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
PTPRU	10076	broad.mit.edu	37	1	29638252	29638252	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:29638252G>A	uc001bru.2	+	22	3193	c.3083G>A	c.(3082-3084)CGC>CAC	p.R1028H	PTPRU_uc001brv.2_Missense_Mutation_p.R1024H|PTPRU_uc001brw.2_Missense_Mutation_p.R1018H|PTPRU_uc009vtq.2_Missense_Mutation_p.R1024H|PTPRU_uc009vtr.2_Missense_Mutation_p.R1015H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1028	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TATGTCGTGCGCACTTTTGCC	0.602000												
CYP4B1	1580	broad.mit.edu	37	1	47280902	47280902	+	Missense_Mutation	SNP	C	C	T	rs56180718		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:47280902C>T	uc001cqm.3	+	8	1120	c.1036C>T	c.(1036-1038)CGC>TGC	p.R346C	CYP4B1_uc009vyl.1_Missense_Mutation_p.R183C|CYP4B1_uc001cqn.3_Missense_Mutation_p.R347C|CYP4B1_uc009vym.2_Missense_Mutation_p.R332C|CYP4B1_uc010omk.1_Missense_Mutation_p.R183C	NM_000779	NP_000770	P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B,	346					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)					AGAGGAGGTCCGCGAGATCCT	0.582000												
LRRC7	57554	broad.mit.edu	37	1	70505052	70505052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:70505052G>A	uc001dep.2	+	19	3461	c.3431G>A	c.(3430-3432)GGC>GAC	p.G1144D	LRRC7_uc009wbg.2_Missense_Mutation_p.G428D|LRRC7_uc001deq.2_Missense_Mutation_p.G385D	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1144						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						GATAGGTACGGCAGACCCCCA	0.552000												
LRRIQ3	127255	broad.mit.edu	37	1	74507414	74507414	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:74507414C>G	uc001dfy.3	-	7	1393	c.1201G>C	c.(1201-1203)GAG>CAG	p.E401Q	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	401										ovary(2)	2						ATACTCCGCTCCAATCGTATG	0.358000												
SPAG17	200162	broad.mit.edu	37	1	118623787	118623787	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:118623787C>G	uc001ehk.2	-	15	2214	c.2146G>C	c.(2146-2148)GAT>CAT	p.D716H		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	716						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGTCTATTATCAGGGACTGAG	0.368000												
GJA8	2703	broad.mit.edu	37	1	147380425	147380425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:147380425G>A	uc001epu.1	+	2	406	c.343G>A	c.(343-345)GGC>AGC	p.G115S		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	115	Cytoplasmic (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					GGAGGAGCTGGGCCAGCAGGC	0.657000												
KIRREL	55243	broad.mit.edu	37	1	158063171	158063171	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:158063171C>T	uc001frn.3	+	12	1918	c.1514C>T	c.(1513-1515)GCG>GTG	p.A505V	KIRREL_uc010pib.1_Missense_Mutation_p.A405V|KIRREL_uc009wsq.2_Missense_Mutation_p.A341V|KIRREL_uc001fro.3_Missense_Mutation_p.A319V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	505	Helical; (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					ACCATCGGCGCGAGCATCCTG	0.582000												
PBX1	5087	broad.mit.edu	37	1	164761730	164761730	+	Splice_Site	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:164761730G>C	uc001gct.2	+	3	524	c.266_splice	c.e3-1	p.V89_splice	PBX1_uc010pku.1_Splice_Site_p.V89_splice|PBX1_uc010pkv.1_Splice_Site_p.V6_splice|PBX1_uc001gcs.2_Splice_Site_p.V89_splice|PBX1_uc010pkw.1_Splice_Site	NM_002585	NP_002576	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1						negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	soft_tissue(3)|lung(1)|skin(1)	5						TTTTTCTGTAGTTTTGAGTAT	0.488000			T	TCF3|EWSR1	pre B-ALL|myoepithelioma							
PAPPA2	60676	broad.mit.edu	37	1	176668245	176668245	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:176668245A>C	uc001gkz.2	+	8	3920	c.2756A>C	c.(2755-2757)GAT>GCT	p.D919A	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	919					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						GGGCCTCCTGATGTGGATCAG	0.542000												
CFH	3075	broad.mit.edu	37	1	196695654	196695654	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:196695654A>G	uc001gtj.3	+	13	2168	c.1928A>G	c.(1927-1929)GAA>GGA	p.E643G		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	643	Sushi 11.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						AATGTTAAGGAAAAAACGAAA	0.338000												
PLXNA2	5362	broad.mit.edu	37	1	208201480	208201480	+	Silent	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:208201480G>C	uc001hgz.2	-	31	6221	c.5463C>G	c.(5461-5463)CTC>CTG	p.L1821L	PLXNA2_uc001hgy.2_Silent_p.L91L	NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	1821	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGATGGCTGGGAGCTTGGCGA	0.577000												
C1orf107	27042	broad.mit.edu	37	1	210015666	210015666	+	Silent	SNP	T	T	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:210015666T>A	uc001hhr.1	+	9	1618	c.1542T>A	c.(1540-1542)TCT>TCA	p.S514S	C1orf107_uc009xcu.1_Silent_p.S229S	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	digestive-organ expansion factor homolog	514					multicellular organismal development	nucleus					0				OV - Ovarian serous cystadenocarcinoma(81;0.0367)		TAGACTTTTCTCGAGTGCGGA	0.453000												
IARS2	55699	broad.mit.edu	37	1	220298662	220298662	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:220298662C>G	uc001hmc.2	+	13	1828	c.1724C>G	c.(1723-1725)CCA>CGA	p.P575R		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	mitochondrial isoleucine tRNA synthetase	575					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAACTTCTTCCAAAAGAAGTC	0.383000												
FMN2	56776	broad.mit.edu	37	1	240555826	240555826	+	Missense_Mutation	SNP	A	A	C	rs112553360		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:240555826A>C	uc010pyd.1	+	15	5099	c.4874A>C	c.(4873-4875)GAG>GCG	p.E1625A	FMN2_uc010pye.1_Missense_Mutation_p.E1629A|FMN2_uc010pyf.1_Missense_Mutation_p.E240A|FMN2_uc010pyg.1_Missense_Mutation_p.E221A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1625	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATTGACCAAGAGGCAGAGGAA	0.338000												
PFKFB3	5209	broad.mit.edu	37	10	6255678	6255678	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:6255678C>T	uc001ije.2	+	2	553	c.169C>T	c.(169-171)CGC>TGC	p.R57C	PFKFB3_uc001ijd.2_Missense_Mutation_p.R37C|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R71C|PFKFB3_uc001ijf.2_Missense_Mutation_p.R57C	NM_004566	NP_004557	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,	57	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			ovary(2)|central_nervous_system(1)	3						GAAGCTGACTCGCTACCTCAA	0.592000												
ENKUR	219670	broad.mit.edu	37	10	25273693	25273693	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:25273693T>A	uc001isg.1	-	5	901	c.736A>T	c.(736-738)AAG>TAG	p.K246*	ENKUR_uc001ish.1_Nonsense_Mutation_p.K184*	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	enkurin	246						cilium|flagellum	calmodulin binding|SH3 domain binding				0						ATCTTGTGCTTTTCAATTATG	0.333000												
HKDC1	80201	broad.mit.edu	37	10	71003047	71003047	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:71003047C>T	uc001jpf.3	+	7	934	c.801C>T	c.(799-801)GAC>GAT	p.D267D	HKDC1_uc010qje.1_Silent_p.D130D	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	267					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5						TCGGGGACGACGGGGCCCTGG	0.587000												
MKI67	4288	broad.mit.edu	37	10	129921418	129921418	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr10:129921418G>C	uc001lke.2	-	3	303	c.108C>G	c.(106-108)GAC>GAG	p.D36E	MKI67_uc001lkf.2_Missense_Mutation_p.D36E|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	36	FHA.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGATACGGATGTCACATTCAA	0.353000												
MUC5B	727897	broad.mit.edu	37	11	1274131	1274131	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:1274131C>T	uc009ycr.1	+	54	16230	c.16104C>T	c.(16102-16104)AAC>AAT	p.N5368N	MUC5B_uc001ltb.2_Silent_p.N5049N	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	5046					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGTGGCCAACGTCACCTGCG	0.627000												
FAM160A2	84067	broad.mit.edu	37	11	6232745	6232745	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:6232745G>A	uc001mcl.3	-	12	3269	c.2910C>T	c.(2908-2910)CTC>CTT	p.L970L	FAM160A2_uc001mck.3_Silent_p.L984L	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	970					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						GTTAAGGATTGAGGGGCCCAC	0.567000												
PRKCDBP	112464	broad.mit.edu	37	11	6341682	6341682	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:6341682C>T	uc001mcu.1	-	1	59	c.25G>A	c.(25-27)GGG>AGG	p.G9R		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	9											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCACAGGCCCCCGCTCCAAC	0.701000												
PDE3B	5140	broad.mit.edu	37	11	14889193	14889193	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:14889193C>A	uc001mln.2	+	15	3381	c.3028C>A	c.(3028-3030)CCA>ACA	p.P1010T	PDE3B_uc010rcr.1_Missense_Mutation_p.P959T	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	1010	Catalytic (By similarity).				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						TGGTTTGCTACCAGGTCAGTG	0.418000												
UBXN1	51035	broad.mit.edu	37	11	62445472	62445472	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:62445472G>A	uc001nul.1	-	5	541	c.409C>T	c.(409-411)CGG>TGG	p.R137W	UBXN1_uc001nuj.2_Missense_Mutation_p.R137W|UBXN1_uc001num.1_Missense_Mutation_p.R137W|UBXN1_uc001nuk.2_Missense_Mutation_p.R102W|UBXN1_uc010rme.1_Missense_Mutation_p.R137W|UBXN1_uc010rmf.1_3'UTR	NM_015853	NP_056937	Q04323	UBXN1_HUMAN	UBX domain protein 1	137	Potential.|Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding				0						TCCTGTAGCCGCTGTCGTGCT	0.607000												
FERMT3	83706	broad.mit.edu	37	11	63978840	63978840	+	Missense_Mutation	SNP	C	C	T	rs78534353	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:63978840C>T	uc001nyl.2	+	5	757	c.608C>T	c.(607-609)CCG>CTG	p.P203L	FERMT3_uc001nym.2_Missense_Mutation_p.P203L	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	fermitin family homolog 3 long form	203					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			ovary(1)	1						CGGCCCCAGCCGCCACCCGAC	0.692000												
CDC42BPG	55561	broad.mit.edu	37	11	64597428	64597428	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:64597428G>T	uc001obs.3	-	30	3482	c.3482C>A	c.(3481-3483)GCG>GAG	p.A1161E		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1161	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CTCCAGCTCCGCCAGGGCAAA	0.687000												
PANX1	24145	broad.mit.edu	37	11	93913992	93913992	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:93913992G>C	uc001per.2	+	5	1623	c.1238G>C	c.(1237-1239)GGA>GCA	p.G413A	PANX1_uc001peq.2_Missense_Mutation_p.G409A	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	413	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAAATAATGGAGAGAAGAAT	0.348000												
PANX1	24145	broad.mit.edu	37	11	93913996	93913996	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:93913996G>A	uc001per.2	+	5	1627	c.1242G>A	c.(1240-1242)GAG>GAA	p.E414E	PANX1_uc001peq.2_Silent_p.E410E	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	414	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATAATGGAGAGAAGAATGCCC	0.348000												
PANX1	24145	broad.mit.edu	37	11	93914021	93914021	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:93914021G>A	uc001per.2	+	5	1652	c.1267G>A	c.(1267-1269)GAT>AAT	p.D423N	PANX1_uc001peq.2_Missense_Mutation_p.D419N	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	423	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGACTTCTGGATTCTTCTTG	0.378000												
MLL	4297	broad.mit.edu	37	11	118375821	118375821	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:118375821C>T	uc001pta.2	+	27	9228	c.9205C>T	c.(9205-9207)CCC>TCC	p.P3069S	MLL_uc001ptb.2_Missense_Mutation_p.P3072S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3069					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GACCACTCCACCCCACCTGAA	0.478000			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
USP2	9099	broad.mit.edu	37	11	119243994	119243994	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:119243994T>C	uc001pwm.3	-	2	492	c.197A>G	c.(196-198)TAT>TGT	p.Y66C	USP2_uc001pwn.3_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2 isoform a	66	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			ovary(2)|urinary_tract(1)|skin(1)	4		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGAGGGGCCATAGGTACGGGG	0.637000												
ERC1	23085	broad.mit.edu	37	12	1553865	1553865	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:1553865C>T	uc001qjb.2	+	18	3403	c.3162C>T	c.(3160-3162)GAC>GAT	p.D1054D	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.D1026D|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Silent_p.D1054D|ERC1_uc010sdv.1_3'UTR|ERC1_uc001qje.2_RNA	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	1054	FIP-RBD.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATAACTTGGACGATGACCAGG	0.522000												
KCNA5	3741	broad.mit.edu	37	12	5153796	5153796	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:5153796C>T	uc001qni.2	+	1	712	c.483C>T	c.(481-483)AAC>AAT	p.N161N		NM_002234	NP_002225	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related	161						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(2)|breast(2)	4						CCCTGAGGAACGAGTACTTCT	0.667000												
CLEC12A	160364	broad.mit.edu	37	12	10134661	10134661	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:10134661G>C	uc001qwr.3	+	5	762	c.574G>C	c.(574-576)GGA>CGA	p.G192R	CLEC12A_uc001qwq.2_Missense_Mutation_p.G202R|CLEC12A_uc001qws.3_Missense_Mutation_p.G159R|CLEC12A_uc001qwt.2_Missense_Mutation_p.G121R	NM_138337	NP_612210	Q5QGZ9	CL12A_HUMAN	myeloid inhibitory C-type lectin-like receptor	192	Extracellular (Potential).|C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			skin(1)	1						CTATTGGCTGGGATTATCTCC	0.348000												
SLCO1B1	10599	broad.mit.edu	37	12	21355482	21355482	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:21355482A>C	uc001req.3	+	10	1297	c.1193A>C	c.(1192-1194)AAA>ACA	p.K398T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	398	Cytoplasmic (Potential).				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TATATCATTAAAAAATTCAAA	0.294000												
RECQL	5965	broad.mit.edu	37	12	21623974	21623974	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:21623974C>T	uc001rex.2	-	15	2074	c.1726G>A	c.(1726-1728)GCT>ACT	p.A576T	RECQL_uc001rey.2_Missense_Mutation_p.A576T|PYROXD1_uc001rew.2_3'UTR|PYROXD1_uc009ziq.2_3'UTR|PYROXD1_uc009zir.2_3'UTR	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	576					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2						AGAAGATTAGCTTTAGGTCCT	0.353000								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
ABCD2	225	broad.mit.edu	37	12	39994380	39994380	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:39994380G>A	uc001rmb.2	-	6	2065	c.1639C>T	c.(1639-1641)CCA>TCA	p.P547S		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	547	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6						TACCTTTGTGGAATATAAAAC	0.353000												
LRRK2	120892	broad.mit.edu	37	12	40692268	40692268	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:40692268A>T	uc001rmg.3	+	24	3441	c.3320A>T	c.(3319-3321)GAG>GTG	p.E1107V	LRRK2_uc001rmh.1_Missense_Mutation_p.E729V|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1107					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATGTGGTAGAGAAACTGGAG	0.368000												
SLC39A5	283375	broad.mit.edu	37	12	56630725	56630725	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:56630725C>T	uc010sqj.1	+	11	1475	c.1218C>T	c.(1216-1218)TTC>TTT	p.F406F	SLC39A5_uc010sqk.1_Silent_p.F406F	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (metal ion	406	Cytoplasmic (Potential).				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			ovary(1)|skin(1)	2						GTGCTGCCTTCTCTGATGGCT	0.602000												
CNOT2	4848	broad.mit.edu	37	12	70732502	70732502	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:70732502C>T	uc001svv.2	+	11	1657	c.1078C>T	c.(1078-1080)CTG>TTG	p.L360L	CNOT2_uc009zro.2_Silent_p.L360L|CNOT2_uc009zrp.2_Silent_p.L340L|CNOT2_uc009zrq.2_Silent_p.L360L|CNOT2_uc001svw.1_Silent_p.L100L	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	360					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity				0	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AATGATTGGCCTGTTAACATT	0.423000												
FAM71C	196472	broad.mit.edu	37	12	100043097	100043097	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:100043097A>C	uc001tgn.2	+	2	1069	c.647A>C	c.(646-648)GAG>GCG	p.E216A	ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	hypothetical protein LOC196472	216											0				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		GAAGAGAAGGAGCAATTCAGA	0.393000												
MYO1H	283446	broad.mit.edu	37	12	109877497	109877497	+	Translation_Start_Site	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:109877497G>A	uc010sxo.1	+	1	156	c.-119G>A	c.(-121--117)TCGTG>TCATG		MYO1H_uc010sxn.1_Missense_Mutation_p.V770M			Q8N1T3	MYO1H_HUMAN	SubName: Full=cDNA FLJ54829, moderately similar to Myosin Ic; SubName: Full=Myosin IH, isoform CRA_a;							myosin complex	motor activity				0						GGAATTTATCGTGTTTGTGCG	0.428000												
MED13L	23389	broad.mit.edu	37	12	116453041	116453041	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:116453041C>T	uc001tvw.2	-	8	1103	c.1048G>A	c.(1048-1050)GTT>ATT	p.V350I		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	350					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTGGGAAACCAGGTGACTG	0.448000												
DNAH10	196385	broad.mit.edu	37	12	124343737	124343737	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:124343737G>A	uc001uft.3	+	37	6342	c.6317G>A	c.(6316-6318)CGC>CAC	p.R2106H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2106	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGTTAACCCGCCACACGACG	0.502000												
GLT1D1	144423	broad.mit.edu	37	12	129442113	129442113	+	Silent	SNP	A	A	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:129442113A>G	uc010tbh.1	+	12	828	c.819A>G	c.(817-819)GTA>GTG	p.V273V	GLT1D1_uc001uhx.1_Silent_p.V188V|GLT1D1_uc001uhy.1_RNA	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	268					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups				0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAGTACCGGTATTGGCCAGGA	0.527000												
STX2	2054	broad.mit.edu	37	12	131283094	131283094	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr12:131283094G>C	uc001uio.2	-	9	929	c.762C>G	c.(760-762)ATC>ATG	p.I254M	STX2_uc001uip.2_Missense_Mutation_p.I254M|STX2_uc010tbj.1_Missense_Mutation_p.I254M	NM_194356	NP_919337	P32856	STX2_HUMAN	syntaxin 2 isoform 2	254	Cytoplasmic (Potential).				acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TCTGATATTTGATAGCTTTTT	0.348000												
NBEA	26960	broad.mit.edu	37	13	36006473	36006473	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr13:36006473C>T	uc001uvb.2	+	39	6453	c.6247C>T	c.(6247-6249)CGC>TGC	p.R2083C	NBEA_uc010abi.2_Missense_Mutation_p.R739C	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2083						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGATTTGTTCGCAATGCATT	0.408000												
FREM2	341640	broad.mit.edu	37	13	39262682	39262682	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr13:39262682G>A	uc001uwv.2	+	1	1510	c.1201G>A	c.(1201-1203)GAC>AAC	p.D401N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	401	CSPG 1.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCTTCTGAAGACTCTGACCA	0.552000												
SALL2	6297	broad.mit.edu	37	14	21992064	21992064	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:21992064C>A	uc001wbe.2	-	2	2080	c.1798G>T	c.(1798-1800)GAC>TAC	p.D600Y	SALL2_uc010tly.1_Missense_Mutation_p.D598Y|SALL2_uc010tlz.1_Missense_Mutation_p.D463Y|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.D465Y|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	sal-like 2	600							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|large_intestine(1)	3	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTTGCCGGTCAATCTTTTCT	0.592000												
EFS	10278	broad.mit.edu	37	14	23828664	23828664	+	Silent	SNP	T	T	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:23828664T>G	uc001wjo.2	-	4	1631	c.1023A>C	c.(1021-1023)CCA>CCC	p.P341P	EFS_uc001wjp.2_Silent_p.P248P|EFS_uc010tnm.1_Silent_p.P172P	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	341	SH3-binding (Potential).|Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697000												
FAM179B	23116	broad.mit.edu	37	14	45497516	45497516	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:45497516G>T	uc001wvv.2	+	10	3851	c.3642G>T	c.(3640-3642)GAG>GAT	p.E1214D	FAM179B_uc001wvw.2_Missense_Mutation_p.E1214D|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1214							binding			skin(2)|upper_aerodigestive_tract(1)	3						CAGGAACTGAGAAAATGGCAT	0.323000												
PLEKHG3	26030	broad.mit.edu	37	14	65208577	65208577	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:65208577C>T	uc001xho.1	+	16	2611	c.2342C>T	c.(2341-2343)CCG>CTG	p.P781L	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P725L|PLEKHG3_uc001xhp.2_Missense_Mutation_p.P902L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P323L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P286L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	781					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCTCCCGGCCGACTTCGTGG	0.597000												
SERPINA9	327657	broad.mit.edu	37	14	94931130	94931130	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr14:94931130G>T	uc001ydf.2	-	4	1179	c.1018C>A	c.(1018-1020)CTC>ATC	p.L340I	SERPINA9_uc001yde.2_Missense_Mutation_p.L240I|SERPINA9_uc010avc.2_Missense_Mutation_p.L191I|SERPINA9_uc001ydg.2_Missense_Mutation_p.L304I|SERPINA9_uc001ydh.1_Missense_Mutation_p.L340I|SERPINA9_uc001ydi.1_Missense_Mutation_p.L304I	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	322					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ATCTTCGGGAGGATGGTTTCC	0.438000												
SERINC4	619189	broad.mit.edu	37	15	44089096	44089096	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:44089096C>T	uc010bds.1	-	4	623	c.155G>A	c.(154-156)TGC>TAC	p.C52Y	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Intron|SERINC4_uc001zte.1_Missense_Mutation_p.C52Y	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	serine incorporator 4	296	Helical; (Potential).				phospholipid biosynthetic process	integral to membrane					0		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CATGATATAGCAGCTGATGAC	0.488000												
CYP19A1	1588	broad.mit.edu	37	15	51503185	51503185	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:51503185C>T	uc001zyz.3	-	11	1583	c.1332G>A	c.(1330-1332)ATG>ATA	p.M444I	CYP19A1_uc001zza.3_Missense_Mutation_p.M444I	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	444					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TCATCATCACCATGGCGATGT	0.458000												
PARP16	54956	broad.mit.edu	37	15	65553347	65553347	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:65553347G>A	uc002aoo.2	-	5	963	c.709C>T	c.(709-711)CGC>TGC	p.R237C	PARP16_uc002aop.2_Missense_Mutation_p.R122C|PARP16_uc002aoq.2_Missense_Mutation_p.R237C	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	237	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			lung(2)	2						GCTCGTCTGCGATCTATCTCC	0.453000												
LARP6	55323	broad.mit.edu	37	15	71128781	71128781	+	Silent	SNP	C	C	T	rs150115251		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:71128781C>T	uc002ass.2	-	2	335	c.264G>A	c.(262-264)CCG>CCA	p.P88P		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	88	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0						ACTCCTCATCCGGGGGCTTCC	0.493000												
PARP6	56965	broad.mit.edu	37	15	72551962	72551962	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:72551962C>G	uc002auc.2	-	10	1256	c.797G>C	c.(796-798)GGA>GCA	p.G266A	PARP6_uc002aua.2_Missense_Mutation_p.G111A|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.G266A	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	266							NAD+ ADP-ribosyltransferase activity				0						AACGAGGAATCCATACTCCAG	0.498000												
PML	5371	broad.mit.edu	37	15	74317252	74317252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:74317252C>T	uc002awv.2	+	4	1378	c.1238C>T	c.(1237-1239)CCT>CTT	p.P413L	PML_uc002awm.2_Missense_Mutation_p.P413L|PML_uc002awl.2_Missense_Mutation_p.P413L|PML_uc002awj.1_Missense_Mutation_p.P413L|PML_uc002awk.2_Missense_Mutation_p.P413L|PML_uc002awn.2_Missense_Mutation_p.P413L|PML_uc002awo.2_Missense_Mutation_p.P413L|PML_uc002awp.2_Missense_Mutation_p.P413L|PML_uc002awq.2_Missense_Mutation_p.P413L|PML_uc002awr.2_Missense_Mutation_p.P413L|PML_uc002aws.2_Missense_Mutation_p.P413L|PML_uc002awt.2_Missense_Mutation_p.P413L|PML_uc002awu.2_Missense_Mutation_p.P413L|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.P328L|PML_uc002awx.2_Missense_Mutation_p.P171L|PML_uc002awy.2_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	413					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5						CCCAGGGACCCTATTGACGTT	0.577000			T	RARA|PAX5	APL|ALL							
CSPG4	1464	broad.mit.edu	37	15	75981657	75981657	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:75981657C>T	uc002baw.2	-	3	1842	c.1749G>A	c.(1747-1749)CCG>CCA	p.P583P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	583	Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3						AGGCAGAGTCCGGGTCATAGG	0.642000												
PCSK6	5046	broad.mit.edu	37	15	101938652	101938652	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr15:101938652G>A	uc002bwy.2	-	8	1267	c.953C>T	c.(952-954)CCC>CTC	p.P318L	PCSK6_uc010bpd.2_Missense_Mutation_p.P188L|PCSK6_uc010bpe.2_Missense_Mutation_p.P318L|PCSK6_uc002bxa.2_Missense_Mutation_p.P318L|PCSK6_uc002bxb.2_Missense_Mutation_p.P318L|PCSK6_uc002bxc.1_Missense_Mutation_p.P318L|PCSK6_uc002bxd.1_Missense_Mutation_p.P318L|PCSK6_uc002bxe.2_Missense_Mutation_p.P318L|PCSK6_uc002bxg.1_Missense_Mutation_p.P318L	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	318	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTCGGCCGGGCCCGTCCAC	0.577000												
CLUAP1	23059	broad.mit.edu	37	16	3586166	3586166	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:3586166C>T	uc002cvk.1	+	12	1242	c.1137C>T	c.(1135-1137)GAC>GAT	p.D379D	CLUAP1_uc002cvj.1_3'UTR|CLUAP1_uc002cvl.1_Silent_p.D398D|CLUAP1_uc002cvm.1_Silent_p.D213D|uc002cvn.1_5'Flank	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1 isoform 1	379	Asp-rich.					nucleus	protein binding			ovary(1)|breast(1)|pancreas(1)	3						ATGATGATGACGAGGATGACG	0.483000												
SULT1A1	6817	broad.mit.edu	37	16	28619682	28619682	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:28619682G>C	uc002dqi.2	-	3	775	c.302C>G	c.(301-303)GCC>GGC	p.A101G	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqk.2_Missense_Mutation_p.A101G|SULT1A1_uc002dql.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.A192G|SULT1A1_uc002dqo.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqp.2_Missense_Mutation_p.A101G	NM_177534	NP_803878	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A,	101					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0						GAGTCGTGGGGCCGGTGTGTC	0.527000												
SLC6A2	6530	broad.mit.edu	37	16	55729245	55729245	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:55729245G>A	uc002eif.2	+	8	1189	c.1078G>A	c.(1078-1080)GCC>ACC	p.A360T	SLC6A2_uc010ccd.2_Missense_Mutation_p.A360T|SLC6A2_uc002eig.2_Missense_Mutation_p.A360T|SLC6A2_uc002eih.2_Missense_Mutation_p.A360T|SLC6A2_uc002eii.2_Missense_Mutation_p.A255T|SLC6A2_uc002eij.2_Missense_Mutation_p.A74T	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	360	Helical; Name=7; (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTCTGGGTTCGCCATCTTCTC	0.577000												
TAF1C	9013	broad.mit.edu	37	16	84218553	84218553	+	Silent	SNP	G	G	A	rs141321804	by1000genomes	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:84218553G>A	uc002fhn.2	-	2	270	c.42C>T	c.(40-42)ACC>ACT	p.T14T	TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Silent_p.T14T|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.T14T	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	14					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1						CAAGGGGGCCGGTCAGAAACA	0.607000												
MTHFSD	64779	broad.mit.edu	37	16	86565700	86565700	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr16:86565700G>T	uc002fjn.2	-	8	1120	c.1069C>A	c.(1069-1071)CAG>AAG	p.Q357K	MTHFSD_uc010voo.1_Missense_Mutation_p.Q337K|MTHFSD_uc002fjo.2_Missense_Mutation_p.Q194K|MTHFSD_uc002fjm.2_Missense_Mutation_p.Q356K|MTHFSD_uc010vop.1_Missense_Mutation_p.Q194K|MTHFSD_uc010voq.1_Missense_Mutation_p.Q356K|MTHFSD_uc010vor.1_Missense_Mutation_p.Q357K	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	357	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0						GAGACGGCCTGCTGGGCTGCG	0.716000												
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	G	rs121912655		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:7577556C>G	uc002gim.2	-	7	919	c.725G>C	c.(724-726)TGC>TCC	p.C242S	TP53_uc002gig.1_Missense_Mutation_p.C242S|TP53_uc002gih.2_Missense_Mutation_p.C242S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110S|TP53_uc010cng.1_Missense_Mutation_p.C110S|TP53_uc002gii.1_Missense_Mutation_p.C110S|TP53_uc010cnh.1_Missense_Mutation_p.C242S|TP53_uc010cni.1_Missense_Mutation_p.C242S|TP53_uc002gij.2_Missense_Mutation_p.C242S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149S|TP53_uc002gio.2_Missense_Mutation_p.C110S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	242	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).	Zinc.	C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGCCCATGCAGGAACTGTT	0.577000		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
EFNB3	1949	broad.mit.edu	37	17	7611542	7611542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:7611542G>A	uc002gis.2	+	2	786	c.389G>A	c.(388-390)CGC>CAC	p.R130H		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	130	Extracellular (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CACGAGTTCCGCTCGCACCAC	0.582000												
ATAD5	79915	broad.mit.edu	37	17	29196362	29196362	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:29196362G>A	uc002hfs.1	+	13	3756	c.3410G>A	c.(3409-3411)GGA>GAA	p.G1137E	ATAD5_uc002hft.1_Missense_Mutation_p.G1034E	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1137	ATP (Potential).				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACAGGAGTGGGAAAAACTGCT	0.413000												
CCT6B	10693	broad.mit.edu	37	17	33286636	33286636	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:33286636G>A	uc002hig.2	-	2	265	c.171C>T	c.(169-171)ACC>ACT	p.T57T	CCT6B_uc010ctg.2_Silent_p.T57T|CCT6B_uc010wcc.1_Silent_p.T57T|ZNF830_uc002hih.3_5'Flank	NM_006584	NP_006575	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B	57					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			pancreas(1)	1		Ovarian(249;0.17)				TGCCATCTTTGGTGAGTTTGA	0.413000												
KRTAP4-1	85285	broad.mit.edu	37	17	39341075	39341075	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:39341075G>T	uc002hwe.3	-	1	73	c.32C>A	c.(31-33)TCT>TAT	p.S11Y	KRTAP4-1_uc010cxm.1_RNA	NM_033060	NP_149049	Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	11	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCCCTGGTCAGAGCAGACAGA	0.552000												
HOXB5	3215	broad.mit.edu	37	17	46670652	46670652	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:46670652G>A	uc002inr.2	-	1	452	c.393C>T	c.(391-393)ACC>ACT	p.T131T		NM_002147	NP_002138	P09067	HXB5_HUMAN	homeobox B5	131						nucleus	sequence-specific DNA binding				0						CGTCTATTTCGGTGAAATTGG	0.677000												
CLTC	1213	broad.mit.edu	37	17	57737878	57737878	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:57737878C>T	uc002ixq.1	+	7	1539	c.1096C>T	c.(1096-1098)CGG>TGG	p.R366W	CLTC_uc002ixp.2_Missense_Mutation_p.R366W|CLTC_uc002ixr.1_Missense_Mutation_p.R370W	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	366	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTCTTTGCCCGGAAATTTAA	0.408000			T	ALK|TFE3	ALCL|renal 							
CCDC40	55036	broad.mit.edu	37	17	78039385	78039385	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr17:78039385G>T	uc010dht.2	+	10	1569	c.1542G>T	c.(1540-1542)AGG>AGT	p.R514S	CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.R297S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	514					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCGCACAGGGCGGTGCTGG	0.687000												
TMEM200C	645369	broad.mit.edu	37	18	5890542	5890542	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:5890542C>T	uc002kmx.1	-	1	1562	c.1521G>A	c.(1519-1521)TCG>TCA	p.S507S		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	507	Pro-rich.					integral to membrane					0						GCAGGGGTGGCGAGGGGGAGG	0.756000												
ZNF521	25925	broad.mit.edu	37	18	22807024	22807024	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:22807024G>A	uc002kvk.2	-	4	1105	c.858C>T	c.(856-858)TGC>TGT	p.C286C	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.C286C|ZNF521_uc002kvl.2_Silent_p.C66C	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	286	C2H2-type 7.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGAGCTCGTGGCAGTAGACAC	0.542000			T	PAX5	ALL							
DSG3	1830	broad.mit.edu	37	18	29039945	29039945	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:29039945C>T	uc002kws.2	+	6	764	c.655C>T	c.(655-657)CGT>TGT	p.R219C		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	219	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGGGAAGTCCGTACTTTGAC	0.433000												
MALT1	10892	broad.mit.edu	37	18	56348528	56348528	+	Silent	SNP	T	T	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:56348528T>C	uc002lhm.1	+	2	594	c.336T>C	c.(334-336)GCT>GCC	p.A112A	MALT1_uc002lhn.1_Silent_p.A112A	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	112	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						TCCTGCAGGCTATGGAACACA	0.458000			T	BIRC3	MALT							
SERPINB7	8710	broad.mit.edu	37	18	61468239	61468239	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr18:61468239T>C	uc002ljl.2	+	7	833	c.737T>C	c.(736-738)CTC>CCC	p.L246P	SERPINB7_uc002ljm.2_Missense_Mutation_p.L246P|SERPINB7_uc010xet.1_Missense_Mutation_p.L229P|SERPINB7_uc010dqg.2_Missense_Mutation_p.L246P	NM_001040147	NP_001035237	O75635	SPB7_HUMAN	serine (or cysteine) proteinase inhibitor, clade	246					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			lung(2)|central_nervous_system(1)	3		Esophageal squamous(42;0.129)				GAGAATGACCTCTCTGAAGTA	0.373000												
FBN3	84467	broad.mit.edu	37	19	8155087	8155087	+	Nonsense_Mutation	SNP	G	G	T	rs79073744		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr19:8155087G>T	uc002mjf.2	-	48	6101	c.6080C>A	c.(6079-6081)TCG>TAG	p.S2027*	FBN3_uc002mje.2_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2027	TB 8.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						TTTGGGCACCGAGCACTTCCC	0.622000												
SPAST	6683	broad.mit.edu	37	2	32289152	32289152	+	Silent	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:32289152C>G	uc002roc.2	+	1	473	c.252C>G	c.(250-252)CGC>CGG	p.R84R	SPAST_uc002rod.2_Silent_p.R84R	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	84	Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCTCCCGCGCCCTCATGG	0.711000												
SPAST	6683	broad.mit.edu	37	2	32362007	32362007	+	Silent	SNP	A	A	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:32362007A>G	uc002roc.2	+	11	1604	c.1383A>G	c.(1381-1383)CTA>CTG	p.L461L	SPAST_uc002rod.2_Silent_p.L429L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	spastin isoform 1	461	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAGACGCCTAAAAACTGAAT	0.328000												
DPP10	57628	broad.mit.edu	37	2	116101431	116101431	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:116101431G>C	uc002tla.1	+	3	671	c.214G>C	c.(214-216)GAA>CAA	p.E72Q	DPP10_uc002tlb.1_Missense_Mutation_p.E22Q|DPP10_uc002tlc.1_Missense_Mutation_p.E68Q|DPP10_uc002tle.2_Missense_Mutation_p.E76Q|DPP10_uc002tlf.1_Missense_Mutation_p.E65Q	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	72	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						ATTGTCTTTGGAAGACCTCTT	0.353000												
BIN1	274	broad.mit.edu	37	2	127864487	127864487	+	Silent	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:127864487C>G	uc002tns.1	-	1	378	c.33G>C	c.(31-33)GCG>GCC	p.A11A	BIN1_uc010yzg.1_Silent_p.A11A|BIN1_uc002tnu.1_Silent_p.A11A|BIN1_uc002toa.1_Silent_p.A11A|BIN1_uc002tnt.1_Silent_p.A11A|BIN1_uc002tnv.1_Silent_p.A11A|BIN1_uc002tnw.1_Silent_p.A11A|BIN1_uc002tnx.1_Silent_p.A11A|BIN1_uc002tny.1_Silent_p.A11A|BIN1_uc002tnz.1_Silent_p.A11A|BIN1_uc002tob.1_Silent_p.A11A|BIN1_uc002toc.1_Silent_p.A11A	NM_139343	NP_647593	O00499	BIN1_HUMAN	bridging integrator 1 isoform 1	11	Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				ovary(2)|central_nervous_system(2)|skin(2)|lung(1)	7	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGATCTTTCCCGCCGTCACCC	0.726000												
GPR17	2840	broad.mit.edu	37	2	128408831	128408831	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:128408831G>T	uc010yzn.1	+	4	1217	c.606G>T	c.(604-606)CAG>CAT	p.Q202H	LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.Q202H|GPR17_uc010yzo.1_Missense_Mutation_p.Q174H|GPR17_uc002tpd.2_Missense_Mutation_p.Q174H	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN	G protein-coupled receptor 17 isoform a	202	Extracellular (Potential).					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		AGACCGTGCAGACCAACCACA	0.662000												
NCKAP5	344148	broad.mit.edu	37	2	133540880	133540880	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:133540880C>T	uc002ttp.2	-	14	3878	c.3504G>A	c.(3502-3504)GGG>GGA	p.G1168G	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1168							protein binding				0						TTTCATGTTTCCCTGGCACGG	0.478000												
NCKAP5	344148	broad.mit.edu	37	2	133547605	133547605	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:133547605G>A	uc002ttp.2	-	13	1457	c.1083C>T	c.(1081-1083)CTC>CTT	p.L361L	NCKAP5_uc002ttq.2_Silent_p.L361L	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	361	Ser-rich.						protein binding				0						CCCTTTTCCTGAGGTTCTTCC	0.522000												
NEB	4703	broad.mit.edu	37	2	152369283	152369283	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:152369283G>A	uc010fnx.2	-	133	18398	c.18207C>T	c.(18205-18207)ATC>ATT	p.I6069I	NEB_uc002txr.2_Silent_p.I2492I|NEB_uc002txt.3_Silent_p.I574I	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	6069	Nebulin 166.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCATGAATGATCTCTGGAG	0.398000												
TTN	7273	broad.mit.edu	37	2	179600641	179600641	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:179600641G>A	uc010zfg.1	-	47	11024	c.10800C>T	c.(10798-10800)TCC>TCT	p.S3600S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S261S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	4527							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTGCGTCGGAAATCCTCC	0.438000												
MARS2	92935	broad.mit.edu	37	2	198570228	198570228	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:198570228C>T	uc002uuq.2	+	1	142	c.99C>T	c.(97-99)TCC>TCT	p.S33S	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	33					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)	GTTCGGGCTCCCTCAGTGCCG	0.627000												
AGAP1	116987	broad.mit.edu	37	2	236949436	236949436	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr2:236949436G>A	uc002vvs.2	+	15	2437	c.1842G>A	c.(1840-1842)TCG>TCA	p.S614S	AGAP1_uc002vvt.2_Silent_p.S561S	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	614	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						CCCTGCAGTCGATCCGGAACA	0.622000												
RBCK1	10616	broad.mit.edu	37	20	407987	407987	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:407987C>A	uc002wdp.3	+	9	1753	c.1060C>A	c.(1060-1062)CTA>ATA	p.L354I	RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.L312I|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.L184I	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	354					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCAGCGATTTCTAGACCTGGG	0.498000												
PLCB1	23236	broad.mit.edu	37	20	8696959	8696959	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:8696959G>A	uc002wnb.2	+	13	1302	c.1299G>A	c.(1297-1299)GGG>GGA	p.G433G	PLCB1_uc010zrb.1_Silent_p.G332G|PLCB1_uc002wna.2_Silent_p.G433G|PLCB1_uc002wnc.1_Silent_p.G332G|PLCB1_uc002wnd.1_Silent_p.G10G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	433	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						TGATCTTTGGGGATGCCCTTC	0.463000												
TMEM90B	79953	broad.mit.edu	37	20	24565546	24565546	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:24565546C>T	uc002wtw.1	+	3	1168	c.535C>T	c.(535-537)CGG>TGG	p.R179W		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	179	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0						GATGCCCCCGCGGGACCACCT	0.552000												
TTLL9	164395	broad.mit.edu	37	20	30486296	30486296	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:30486296G>A	uc010gdx.1	+	4	387	c.134G>A	c.(133-135)CGG>CAG	p.R45Q	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.P54P|TTLL9_uc010ztp.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	45	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCATCGATCCGGTTCAAGACC	0.527000												
KIAA0406	9675	broad.mit.edu	37	20	36641604	36641604	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:36641604C>A	uc002xhl.2	-	3	824	c.615G>T	c.(613-615)TTG>TTT	p.L205F	KIAA0406_uc002xhm.2_Missense_Mutation_p.L205F	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	205							binding	p.L205F(1)			0		Myeloproliferative disorder(115;0.00874)				AAGAGGCAAACAAATCCCCCA	0.428000												
WISP2	8839	broad.mit.edu	37	20	43344038	43344038	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:43344038G>A	uc002xmn.2	+	2	360	c.7G>A	c.(7-9)GGC>AGC	p.G3S	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmo.1_Missense_Mutation_p.G3S|WISP2_uc002xmp.2_Missense_Mutation_p.G3S|WISP2_uc002xmq.2_Missense_Mutation_p.G3S	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	3					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGACATGAGAGGCACACCGAA	0.567000												
KCNS1	3787	broad.mit.edu	37	20	43726377	43726377	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:43726377G>C	uc002xnc.2	-	4	1433	c.1036C>G	c.(1036-1038)CTC>GTC	p.L346V	KCNS1_uc002xnd.2_Missense_Mutation_p.L346V	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel	346	Helical; Voltage-sensor; Name=Segment S4; (Potential).					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding				0		Myeloproliferative disorder(115;0.0122)				ATGCGCATGAGGCGGAACACC	0.657000												
BCAS4	55653	broad.mit.edu	37	20	49458427	49458427	+	Missense_Mutation	SNP	C	C	T	rs2145693	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:49458427C>T	uc002xvq.2	+	4	543	c.479C>T	c.(478-480)TCC>TTC	p.S160F	BCAS4_uc002xvr.2_Missense_Mutation_p.S160F|BCAS4_uc002xvs.2_Intron	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4 isoform a	160						cytoplasm					0						GGGCTCCCCTCCTTCAGGAAC	0.672000												
TSHZ2	128553	broad.mit.edu	37	20	51871044	51871044	+	Silent	SNP	C	C	T	rs61758128	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:51871044C>T	uc002xwo.2	+	2	2003	c.1047C>T	c.(1045-1047)AAC>AAT	p.N349N		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	349					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGAACGCCAACTTGC	0.498000												
RAB22A	57403	broad.mit.edu	37	20	56928380	56928380	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr20:56928380G>A	uc002xyz.2	+	4	512	c.250G>A	c.(250-252)GTT>ATT	p.V84I		NM_020673	NP_065724	Q9UL26	RB22A_HUMAN	RAS-related protein RAB-22A	84					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AGCTATAATCGTTTATGATAT	0.363000												
NCAM2	4685	broad.mit.edu	37	21	22656600	22656600	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:22656600G>T	uc002yld.1	+	3	466	c.217G>T	c.(217-219)GGT>TGT	p.G73C	NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.G98C	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	73	Ig-like C2-type 1.|Extracellular (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAAAAGGAAGGTGTTAGGTC	0.408000												
KRTAP19-6	337973	broad.mit.edu	37	21	31914074	31914074	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:31914074A>C	uc002yok.1	-	1	108	c.79T>G	c.(79-81)TGT>GGT	p.C27G		NM_181612	NP_853643	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	27						intermediate filament					0						TAGCCTCCACAGCCACAGCCA	0.512000												
SYNJ1	8867	broad.mit.edu	37	21	34056362	34056362	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:34056362A>C	uc002yqh.2	-	10	1303	c.1303T>G	c.(1303-1305)TTT>GTT	p.F435V	SYNJ1_uc011ads.1_Missense_Mutation_p.F396V|SYNJ1_uc002yqf.2_Missense_Mutation_p.F396V|SYNJ1_uc002yqg.2_Missense_Mutation_p.F396V|SYNJ1_uc002yqi.2_Missense_Mutation_p.F435V	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	396	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						AAGCCAAGAAATGCCTGCACA	0.318000												
PCNT	5116	broad.mit.edu	37	21	47767412	47767412	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr21:47767412G>A	uc002zji.3	+	6	1125	c.1018G>A	c.(1018-1020)GCC>ACC	p.A340T	PCNT_uc002zjj.2_Missense_Mutation_p.A222T|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	340	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					GGAGAAAAACGCCCAGATAGT	0.463000												
PRAME	23532	broad.mit.edu	37	22	22893347	22893347	+	Silent	SNP	G	G	A	rs139977651	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:22893347G>A	uc002zwf.2	-	3	342	c.186C>T	c.(184-186)GAC>GAT	p.D62D	LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.D46D|PRAME_uc010gtr.2_Silent_p.D62D|PRAME_uc002zwg.2_Silent_p.D62D|PRAME_uc002zwh.2_Silent_p.D62D|PRAME_uc002zwi.2_Silent_p.D62D|PRAME_uc002zwj.2_Silent_p.D62D|PRAME_uc002zwk.2_Silent_p.D62D	NM_206956	NP_996839	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	62					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			central_nervous_system(2)	2	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGTGTCTCCCGTCAAAGGCTG	0.622000												
CELSR1	9620	broad.mit.edu	37	22	46760030	46760030	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:46760030C>T	uc003bhw.1	-	34	8898	c.8898G>A	c.(8896-8898)ACG>ACA	p.T2966T		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2966	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGGGAAGACGTGCGCGAGG	0.692000												
BRD1	23774	broad.mit.edu	37	22	50216701	50216701	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:50216701G>T	uc003biv.2	-	1	1752	c.1265C>A	c.(1264-1266)TCC>TAC	p.S422Y	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.S422Y|BRD1_uc011arh.1_Missense_Mutation_p.S422Y|BRD1_uc003biu.3_Missense_Mutation_p.S422Y	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	422					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTGGATGTGGACCTGACCGT	0.552000												
SBF1	6305	broad.mit.edu	37	22	50903026	50903026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:50903026G>A	uc003blh.2	-	14	1768	c.1573C>T	c.(1573-1575)CAG>TAG	p.Q525*	SBF1_uc011arx.1_Nonsense_Mutation_p.Q189*|SBF1_uc003bli.2_Nonsense_Mutation_p.Q526*	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	525					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGCACCCTGCATCTTGGCT	0.697000												
XCR1	2829	broad.mit.edu	37	3	46062775	46062775	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:46062775C>T	uc003cpe.2	-	3	889	c.665G>A	c.(664-666)CGC>CAC	p.R222H	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.R222H	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	222	Cytoplasmic (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CTTGACCGTGCGGTGGCGCCG	0.587000												
GRM2	2912	broad.mit.edu	37	3	51749182	51749182	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:51749182C>T	uc010hlv.2	+	4	1632	c.1393C>T	c.(1393-1395)CGC>TGC	p.R465C	GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	465	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGGCAGTGGGCGCTATCGCTA	0.612000												
FLNB	2317	broad.mit.edu	37	3	58134046	58134046	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:58134046C>T	uc003djj.2	+	35	6007	c.5842C>T	c.(5842-5844)CGA>TGA	p.R1948*	FLNB_uc010hne.2_Nonsense_Mutation_p.R1979*|FLNB_uc003djk.2_Nonsense_Mutation_p.R1937*|FLNB_uc010hnf.2_Nonsense_Mutation_p.R1924*|FLNB_uc003djl.2_Nonsense_Mutation_p.R1768*|FLNB_uc003djm.2_Nonsense_Mutation_p.R1755*|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1948	Filamin 18.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCATCTGGCCGAGACGAGCC	0.607000												
TMF1	7110	broad.mit.edu	37	3	69101186	69101186	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:69101186A>G	uc003dnn.2	-	1	299	c.52T>C	c.(52-54)TCC>CCC	p.S18P	TMF1_uc011bfx.1_Missense_Mutation_p.S18P|hsa-mir-3136|MI0014158_5'Flank	NM_007114	NP_009045	P82094	TMF1_HUMAN	TATA element modulatory factor 1	18					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity				0		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGGGCCTGGGACAGGGCCTGC	0.627000												
VGLL3	389136	broad.mit.edu	37	3	87018199	87018199	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:87018199C>A	uc003dqn.2	-	3	842	c.478G>T	c.(478-480)GCA>TCA	p.A160S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAACAAGGTGCAGGTGGGGGC	0.532000												
COL8A1	1295	broad.mit.edu	37	3	99513916	99513916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:99513916G>A	uc003dtg.1	+	5	1416	c.1171G>A	c.(1171-1173)GAG>AAG	p.E391K	COL8A1_uc003dth.1_Missense_Mutation_p.E391K|COL8A1_uc003dti.1_Missense_Mutation_p.E392K	NM_001850	NP_001841	P27658	CO8A1_HUMAN	alpha 1 type VIII collagen precursor	391	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII					0						TCCTCCAGGAGAGCCAGGCCT	0.612000												
ITGB5	3693	broad.mit.edu	37	3	124492671	124492671	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:124492671G>C	uc003eho.2	-	11	2079	c.1782C>G	c.(1780-1782)TGC>TGG	p.C594W	ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	594	IV.|Extracellular (Potential).|Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)		CTCTGCCCCGGCATGTGCTGA	0.587000												
CPNE4	131034	broad.mit.edu	37	3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:131404727G>A	uc003eok.2	-	6	1018	c.583C>T	c.(583-585)CGA>TGA	p.R195*	CPNE4_uc011blq.1_Nonsense_Mutation_p.R213*|CPNE4_uc003eol.2_Nonsense_Mutation_p.R213*|CPNE4_uc003eom.2_Nonsense_Mutation_p.R195*	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	copine IV	195	C2 2.									upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						ACCTCAGTTCGGTGCACCAGC	0.378000												
DNAJC13	23317	broad.mit.edu	37	3	132166238	132166238	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:132166238G>A	uc003eor.2	+	4	283	c.218G>A	c.(217-219)CGT>CAT	p.R73H	DNAJC13_uc010htq.1_Missense_Mutation_p.R73H	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	73							heat shock protein binding			ovary(1)|breast(1)	2						CTCACATTTCGTAAAGGCAGT	0.368000												
STAG1	10274	broad.mit.edu	37	3	136117672	136117672	+	Splice_Site	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:136117672C>G	uc003era.1	-	22	2489	c.2197_splice	c.e22-1	p.I733_splice	STAG1_uc003erb.1_Splice_Site_p.I733_splice|STAG1_uc003erc.1_Splice_Site_p.I507_splice	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						GCACGACTATCTGTATCAAAT	0.308000												
SLC9A9	285195	broad.mit.edu	37	3	143185988	143185988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr3:143185988C>T	uc003evn.2	-	12	1542	c.1360G>A	c.(1360-1362)GAA>AAA	p.E454K		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	454					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3						GGCTGAGATTCTGTGTTCCGA	0.458000												
KIT	3815	broad.mit.edu	37	4	55594074	55594074	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:55594074C>T	uc010igr.2	+	12	1947	c.1860C>T	c.(1858-1860)GTC>GTT	p.V620V	KIT_uc010igs.2_Silent_p.V616V|KIT_uc010igt.1_Silent_p.V69V	NM_000222	NP_000213	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral	620	Protein kinase.|Cytoplasmic (Potential).				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATGACTGTCGCTGTAAAGA	0.458000		1	Mis|O		GIST|AML|TGCT|mastocytosis|mucosal melanoma	GIST|epithelioma	Piebald trait		Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors			
GPRIN3	285513	broad.mit.edu	37	4	90170778	90170778	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:90170778A>G	uc003hsm.1	-	2	1003	c.484T>C	c.(484-486)TCA>CCA	p.S162P		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	162										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCTATTTGAGGTTCTCTGT	0.517000												
UNC5C	8633	broad.mit.edu	37	4	96137357	96137357	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:96137357T>C	uc003htp.1	-	10	1805	c.1651A>G	c.(1651-1653)AGC>GGC	p.S551G	UNC5C_uc010ilc.1_Missense_Mutation_p.S570G|UNC5C_uc003htq.2_Missense_Mutation_p.S570G	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	551	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATCAGCAAGCTGACTCCTGAA	0.448000												
HHIP	64399	broad.mit.edu	37	4	145568092	145568092	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:145568092C>T	uc003ijs.1	+	1	920	c.265C>T	c.(265-267)CGC>TGC	p.R89C	uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.R89C	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	89						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGGGCTAGGGCGCCTGGAGAA	0.627000												
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:149075976T>G	uc003ilj.3	-	5	2425	c.2091A>C	c.(2089-2091)CCA>CCC	p.P697P	NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.428000												
ODZ3	55714	broad.mit.edu	37	4	183600907	183600907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:183600907C>T	uc003ivd.1	+	7	1452	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	472	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGGCGGCAGGCGAGATCCGTC	0.562000												
ODZ3	55714	broad.mit.edu	37	4	183721189	183721189	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:183721189C>T	uc003ivd.1	+	27	7822	c.7785C>T	c.(7783-7785)GAC>GAT	p.D2595D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2595	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GGTTCGCGGACGTGGAGATGC	0.697000												
TRIML1	339976	broad.mit.edu	37	4	189068199	189068199	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr4:189068199C>G	uc003izm.1	+	6	1195	c.1080C>G	c.(1078-1080)GAC>GAG	p.D360E	TRIML1_uc003izn.1_Missense_Mutation_p.D84E	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	360	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			ovary(1)|pancreas(1)|breast(1)|skin(1)	4		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCTGCAAGGACTCTGTGAGCA	0.537000												
CDH12	1010	broad.mit.edu	37	5	21751951	21751951	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:21751951T>G	uc010iuc.2	-	12	2738	c.2280A>C	c.(2278-2280)GAA>GAC	p.E760D	CDH12_uc011cno.1_Missense_Mutation_p.E720D|CDH12_uc003jgk.2_Missense_Mutation_p.E760D|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	760	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						CCTGGTCGGCTTCTGTGGTGA	0.512000										HNSCC(59;0.17)		
CDH10	1008	broad.mit.edu	37	5	24488107	24488107	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:24488107G>T	uc003jgr.1	-	12	2364	c.2032C>A	c.(2032-2034)CCT>ACT	p.P678T	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	678	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		ATGGCTGCAGGATTCCTCAGG	0.483000										HNSCC(23;0.051)		
CDH9	1007	broad.mit.edu	37	5	26886139	26886139	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:26886139T>G	uc003jgs.1	-	10	1735	c.1566A>C	c.(1564-1566)AAA>AAC	p.K522N	CDH9_uc011cnv.1_Missense_Mutation_p.K115N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	522	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CAAAAAAGAATTTGTGACCTC	0.318000												
CD180	4064	broad.mit.edu	37	5	66480391	66480391	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:66480391C>A	uc003juy.2	-	3	428	c.280G>T	c.(280-282)GAA>TAA	p.E94*		NM_005582	NP_005573	Q99467	CD180_HUMAN	CD180 molecule precursor	94	LRR 2.|Extracellular (Potential).				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			ovary(1)	1		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AAAGTGTCTTCATGTATCCAG	0.338000												
CMYA5	202333	broad.mit.edu	37	5	79027991	79027991	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:79027991G>A	uc003kgc.2	+	2	3475	c.3403G>A	c.(3403-3405)GTG>ATG	p.V1135M		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1135						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCAGTGAAGTGGAGAAGGG	0.413000												
MTX3	345778	broad.mit.edu	37	5	79285047	79285047	+	Silent	SNP	T	T	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:79285047T>C	uc010jag.2	-	4	276	c.249A>G	c.(247-249)GAA>GAG	p.E83E	MTX3_uc010jah.2_Silent_p.E83E|MTX3_uc003kge.3_Silent_p.E22E|MTX3_uc003kgf.1_5'Flank	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	83					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TTGCTGAGAGTTCATAATCAG	0.353000												
SLCO4C1	353189	broad.mit.edu	37	5	101585438	101585438	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:101585438C>T	uc003knm.2	-	9	1811	c.1524G>A	c.(1522-1524)TCG>TCA	p.S508S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family,	508	Kazal-like.|Extracellular (Potential).				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408000												
GFRA3	2676	broad.mit.edu	37	5	137588726	137588726	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:137588726C>G	uc003lcn.2	-	8	1274	c.1134G>C	c.(1132-1134)AGG>AGC	p.R378S	GFRA3_uc003lco.2_Missense_Mutation_p.R347S	NM_001496	NP_001487	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3 preproprotein	378					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGGCTGTGGCCTCACAGCAG	0.532000												
PCDHA5	56143	broad.mit.edu	37	5	140201373	140201373	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:140201373C>T	uc003lhl.2	+	1	13	c.13C>T	c.(13-15)CGG>TGG	p.R5W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R5W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R5W	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	5					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATATTCCCGGAGAGGAAG	0.468000												
PCDHGB1	56104	broad.mit.edu	37	5	140730590	140730590	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:140730590G>T	uc003ljo.1	+	1	763	c.763G>T	c.(763-765)GGA>TGA	p.G255*	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Nonsense_Mutation_p.G255*	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1 isoform 1	255	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTACCGTGGGGAACCTCCGT	0.522000												
ATP10B	23120	broad.mit.edu	37	5	160047768	160047768	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr5:160047768C>A	uc003lym.1	-	15	2849	c.2002G>T	c.(2002-2004)GTG>TTG	p.V668L	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.V226L	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	668	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGCACACAGATGCATCA	0.587000												
F13A1	2162	broad.mit.edu	37	6	6167737	6167737	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:6167737G>T	uc003mwv.2	-	13	1985	c.1862C>A	c.(1861-1863)GCC>GAC	p.A621D	F13A1_uc011dib.1_Missense_Mutation_p.A558D	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	621					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTTTTGCTTGGCCAGAACATC	0.527000												
DDR1	780	broad.mit.edu	37	6	30863265	30863265	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:30863265C>T	uc003nrr.2	+	13	1857	c.1598C>T	c.(1597-1599)GCC>GTC	p.A533V	DDR1_uc010jse.2_Intron|DDR1_uc003nrq.2_Intron|DDR1_uc003nrs.2_Missense_Mutation_p.A533V|DDR1_uc003nrt.2_Intron|DDR1_uc011dms.1_Intron|DDR1_uc003nru.2_Intron|DDR1_uc003nrv.2_Missense_Mutation_p.A533V|DDR1_uc003nrw.1_Missense_Mutation_p.P305S|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	NM_013993	NP_054699	Q08345	DDR1_HUMAN	discoidin domain receptor family, member 1	533	Gly/Pro-rich.|Cytoplasmic (Potential).				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9					Imatinib(DB00619)	CCCACACCCGCCTGGGCCAAA	0.677000												
HLA-C	3107	broad.mit.edu	37	6	31236950	31236950	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:31236950G>C	uc003nsy.2	-	8	1104	c.1097C>G	c.(1096-1098)GCC>GGC	p.A366G	HLA-C_uc011dnj.1_Missense_Mutation_p.A338G|HLA-C_uc003nsx.2_Missense_Mutation_p.A245G|HLA-C_uc003nsz.2_Missense_Mutation_p.A372G|HLA-C_uc010jsl.2_Missense_Mutation_p.P365A|HLA-C_uc003nta.2_Missense_Mutation_p.S350C|HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_Intron	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	366	Cytoplasmic (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex					0						GCTGTCTCAGGCTACAGAACA	0.488000												
GRM4	2914	broad.mit.edu	37	6	34029747	34029747	+	Silent	SNP	G	G	A	rs143657941		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:34029747G>A	uc003oir.3	-	3	965	c.795C>T	c.(793-795)TTC>TTT	p.F265F	GRM4_uc011dsn.1_Silent_p.F265F|GRM4_uc010jvh.2_Silent_p.F265F|GRM4_uc010jvi.2_5'UTR|GRM4_uc003oio.2_5'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.F125F|GRM4_uc003oiq.2_Silent_p.F132F|GRM4_uc011dsm.1_Silent_p.F96F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	265	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TGATCTTGTCGAACTCGCCTG	0.627000												
TCP11	6954	broad.mit.edu	37	6	35086242	35086242	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:35086242A>C	uc003okd.2	-	10	1536	c.1355T>G	c.(1354-1356)GTT>GGT	p.V452G	TCP11_uc003ojz.1_Missense_Mutation_p.V377G|TCP11_uc003oka.2_Missense_Mutation_p.V377G|TCP11_uc003okb.2_Missense_Mutation_p.V376G|TCP11_uc003okc.2_Missense_Mutation_p.V376G|TCP11_uc011dsu.1_Missense_Mutation_p.V434G|TCP11_uc011dsv.1_Missense_Mutation_p.V401G|TCP11_uc011dsw.1_Missense_Mutation_p.V406G	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	t-complex 11 isoform 1	439					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(3)|skin(2)	5						CACACCAAGAACCAAACAGCA	0.458000												
GJB7	375519	broad.mit.edu	37	6	87993986	87993986	+	Missense_Mutation	SNP	T	T	A	rs142594074		TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:87993986T>A	uc003plo.2	-	3	991	c.645A>T	c.(643-645)TTA>TTT	p.L215F		NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	215	Cytoplasmic (Potential).				cell communication	connexon complex|integral to membrane					0		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GAGGTTTTTTTAAATATTTTT	0.418000												
SYNE1	23345	broad.mit.edu	37	6	152652593	152652593	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:152652593G>A	uc010kiw.2	-	78	13829	c.13227C>T	c.(13225-13227)GAC>GAT	p.D4409D	SYNE1_uc003qot.3_Silent_p.D4338D|SYNE1_uc003qou.3_Silent_p.D4409D|SYNE1_uc010kiz.2_Silent_p.D164D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4409	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCATGACCCTGTCTGCGTCCT	0.517000										HNSCC(10;0.0054)		
LPA	4018	broad.mit.edu	37	6	161027567	161027567	+	Silent	SNP	A	A	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:161027567A>G	uc003qtl.2	-	18	2847	c.2727T>C	c.(2725-2727)ACT>ACC	p.T909T		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3417	Kringle 30.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCGCGACGGCAGTCCCTTCTG	0.547000												
DNAH11	8701	broad.mit.edu	37	7	21939738	21939738	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:21939738G>T	uc003svc.2	+	82	13355	c.13324G>T	c.(13324-13326)GGC>TGC	p.G4442C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4442					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						CTTCATGGAGGGTAAGACACC	0.483000									Kartagener_syndrome			
HOXA13	3209	broad.mit.edu	37	7	27238898	27238898	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:27238898C>T	uc003szb.1	-	1	828	c.799G>A	c.(799-801)GAA>AAA	p.E267K	uc003szc.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	homeobox A13	267					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)	1						CCCAAGGGTTCGTGGCGCGAC	0.677000			T	NUP98	AML							
VPS41	27072	broad.mit.edu	37	7	38791835	38791835	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:38791835A>T	uc003tgy.2	-	22	1893	c.1867T>A	c.(1867-1869)TAT>AAT	p.Y623N	VPS41_uc003tgz.2_Missense_Mutation_p.Y598N|VPS41_uc010kxn.2_Missense_Mutation_p.Y534N	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	623	Clathrin.				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						GGTCGATCATATTCAGCATAA	0.423000												
VWC2	375567	broad.mit.edu	37	7	49842380	49842380	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:49842380C>T	uc003tot.1	+	3	1326	c.770C>T	c.(769-771)ACG>ATG	p.T257M		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	257	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0						TGTCCCCAGACGGAGTGTGTG	0.572000												
CUX1	1523	broad.mit.edu	37	7	101559469	101559469	+	Silent	SNP	C	C	T	rs145317607	byFrequency	TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:101559469C>T	uc003uyx.3	+	2	143	c.105C>T	c.(103-105)ATC>ATT	p.I35I	CUX1_uc003uys.3_Silent_p.I46I|CUX1_uc003uyt.2_Silent_p.I46I|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Silent_p.I46I|CUX1_uc003uyv.2_Silent_p.I46I|CUX1_uc003uyu.2_Silent_p.I46I	NM_181552	NP_853530	P39880	CUX1_HUMAN	cut-like homeobox 1 isoform a	35	Potential.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						AGCGGCTTATCGAACAGAGCC	0.532000												
GRM8	2918	broad.mit.edu	37	7	126542634	126542634	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:126542634G>C	uc003vlr.2	-	5	1429	c.1118C>G	c.(1117-1119)TCA>TGA	p.S373*	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Nonsense_Mutation_p.S373*|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Nonsense_Mutation_p.S94*	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	373	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTCCCATGTGATCCTAACTT	0.373000										HNSCC(24;0.065)		
LRRC4	64101	broad.mit.edu	37	7	127669591	127669591	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr7:127669591C>T	uc003vmk.2	-	2	1240	c.1103G>A	c.(1102-1104)CGG>CAG	p.R368Q	SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4 precursor	368	Extracellular (Potential).|Ig-like.					cell junction|integral to membrane|postsynaptic membrane				large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4				Lung(243;0.124)		TTCTGCCATCCGACCCTCAGA	0.607000												
MAK16	84549	broad.mit.edu	37	8	33356104	33356104	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:33356104A>G	uc003xjj.2	+	10	900	c.860A>G	c.(859-861)TAC>TGC	p.Y287C	C8orf41_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	MAK16 homolog	287						nucleolus				ovary(1)	1						GAAATAGAATACGAGCAGGAG	0.458000												
MYST3	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:41790659T>G	uc010lxb.2	-	18	5623	c.5079A>C	c.(5077-5079)CCA>CCC	p.P1693P	MYST3_uc010lxc.2_Silent_p.P1693P|MYST3_uc003xon.3_Silent_p.P1693P	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			ggggagggggtgggggtggag	0.164000												
SNTG1	54212	broad.mit.edu	37	8	51621478	51621478	+	Silent	SNP	T	T	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:51621478T>C	uc010lxy.1	+	18	1595	c.1224T>C	c.(1222-1224)CAT>CAC	p.H408H	SNTG1_uc003xqs.1_Silent_p.H408H|SNTG1_uc010lxz.1_Silent_p.H408H|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	408					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TAGAAAGTCATCTAATGGGAC	0.353000												
NPBWR1	2831	broad.mit.edu	37	8	53853152	53853152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:53853152C>T	uc011ldu.1	+	1	685	c.685C>T	c.(685-687)CGG>TGG	p.R229W		NM_005285	NP_005276	P48145	NPBW1_HUMAN	G protein-coupled receptor 7	229	Cytoplasmic (Potential).				synaptic transmission	plasma membrane	opioid receptor activity|protein binding			ovary(2)|breast(1)	3		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CCTGCTGTGCCGGCTGCATGC	0.672000												
MSC	9242	broad.mit.edu	37	8	72755963	72755963	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:72755963G>C	uc003xyx.1	-	1	769	c.451C>G	c.(451-453)CTG>GTG	p.L151V	uc011lff.1_Intron|uc003xyy.2_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	musculin	151	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CTGGAAGCCAGCCGGAGCGTG	0.652000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ATP6V0D2	245972	broad.mit.edu	37	8	87125937	87125937	+	Splice_Site	SNP	G	G	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:87125937G>T	uc003ydp.1	+	2	200	c.131_splice	c.e2-1	p.D44_splice		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding				0						TTTAATTTCAGACCTGAAAAT	0.313000												
SLC26A7	115111	broad.mit.edu	37	8	92364079	92364079	+	Silent	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:92364079C>A	uc003yex.2	+	11	1460	c.1182C>A	c.(1180-1182)ATC>ATA	p.I394I	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.I394I|SLC26A7_uc003yfa.2_Silent_p.I394I	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	394	Helical; (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTATAGTCATCTATGCAATAG	0.338000												
PKHD1L1	93035	broad.mit.edu	37	8	110520009	110520009	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:110520009A>T	uc003yne.2	+	69	11216	c.11112A>T	c.(11110-11112)GAA>GAT	p.E3704D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3704	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCAAGCAGAATATGAATGGG	0.428000										HNSCC(38;0.096)		
PKHD1L1	93035	broad.mit.edu	37	8	110535556	110535556	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:110535556C>G	uc003yne.2	+	76	12529	c.12425C>G	c.(12424-12426)ACA>AGA	p.T4142R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	4142	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGGAAATACAACAATTCCG	0.418000										HNSCC(38;0.096)		
TMEM71	137835	broad.mit.edu	37	8	133764099	133764099	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr8:133764099G>A	uc003ytp.2	-	4	475	c.246C>T	c.(244-246)TGC>TGT	p.C82C	TMEM71_uc003ytn.2_Silent_p.C82C|TMEM71_uc003yto.2_Silent_p.C82C	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	transmembrane protein 71 isoform 1	82						integral to membrane				ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATCTTTGTCGCACAGGAAGC	0.468000												
COL27A1	85301	broad.mit.edu	37	9	116982078	116982078	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:116982078C>A	uc011lxl.1	+	13	2375	c.2375C>A	c.(2374-2376)CCT>CAT	p.P792H	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	792	Collagen-like 3.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4						CAGGGGTTTCCTGGAGTCTTT	0.527000												
TNC	3371	broad.mit.edu	37	9	117848440	117848440	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:117848440C>T	uc004bjj.3	-	3	1932	c.1570G>A	c.(1570-1572)GGC>AGC	p.G524S	TNC_uc010mvf.2_Missense_Mutation_p.G524S	NM_002160	NP_002151	P24821	TENA_HUMAN	tenascin C precursor	524	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						CAGTCAGGGCCGGTGAAGCCG	0.597000												
DAB2IP	153090	broad.mit.edu	37	9	124329506	124329506	+	Silent	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:124329506C>T	uc004bln.2	+	1	108	c.39C>T	c.(37-39)TAC>TAT	p.Y13Y		NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	disabled homolog 2 interacting protein isoform	Error:Variant_position_missing_in_Q5VWQ8_after_alignment					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			ovary(1)|central_nervous_system(1)	2						ACGACTCCTACGGTAAGACGG	0.577000												
BEND2	139105	broad.mit.edu	37	X	18192243	18192243	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:18192243C>A	uc004cyj.3	-	12	2042	c.1888G>T	c.(1888-1890)GAA>TAA	p.E630*	BEND2_uc010nfb.2_Nonsense_Mutation_p.E539*	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	630				E -> V (in Ref. 2; AAH37301).						ovary(3)|kidney(1)|central_nervous_system(1)	5						TTCCTCTTTTCTCTCATTTTG	0.458000												
TFE3	7030	broad.mit.edu	37	X	48887694	48887694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:48887694C>T	uc004dmb.3	-	10	1941	c.1703G>A	c.(1702-1704)AGC>AAC	p.S568N	TFE3_uc004dmc.3_Missense_Mutation_p.S463N	NM_006521	NP_006512	P19532	TFE3_HUMAN	transcription factor E3	568					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						CATGCTGAAGCTGCTGCGGCG	0.657000			T	SFPQ|ASPSCR1|PRCC|NONO|CLTC	papillary renal|alveolar soft part sarcoma|renal							
HUWE1	10075	broad.mit.edu	37	X	53590779	53590779	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:53590779C>T	uc004dsp.2	-	52	7435	c.7033G>A	c.(7033-7035)GAG>AAG	p.E2345K	HUWE1_uc004dsn.2_Missense_Mutation_p.E1169K	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	2345	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						AGCTCATTCTCAACCTGGAGA	0.448000												
BRWD3	254065	broad.mit.edu	37	X	79978259	79978259	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:79978259C>T	uc004edt.2	-	17	1941	c.1678G>A	c.(1678-1680)GAT>AAT	p.D560N	BRWD3_uc004edo.2_Missense_Mutation_p.D156N|BRWD3_uc004edp.2_Missense_Mutation_p.D389N|BRWD3_uc004edq.2_Missense_Mutation_p.D156N|BRWD3_uc010nmj.1_Missense_Mutation_p.D156N|BRWD3_uc004edr.2_Missense_Mutation_p.D230N|BRWD3_uc004eds.2_Missense_Mutation_p.D156N|BRWD3_uc004edu.2_Missense_Mutation_p.D230N|BRWD3_uc004edv.2_Missense_Mutation_p.D156N|BRWD3_uc004edw.2_Missense_Mutation_p.D156N|BRWD3_uc004edx.2_Missense_Mutation_p.D156N|BRWD3_uc004edy.2_Missense_Mutation_p.D156N|BRWD3_uc004edz.2_Missense_Mutation_p.D230N|BRWD3_uc004eea.2_Missense_Mutation_p.D230N|BRWD3_uc004eeb.2_Missense_Mutation_p.D156N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	560										ovary(4)	4						GGACGATAATCCGTGTGGAAG	0.383000												
ZNF711	7552	broad.mit.edu	37	X	84526509	84526509	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:84526509T>C	uc004eeo.2	+	9	2308	c.1961T>C	c.(1960-1962)TTT>TCT	p.F654S	ZNF711_uc004eep.2_Missense_Mutation_p.F654S|ZNF711_uc004eeq.2_Missense_Mutation_p.F700S|ZNF711_uc011mqy.1_Missense_Mutation_p.F253S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	654	C2H2-type 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						CACTGTGACTTTAAAACATCC	0.393000												
PCDH19	57526	broad.mit.edu	37	X	99662933	99662933	+	Silent	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:99662933G>A	uc010nmz.2	-	1	2339	c.663C>T	c.(661-663)ACC>ACT	p.T221T	PCDH19_uc004efw.3_Silent_p.T221T|PCDH19_uc004efx.3_Silent_p.T221T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	221	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TAAGGCCAACGGTGCCCAGGC	0.607000												
DRP2	1821	broad.mit.edu	37	X	100513426	100513426	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:100513426G>A	uc004egz.2	+	22	2888	c.2519G>A	c.(2518-2520)CGT>CAT	p.R840H	DRP2_uc011mrh.1_Missense_Mutation_p.R762H	NM_001939	NP_001930	Q13474	DRP2_HUMAN	dystrophin related protein 2	840					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			ovary(2)	2						GCCGAGGCCCGTATCCTTCGG	0.602000												
HTR2C	3358	broad.mit.edu	37	X	113965892	113965892	+	Silent	SNP	C	C	A			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:113965892C>A	uc004epu.1	+	4	953	c.225C>A	c.(223-225)ATC>ATA	p.I75I	HTR2C_uc010nqc.1_Silent_p.I75I|HTR2C_uc004epv.1_Silent_p.I75I	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	75	Helical; Name=1; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TCCTTGTGATCATGGCAGTAA	0.448000												
SVEP1	79987	broad.mit.edu	37	9	113233694	113233694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr9:113233694delT	uc010mtz.2	-	16	3285	c.2948delA	c.(2947-2949)AAGfs	p.K983fs	SVEP1_uc010mua.1_Frame_Shift_Del_p.K983fs	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	983					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						GGGGGAAGCCTTTTTTGTTTC	0.423												
FAM48B2	170067	broad.mit.edu	37	X	24331315	24331316	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:24331315_24331316insT	uc011mjw.1	-	1	117_118	c.117_118insA	c.(115-120)AAACTTfs	p.K39fs		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	39_40											0						ATGTCATAAAGTTTTTCCTGCA	0.426												
MACF1	23499	broad.mit.edu	37	1	39799060	39799061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:39799059_39799060A>AG	uc021olw.1	+	0	2119_2120	c.2119_2120A>AG	c.(2119-2121)aggfs	p.R707fs	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2272					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391												
B3GALNT2	148789	broad.mit.edu	37	1	235613601	235613603	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr1:235613600_235613602TGAG>T	uc001hxc.2	-	11	1651_1653	c.1422_1424CTCA>A	c.(1420-1425)cctcag>ccAg	p.Q475del		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	475					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.Q475Q(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CGGAGAATACTGAGGAGAAGACA	0.483												
PBX2	5089	broad.mit.edu	37	6	32156075	32156075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr6:32156074_32156074AT>A	uc003oav.1	-	2	774	c.503_503AT>T	c.(502-504)atcfs	p.I168fs	PBX2_uc003oaw.3_Frame_Shift_Del_p.I168fs	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	168							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TATGTGACGGATCTGGGCAAG	0.592												
CEP164	22897	broad.mit.edu	37	11	117279709	117279710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr11:117279708_117279709T>TC	uc001prc.3	+	28	3859_3860	c.3712_3713T>TC	c.(3712-3714)tccfs	p.S1238fs	CEP164_uc001prb.3_Frame_Shift_Ins_p.S1241fs|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Ins_p.S671fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1238					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAATCTTTTTCCCCGCCTCAC	0.569												
TOP3B	8940	broad.mit.edu	37	22	22323012	22323012	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chr22:22323011_22323011AG>A	uc002zvs.3	-	6	1153	c.718_718CT>T	c.(718-720)tacfs	p.Y240fs	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Frame_Shift_Del_p.Y240fs|TOP3B_uc010gtl.3_Frame_Shift_Del_p.Y240fs	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	240					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCACCCAGTAGGTCTCTGGT	0.507												
FAM48B2	170067	broad.mit.edu	37	X	24331316	24331317	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-A4CS-01A-11D-A24D-08	TCGA-BR-A4CS-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b5d039-432a-461c-9ad4-bc91e5beb02b	b6b05f89-ae1b-4955-bf76-d7928a38844f	g.chrX:24331315_24331316G>GT	uc011mjw.2	-	0	117_118	c.117_118C>AC	c.(115-120)aaacttfs	p.K39fs		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	39										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ATGTCATAAAGTTTTTCCTGCA	0.426												
