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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SESN2	83667	broad.mit.edu	37	1	28598956	28598956	+	Silent	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:28598956C>T	uc001bps.2	+	4	869	c.516C>T	c.(514-516)CTC>CTT	p.L172L		NM_031459	NP_113647	P58004	SESN2_HUMAN	sestrin 2	172					cell cycle arrest	cytoplasm|nucleus				skin(3)|ovary(2)|pancreas(1)|lung(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATGGCTCATCACCAAGG	0.652000													55	93					0	0	0.048971	0	0
TNNI3K	51086	broad.mit.edu	37	1	74833604	74833604	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:74833604T>C	uc001dgf.1	+	13	1328	c.1277T>C	c.(1276-1278)GTG>GCG	p.V426A	TNNI3K_uc001dgc.1_Missense_Mutation_p.V527A|TNNI3K_uc001dgd.2_Missense_Mutation_p.V527A|TNNI3K_uc001dge.1_Missense_Mutation_p.V527A	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	426						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						GGCTCCTATGTGTCTGTTCCA	0.313000													7	301					0	0	0.029380	0	0
LOC200030	200030	broad.mit.edu	37	1	148025816	148025816	+	Nonsense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:148025816G>A	uc001eqf.2	-	7	1071	c.1036C>T	c.(1036-1038)CGA>TGA	p.R346*	LOC200030_uc001eqe.2_5'UTR|LOC200030_uc001eqg.2_5'UTR|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc009wkf.1_RNA|NBPF14_uc001eqq.2_Nonsense_Mutation_p.R6*|NBPF14_uc001eqs.1_5'Flank	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN	hypothetical protein LOC55672	346	Potential.					cytoplasm					0						TTGAACTGTCGCTCATTCCTC	0.527000													36	563					0	0	0.033182	0	0
HRNR	388697	broad.mit.edu	37	1	152192510	152192510	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:152192510C>T	uc001ezt.1	-	3	1671	c.1595G>A	c.(1594-1596)CGA>CAA	p.R532Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	532	5.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCTGTGTCC	0.567000													45	377					0	0	0.033182	0	0
PEAR1	375033	broad.mit.edu	37	1	156880104	156880104	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:156880104G>A	uc001fqj.1	+	14	1873	c.1757G>A	c.(1756-1758)GGC>GAC	p.G586D	PEAR1_uc001fqk.1_Missense_Mutation_p.G211D	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	586	EGF-like 7.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGAATGGGGGCACCTGTCTC	0.632000											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	427					0	0	0.024245	0	0
CR1	1378	broad.mit.edu	37	1	207785157	207785157	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:207785157C>T	uc001hfy.2	+	30	5221	c.5081C>T	c.(5080-5082)ACG>ATG	p.T1694M	CR1_uc001hfx.2_Missense_Mutation_p.T2144M	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1694	Sushi 26.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3						CTGCACTGCACGCCCCAGGGA	0.557000													5	316					0	0	0.021553	0	0
RET	5979	broad.mit.edu	37	10	43609023	43609023	+	Silent	SNP	A	G	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:43609023A>G	uc001jal.2	+	10	1969	c.1779A>G	c.(1777-1779)GGA>GGG	p.G593G	RET_uc001jak.1_Silent_p.G593G|RET_uc010qez.1_Silent_p.G339G	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	593	Extracellular (Potential).		G -> E (in a colorectal cancer sample; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.G593E(1)|p.G592_G607del(1)		thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGTTGGGGGACACGAGCCTG	0.642000		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				7	18					0	0	0.038147	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669755	78669755	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:78669755G>A	uc001jxn.2	-	25	3293	c.3116C>T	c.(3115-3117)GCC>GTC	p.A1039V	KCNMA1_uc001jxj.2_Missense_Mutation_p.A985V|KCNMA1_uc001jxk.1_Missense_Mutation_p.A657V|KCNMA1_uc009xrt.1_Missense_Mutation_p.A830V|KCNMA1_uc001jxl.1_Missense_Mutation_p.A664V|KCNMA1_uc001jxo.2_Missense_Mutation_p.A1022V|KCNMA1_uc001jxm.2_Missense_Mutation_p.A981V|KCNMA1_uc001jxq.2_Missense_Mutation_p.A1011V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1039	Segment S10.|Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACACTGACGGCAAATGCTGT	0.468000													4	83					0	0	0.009096	0	0
CPXM2	119587	broad.mit.edu	37	10	125526579	125526579	+	Silent	SNP	G	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:125526579G>C	uc001lhk.1	-	10	1714	c.1389C>G	c.(1387-1389)CTC>CTG	p.L463L	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	463					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGCCTCCCAGAGCAGCGTGT	0.522000													3	238					0	0	0.004672	0	0
ABTB2	25841	broad.mit.edu	37	11	34176285	34176285	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:34176285G>A	uc001mvl.1	-	15	2401	c.2171C>T	c.(2170-2172)ACA>ATA	p.T724I		NM_145804	NP_665803	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing	724							DNA binding			central_nervous_system(1)|skin(1)	2		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CATGGATTCTGTTCCTCCGTA	0.592000													91	117					0	0	0.048971	0	0
LRP4	4038	broad.mit.edu	37	11	46903301	46903301	+	Silent	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:46903301G>A	uc001ndn.3	-	20	2912	c.2766C>T	c.(2764-2766)GCC>GCT	p.A922A		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	922	Extracellular (Potential).|LDL-receptor class B 9.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		TCTTCATGCCGGCGTCAGCCC	0.498000													4	243					0	0	0.009096	0	0
CTTN	2017	broad.mit.edu	37	11	70261803	70261803	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:70261803A>G	uc001opv.3	+	7	643	c.437A>G	c.(436-438)GAG>GGG	p.E146G	CTTN_uc001opu.2_Missense_Mutation_p.E146G|CTTN_uc001opw.3_Missense_Mutation_p.E146G	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	146	Cortactin 2.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAAGACTGAGAAGCATGCC	0.532000													197	325					0	0	0.048971	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299708	107299708	+	Missense_Mutation	SNP	G	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:107299708G>T	uc010rvp.1	-	8	1280	c.1250C>A	c.(1249-1251)ACA>AAA	p.T417K	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	417							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACTCCATGATGTTAATCTTTC	0.418000													39	484					2.26627e-22	2.79952e-22	0.030466	1	0
LRIG3	121227	broad.mit.edu	37	12	59271321	59271321	+	Silent	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:59271321C>T	uc001sqr.2	-	15	2643	c.2397G>A	c.(2395-2397)TCG>TCA	p.S799S	LRIG3_uc009zqh.2_Silent_p.S739S|LRIG3_uc010ssh.1_RNA	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	799						integral to membrane				skin(3)|ovary(1)	4			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562000													47	68					0	0	0.048971	0	0
NEDD1	121441	broad.mit.edu	37	12	97331097	97331097	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:97331097C>T	uc001teu.3	+	9	1382	c.1043C>T	c.(1042-1044)TCC>TTC	p.S348F	NEDD1_uc001tev.3_Missense_Mutation_p.S348F|NEDD1_uc010svc.1_Missense_Mutation_p.S259F|NEDD1_uc001tew.2_Missense_Mutation_p.S355F|NEDD1_uc001tex.2_Missense_Mutation_p.S259F	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally	348					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol					0						CCTGCCACGTCCATTGCCACA	0.428000													6	266					0	0	0.029380	0	0
NALCN	259232	broad.mit.edu	37	13	101763560	101763560	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:101763560C>T	uc001vox.1	-	19	2399	c.2210G>A	c.(2209-2211)CGC>CAC	p.R737H		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	737	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCAGCATGCGCTGTCGGGT	0.468000													5	260					0	0	0.021553	0	0
ADAM6	8755	broad.mit.edu	37	14	106236010	106236010	+	RNA	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr14:106236010G>A	uc010tyt.1	-	3616		c.57934C>T			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA					Parts of antibodies, mostly variable regions.												0						TTTTGGAGATGGTTTTCTCGA	0.612000													8	494					0	0	0.058154	0	0
TNRC6A	27327	broad.mit.edu	37	16	24826581	24826581	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:24826581C>T	uc002dmm.2	+	19	4900	c.4786C>T	c.(4786-4788)CGT>TGT	p.R1596C	TNRC6A_uc010bxs.2_Missense_Mutation_p.R1343C|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1294C|TNRC6A_uc002dmo.2_Missense_Mutation_p.R1235C|TNRC6A_uc002dmp.2_Missense_Mutation_p.R197C|TNRC6A_uc002dmq.2_Missense_Mutation_p.R263C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448000													58	88					0	0	0.048971	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	C	C	rs148924904		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:7578442T>C	uc002gim.2	-	5	682	c.488A>G	c.(487-489)TAC>TGC	p.Y163C	TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	163	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (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.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622000		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)			129	20					0	0	0.048971	0	0
GLP2R	9340	broad.mit.edu	37	17	9757822	9757822	+	Missense_Mutation	SNP	A	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:9757822A>T	uc002gmd.1	+	5	515	c.515A>T	c.(514-516)TAT>TTT	p.Y172F		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	172	Extracellular (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GTGGATCGTTATGCCTTGCTG	0.552000													90	781					0	0	0.048971	0	0
NEK8	284086	broad.mit.edu	37	17	27065006	27065006	+	Silent	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:27065006C>T	uc002hcp.2	+	7	1059	c.1059C>T	c.(1057-1059)CTC>CTT	p.L353L		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	353						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6	Lung NSC(42;0.0158)					CTGGGCGTCTCATCCTGTGGG	0.701000													40	55					0	0	0.033182	0	0
IMP5	162540	broad.mit.edu	37	17	43923828	43923828	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:43923828G>A	uc010wka.1	+	1	1556	c.1556G>A	c.(1555-1557)CGC>CAC	p.R519H	LOC100128977_uc010wjz.1_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	intramembrane protease 5 precursor	519	Extracellular (Potential).					integral to membrane	aspartic-type endopeptidase activity			pancreas(2)	2	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.148)		GCTGCCTGCCGCCAAGAGCTC	0.622000													5	107					0	0	0.014758	0	0
WNT9B	7484	broad.mit.edu	37	17	44953783	44953783	+	Missense_Mutation	SNP	G	A	A	rs149931425	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:44953783G>A	uc002ikw.1	+	4	810	c.773G>A	c.(772-774)CGC>CAC	p.R258H	WNT9B_uc002ikx.1_Missense_Mutation_p.R258H	NM_003396	NP_003387	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family,	258					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			lung(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCTTGGGCCGCCTAGAGCTG	0.642000													52	80					0	0	0.048971	0	0
C3P1	388503	broad.mit.edu	37	19	10165979	10165979	+	RNA	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:10165979G>A	uc010dwx.1	+	15		c.1842G>A				NR_027300				Synthetic construct DNA, clone: pF1KB7402, Homo sapiens LOC388503 gene, without stop codon, in Flexi system.												0						CACCTCCAAGGGGAACCCAGG	0.592000													15	109					0	0	0.038395	0	0
NLRP12	91662	broad.mit.edu	37	19	54314485	54314485	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:54314485C>T	uc002qch.3	-	3	648	c.428G>A	c.(427-429)CGC>CAC	p.R143H	NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.R143H|NLRP12_uc002qcj.3_Missense_Mutation_p.R143H|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.R143H	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567000													4	159					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:179579856C>T	uc010zfg.1	-	87	22549	c.22325G>A	c.(22324-22326)GGC>GAC	p.G7442D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4103D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8369							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)			GTACTTCTTGCCGCTCCTAAG	0.443000													5	647					0	0	0.014758	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								52	105					0	0	0.048971	0	0
ANKZF1	55139	broad.mit.edu	37	2	220101063	220101063	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:220101063G>A	uc002vkg.2	+	14	2251	c.2077G>A	c.(2077-2079)GCA>ACA	p.A693T	ANKZF1_uc002vkh.2_Missense_Mutation_p.A483T|ANKZF1_uc002vki.2_Missense_Mutation_p.A693T	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing	693						intracellular	zinc ion binding			ovary(2)	2		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGTGGGGCATCCCTCCA	0.577000													5	222					0	0	0.021553	0	0
WDR69	164781	broad.mit.edu	37	2	228750104	228750104	+	Missense_Mutation	SNP	G	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:228750104G>C	uc002vpn.1	+	2	157	c.78G>C	c.(76-78)AAG>AAC	p.K26N	WDR69_uc010zlw.1_Missense_Mutation_p.K11N|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	26										breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GAGAATTAAAGACTAAGTCCA	0.343000													17	218					0	0	0.043863	0	0
IDH3B	3420	broad.mit.edu	37	20	2640677	2640677	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr20:2640677G>A	uc002wgp.2	-	9	923	c.914C>T	c.(913-915)ACG>ATG	p.T305M	IDH3B_uc002wgq.2_Missense_Mutation_p.T305M|IDH3B_uc002wgr.2_Missense_Mutation_p.T153M	NM_006899	NP_008830	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3, beta subunit isoform	305					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding				0					NADH(DB00157)	CAGCCTCACCGTCTCAAAGAC	0.537000													8	327					0	0	0.058154	0	0
LOC96610	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	G	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr22:22661478T>G	uc011aim.1	+	28		c.1702T>G			LOC96610_uc011aiq.1_RNA|LOC96610_uc011aip.1_RNA|LOC96610_uc010gto.2_RNA					Parts of antibodies, mostly variable regions.												0						CAGATGCGTCTGAAGAAACAT	0.488000													4	90					0	0	0.021553	0	0
LOC96610	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr22:22664141G>A	uc011aim.1	+	30		c.1998G>A			LOC96610_uc011aiq.1_RNA					Parts of antibodies, mostly variable regions.												0						AAATTTGAAGGTGCTGTGATT	0.448000													5	165					0	0	0.014758	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316103	38316103	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:38316103G>A	uc003chz.3	+	3	545	c.491G>A	c.(490-492)CGC>CAC	p.R164H	SLC22A13_uc011aym.1_Intron|SLC22A13_uc011ayn.1_Missense_Mutation_p.R164H	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion	164	Cytoplasmic (Potential).					integral to plasma membrane	organic cation transmembrane transporter activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGGATTGGCCGCAAGGCCACA	0.637000													3	57					0	0	0.009096	0	0
ATRIP	84126	broad.mit.edu	37	3	48506335	48506335	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:48506335C>T	uc003ctf.1	+	12	2193	c.2161C>T	c.(2161-2163)CGG>TGG	p.R721W	ATRIP_uc011bbj.1_Missense_Mutation_p.R594W|ATRIP_uc003ctg.1_Missense_Mutation_p.R694W|TREX1_uc010hjy.2_5'UTR|TREX1_uc003ctj.2_5'UTR|TREX1_uc003ctk.2_5'Flank|TREX1_uc010hjz.2_5'Flank|TREX1_uc010hka.2_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	ATR interacting protein isoform 1	721					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGCTGTCTGCGGGACACGGT	0.632000								Other_conserved_DNA_damage_response_genes					4	37					0	0	0.009096	0	0
OR5H6	79295	broad.mit.edu	37	3	97983515	97983515	+	Silent	SNP	T	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:97983515T>C	uc003dsi.1	+	1	387	c.387T>C	c.(385-387)TTT>TTC	p.F129F		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H,	129	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|large_intestine(1)	3						CAGAATGTTTTCTCTTGGCAA	0.368000													26	277					0	0	0.018920	0	0
GPR128	84873	broad.mit.edu	37	3	100352130	100352130	+	Missense_Mutation	SNP	G	A	A	rs143646459		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:100352130G>A	uc003duc.2	+	4	624	c.356G>A	c.(355-357)CGG>CAG	p.R119Q	GPR128_uc011bhc.1_5'Flank	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	119	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						ATGGCAGTCCGGTTGTGCAGT	0.274000													4	95					0	0	0.009096	0	0
IFT122	55764	broad.mit.edu	37	3	129214370	129214370	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:129214370G>A	uc003emm.2	+	18	2334	c.2128G>A	c.(2128-2130)GCC>ACC	p.A710T	IFT122_uc003eml.2_Missense_Mutation_p.A761T|IFT122_uc003emn.2_Missense_Mutation_p.A651T|IFT122_uc003emo.2_Missense_Mutation_p.A599T|IFT122_uc003emp.2_Missense_Mutation_p.A560T|IFT122_uc010htc.2_Missense_Mutation_p.A702T|IFT122_uc011bky.1_Missense_Mutation_p.A501T|IFT122_uc003emq.2_Missense_Mutation_p.A550T|IFT122_uc003emr.2_Missense_Mutation_p.A462T|IFT122_uc011bla.1_Missense_Mutation_p.A483T|IFT122_uc010hte.2_Intron|IFT122_uc003ems.2_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN	WD repeat domain 10 isoform 2	710					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				ovary(1)|skin(1)	2						CCATGAGGCCGCCAAACTGTA	0.512000													4	125					0	0	0.009096	0	0
WDR49	151790	broad.mit.edu	37	3	167223186	167223186	+	Missense_Mutation	SNP	A	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:167223186A>T	uc003fev.1	-	13	2043	c.1737T>A	c.(1735-1737)GAT>GAA	p.D579E	WDR49_uc003feu.1_Missense_Mutation_p.D404E|WDR49_uc011bpd.1_Missense_Mutation_p.D544E|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	579										large_intestine(1)|ovary(1)|skin(1)	3						CTAAATTTATATCTTCTGATG	0.303000													3	99					0	0	0.004672	0	0
PDE6B	5158	broad.mit.edu	37	4	659049	659049	+	Silent	SNP	A	G	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:659049A>G	uc003gap.2	+	19	2252	c.2199A>G	c.(2197-2199)GCA>GCG	p.A733A	PDE6B_uc003gao.3_Silent_p.A733A|PDE6B_uc011buy.1_Silent_p.A454A|PDE6B_uc011buz.1_Silent_p.A165A	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	733					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TCCAGGTCGCACTTCTCGTGG	0.627000													11	43					0	0	0.049695	0	0
SLIT2	9353	broad.mit.edu	37	4	20597443	20597443	+	Silent	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:20597443C>T	uc003gpr.1	+	31	3510	c.3306C>T	c.(3304-3306)TGC>TGT	p.C1102C	SLIT2_uc003gps.1_Silent_p.C1094C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11						CGTGCATATGCCCCGAAGGTT	0.303000													5	215					0	0	0.014758	0	0
LIMCH1	22998	broad.mit.edu	37	4	41646515	41646515	+	Splice_Site	SNP	A	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:41646515A>C	uc003gvu.3	+	10	1026	c.972_splice	c.e10-2	p.E324_splice	LIMCH1_uc003gvv.3_Splice_Site_p.E324_splice|LIMCH1_uc003gvw.3_Splice_Site_p.E324_splice|LIMCH1_uc003gvx.3_Splice_Site_p.R312_splice|LIMCH1_uc003gwe.3_Splice_Site_p.E324_splice|LIMCH1_uc003gvy.3_Splice_Site_p.R153_splice|LIMCH1_uc003gwa.3_Splice_Site_p.E165_splice|LIMCH1_uc003gvz.3_Splice_Site_p.E709_splice|LIMCH1_uc011byu.1_Splice_Site_p.R158_splice|LIMCH1_uc003gwc.3_Splice_Site_p.E170_splice|LIMCH1_uc003gwd.3_Splice_Site_p.R158_splice|LIMCH1_uc011byv.1_Splice_Site_p.E75_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a						actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						CTCCACACTCAGGAGCACCAG	0.672000											OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	9					0	0	0.058154	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256670	140256670	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:140256670G>A	uc003lic.2	+	1	1740	c.1613G>A	c.(1612-1614)CGC>CAC	p.R538H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R538H	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	538	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCCGGC	0.692000													7	212					0	0	0.038147	0	0
TCERG1	10915	broad.mit.edu	37	5	145838701	145838701	+	Silent	SNP	T	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:145838701T>C	uc003lob.2	+	4	733	c.693T>C	c.(691-693)GCT>GCC	p.A231A	TCERG1_uc003loc.2_Silent_p.A231A|TCERG1_uc011dbt.1_Silent_p.A231A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	transcription elongation regulator 1 isoform 1	231	Potential.|Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			aggctcaggctcaggcacaag	0.124000													3	63					0	0	0.004672	0	0
HLA-J	3137	broad.mit.edu	37	6	29977409	29977409	+	Missense_Mutation	SNP	T	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:29977409T>C	uc003rtl.3	+	5	790	c.428T>C	c.(427-429)ATC>ACC	p.I143T	HLA-G_uc011dmb.1_3'UTR|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA					Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038).												0						TGCAAAGGCATCTGAATGTGT	0.512000													3	59					0	0	0.058154	0	0
FLOT1	10211	broad.mit.edu	37	6	30708275	30708275	+	Missense_Mutation	SNP	G	A	A	rs139987312	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:30708275G>A	uc003nrm.2	-	7	732	c.568C>T	c.(568-570)CGG>TGG	p.R190W	FLOT1_uc011dmr.1_Missense_Mutation_p.R142W	NM_005803	NP_005794	O75955	FLOT1_HUMAN	flotillin 1	190						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction					0						TCTCTCACCCGGATCCCAGCA	0.532000													101	138					0	0	0.048971	0	0
FOXP4	116113	broad.mit.edu	37	6	41554783	41554783	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:41554783C>T	uc003oql.2	+	6	1005	c.547C>T	c.(547-549)CTC>TTC	p.L183F	FOXP4_uc003oqm.2_Missense_Mutation_p.L181F|FOXP4_uc003oqn.2_Missense_Mutation_p.L183F	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	forkhead box P4 isoform 1	183	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGCAGCAGCTCCTGCAAAT	0.662000											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	53					0	0	0.047766	0	0
LAMA2	3908	broad.mit.edu	37	6	129475728	129475728	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:129475728G>A	uc003qbn.2	+	8	1211	c.1106G>A	c.(1105-1107)CGT>CAT	p.R369H	LAMA2_uc003qbo.2_Missense_Mutation_p.R369H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	369	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R369L(1)		ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAATATACGTGGAAAGTAC	0.388000													81	107					0	0	0.048971	0	0
MACC1	346389	broad.mit.edu	37	7	20198861	20198861	+	Missense_Mutation	SNP	A	G	G			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:20198861A>G	uc003sus.3	-	5	1432	c.1123T>C	c.(1123-1125)TAT>CAT	p.Y375H	MACC1_uc010kug.2_Missense_Mutation_p.Y375H	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	375					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						TTGGGTCCATAAATTCCAATT	0.398000													66	90					0	0	0.048971	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	Missense_Mutation	SNP	A	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35131480A>T	uc003teq.1	-	20	2213	c.1106T>A	c.(1105-1107)CTT>CAT	p.L369H	DPY19L2P1_uc003tep.1_RNA|DPY19L2P1_uc010kwz.1_RNA					RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;												0						ATCTTCGTAAAGTGGATGATT	0.408000													4	131					0	0	0.029380	0	0
TBX20	57057	broad.mit.edu	37	7	35242048	35242048	+	Missense_Mutation	SNP	A	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35242048A>C	uc011kas.1	-	8	1349	c.1338T>G	c.(1336-1338)TTT>TTG	p.F446L		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	446						nucleus	DNA binding			central_nervous_system(1)	1						AGAGTCATACAAATGGCGTCA	0.502000													13	21					0	0	0.013537	0	0
EFHA2	286097	broad.mit.edu	37	8	16884850	16884850	+	Missense_Mutation	SNP	A	C	C			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr8:16884850A>C	uc003wxd.2	+	1	104	c.62A>C	c.(61-63)CAC>CCC	p.H21P		NM_181723	NP_859074	Q86XE3	EFHA2_HUMAN	EF-hand domain family, member A2	21						integral to membrane	calcium ion binding			skin(1)	1				Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239)		CTCTGCGCTCACCAGCCCCTC	0.682000													5	20					0	0	0.069288	0	0
CSPP1	79848	broad.mit.edu	37	8	68028332	68028332	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr8:68028332G>A	uc003xxi.2	+	13	1592	c.1561G>A	c.(1561-1563)GCC>ACC	p.A521T	CSPP1_uc003xxg.1_Missense_Mutation_p.A513T|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A486T|CSPP1_uc003xxk.2_Missense_Mutation_p.A192T	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	centrosome spindle pole associated protein 1	521	Pro-rich.					centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTCAGCAGCGCCCTTGGTGA	0.443000													9	244					0	0	0.058154	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507277	130507277	+	Missense_Mutation	SNP	C	T	T			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:130507277C>T	uc004bsc.2	-	7	1508	c.1366G>A	c.(1366-1368)GCC>ACC	p.A456T	SH2D3C_uc010mxo.2_Missense_Mutation_p.A296T|SH2D3C_uc004bry.2_Missense_Mutation_p.A298T|SH2D3C_uc004brz.3_Missense_Mutation_p.A102T|SH2D3C_uc011mak.1_Missense_Mutation_p.A102T|SH2D3C_uc004bsa.2_Missense_Mutation_p.A299T|SH2D3C_uc004bsb.2_Missense_Mutation_p.A388T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C isoform a	456					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			ovary(1)	1						GTCTTTGGGGCACTTCCGGGA	0.662000													24	171					0	0	0.069288	0	0
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:19369427G>A	uc004czg.3	+	4	465	c.320G>A	c.(319-321)GGC>GAC	p.G107D	PDHA1_uc004czh.3_Missense_Mutation_p.G142D|PDHA1_uc011mjc.1_Missense_Mutation_p.G111D|PDHA1_uc011mjd.1_Missense_Mutation_p.G104D|PDHA1_uc010nfk.2_Missense_Mutation_p.G104D	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507000													4	183					0	0	0.009096	0	0
RGAG1	57529	broad.mit.edu	37	X	109695813	109695813	+	Silent	SNP	G	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:109695813G>A	uc004eor.1	+	3	2214	c.1968G>A	c.(1966-1968)CCG>CCA	p.P656P	RGAG1_uc011msr.1_Silent_p.P656P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	656										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TGTCCATGCCGCAAATGACAG	0.502000													4	166					0	0	0.009096	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323365	135323365	+	Missense_Mutation	SNP	T	A	A			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:135323365T>A	uc004ezt.2	-	5	580	c.489A>T	c.(487-489)AGA>AGT	p.R163S	MAP7D3_uc004ezs.2_Missense_Mutation_p.R162S|MAP7D3_uc011mwc.1_Missense_Mutation_p.R145S|MAP7D3_uc010nsa.1_Missense_Mutation_p.R162S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	163						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACCATCTTTTTTGCT	0.323000													84	118					0	0	0.048971	0	0
OR2T1	26696	broad.mit.edu	37	1	248570073	248570073	+	Frame_Shift_Del	DEL	C	-	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:248570073delC	uc010pzm.1	+	1	778	c.778delC	c.(778-780)CCTfs	p.P260fs		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	260	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507													36	166	---	---	---	---					
C10orf18	54906	broad.mit.edu	37	10	5784139	5784140	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:5784139_5784140delAA	uc001iij.2	+	14	3032_3033	c.2407_2408delAA	c.(2407-2409)AATfs	p.N803fs	C10orf18_uc001iik.2_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	hypothetical protein LOC54906	803										ovary(1)|central_nervous_system(1)	2						GTTTTACAGCAATCAGAACAAA	0.396													70	220	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:131241030_131241035delGGCGAC	uc003vqw.3	-	1	342_347	c.84_89delGTCGCC	c.(82-90)CCGTCGCCC>CCC	p.28_30PSP>P	PODXL_uc003vqx.3_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	28_30	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.573													4	6	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76944356	76944356	+	Frame_Shift_Del	DEL	T	-	-			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08									Somatic	Phase_I	Capture				Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:76944356delT	uc004ecp.3	-	7	781	c.549delA	c.(547-549)AAAfs	p.K183fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.K145fs|ATRX_uc004eco.3_5'UTR|ATRX_uc004ecr.2_Frame_Shift_Del_p.K144fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K183fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K128fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	183	ADD.|GATA-type; atypical.		Missing (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AAATGGAATCTTTTTGAAAAT	0.308			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						157	237	---	---	---	---					
