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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RDH16	8608	broad.mit.edu	37	12	57351084	57351084	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:57351084G>T	ENST00000398138.3	-	1	1019	c.163C>A	c.(163-165)Cgg>Agg	p.R55R	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	55					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GCCAGCACCCGCAAGCCTCGT	0.587000													10	33					1.08611e-07	2.41906e-07	0.000978	1	0
RPL10	6134	broad.mit.edu	37	X	153628946	153628946	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153628946C>G	ENST00000424325.2	+	6	659	c.471C>G	c.(469-471)ttC>ttG	p.F157L	RPL10_ENST00000406022.2_Missense_Mutation_p.F106L|RPL10_ENST00000369817.2_Missense_Mutation_p.F157L	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	157				F -> L (in Ref. 8; BAD97029).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCCAAGTTCAAGTTTCCTG	0.562000													3	35					0	0	0.004672	0	0
ASNA1	439	broad.mit.edu	37	19	12856229	12856229	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:12856229C>T	ENST00000591090.1	+	4	450	c.348C>T	c.(346-348)gaC>gaT	p.D116D	ASNA1_ENST00000357332.3_Silent_p.D116D			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	116					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	AGCTGCCTGACGAGTTCTTCG	0.612000													8	20					0	0	0.003080	0	0
PTPN13	5783	broad.mit.edu	37	4	87692491	87692491	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:87692491G>A	ENST00000436978.1	+	31	5466	c.4986G>A	c.(4984-4986)ggG>ggA	p.G1662G	PTPN13_ENST00000316707.6_Silent_p.G1466G|PTPN13_ENST00000511467.1_Silent_p.G1662G|PTPN13_ENST00000427191.2_Silent_p.G1638G|PTPN13_ENST00000411767.2_Silent_p.G1657G	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1657						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGCAGTGGGAGTGGAGAAG	0.453000													4	4					0	0	0.000602	0	0
SORL1	6653	broad.mit.edu	37	11	121384941	121384941	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:121384941C>T	ENST00000260197.7	+	8	1251	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	374					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATTTATACATCTCAGAGGCAG	0.507000													6	75					0	0	0.001984	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380219	30380219	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:30380219A>T	ENST00000493196.1	-	4	688	c.588T>A	c.(586-588)caT>caA	p.H196Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	196										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGTTATAGATATGATGGCTGT	0.458000													7	59					0	0	0.003080	0	0
NCAN	1463	broad.mit.edu	37	19	19338829	19338829	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:19338829G>C	ENST00000252575.5	+	8	2443	c.2400G>C	c.(2398-2400)ggG>ggC	p.G800G	NCAN_ENST00000538881.1_Silent_p.G251G	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	800					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCCCCTGGGGAGCCCTGGAG	0.567000													11	136					0	0	0.000978	0	0
PPIH	10465	broad.mit.edu	37	1	43124905	43124905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:43124905C>G	ENST00000304979.3	+	3	160	c.138C>G	c.(136-138)ttC>ttG	p.F46L	PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372549.1_Missense_Mutation_p.F20L|PPIH_ENST00000372550.1_5'UTR	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	46	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TCAGGCAGTTCTGCACCGGAG	0.483000													30	120					0	0	0.002836	0	0
CNEP1R1	255919	broad.mit.edu	37	16	50063658	50063658	+	Silent	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:50063658C>G	ENST00000458059.3	+	4	1077	c.171C>G	c.(169-171)gtC>gtG	p.V57V	CNEP1R1_ENST00000427478.2_Silent_p.V40V|CNEP1R1_ENST00000565556.1_Silent_p.V8V|CNEP1R1_ENST00000562576.1_Silent_p.V40V	NM_153261.4	NP_694993.2	Q8N9A8	TM188_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	40						integral to membrane											TGGTATCTGTCTGTACAGCTA	0.338000													3	35					0	0	0.000602	0	0
PIK3CB	5291	broad.mit.edu	37	3	138374244	138374244	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:138374244T>A	ENST00000477593.1	-	23	3273	c.3200A>T	c.(3199-3201)gAc>gTc	p.D1067V	PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V|PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	1067	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1067V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCTGTAGTCTTTCCGAAC	0.408000													37	63					0	0	0.005524	0	0
SON	6651	broad.mit.edu	37	21	34923613	34923613	+	Silent	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:34923613T>A	ENST00000356577.4	+	3	2551	c.2076T>A	c.(2074-2076)ccT>ccA	p.P692P	SON_ENST00000381679.4_Silent_p.P692P|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.P692P|SON_ENST00000290239.6_Silent_p.P692P	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	692					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGGAGCTGCCTACTACATTAG	0.512000													16	56					0	0	0.004990	0	0
TRIM42	287015	broad.mit.edu	37	3	140406956	140406956	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:140406956G>T	ENST00000286349.3	+	3	1623	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	478	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGTGCCCTTGGACTTTGTTGA	0.602000													11	22					5.50884e-06	1.1997e-05	0.001368	1	0
HIRA	7290	broad.mit.edu	37	22	19393354	19393354	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr22:19393354C>T	ENST00000263208.5	-	5	608	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	HIRA_ENST00000546308.1_Missense_Mutation_p.V74M|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.V118M|HIRA_ENST00000541063.1_Missense_Mutation_p.V74M	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	118					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CACTGCTCCACATTGGCAAGC	0.602000													5	32					0	0	0.001984	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422042	1422042	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:1422042G>C	ENST00000270349.9	-	5	868	c.741C>G	c.(739-741)gtC>gtG	p.V247V	SLC6A3_ENST00000453492.2_Silent_p.V247V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	247					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GCAGCACGATGACCAGCACCA	0.647000													7	88					0	0	0.001984	0	0
TRIO	7204	broad.mit.edu	37	5	14508431	14508431	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:14508431G>C	ENST00000344204.4	+	57	9218	c.9194G>C	c.(9193-9195)aGa>aCa	p.R3065T	TRIO_ENST00000344135.5_Missense_Mutation_p.R564T|TRIO_ENST00000537187.1_Missense_Mutation_p.R2889T	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3065					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GACACGTCCAGACTGACTTCC	0.592000													4	67					0	0	0.000248	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37347201	37347201	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:37347201G>A	ENST00000233057.4	-	13	1471	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	EIF2AK2_ENST00000405334.1_Silent_p.G342G|EIF2AK2_ENST00000395127.2_Silent_p.G383G	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	383	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTAGTTTCTCGCCTCTTCTTT	0.343000													7	33					0	0	0.001984	0	0
RFC1	5981	broad.mit.edu	37	4	39310409	39310409	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:39310409C>G	ENST00000381897.1	-	13	1865	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	RFC1_ENST00000349703.2_Missense_Mutation_p.E578Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	578					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTTGTTTTCACTGCTGTCA	0.463000													26	131					0	0	0.004656	0	0
CALCB	797	broad.mit.edu	37	11	15098881	15098881	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:15098881C>T	ENST00000523376.1	+	9	1569	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CALCB_ENST00000533448.1_Missense_Mutation_p.R92W|CALCB_ENST00000324229.6_Missense_Mutation_p.R92W			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	92					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGTGACTCATCGGCTGGCAGG	0.567000													6	11					0	0	0.001168	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000485	73000485	+	Silent	SNP	C	C	T	rs147097201		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:73000485C>T	ENST00000322038.5	+	2	3572	c.2988C>T	c.(2986-2988)ctC>ctT	p.L996L	TSHZ1_ENST00000580243.1_Silent_p.L1041L	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1041						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AATGTAAGCTCTGCAACCGGA	0.527000													20	39					0	0	0.001882	0	0
HM13	81502	broad.mit.edu	37	20	30154066	30154066	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:30154066G>A	ENST00000335574.5	+	11	1126	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	HM13_ENST00000376127.3_Silent_p.A292A|HM13_ENST00000340852.5_Silent_p.A334A|HM13_ENST00000398174.3_Silent_p.A334A|HM13_ENST00000492709.1_3'UTR	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	334					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCCTGGTGGCGCTGGCCAAGG	0.612000													10	107					0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7578549	7578549	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:7578549G>A	ENST00000420246.2	-	5	513	c.381C>T	c.(379-381)tcC>tcT	p.S127S	TP53_ENST00000413465.2_Silent_p.S127S|TP53_ENST00000445888.2_Silent_p.S127S|TP53_ENST00000359597.4_Silent_p.S127S|TP53_ENST00000455263.2_Silent_p.S127S|TP53_ENST00000269305.4_Silent_p.S127S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TGAGGGCAGGGGAGTACTGTA	0.552000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			10	11					0	0	0.006214	0	0
BCOR	54880	broad.mit.edu	37	X	39937101	39937101	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:39937101C>G	ENST00000342274.4	-	2	444	c.82G>C	c.(82-84)Gac>Cac	p.D28H	BCOR_ENST00000378455.4_Missense_Mutation_p.D28H|BCOR_ENST00000378444.4_Missense_Mutation_p.D28H|BCOR_ENST00000397354.3_Missense_Mutation_p.D28H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	28					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATTCACCTGTCTTCGCTCGCC	0.627000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						18	9					0	0	0.008871	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909570	182909570	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:182909570C>T	ENST00000367547.3	-	3	900	c.664G>A	c.(664-666)Gag>Aag	p.E222K	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E103K|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	294										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCCAAAATCTCATCAACCAAA	0.403000													10	76					0	0	0.008291	0	0
FAM49A	81553	broad.mit.edu	37	2	16734259	16734259	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:16734259G>C	ENST00000381323.3	-	12	1137	c.917C>G	c.(916-918)aCa>aGa	p.T306R	FAM49A_ENST00000406434.1_Missense_Mutation_p.T306R|FAM49A_ENST00000355549.2_Missense_Mutation_p.T306R	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	306						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CAAGTGCTTTGTAGTGAACCT	0.438000													8	44					0	0	0.008291	0	0
TCF21	6943	broad.mit.edu	37	6	134210564	134210564	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:134210564A>G	ENST00000367882.4	+	1	289	c.29A>G	c.(28-30)gAg>gGg	p.E10G	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.E10G	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	10					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGCGATGTGGAGGACCTTCAA	0.532000													6	60					0	0	0.001168	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587134	42587134	+	Silent	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587134C>G	ENST00000289957.2	+	5	812	c.684C>G	c.(682-684)gtC>gtG	p.V228V		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	228					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATTCCTTCGTCCTGAGACGCC	0.478000													28	57					0	0	0.005443	0	0
OR2L3	391192	broad.mit.edu	37	1	248224417	248224417	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:248224417C>T	ENST00000359959.3	+	1	434	c.434C>T	c.(433-435)aCa>aTa	p.T145I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTGATGATAACAGGGTCTTGG	0.423000													11	124					0	0	0.001368	0	0
RAPSN	5913	broad.mit.edu	37	11	47464319	47464319	+	Silent	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:47464319G>C	ENST00000298854.2	-	3	792	c.579C>G	c.(577-579)gtC>gtG	p.V193V	RAPSN_ENST00000529341.1_Silent_p.V193V|RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000352508.3_Silent_p.V193V	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	193					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CATAGTTGTTGACAAGCTCTG	0.612000													13	26					0	0	0.002450	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952308	119952308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:119952308C>G	ENST00000307142.4	+	4	2574	c.2378C>G	c.(2377-2379)cCc>cGc	p.P793R	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P793R|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P793R|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	793	Pro-rich.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTGCCTTCCCCACATCCAAC	0.567000													4	61					0	0	0.000248	0	0
GPSM2	29899	broad.mit.edu	37	1	109465042	109465042	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:109465042A>G	ENST00000406462.1	+	14	2217	c.1444A>G	c.(1444-1446)Atc>Gtc	p.I482V	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.I482V			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	482					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		ATTTTAGAAAATCAGTGCAGA	0.318000													16	19					0	0	0.003163	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													3	22					0	0	0.004672	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090384	23090384	+	RNA	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr22:23090384C>T	ENST00000390311.2	+	0	361																											TACTGTCTATCAGCAGACAGC	0.522000													26	41					0	0	0.003755	0	0
NAPRT1	93100	broad.mit.edu	37	8	144658293	144658293	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:144658293G>A	ENST00000449291.2	-	8	1356	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	NAPRT1_ENST00000276844.7_Silent_p.V354V|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Silent_p.V354V|NAPRT1_ENST00000426292.3_Silent_p.V354V|NAPRT1_ENST00000460623.1_5'UTR			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	354					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTTGTTGCTGACTACGATGA	0.672000													12	40					0	0	0.001855	0	0
ROCK2	9475	broad.mit.edu	37	2	11347878	11347878	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:11347878C>T	ENST00000315872.6	-	20	2971	c.2523G>A	c.(2521-2523)ttG>ttA	p.L841L	ROCK2_ENST00000401753.1_Silent_p.L598L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	841					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTGTTTTTCCAAGTTCATTT	0.303000													5	27					0	0	0.000602	0	0
C10orf67	256815	broad.mit.edu	37	10	23633575	23633575	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:23633575G>T	ENST00000323327.4	-	1	199	c.132C>A	c.(130-132)acC>acA	p.T44T	RP11-371A19.2_ENST00000443224.1_RNA	NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	44										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						CCCGCAGCTCGGTGGCCTTGG	0.597000													3	5					0.004672	0.00963907	0.004672	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	44					0	0	0.001984	0	0
OR4K17	390436	broad.mit.edu	37	14	20585923	20585923	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20585923C>G	ENST00000315543.4	+	1	358	c.358C>G	c.(358-360)Cag>Gag	p.Q120E		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTTAAAAAAGCAGAAGGTAAT	0.413000													45	78					0	0	0.003214	0	0
RARA	5914	broad.mit.edu	37	17	38508322	38508322	+	Splice_Site	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:38508322G>A	ENST00000254066.5	+	5	1085	c.630_splice	c.e5+1	p.T210_splice	RARA_ENST00000425707.3_Splice_Site_p.T113_splice|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Splice_Site_p.T210_splice|RARA_ENST00000394086.3_Splice_Site_p.T226_splice|RARA_ENST00000394081.3_Splice_Site_p.T205_splice	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	210	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AATACACTACGGTATGGCTTT	0.632000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								4	4					0	0	0.000248	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													4	16					0	0	0.000602	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407893	75407893	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:75407893G>A	ENST00000394810.2	-	4	1666	c.1517C>T	c.(1516-1518)cCa>cTa	p.P506L	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P282L|SYNPO2L_ENST00000372872.4_Missense_Mutation_p.P506L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	506	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAAGGGGGGTGGGGCGGGGCT	0.677000													3	8					0	0	0.004672	0	0
POLK	51426	broad.mit.edu	37	5	74892047	74892047	+	Splice_Site	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr5:74892047G>A	ENST00000241436.4	+	13	1701	c.1528_splice	c.e13-1	p.G510_splice	POLK_ENST00000508526.1_Splice_Site_p.G312_splice|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Splice_Site_p.G312_splice|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Splice_Site_p.G420_splice	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	510					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TTTAATTTAGGTGTTCGGATA	0.373000								DNA polymerases (catalytic subunits)					8	12					0	0	0.006214	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													7	28					0	0	0.003080	0	0
GAPDH	2597	broad.mit.edu	37	12	6646508	6646508	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:6646508C>T	ENST00000229239.5	+	7	1143	c.477C>T	c.(475-477)ccC>ccT	p.P159P	GAPDH_ENST00000396856.1_Silent_p.P84P|GAPDH_ENST00000396858.1_Silent_p.P117P|GAPDH_ENST00000396861.1_Silent_p.P159P|GAPDH_ENST00000396859.1_Silent_p.P159P	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	159					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GCTTAGCACCCCTGGCCAAGG	0.577000													15	39					0	0	0.006122	0	0
SOAT2	8435	broad.mit.edu	37	12	53516948	53516948	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr12:53516948C>T	ENST00000301466.3	+	13	1380	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	440					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCTTCTGCTTCGTCCTGGGGT	0.592000													14	37					0	0	0.002450	0	0
NDRG3	57446	broad.mit.edu	37	20	35312834	35312834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:35312834G>A	ENST00000373803.2	-	6	421	c.365C>T	c.(364-366)cCt>cTt	p.P122L	NDRG3_ENST00000349004.1_Missense_Mutation_p.P122L|NDRG3_ENST00000373773.3_Missense_Mutation_p.P27L|NDRG3_ENST00000540765.1_Missense_Mutation_p.P18L|NDRG3_ENST00000359675.2_Missense_Mutation_p.P110L			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	122				P -> S (in Ref. 2; AAK34944).	cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GGTAAGAACAGGAGGCAGCAT	0.418000													7	38					0	0	0.006214	0	0
MC2R	4158	broad.mit.edu	37	18	13885087	13885087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr18:13885087A>G	ENST00000327606.3	-	2	611	c.431T>C	c.(430-432)aTg>aCg	p.M144T		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	144					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTGCGGCGCATGGTCACGAT	0.582000													20	21					0	0	0.001523	0	0
FABP2	2169	broad.mit.edu	37	4	120243207	120243207	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:120243207C>T	ENST00000274024.3	-	1	338	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	17							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TTTCCATGAACTTGTCATAGT	0.393000													27	132					0	0	0.002096	0	0
NHLRC3	387921	broad.mit.edu	37	13	39618272	39618272	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr13:39618272C>G	ENST00000379600.3	+	5	954	c.632C>G	c.(631-633)gCt>gGt	p.A211G	NHLRC3_ENST00000379599.2_Missense_Mutation_p.A144G|NHLRC3_ENST00000470258.1_Missense_Mutation_p.A14G	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	211						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACAGGGCCTGCTAAGTTCAAC	0.403000													69	80					0	0	0.003610	0	0
LRPPRC	10128	broad.mit.edu	37	2	44204310	44204310	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:44204310T>C	ENST00000260665.7	-	4	632	c.575A>G	c.(574-576)aAc>aGc	p.N192S	LRPPRC_ENST00000409659.1_Missense_Mutation_p.N192S|LRPPRC_ENST00000409946.1_Missense_Mutation_p.N192S	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	192					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGTTGAATGTTTGCTTCCTC	0.289000													25	29					0	0	0.005443	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826614	34826614	+	Silent	SNP	C	C	T	rs149495470	by1000genomes	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:34826614C>T	ENST00000192788.5	+	14	2652	c.2481C>T	c.(2479-2481)cgC>cgT	p.R827R	UHRF1BP1_ENST00000452449.2_Silent_p.R827R	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	827										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCATGTCCGCGTGAGGCTTG	0.527000													29	101					0	0	0.002445	0	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GAGGGCAGGGGAGTACTGTAG	0.552000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			10	10					0	0	0.006214	0	0
TMEM187	8269	broad.mit.edu	37	X	153247560	153247560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:153247560G>C	ENST00000369982.4	+	2	794	c.47G>C	c.(46-48)gGt>gCt	p.G16A		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	16						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGTGGCCGGTGGCCTCTGT	0.647000													14	10					0	0	0.002450	0	0
POLR1A	25885	broad.mit.edu	37	2	86255166	86255166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:86255166G>A	ENST00000263857.6	-	33	5282	c.4904C>T	c.(4903-4905)gCg>gTg	p.A1635V	POLR1A_ENST00000409681.1_Missense_Mutation_p.A1574V			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1635					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGGTCGACCGCGATGCCTGT	0.542000													8	28					0	0	0.008291	0	0
AUP1	550	broad.mit.edu	37	2	74754072	74754072	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74754072T>C	ENST00000377526.3	-	11	1501	c.1192A>G	c.(1192-1194)Aga>Gga	p.R398G		NM_181575.3	NP_853553.1	Q9Y679	AUP1_HUMAN	ancient ubiquitous protein 1	464	CUE.					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						CCTCACCTTCTTGCGTATTCA	0.507000													32	55					0	0	0.004289	0	0
SOBP	55084	broad.mit.edu	37	6	107956480	107956480	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:107956480A>G	ENST00000317357.5	+	6	3091	c.2432A>G	c.(2431-2433)gAc>gGc	p.D811G	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	811							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AACCCCGCGGACGAGGACCAT	0.647000													16	46					0	0	0.004990	0	0
PRKCG	5582	broad.mit.edu	37	19	54395868	54395868	+	Silent	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr19:54395868G>A	ENST00000263431.3	+	7	1074	c.792G>A	c.(790-792)tcG>tcA	p.S264S	PRKCG_ENST00000536044.1_Silent_p.S264S|PRKCG_ENST00000540413.1_Silent_p.S264S|PRKCG_ENST00000542049.1_Silent_p.S151S	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	264					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTGGCGTCTCGGAGCTGCTCA	0.642000													7	9					0	0	0.001984	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704324	47704324	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:47704324T>C	ENST00000397708.1	-	2	1131	c.877A>G	c.(877-879)Agg>Ggg	p.R293G	MCM3AP_ENST00000291688.1_Missense_Mutation_p.R293G			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	293					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTCCTTCCTTTTCAGTCCT	0.572000													31	64					0	0	0.002836	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174671345	174671345	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:174671345A>T	ENST00000251507.4	+	17	2294	c.2120A>T	c.(2119-2121)aAg>aTg	p.K707M	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.K33M|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.K14M|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.K34M	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	707	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTTACTGCCAAGTTCCCACTC	0.428000													7	52					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152426612	152426612	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:152426612A>C	ENST00000427231.2	-	109	17615	c.17413T>G	c.(17413-17415)Tac>Gac	p.Y5805D	NEB_ENST00000397345.3_Missense_Mutation_p.Y5805D|NEB_ENST00000172853.10_Missense_Mutation_p.Y4104D|NEB_ENST00000409198.1_Missense_Mutation_p.Y4104D|NEB_ENST00000604864.1_Missense_Mutation_p.Y5805D|NEB_ENST00000603639.1_Missense_Mutation_p.Y5805D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5824					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			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCAGTTCGTAGGCCTTCTTG	0.507000													2	9					0	0	0.004672	0	0
KPRP	448834	broad.mit.edu	37	1	152732431	152732431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr1:152732431G>A	ENST00000368773.1	+	2	425	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	KPRP_ENST00000606109.1_Missense_Mutation_p.E123K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGCAGTGCGAAGCGTCACA	0.493000													57	116					0	0	0.003610	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													4	16					0.000602214	0.00129708	0.000602	1	0
OR11H6	122748	broad.mit.edu	37	14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	rs146448571		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428000													10	81					0	0	0.008291	0	0
MUC5B	727897	broad.mit.edu	37	11	1270883	1270883	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:1270883C>G	ENST00000447027.1	+	31	12840	c.12782C>G	c.(12781-12783)aCt>aGt	p.T4261S	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4258S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4258	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		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)		ACAACAGCCACTACGACTGCA	0.677000													4	63					0	0	0.000602	0	0
XRN2	22803	broad.mit.edu	37	20	21328869	21328869	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:21328869A>C	ENST00000377191.3	+	18	1846	c.1751A>C	c.(1750-1752)gAt>gCt	p.D584A	XRN2_ENST00000430571.2_Missense_Mutation_p.D508A|XRN2_ENST00000539513.1_Missense_Mutation_p.D530A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	584				D -> E (in Ref. 1; AAD55138).	cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						ATGCCATCTGATTTTGAGAAG	0.348000													5	49					0	0	0.001168	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587173	42587173	+	Silent	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:42587173C>A	ENST00000289957.2	+	5	851	c.723C>A	c.(721-723)atC>atA	p.I241I		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	241					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCTTTCTCATCATCCCCTGCC	0.468000													26	49					3.73988e-18	8.52345e-18	0.006320	1	0
SPATA7	55812	broad.mit.edu	37	14	88892892	88892892	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:88892892C>G	ENST00000556553.1	+	6	1152	c.593C>G	c.(592-594)tCt>tGt	p.S198C	SPATA7_ENST00000393545.4_Missense_Mutation_p.S230C|SPATA7_ENST00000045347.7_Missense_Mutation_p.S230C|SPATA7_ENST00000356583.5_Missense_Mutation_p.S198C			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	230					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GATAAACATTCTGAACTCTTT	0.428000													15	51					0	0	0.003163	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102502847	102502847	+	Silent	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr14:102502847C>A	ENST00000360184.4	+	57	10940	c.10776C>A	c.(10774-10776)ccC>ccA	p.P3592P	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3592	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCATTGACCCCTCTGGACAGG	0.488000													13	67					0.00185496	0.00386778	0.001855	1	0
LRRN4	164312	broad.mit.edu	37	20	6031559	6031559	+	Silent	SNP	C	C	T	rs149005401	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr20:6031559C>T	ENST00000378858.4	-	3	950	c.726G>A	c.(724-726)acG>acA	p.T242T		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	242						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCTCCAGGGTCGTCAGCCGAG	0.552000													10	21					0	0	0.008291	0	0
BTBD1	53339	broad.mit.edu	37	15	83710628	83710628	+	Silent	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr15:83710628A>G	ENST00000261721.4	-	4	916	c.714T>C	c.(712-714)agT>agC	p.S238S	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Silent_p.S238S|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	238						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CAAAAAGTCGACTTTCTCGAA	0.373000													18	39					0	0	0.008871	0	0
FAM135B	51059	broad.mit.edu	37	8	139164397	139164397	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:139164397G>T	ENST00000395297.1	-	13	2491	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	774										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTGATGTGGGGAGCAGATAC	0.522000										HNSCC(54;0.14)			8	99					1.58986e-06	3.50127e-06	0.008291	1	0
AP4M1	9179	broad.mit.edu	37	7	99703604	99703604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:99703604C>T	ENST00000429084.1	+	12	1131	c.973C>T	c.(973-975)Cga>Tga	p.R325*	AP4M1_ENST00000359593.4_Nonsense_Mutation_p.R318*|AP4M1_ENST00000422582.1_Nonsense_Mutation_p.R190*|AP4M1_ENST00000421755.1_Nonsense_Mutation_p.R318*			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	318	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTAAAGTTGCGATGTGACCT	0.552000													10	106					0	0	0.008291	0	0
CRTAM	56253	broad.mit.edu	37	11	122733161	122733161	+	Silent	SNP	C	C	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:122733161C>A	ENST00000533709.1	+	1	151	c.45C>A	c.(43-45)tcC>tcA	p.S15S	CRTAM_ENST00000227348.4_Intron			O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	215					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTTGTTTTTCCCCTTTCCTAG	0.438000													20	49					1.00905e-13	2.27326e-13	0.008871	1	0
PLEKHA8	84725	broad.mit.edu	37	7	30113748	30113748	+	Splice_Site	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr7:30113748G>T	ENST00000449726.1	+	13	1712	c.1362_splice	c.e13+1	p.A454_splice	PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396259.1_Intron|PLEKHA8_ENST00000396257.2_Splice_Site_p.A454_splice|AC007285.7_ENST00000433088.1_RNA	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	454					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GGGTTTTTGCGGTAAGTGATC	0.403000													10	11					0.00136819	0.00288351	0.001368	1	0
LRP2	4036	broad.mit.edu	37	2	170099508	170099508	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:170099508C>T	ENST00000263816.3	-	24	3910	c.3625G>A	c.(3625-3627)Ggt>Agt	p.G1209S	LRP2_ENST00000443831.1_Missense_Mutation_p.G1072S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1209	LDL-receptor class A 12.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCAAAAACACCATCACAACGA	0.398000													16	106					0	0	0.004007	0	0
ABCA9	10350	broad.mit.edu	37	17	67020425	67020425	+	Silent	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:67020425G>T	ENST00000340001.4	-	17	2422	c.2211C>A	c.(2209-2211)gcC>gcA	p.A737A	ABCA9_ENST00000370732.2_Silent_p.A737A|ABCA9_ENST00000453985.2_Silent_p.A737A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	737					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTGTCAATTTGGCATCAGAGA	0.323000													6	15					0.00116845	0.0024893	0.001168	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123239729	123239729	+	Splice_Site	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:123239729C>T	ENST00000349780.4	-	15	1806		c.e15-1		CDK5RAP2_ENST00000360822.3_Splice_Site|CDK5RAP2_ENST00000360190.4_Splice_Site|CDK5RAP2_ENST00000359309.3_Splice_Site	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTTTCTTTTCCTGGAAATGAC	0.358000											OREG0019439	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					0	0	0.003163	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136993	40136993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:40136993G>A	ENST00000278198.2	-	2	2813	c.850C>T	c.(850-852)Cat>Tat	p.H284Y	LRRC4C_ENST00000528697.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000530763.1_Missense_Mutation_p.H284Y|LRRC4C_ENST00000527150.1_Missense_Mutation_p.H284Y			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	284					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGGTCATGAGGCAGTAAT	0.443000													37	58					0	0	0.006999	0	0
MAP7D2	256714	broad.mit.edu	37	X	20043130	20043130	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:20043130G>T	ENST00000379651.3	-	9	1246	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K	MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q295K|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q358K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q365K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q451K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	410										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGCCGGGCCTGTCTTCTCTTT	0.527000													56	44					3.40343e-31	7.8479e-31	0.003610	1	0
EPX	8288	broad.mit.edu	37	17	56280505	56280505	+	Missense_Mutation	SNP	G	G	A	rs149971221	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr17:56280505G>A	ENST00000225371.5	+	11	1882	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	591					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGCTTAGCCGGGTGCTGAAA	0.542000													49	50					0	0	0.003610	0	0
MRPL53	116540	broad.mit.edu	37	2	74699750	74699750	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr2:74699750A>G	ENST00000258105.7	-	1	699	c.38T>C	c.(37-39)gTc>gCc	p.V13A	MRPL53_ENST00000409710.1_Missense_Mutation_p.V13A	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	13						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						AACCTGTTTGACAGGCCGCAG	0.592000													6	56					0	0	0.003080	0	0
CYYR1	116159	broad.mit.edu	37	21	27840862	27840862	+	Silent	SNP	C	C	T			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr21:27840862C>T	ENST00000299340.4	-	4	766	c.423G>A	c.(421-423)caG>caA	p.Q141Q	AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000444306.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	141						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGGAGAACGCTGTGCTGGAC	0.532000													5	41					0	0	0.000602	0	0
SGPL1	8879	broad.mit.edu	37	10	72636950	72636950	+	Splice_Site	SNP	A	A	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:72636950A>G	ENST00000373202.3	+	15	1766		c.e15-1			NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TTGGATTTGTAGGGTGCCATC	0.483000													3	29					0	0	0.004672	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500299	31500299	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr16:31500299C>G	ENST00000330498.3	+	11	1398	c.1379C>G	c.(1378-1380)tCt>tGt	p.S460C		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	460					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CAGGCAGTCTCTAGCTACCTG	0.662000													10	18					0	0	0.006214	0	0
DZIP3	9666	broad.mit.edu	37	3	108355484	108355484	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:108355484T>A	ENST00000361582.3	+	11	1170	c.940T>A	c.(940-942)Ttg>Atg	p.L314M	DZIP3_ENST00000463306.1_Missense_Mutation_p.L314M	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	314					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAAAAATGTTTGAAGGAAGG	0.274000													8	111					0	0	0.008291	0	0
SUSD1	64420	broad.mit.edu	37	9	114911525	114911525	+	Splice_Site	SNP	T	T	A			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:114911525T>A	ENST00000374270.3	-	3	544	c.373_splice	c.e3+1	p.T124_splice	SUSD1_ENST00000374264.2_Splice_Site_p.T124_splice|SUSD1_ENST00000374263.3_Splice_Site_p.T124_splice	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	124						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGAGTACCTGTACAAAAGG	0.458000													39	211					0	0	0.002222	0	0
POLR2H	5437	broad.mit.edu	37	3	184082973	184082998	+	Frame_Shift_Del	DEL	GGATGATGGTGAATACAACCCCACTG	GGATGATGGTGAATACAACCCCACTG	-	rs112012928		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr3:184082973_184082998delGGATGATGGTGAATACAACCCCACTG	ENST00000456318.1	+	4	1259_1284	c.210_235delGGATGATGGTGAATACAACCCCACTG	c.(208-237)ctatfs	p.LDDGEYNPTD70fs	POLR2H_ENST00000429568.1_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000430783.1_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000296223.3_Frame_Shift_Del_p.LDDGEYNPTD70fs|POLR2H_ENST00000443489.1_Frame_Shift_Del_p.LDDGEYNPTD34fs|POLR2H_ENST00000438240.1_Frame_Shift_Del_p.LDDGEYNPTD34fs|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000452961.1_Frame_Shift_Del_p.LDDGEYNPTD34fs	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	70					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding	p.P77P(1)|p.N76N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGTACCCTGGATGATGGTGAATACAACCCCACTGATGATAGGCC	0.407													9	141	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													2	4	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			2	4	---	---	---	---					
LEMD2	221496	broad.mit.edu	37	6	33744932	33744933	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:33744932_33744933insTC	ENST00000293760.5	-	7	1259_1260	c.1240_1241insGA	c.(1240-1242)ggtfs	p.G414fs	LEMD2_ENST00000508327.1_Frame_Shift_Ins_p.G112fs|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	414						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTTCTTCACCATCTCATACATG	0.510													32	193	---	---	---	---					
RSPH3	83861	broad.mit.edu	37	6	159403578	159403579	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr6:159403578_159403579insTC	ENST00000367069.2	-	5	1270_1271	c.634_635insGA	c.(634-636)tagfs	p.*212fs	RSPH3_ENST00000297262.3_Frame_Shift_Ins_p.*258fs|RSPH3_ENST00000449822.1_Frame_Shift_Ins_p.*116fs|RSPH3_ENST00000252655.1_Frame_Shift_Ins_p.*354fs			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	354										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		ACGTTCACTATTCCGTAGTTCT	0.431													12	68	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110460576	110460576	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr8:110460576delT	ENST00000378402.5	+	39	6085	c.5981delT	c.(5980-5982)gafs	p.V1994fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1994	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCACAGTTGTATTTGAGTAC	0.393										HNSCC(38;0.096)			8	32	---	---	---	---					
FAM166B	730112	broad.mit.edu	37	9	35562439	35562439	+	Frame_Shift_Del	DEL	G	G	-	rs77185976	byFrequency	TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr9:35562439delG	ENST00000399742.2	-	5	747	c.677delC	c.(676-678)cafs	p.P226fs	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	226										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TCTGGGAAGTGGGGGGAGATG	0.582													2	4	---	---	---	---					
RP11-445N18.5	0	broad.mit.edu	37	10	45672586	45672586	+	RNA	DEL	T	T	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr10:45672586delT	ENST00000422807.1	-	0	346																											TCAAAGGGAATCCAAAAGTCT	0.343													2	4	---	---	---	---					
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chr11:67209168delG	ENST00000545016.1	-	4	575	c.490delC	c.(490-492)acfs	p.H164fs	CORO1B_ENST00000453768.2_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													3	5	---	---	---	---					
AR	367	broad.mit.edu	37	X	66765243	66765245	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-CV-7421-01A-11D-2078-08	TCGA-CV-7421-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee675976-b447-48c8-bc67-6878a0d35e07	7da18a81-556e-48ca-a591-d8db35d19aad	g.chrX:66765243_66765245delGCA	ENST00000374690.3	+	1	779_781	c.255_257delGCA	c.(253-258)agg>ag	p.RQ85del	AR_ENST00000396044.3_In_Frame_Del_p.RQ85del|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.RQ85del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	83	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	ctagccccaggcagcagcagcag	0.631									Androgen Insensitivity Syndrome				3	5	---	---	---	---					
