCTCAGCGCGCTGTAGTCG	0.662000												
NCAM2	4685	broad.mit.edu	37	21	22906924	22906924	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr21:22906924A>C	uc002yld.1	+	17	2598	c.2349A>C	c.(2347-2349)GAA>GAC	p.E783D	NCAM2_uc011acb.1_Missense_Mutation_p.E641D	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	783	Cytoplasmic (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)		CTAATCACGAAGATGGGAGCC	0.413000												
TOP3B	8940	broad.mit.edu	37	22	22313018	22313018	+	Silent	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr22:22313018C>T	uc002zvs.2	-	17	2388	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T	TOP3B_uc010gtm.1_Silent_p.T196T|TOP3B_uc002zvr.2_Silent_p.T376T|TOP3B_uc010gtl.2_Silent_p.T651T|TOP3B_uc002zvt.3_Silent_p.T651T	NM_003935	NP_003926	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	651					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			kidney(1)	1	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCTGGGGGAGCGTGTAGGTCT	0.642000												
ELFN2	114794	broad.mit.edu	37	22	37771510	37771510	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr22:37771510G>C	uc003asq.3	-	3	851	c.65C>G	c.(64-66)GCC>GGC	p.A22G		NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	leucine rich repeat containing 62	22						cell surface|integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	Melanoma(58;0.0574)					CCAGCAGTCGGCACGCACGGC	0.697000												
MAPK8IP2	23542	broad.mit.edu	37	22	51045178	51045178	+	Silent	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr22:51045178C>T	uc003bmx.2	+	10	2334	c.2217C>T	c.(2215-2217)AGC>AGT	p.S739S	MAPK8IP2_uc003bmy.2_Silent_p.S712S|MAPK8IP2_uc011asc.1_Silent_p.S93S	NM_012324	NP_036456	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting	739	PID.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			large_intestine(2)|central_nervous_system(1)	3		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGAGTCTGAGCGGAGGAGGGC	0.667000												
ZNF35	7584	broad.mit.edu	37	3	44700257	44700257	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr3:44700257A>C	uc003cnq.2	+	4	623	c.402A>C	c.(400-402)AAA>AAC	p.K134N	ZNF35_uc003cnr.2_5'UTR	NM_003420	NP_003411	P13682	ZNF35_HUMAN	zinc finger protein 35	134	Globular domain.				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		AAGCTGAAAAACCCCTCATCA	0.393000												
GLYCTK	132158	broad.mit.edu	37	3	52327139	52327139	+	Silent	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr3:52327139G>A	uc003ddo.2	+	5	1665	c.1569G>A	c.(1567-1569)CGG>CGA	p.R523R	GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Missense_Mutation_p.V365M|GLYCTK_uc003ddr.2_Silent_p.R187R	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	glycerate kinase isoform 1	523					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		TGCGGCCTCGGTGATGGCATA	0.567000												
EVC	2121	broad.mit.edu	37	4	5754776	5754776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr4:5754776C>T	uc003gil.1	+	9	1496	c.1312C>T	c.(1312-1314)CGG>TGG	p.R438W	EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	438					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				GCGCTTCAGCCGGGGTGAGCC	0.692000												
TMPRSS11A	339967	broad.mit.edu	37	4	68780427	68780427	+	Missense_Mutation	SNP	C	C	T	rs150048717	byFrequency	TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr4:68780427C>T	uc003hdr.1	-	9	1104	c.983G>A	c.(982-984)CGA>CAA	p.R328Q	LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.R325Q	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A isoform 1	328	Peptidase S1.|Extracellular (Potential).				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			skin(1)	1						TCTGGCTTCTCGGAGATCATT	0.388000												
C4orf37	285555	broad.mit.edu	37	4	98893457	98893457	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr4:98893457C>T	uc003htt.1	-	7	997	c.907G>A	c.(907-909)GCT>ACT	p.A303T		NM_174952	NP_777612	Q8N412	CD037_HUMAN	hypothetical protein LOC285555	303											0				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CCAGGGGTAGCACAAGCTTCT	0.363000												
TRIO	7204	broad.mit.edu	37	5	14387669	14387669	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr5:14387669C>A	uc003jff.2	+	22	3699	c.3693C>A	c.(3691-3693)TTC>TTA	p.F1231L	TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.F1182L|TRIO_uc003jfh.1_Missense_Mutation_p.F880L	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	1231					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					ACAGAGATTTCTCTCTGCGGA	0.433000												
PCDHB15	56121	broad.mit.edu	37	5	140625810	140625810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr5:140625810C>T	uc003lje.2	+	1	664	c.664C>T	c.(664-666)CGA>TGA	p.R222*		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15 precursor	222	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|breast(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCCACCCCGATCTGGCAC	0.592000												
LRFN2	57497	broad.mit.edu	37	6	40400252	40400252	+	Missense_Mutation	SNP	G	G	A	rs139033638		TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr6:40400252G>A	uc003oph.1	-	2	1066	c.601C>T	c.(601-603)CGC>TGC	p.R201C		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	201	LRR 7.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGATCCAGGCGGGCCAGTTTC	0.627000												
MDN1	23195	broad.mit.edu	37	6	90368581	90368581	+	Silent	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr6:90368581C>T	uc003pnn.1	-	89	14885	c.14769G>A	c.(14767-14769)GAG>GAA	p.E4923E		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCTCTTTCCTCAGCTTCAT	0.463000												
POM121L12	285877	broad.mit.edu	37	7	53103739	53103739	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:53103739T>A	uc003tpz.2	+	1	391	c.375T>A	c.(373-375)TGT>TGA	p.C125*		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	125											0						GGGGGCTGTGTCGTGCCTGGA	0.677000												
MOGAT3	346606	broad.mit.edu	37	7	100839531	100839531	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:100839531G>A	uc003uyc.2	-	6	975	c.808C>T	c.(808-810)CGC>TGC	p.R270C	MOGAT3_uc010lhr.2_Intron	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	270					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			ovary(2)	2	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGAGACCGCGACCCCAGAAG	0.607000												
ZC3HC1	51530	broad.mit.edu	37	7	129663367	129663367	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:129663367C>G	uc003vpi.2	-	8	1244	c.1217G>C	c.(1216-1218)TGC>TCC	p.C406S	ZC3HC1_uc003vph.2_Missense_Mutation_p.C250S|ZC3HC1_uc010lma.2_Intron	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	zinc finger, C3HC type 1	406					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)					GCTGGAGGAGCAGAGGCGAGC	0.602000												
ATP6V0E2	155066	broad.mit.edu	37	7	149576436	149576436	+	Silent	SNP	C	C	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr7:149576436C>G	uc003wgr.2	+	4	1332	c.381C>G	c.(379-381)CTC>CTG	p.L127L	ATP6V0E2_uc003wgs.2_Silent_p.L104L|ATP6V0E2_uc003wgp.2_3'UTR|ATP6V0E2_uc003wgq.2_RNA|uc003wgt.1_5'Flank	NM_145230	NP_660265	Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting, V0 subunit isoform 1	Error:Variant_position_missing_in_Q8NHE4_after_alignment					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuole	ATPase activity, coupled to transmembrane movement of ions|hydrogen ion transmembrane transporter activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			GCCCAGCTCTCGGAATGACTG	0.627000												
MSR1	4481	broad.mit.edu	37	8	15978102	15978102	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:15978102T>G	uc003wwz.2	-	9	1245	c.1047A>C	c.(1045-1047)AAA>AAC	p.K349N	MSR1_uc010lsu.2_Missense_Mutation_p.K367N|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	349	Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAGTCGAACTTTCGTAAATG	0.443000												
SFRP1	6422	broad.mit.edu	37	8	41161050	41161050	+	Silent	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:41161050C>T	uc003xnt.2	-	2	854	c.552G>A	c.(550-552)ACG>ACA	p.T184T		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1 precursor	184					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GAGGACACACCGTTGTGCCTG	0.532000												
ANK1	286	broad.mit.edu	37	8	41547824	41547824	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:41547824A>G	uc003xok.2	-	33	4109	c.4025T>C	c.(4024-4026)TTT>TCT	p.F1342S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.F658S|ANK1_uc003xoi.2_Missense_Mutation_p.F1342S|ANK1_uc003xoj.2_Missense_Mutation_p.F1342S|ANK1_uc003xol.2_Missense_Mutation_p.F1342S|ANK1_uc003xom.2_Missense_Mutation_p.F1383S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1342					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTTGCGCAGAAACGACAGGGA	0.597000												
MATN2	4147	broad.mit.edu	37	8	98973669	98973669	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:98973669G>A	uc003yic.2	+	5	1100	c.869G>A	c.(868-870)TGT>TAT	p.C290Y	MATN2_uc003yib.1_Missense_Mutation_p.C290Y|MATN2_uc010mbh.1_Missense_Mutation_p.C290Y|MATN2_uc003yid.2_Missense_Mutation_p.C290Y|MATN2_uc003yie.1_Missense_Mutation_p.C290Y|MATN2_uc010mbi.1_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	matrilin 2 isoform a precursor	290	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding			ovary(2)	2	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACCACAACTGTGAGCAGCTC	0.577000												
RIMS2	9699	broad.mit.edu	37	8	104940099	104940099	+	Silent	SNP	T	T	G			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:104940099T>G	uc003yls.2	+	9	1801	c.1560T>G	c.(1558-1560)CCT>CCG	p.P520P	RIMS2_uc003ylp.2_Silent_p.P742P|RIMS2_uc003ylw.2_Intron|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron|RIMS2_uc003ylt.2_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAACAACGCCTTTTGTTCCTA	0.269000										HNSCC(12;0.0054)		
OXR1	55074	broad.mit.edu	37	8	107715309	107715309	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:107715309C>T	uc011lht.1	+	7	953	c.854C>T	c.(853-855)TCT>TTT	p.S285F	OXR1_uc003ymf.2_Missense_Mutation_p.S284F|OXR1_uc011lhu.1_Missense_Mutation_p.S277F|OXR1_uc010mcg.2_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.S217F|OXR1_uc003ymi.1_Missense_Mutation_p.S196F	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	285					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATAAAGGAATCTTTACCCATG	0.338000												
COL22A1	169044	broad.mit.edu	37	8	139697494	139697494	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:139697494G>T	uc003yvd.2	-	38	3371	c.2924C>A	c.(2923-2925)CCT>CAT	p.P975H	COL22A1_uc011ljo.1_Missense_Mutation_p.P275H	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	975	Pro-rich.|Gly-rich.|Collagen-like 8.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGAGCCCAGGAGCACCAGG	0.582000										HNSCC(7;0.00092)		
OPLAH	26873	broad.mit.edu	37	8	145111978	145111978	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr8:145111978C>T	uc003zar.3	-	12	1661	c.1579G>A	c.(1579-1581)GTG>ATG	p.V527M	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	527							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCATGCACCACGTCAGCCAGG	0.667000												
APTX	54840	broad.mit.edu	37	9	33001628	33001628	+	Splice_Site	SNP	C	C	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:33001628C>A	uc003zry.2	-	1	1	c.-65_splice	c.e1-1		APTX_uc003zro.2_5'Flank|APTX_uc003zrp.2_5'Flank|APTX_uc003zrq.2_5'Flank|APTX_uc003zrr.2_5'Flank|APTX_uc003zrs.2_5'Flank|APTX_uc003zrt.2_Splice_Site|APTX_uc003zru.2_Splice_Site|APTX_uc003zrv.2_Splice_Site|APTX_uc003zrw.2_Splice_Site|APTX_uc003zrx.2_Splice_Site|APTX_uc003zrz.2_Intron|APTX_uc003zsb.1_Splice_Site|APTX_uc003zsc.1_Splice_Site	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c						cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		TCCGGCGCTGCGGGATGACGT	0.562000								Direct_reversal_of_damage|Editing_and_processing_nucleases				
NOL6	65083	broad.mit.edu	37	9	33469280	33469280	+	Missense_Mutation	SNP	G	G	A	rs116746143	by1000genomes	TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:33469280G>A	uc003zsz.2	-	6	888	c.787C>T	c.(787-789)CGC>TGC	p.R263C	SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zta.2_Missense_Mutation_p.R263C|NOL6_uc010mjv.2_Missense_Mutation_p.R263C|NOL6_uc011lob.1_Missense_Mutation_p.R203C|NOL6_uc003ztb.1_Missense_Mutation_p.R263C	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	nucleolar protein family 6 alpha isoform	263					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			ovary(2)	2			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CGGCACGGGCGGAAGAAGTCA	0.612000												
KIF27	55582	broad.mit.edu	37	9	86498933	86498933	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:86498933C>A	uc004ana.2	-	10	2384	c.2240G>T	c.(2239-2241)GGT>GTT	p.G747V	KIF27_uc010mpw.2_Missense_Mutation_p.G747V|KIF27_uc010mpx.2_Missense_Mutation_p.G747V	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	747	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5						GGCATCATTACCTTAACCGta	0.318000												
C9orf3	84909	broad.mit.edu	37	9	97718206	97718206	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:97718206G>A	uc004ava.2	+	8	1916	c.1781G>A	c.(1780-1782)CGG>CAG	p.R594Q	C9orf3_uc004auy.2_Missense_Mutation_p.R495Q|C9orf3_uc004auz.1_Missense_Mutation_p.R495Q|C9orf3_uc004avc.2_Missense_Mutation_p.R49Q	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	594					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TTCCTTCTTCGGTTTCTTGCC	0.368000												
CTSL2	1515	broad.mit.edu	37	9	99800225	99800225	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:99800225G>T	uc004awt.2	-	2	298	c.101C>A	c.(100-102)GCA>GAA	p.A34E	CTSL2_uc010msi.2_Missense_Mutation_p.A34E|CTSL2_uc004awu.2_5'UTR|CTSL2_uc010msj.1_5'UTR|CTSL2_uc010msk.2_5'UTR	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	34						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				TCTGTGTGTTGCCTTCCACTG	0.478000												
PAPPA	5069	broad.mit.edu	37	9	118950379	118950379	+	Silent	SNP	C	C	T	rs139489198		TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:118950379C>T	uc004bjn.2	+	2	1743	c.1362C>T	c.(1360-1362)AAC>AAT	p.N454N	PAPPA_uc011lxp.1_Silent_p.N247N|PAPPA_uc011lxq.1_Silent_p.N247N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	454	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						AGCAGCACAACGGGGTGTGTG	0.567000												
ZBTB34	403341	broad.mit.edu	37	9	129641763	129641763	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:129641763C>T	uc004bqm.3	+	2	170	c.73C>T	c.(73-75)CTC>TTC	p.L25F		NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GCTAAACGAACTCCGCCTGCA	0.517000												
EHMT1	79813	broad.mit.edu	37	9	140728948	140728948	+	Missense_Mutation	SNP	C	C	T	rs61744215	byFrequency	TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr9:140728948C>T	uc011mfc.1	+	26	3725	c.3688C>T	c.(3688-3690)CGC>TGC	p.R1230C	EHMT1_uc004coe.2_Missense_Mutation_p.R135C	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1230	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|pancreas(1)	3	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTTCAGCACCCGCCTGATCGA	0.692000												
OTUD6A	139562	broad.mit.edu	37	X	69282672	69282672	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chrX:69282672A>T	uc004dxu.1	+	1	332	c.298A>T	c.(298-300)AGA>TGA	p.R100*		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	100										lung(1)|skin(1)	2						AAAGAGAGAAAGAATGGAGTC	0.582000												
PHKA1	5255	broad.mit.edu	37	X	71800871	71800871	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chrX:71800871C>T	uc004eax.3	-	32	3954	c.3653G>A	c.(3652-3654)AGC>AAC	p.S1218N	PHKA1_uc004eay.3_Missense_Mutation_p.S1205N|PHKA1_uc011mqi.1_Missense_Mutation_p.S1146N|PHKA1_uc010nll.2_Missense_Mutation_p.S250N	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	1218					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					GGCACAGATGCTGTGGGGCAG	0.542000												
ARMCX1	51309	broad.mit.edu	37	X	100808144	100808144	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chrX:100808144G>T	uc004ehv.2	+	4	602	c.231G>T	c.(229-231)AAG>AAT	p.K77N	ARMCX1_uc004ehw.2_Missense_Mutation_p.K77N	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	77						integral to membrane	binding			ovary(3)|pancreas(1)	4						CAGAGGTCAAGCCTGAGGTGA	0.567000												
RUNX3	864	broad.mit.edu	37	1	25256279	25256281	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr1:25256279_25256281delGCC	uc001bjq.2	-	1	490_492	c.79_81delGGC	c.(79-81)GGCdel	p.G27del	RUNX3_uc010oen.1_In_Frame_Del_p.G27del|RUNX3_uc009vrj.2_In_Frame_Del_p.G41del|RUNX3_uc001bjr.2_In_Frame_Del_p.G41del|RUNX3_uc009vrk.2_In_Frame_Del_p.G41del|RUNX3_uc009vrl.1_In_Frame_Del_p.G41del	NM_004350	NP_004341	Q13761	RUNX3_HUMAN	runt-related transcription factor 3 isoform 2	27	Poly-Gly.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGCCCATCTTGCCGCCGCCGCCG	0.596												
FBXW9	84261	broad.mit.edu	37	19	12800974	12800975	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-7959-01A-11D-2340-08	TCGA-BR-7959-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f888475-e0fc-48d3-acf3-2aa88cf67228	b003743c-2b6c-4797-938b-63116e82b7fa	g.chr19:12800973_12800974G>GC	uc010dyx.2	-	5	894_895	c.894_895C>GC	c.(892-897)gggcctfs	p.G298fs	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	308							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CCCCTCGAAGGCCCCCCCCAGC	0.624