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
PTBP3	9991	broad.mit.edu	37	9	115013271	115013271	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr9:115013271C>A	ENST00000334318.6	-	8	1019	c.833G>T	c.(832-834)cGc>cTc	p.R278L	PTBP3_ENST00000458258.1_Missense_Mutation_p.R281L|PTBP3_ENST00000343327.2_Missense_Mutation_p.R180L|PTBP3_ENST00000374255.2_Missense_Mutation_p.R275L|PTBP3_ENST00000374257.1_Missense_Mutation_p.R247L	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	275					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										AAGGTCTAAGCGAGTGAAGTC	0.443000													62	103					2.2129e-31	2.80472e-31	1	1	0
TSPEAR	54084	broad.mit.edu	37	21	45948375	45948375	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr21:45948375C>T	ENST00000323084.4	-	6	947	c.882G>A	c.(880-882)ctG>ctA	p.L294L	TSPEAR_ENST00000397916.1_Silent_p.L226L	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	294					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CACACAGATACAGGCCCTTCC	0.617000													22	39					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46677139	46677139	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:46677139T>C	ENST00000274793.7	-	9	990	c.794A>G	c.(793-795)gAa>gGa	p.E265G	PLA2G7_ENST00000537365.1_Missense_Mutation_p.E265G	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	265					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGCTATTTTTTCCCTATCAAT	0.303000													34	88					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1390682	1390682	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:1390682G>T	ENST00000259806.1	+	1	614	c.500G>T	c.(499-501)cGg>cTg	p.R167L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	167					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GGCCTCGGGCGGCCCGGCAAG	0.667000													10	122					0.000442599	0.000455126	1	1	0
SLC18A3	6572	broad.mit.edu	37	10	50820313	50820313	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:50820313C>T	ENST00000374115.3	+	1	1967	c.1527C>T	c.(1525-1527)ggC>ggT	p.G509G	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	509					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCAGGACGGCGAGCCTCGCA	0.652000													21	65					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953013	165953013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:165953013C>T	ENST00000360093.3	-	24	4748	c.4257G>A	c.(4255-4257)tgG>tgA	p.W1419*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1370*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1419*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1419						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TAATATCCATCCAGCCTTTAA	0.294000													14	42					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38117419	38117419	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr21:38117419C>T	ENST00000290399.6	+	10	2171	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	SIM2_ENST00000430056.3_Silent_p.L520L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	520	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TAGGCACAGCCTGGTGCCAAG	0.627000													4	5					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50176978	50176978	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:50176978C>T	ENST00000246785.3	+	7	1236	c.978C>T	c.(976-978)ccC>ccT	p.P326P	BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000594793.1_3'UTR|BCL2L12_ENST00000441864.2_Silent_p.P325P	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	326					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGTTTCACCCGTGGACTTGA	0.557000													10	57					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586096	20586096	+	Silent	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:20586096G>T	ENST00000315543.4	+	1	531	c.531G>T	c.(529-531)gtG>gtT	p.V177V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	149					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)		TGCTTGTAGTGACCTCATGGC	0.448000													58	72					1.17673e-23	1.42515e-23	1	1	0
RLIM	51132	broad.mit.edu	37	X	73811695	73811695	+	Silent	SNP	A	A	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:73811695A>G	ENST00000332687.6	-	4	1673	c.1455T>C	c.(1453-1455)agT>agC	p.S485S	RLIM_ENST00000349225.2_Silent_p.S485S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	485	Ser-rich.				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGTTTCTGAACTTTCACCAc	0.493000													3	15					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190595232	190595232	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:190595232A>T	ENST00000520309.1	+	16	3293	c.3205A>T	c.(3205-3207)Aca>Tca	p.T1069S	ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Missense_Mutation_p.T998S|ANKAR_ENST00000313581.4_Missense_Mutation_p.T1069S|ANKAR_ENST00000281412.6_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1069						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTAGCCCATACAAGCAATCC	0.373000													4	22					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20682933	20682933	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:20682933G>A	ENST00000307493.4	-	4	739	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F224F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	224					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGGTGAAGAAGATGACCA	0.502000													36	62					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142654951	142654951	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:142654951C>A	ENST00000355265.2	-	6	1109	c.635G>T	c.(634-636)gGa>gTa	p.G212V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	212					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGATGAGGTCCTAGGTAGGC	0.517000													16	47					1.5739e-10	1.78703e-10	1	1	0
GPR101	83550	broad.mit.edu	37	X	136113733	136113733	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:136113733C>T	ENST00000298110.1	-	1	100	c.101G>A	c.(100-102)cGc>cAc	p.R34H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	34						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACGGTTGAGCGGATGATGCC	0.607000													50	20					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302064	128302064	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:128302064C>T	ENST00000262462.4	+	1	1244	c.234C>T	c.(232-234)gaC>gaT	p.D78D	SLC27A6_ENST00000395266.1_Silent_p.D78D|SLC27A6_ENST00000506176.1_Silent_p.D78D			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	78					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.D78D(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATGAGGGAGACATCTACACCT	0.478000													36	19					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41463813	41463813	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:41463813C>T	ENST00000551295.2	+	24	3150	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	CNTN1_ENST00000347616.1_Silent_p.G1011G|CNTN1_ENST00000348761.2_Silent_p.G1000G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1011					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGCCTTTGGCATCCTTGTCT	0.483000													11	35					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185978226	185978226	+	Splice_Site	SNP	A	A	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr3:185978226A>T	ENST00000265022.3	-	16	1964		c.e16+1		DGKG_ENST00000344484.4_Intron|DGKG_ENST00000544847.1_Splice_Site|DGKG_ENST00000382164.4_Splice_Site	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGATCTCCATACCCTGGAGTA	0.408000													11	21					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98157320	98157320	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:98157320C>T	ENST00000370192.3	-	7	815	c.715G>A	c.(715-717)Gat>Aat	p.D239N	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	239					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCACTACATCATACGGCAGC	0.368000													14	51					0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106509549	106509549	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:106509549G>C	ENST00000233154.4	+	5	1502	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	NCK2_ENST00000522586.1_3'UTR|NCK2_ENST00000393349.2_Missense_Mutation_p.E354Q|NCK2_ENST00000451463.2_3'UTR	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	354	SH2.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CACCATGGACGAGCTGGTGGA	0.602000													11	39					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516476	27516476	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:27516476C>T	ENST00000301904.3	+	5	809	c.789C>T	c.(787-789)agC>agT	p.S263S	SCARA3_ENST00000337221.4_Silent_p.S263S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	263					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GGCTCTTCAGCGGCCTGCGCA	0.612000													4	39					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072280	17072280	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr22:17072280A>T	ENST00000359963.3	-	1	1420	c.1161T>A	c.(1159-1161)agT>agA	p.S387R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	387					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCTGCTCTGCACTCCGCAGCC	0.562000													27	37					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76234333	76234333	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:76234333G>A	ENST00000529032.1	+	11	1819	c.1819G>A	c.(1819-1821)Gga>Aga	p.G607R	C11orf30_ENST00000533248.1_Missense_Mutation_p.G621R|C11orf30_ENST00000524767.1_Missense_Mutation_p.G622R|C11orf30_ENST00000524490.1_Missense_Mutation_p.G523R|C11orf30_ENST00000334736.3_Missense_Mutation_p.G607R|C11orf30_ENST00000343878.3_Missense_Mutation_p.G607R|C11orf30_ENST00000525038.1_Missense_Mutation_p.G622R|C11orf30_ENST00000525919.1_Missense_Mutation_p.G608R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	607	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTAAATGCTGGAGTAAGTGA	0.428000													10	25					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29447388	29447388	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr18:29447388T>C	ENST00000283351.4	-	17	2775	c.2440A>G	c.(2440-2442)Att>Gtt	p.I814V	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.I760V	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	814					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCGCCATTAATTAAGAACTCT	0.269000													38	66					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21852044	21852044	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:21852044T>C	ENST00000216297.2	-	1	381	c.43A>G	c.(43-45)Aag>Gag	p.K15E	SUPT16H_ENST00000555943.1_Missense_Mutation_p.K15E	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	15					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TACAGTCTCTTCACTCGCCGA	0.557000													4	103					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100177977	100177977	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:100177977G>A	ENST00000414213.1	-	13	2019	c.1418C>T	c.(1417-1419)cCa>cTa	p.P473L	FRRS1_ENST00000492943.1_5'UTR|FRRS1_ENST00000287474.5_Missense_Mutation_p.P473L			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	473	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TAAGTACCTTGGGTCATGTAA	0.388000													18	20					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149866	34149866	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:34149866G>T	ENST00000346193.3	-	1	581	c.530C>A	c.(529-531)aCt>aAt	p.T177N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	177	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCAGGCTCAGTGGGTACCTC	0.577000													13	14					0.00136819	0.00139377	1	1	0
SSPO	23145	broad.mit.edu	37	7	149509413	149509413	+	RNA	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:149509413G>A	ENST00000378016.2	+	0	9811							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGGGGGAGGCCTGCGGAG	0.716000													8	5					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113404993	113404993	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:113404993G>A	ENST00000272542.3	+	3	966	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	143					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTTCTCCCTCGTGGCAAAGGG	0.433000													96	121					0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950259	45950259	+	Missense_Mutation	SNP	C	C	T	rs2271851	byFrequency	TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:45950259C>T	ENST00000531526.1	+	14	2140	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R677C|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R646C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R677C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R646C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	677			R -> C (in dbSNP:rs2271851).		muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTCCCGCTTCCGCTCCAGCCC	0.637000													11	53					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207287603	207287603	+	Missense_Mutation	SNP	G	G	A	rs148489140		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:207287603G>A	ENST00000367070.3	+	3	495	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	101	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTCTGATGGCGAATGGGTGTA	0.393000													4	94					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91420200	91420200	+	Silent	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:91420200C>G	ENST00000268171.3	+	5	726	c.447C>G	c.(445-447)gtC>gtG	p.V149V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	149					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCATTGTGGTCTCCATTCTGG	0.602000													66	32					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	601588	601588	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:601588G>C	ENST00000264555.5	+	10	1167	c.1039G>C	c.(1039-1041)Gtg>Ctg	p.V347L	PHRF1_ENST00000416188.2_Missense_Mutation_p.V347L|PHRF1_ENST00000413872.2_Missense_Mutation_p.V346L|PHRF1_ENST00000533464.1_Missense_Mutation_p.V343L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	347	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGGAAGAAAGTGCCGGGAAG	0.537000													17	42					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711567	155711567	+	Silent	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:155711567C>A	ENST00000295101.2	+	3	1725	c.1248C>A	c.(1246-1248)ctC>ctA	p.L416L		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	416					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCAAAAAACTCTTGAGGATGA	0.388000													45	44					4.0306e-16	4.82786e-16	1	1	0
ZNF440	126070	broad.mit.edu	37	19	11943101	11943101	+	Silent	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:11943101T>C	ENST00000304060.5	+	4	1274	c.1110T>C	c.(1108-1110)tgT>tgC	p.C370C		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCTATAAATGTAAGCAGTGTG	0.383000													6	57					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850525	216850525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:216850525G>T	ENST00000391890.3	-	4	813	c.296C>A	c.(295-297)tCg>tAg	p.S99*	ESRRG_ENST00000493603.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.S99*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.S99*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.S122*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.S99*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.S127*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.S99*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	122					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTGGGCATCGAGTTGAGCAT	0.502000													56	73					3.84483e-29	4.81709e-29	1	1	0
TMEM140	55281	broad.mit.edu	37	7	134849719	134849719	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:134849719G>A	ENST00000275767.2	+	2	749	c.526G>A	c.(526-528)Gag>Aag	p.E176K	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	176						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TCTGAGGGCTGAGAGGGCTGA	0.577000													10	28					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117230489	117230489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:117230489G>T	ENST00000003084.6	+	13	1894	c.1762G>T	c.(1762-1764)Gaa>Taa	p.E588*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E527*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	588	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AGAAATATTTGAAAGGTATGT	0.294000									Cystic Fibrosis				9	77					2.74318e-10	3.08254e-10	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165953014	165953014	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:165953014C>G	ENST00000360093.3	-	24	4747	c.4256G>C	c.(4255-4257)tGg>tCg	p.W1419S	SCN3A_ENST00000409101.3_Missense_Mutation_p.W1370S|SCN3A_ENST00000283254.7_Missense_Mutation_p.W1419S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1419						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AATATCCATCCAGCCTTTAAA	0.294000													14	42					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155503997	155503997	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:155503997C>T	ENST00000401878.3	+	8	1247	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	350	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTGCAGCACCCGCACCACCCA	0.687000													22	38					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76816075	76816075	+	Translation_Start_Site	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:76816075C>T	ENST00000449938.2	-	0	1403				USP36_ENST00000312010.6_Missense_Mutation_p.R283H|USP36_ENST00000542802.2_Missense_Mutation_p.R283H			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R283H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCAGAGCACGCACAATATT	0.428000													101	44					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008940	120008940	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chrX:120008940C>T	ENST00000371311.3	-	1	839	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	195										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCCTGGACCGACGCAGCCT	0.706000													42	13					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105715748	105715748	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:105715748C>T	ENST00000463376.2	+	2	674	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000536364.1_Silent_p.L120L|BTBD6_ENST00000392554.3_Silent_p.L120L|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000327471.3_Silent_p.L45L|BRF1_ENST00000379937.2_Intron			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	120	Pro-rich.					cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTACGGAGACCTGGCGGAAGT	0.582000													26	52					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848051	166848051	+	Nonsense_Mutation	SNP	G	G	A	rs77216276		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:166848051G>A	ENST00000423058.2	-	26	5751	c.5734C>T	c.(5734-5736)Cga>Tga	p.R1912*	SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1912*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1901*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1884*|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1912						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTGTTTTCGTTTTAAAGTA	0.413000													53	55					0	0	1	0	0
ZRANB2	9406	broad.mit.edu	37	1	71544350	71544350	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:71544350C>T	ENST00000370920.3	-	2	399	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R33Q	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	33					mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CCGACCACATCGATTACAGCT	0.254000													18	94					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487510	131487510	+	Silent	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:131487510C>A	ENST00000309926.4	+	1	868	c.786C>A	c.(784-786)acC>acA	p.T262T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCAGGGGCACCCTGCTGATCC	0.572000													22	68					3.62473e-10	3.99087e-10	1	1	0
PRPH	5630	broad.mit.edu	37	12	49691346	49691346	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:49691346G>A	ENST00000257860.4	+	6	2702	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	401	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AGCTGCTGGAGGGCGAGGAGA	0.687000													21	22					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49626377	49626377	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr20:49626377G>A	ENST00000371571.4	-	2	784	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	KCNG1_ENST00000396017.3_Missense_Mutation_p.R167C|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	167						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGTAGCGGCGCTTGCAGCAG	0.687000													5	66					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032122	79032122	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:79032122G>T	ENST00000446378.2	+	2	7565	c.7534G>T	c.(7534-7536)Gct>Tct	p.A2512S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2512						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGCCGATGCTATGCCACA	0.378000													36	22					6.19805e-25	7.59087e-25	1	1	0
UTRN	7402	broad.mit.edu	37	6	144835885	144835885	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:144835885C>A	ENST00000367545.3	+	36	5173	c.5173C>A	c.(5173-5175)Ctt>Att	p.L1725I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1725	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AAGCAGGGAGCTTGTAGAACC	0.428000													59	39					6.3091e-27	7.81468e-27	1	1	0
MNT	4335	broad.mit.edu	37	17	2298352	2298352	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:2298352A>G	ENST00000174618.4	-	2	875	c.470T>C	c.(469-471)aTt>aCt	p.I157T		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	157					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		ATTGGGTGGAATGGTGGCCTT	0.692000													4	4					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49438185	49438185	+	Splice_Site	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:49438185C>T	ENST00000301067.7	-	20	5083		c.e20+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGGACCTCACCAGGCCGATA	0.587000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	35					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77669828	77669828	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:77669828T>A	ENST00000534064.1	-	7	795	c.761A>T	c.(760-762)cAg>cTg	p.Q254L	INTS4_ENST00000529807.1_Missense_Mutation_p.Q254L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	254					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CCAGATAAGCTGGACTGCAGC	0.473000													4	6					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70980858	70980858	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:70980858C>A	ENST00000334414.6	-	9	2284	c.2240G>T	c.(2239-2241)cGa>cTa	p.R747L	PTPRB_ENST00000550857.1_Missense_Mutation_p.R439L|PTPRB_ENST00000538708.1_Missense_Mutation_p.R529L|PTPRB_ENST00000261266.5_Missense_Mutation_p.R529L|PTPRB_ENST00000550358.1_Missense_Mutation_p.R747L|PTPRB_ENST00000451516.2_Missense_Mutation_p.R439L|PTPRB_ENST00000551525.1_Missense_Mutation_p.R746L|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	529	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATGTATTTTCGTCCAGGCAC	0.373000													123	66					2.53974e-74	3.25684e-74	1	1	0
MMP11	4320	broad.mit.edu	37	22	24122901	24122901	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr22:24122901G>A	ENST00000215743.3	+	4	667	c.616_splice	c.e4+1	p.Q205_splice	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	205					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GGGATGACCAGGGTATGGGCT	0.582000													9	18					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412543	154412543	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr6:154412543G>A	ENST00000414028.2	+	3	1150	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	OPRM1_ENST00000419506.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000520708.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000360422.4_Missense_Mutation_p.R367Q|OPRM1_ENST00000330432.7_Missense_Mutation_p.R367Q|OPRM1_ENST00000524163.1_Missense_Mutation_p.R367Q|OPRM1_ENST00000522236.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000522555.1_Missense_Mutation_p.R267Q|OPRM1_ENST00000229768.5_Missense_Mutation_p.R367Q|OPRM1_ENST00000452687.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000518759.1_Missense_Mutation_p.R286Q|OPRM1_ENST00000435918.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000434900.2_Missense_Mutation_p.R460Q|OPRM1_ENST00000428397.2_Missense_Mutation_p.R367Q|OPRM1_ENST00000337049.4_Missense_Mutation_p.R367Q	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	367					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R367L(2)|p.R460L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACTCCACTCGAATTCGTCAG	0.443000													21	22					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75552435	75552435	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:75552435C>A	ENST00000604729.1	+	10	2435	c.2138C>A	c.(2137-2139)cCc>cAc	p.P713H	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.P713H|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.P713H|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.P680H					zinc finger, SWIM-type containing 8																		AATGGGCTTCCCAAAACCAAA	0.597000													19	21					1.15919e-05	1.23874e-05	1	1	0
USF1	7391	broad.mit.edu	37	1	161012652	161012652	+	Translation_Start_Site	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:161012652G>A	ENST00000435396.1	-	0	223				USF1_ENST00000368020.1_Missense_Mutation_p.T10M|USF1_ENST00000368019.1_Missense_Mutation_p.T10M|USF1_ENST00000368021.3_Missense_Mutation_p.T10M	NM_207005.1	NP_996888.1	P22415	USF1_HUMAN	upstream transcription factor 1						cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCTCTTCCGTTTCAGCTGT	0.493000													20	108					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54626011	54626011	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:54626011C>T	ENST00000545554.1	+	15	4541	c.4541C>T	c.(4540-4542)tCa>tTa	p.S1514L	UNC13C_ENST00000260323.11_Missense_Mutation_p.S1514L|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1512L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1514					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACCTGAAATCAACTGTTGAC	0.363000													12	7					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313275	54313275	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:54313275G>A	ENST00000324134.6	-	3	1806	c.1638C>T	c.(1636-1638)acC>acT	p.T546T	NLRP12_ENST00000391775.3_Silent_p.T546T|NLRP12_ENST00000391772.1_Silent_p.T546T|NLRP12_ENST00000391773.1_Silent_p.T546T|NLRP12_ENST00000535162.1_Silent_p.T546T|NLRP12_ENST00000354278.3_Silent_p.T546T|NLRP12_ENST00000345770.5_Silent_p.T546T|NLRP12_ENST00000351894.4_Silent_p.T546T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	546					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACGCGTACTCGGTCAACAGCC	0.567000													29	83					0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721934	721934	+	Silent	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:721934C>G	ENST00000315082.4	+	13	1143	c.1029C>G	c.(1027-1029)ccC>ccG	p.P343P		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	343					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCTGGGGCCCCGAGCTCCCAC	0.682000													41	64					0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241984	109241984	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:109241984G>A	ENST00000370021.1	+	7	1287	c.650G>A	c.(649-651)aGg>aAg	p.R217K	PRPF38B_ENST00000370025.4_Missense_Mutation_p.R328K			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	328					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TTAGAACGCAGGCGCAGCAGA	0.498000													6	95					0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23243467	23243467	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:23243467G>A	ENST00000356206.6	-	13	1925	c.1690C>T	c.(1690-1692)Cac>Tac	p.H564Y	LOXL2_ENST00000389131.3_Intron			Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	0					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		cattgcaagtgtttggtggcc	0.448000													10	55					0	0	1	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020253	156020253	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:156020253C>T	ENST00000368309.3	-	4	662	c.570G>A	c.(568-570)atG>atA	p.M190I	UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	190						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CAGGATTGGACATCAGCTGCC	0.577000													33	61					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25395956	25395956	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr4:25395956C>A	ENST00000315368.3	+	12	1043	c.901C>A	c.(901-903)Caa>Aaa	p.Q301K	ANAPC4_ENST00000510092.1_Missense_Mutation_p.Q301K	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	301					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CACATCAGTGCAAGATGAGTT	0.294000													21	18					1.42536e-11	1.63541e-11	1	1	0
MUC2	4583	broad.mit.edu	37	11	1094728	1094728	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:1094728C>T	ENST00000441003.2	+	31	5843	c.5816C>T	c.(5815-5817)aCg>aTg	p.T1939M	MUC2_ENST00000333592.6_Missense_Mutation_p.T227M|MUC2_ENST00000361558.6_Missense_Mutation_p.T77M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1970						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACTGTGCAGACGACCACCACC	0.637000													14	38					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631109	67631109	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:67631109C>T	ENST00000272342.5	+	5	1425	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	432						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGAGCAAATACAAGTCCAGAT	0.328000													15	42					0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36507075	36507075	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:36507075C>T	ENST00000360535.4	-	14	1856	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	CLIP3_ENST00000593074.1_Silent_p.A543A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	543	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTGCATCTCCGCCCTCAGCA	0.592000													6	21					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112690230	112690230	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:112690230G>C	ENST00000550722.1	-	23	3507	c.3112C>G	c.(3112-3114)Cag>Gag	p.Q1038E	HECTD4_ENST00000377560.5_Missense_Mutation_p.Q1012E|HECTD4_ENST00000430131.2_Missense_Mutation_p.Q762E	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCAAGTACCTGAGCGCGAACT	0.458000													37	29					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34080543	34080543	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr15:34080543C>T	ENST00000389232.4	+	67	9784	c.9714C>T	c.(9712-9714)gcC>gcT	p.A3238A	RYR3_ENST00000415757.3_Silent_p.A3238A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3238					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTTGAAAGCCGATGGCAAAG	0.567000													8	109					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4080459	4080459	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:4080459C>T	ENST00000341657.4	-	19	2772	c.2737G>A	c.(2737-2739)Gct>Act	p.A913T	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A914T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A955T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	913				A -> V (in Ref. 1; BAA90300).		endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCTTGGACAGCGAGGTGCAGG	0.438000													6	85					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2714952	2714952	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:2714952G>A	ENST00000399655.1	+	24	3421	c.3156_splice	c.e24+1	p.K1052_splice	CACNA1C_ENST00000399591.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399617.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000335762.5_Splice_Site_p.K1077_splice|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399641.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000327702.7_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399621.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399629.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399595.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000344100.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399634.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399601.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000347598.4_Splice_Site_p.K1072_splice|CACNA1C_ENST00000399637.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399606.1_Splice_Site_p.K1072_splice|CACNA1C_ENST00000402845.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000480911.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399597.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399649.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000406454.3_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399644.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399603.1_Splice_Site_p.K1052_splice|CACNA1C_ENST00000399638.1_Splice_Site_p.K1052_splice	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1072					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCTCTTCAAGGTAAAGTCTG	0.542000													48	47					0	0	1	0	0
LTB4R	1241	broad.mit.edu	37	14	24784885	24784885	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:24784885C>A	ENST00000396789.4	+	2	1753	c.28C>A	c.(28-30)Ccc>Acc	p.P10T	LTB4R_ENST00000345363.3_Missense_Mutation_p.P10T|LTB4R_ENST00000396782.2_Missense_Mutation_p.P10T	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGCAGCACCCCCCTCACTAGG	0.582000													16	117					4.75885e-15	5.6382e-15	1	1	0
D2HGDH	728294	broad.mit.edu	37	2	242689679	242689679	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:242689679C>T	ENST00000321264.4	+	7	1176	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	D2HGDH_ENST00000486953.1_3'UTR|D2HGDH_ENST00000403782.1_Missense_Mutation_p.R189C	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	323					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCTGGTCGGGCGCCATCTCCA	0.622000													10	42					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17470205	17470205	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:17470205T>C	ENST00000302539.4	-	8	1315	c.1190A>G	c.(1189-1191)aAt>aGt	p.N397S	ABCC8_ENST00000389817.3_Missense_Mutation_p.N397S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	397	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CATAATTTTATTGTAAATCTT	0.458000													28	56					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220251440	220251440	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:220251440G>A	ENST00000273075.4	-	4	500	c.280C>T	c.(280-282)Cct>Tct	p.P94S	DNPEP_ENST00000373972.1_Missense_Mutation_p.P19S|DNPEP_ENST00000523282.1_Missense_Mutation_p.P102S	NM_012100.2	NP_036232.2	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	84					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CCATTGCCAGGAACGTACTGG	0.587000													3	2					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239534	65239534	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:65239534C>T	ENST00000389722.3	-	25	5370	c.5317G>A	c.(5317-5319)Gac>Aac	p.D1773N	SPTB_ENST00000556626.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1773N|SPTB_ENST00000542895.1_Missense_Mutation_p.D1773N|SPTB_ENST00000389721.5_Missense_Mutation_p.D1773N	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1773					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTCAGCCCGTCCTTCCACTCG	0.642000													25	50					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65268905	65268905	+	RNA	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:65268905G>A	ENST00000534336.1	+	0	3673					NR_002819.2																						TGGAGAAATGGCTGGTAGTTA	0.403000													6	16					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161047418	161047418	+	Silent	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr1:161047418C>A	ENST00000368012.3	-	3	857	c.555G>T	c.(553-555)acG>acT	p.T185T		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	185	Ig-like C2-type 1.		T -> M (in EDSS1).		adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTTTGACCTCCGTGTCCCAGG	0.637000													29	34					4.87955e-14	5.71905e-14	1	1	0
SDK1	221935	broad.mit.edu	37	7	4153034	4153034	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:4153034G>A	ENST00000404826.2	+	24	3687	c.3548G>A	c.(3547-3549)cGt>cAt	p.R1183H	SDK1_ENST00000389531.3_Missense_Mutation_p.R1183H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1183	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCACGGTCCGTACTGCCAGT	0.652000													5	172					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6243788	6243788	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:6243788G>A	ENST00000265978.4	-	6	1433	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	FAM160A2_ENST00000449352.2_Missense_Mutation_p.R359W|FAM160A2_ENST00000524416.1_Missense_Mutation_p.R359W	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	359					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGATACTCCGTAGGAAAAGT	0.527000													15	36					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762570	53762570	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr19:53762570C>G	ENST00000341702.3	+	1	1026	c.942C>G	c.(940-942)atC>atG	p.I314M	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	314					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ACAGAGCCATCCAAAGCATCC	0.468000													23	116					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345218	20345218	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:20345218C>A	ENST00000298642.2	+	1	828	c.792C>A	c.(790-792)agC>agA	p.S264R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACTAAGCAGCTTTCTCACAG	0.403000													24	183					7.92952e-12	9.19487e-12	1	1	0
TOX2	84969	broad.mit.edu	37	20	42694468	42694468	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr20:42694468G>A	ENST00000358131.5	+	6	1231	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	TOX2_ENST00000435864.2_Silent_p.S237S|TOX2_ENST00000423191.1_Silent_p.S317S|TOX2_ENST00000372999.1_Silent_p.S317S|TOX2_ENST00000341197.3_Silent_p.S359S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGACGCCGTCGGACCTGCAGG	0.682000													30	85					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95108141	95108141	+	RNA	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:95108141T>C	ENST00000469935.1	+	0	746					NR_015340.1																						CATTGACGAATATACAGAGCA	0.612000													46	77					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131665	142131665	+	RNA	SNP	C	C	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr7:142131665C>A	ENST00000390375.2	-	0	130																											TCGTTTTGATCAGGTGTGTGG	0.572000													23	48					2.79863e-10	3.11276e-10	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113299438	113299438	+	Silent	SNP	G	G	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:113299438G>T	ENST00000297405.5	-	58	9430	c.9186C>A	c.(9184-9186)ccC>ccA	p.P3062P	CSMD3_ENST00000352409.3_Silent_p.P2992P|CSMD3_ENST00000455883.2_Silent_p.P2893P|CSMD3_ENST00000343508.3_Silent_p.P3022P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3062	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCCATGGCCGGGAGTACCTG	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	108					0.00307968	0.00310819	1	1	0
CCNA1	8900	broad.mit.edu	37	13	37011903	37011903	+	Silent	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr13:37011903G>A	ENST00000418263.1	+	3	782	c.432G>A	c.(430-432)ggG>ggA	p.G144G	CCNA1_ENST00000255465.4_Silent_p.G145G|CCNA1_ENST00000440264.1_Silent_p.G101G|CCNA1_ENST00000449823.1_Silent_p.G101G	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	145					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TAGAGCAGGGGGACAGAGACA	0.542000													54	28					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62577965	62577965	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr8:62577965T>C	ENST00000389204.4	-	6	608	c.523A>G	c.(523-525)Agt>Ggt	p.S175G	ASPH_ENST00000541428.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.S160G|ASPH_ENST00000517903.1_Intron	NM_020164.4	NP_064549.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	391	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	gttttagcacttttttctagg	0.378000													15	27					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95910816	95910816	+	Silent	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:95910816C>T	ENST00000553340.1	-	9	1796	c.1782G>A	c.(1780-1782)agG>agA	p.R594R	SYNE3_ENST00000334258.5_Intron|SYNE3_ENST00000557275.1_Intron|SYNE3_ENST00000554873.1_Intron					spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CTCACAGACCCCTCACCTGCA	0.602000													14	25					0	0	1	0	0
CDRT15	146822	broad.mit.edu	37	17	14140021	14140021	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:14140021G>A	ENST00000420162.2	-	1	145	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	CDRT15_ENST00000431716.2_Missense_Mutation_p.A19V	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	44										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		ACCTGGATGCGCCTTATTACA	0.607000													15	14					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60097285	60097285	+	Translation_Start_Site	SNP	G	G	A			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr14:60097285G>A	ENST00000342503.4	-	0	247				RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000395090.1_De_novo_Start_OutOfFrame|RTN1_ENST00000267484.5_Intron	NM_206852.2	NP_996734.1	Q16799	RTN1_HUMAN	reticulon 1						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCACTCAAGCGTTGGTGCCCG	0.721000													31	59					0	0	1	0	0
CHEK1	1111	broad.mit.edu	37	11	125514440	125514440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:125514440C>T	ENST00000534070.1	+	11	1390	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	CHEK1_ENST00000524737.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000544373.1_Nonsense_Mutation_p.R379*|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000427383.2_Nonsense_Mutation_p.R395*|CHEK1_ENST00000428830.2_Nonsense_Mutation_p.R379*|CHEK1_ENST00000278916.3_Intron|CHEK1_ENST00000438015.1_Nonsense_Mutation_p.R379*	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	379					cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAGAATGACACGATTCTTTAC	0.373000								Other conserved DNA damage response genes					6	51					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570264	136570264	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:136570264G>C	ENST00000264162.2	-	7	1980	c.1970C>G	c.(1969-1971)tCc>tGc	p.S657C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	657	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CACAGGATGGGAGCACTGTCT	0.562000													12	53					0	0	1	0	0
SLC25A46	91137	broad.mit.edu	37	5	110096948	110096948	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:110096948A>C	ENST00000355943.3	+	8	849	c.723A>C	c.(721-723)aaA>aaC	p.K241N	SLC25A46_ENST00000509432.1_Missense_Mutation_p.K28N|SLC25A46_ENST00000513807.1_Missense_Mutation_p.K79N|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K150N|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K95N|SLC25A46_ENST00000447245.2_Intron	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	241					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTGTGTTAAAGAAGGAATTG	0.383000													56	46					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102049774	102049774	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr10:102049774C>T	ENST00000318222.3	-	14	2630	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	PKD2L1_ENST00000338519.3_Missense_Mutation_p.V675M|PKD2L1_ENST00000353274.3_Missense_Mutation_p.V750M	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	750					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCACTCACCACGCCTGGGGAG	0.547000													23	52					0	0	1	0	0
H3F3AP4	440926	broad.mit.edu	37	2	175585095	175585095	+	RNA	DEL	T	T	-	rs112662182		TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr2:175585095delT	ENST00000442996.1	+	0	217																											AAAAAAAAAATTTCTCTTCTT	0.373													3	3	---	---	---	---					
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581													3	4	---	---	---	---					
LAMC3	10319	broad.mit.edu	37	9	133884921	133884921	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr9:133884921delC	ENST00000361069.4	+	1	453	c.320delC	c.(319-321)tcfs	p.S107fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	107	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGAGCCCGTCCATGGCCTTC	0.701													2	4	---	---	---	---					
GAS2	2620	broad.mit.edu	37	11	22770774	22770774	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:22770774delA	ENST00000454584.2	+	6	887	c.582delA	c.(580-582)ggfs	p.G194fs	GAS2_ENST00000278187.3_Frame_Shift_Del_p.G194fs|GAS2_ENST00000433790.1_Frame_Shift_Del_p.G194fs	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	194					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGTCTTCTGGAAAAAAGAGTA	0.398													17	51	---	---	---	---					
MYRF	745	broad.mit.edu	37	11	61544274	61544274	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr11:61544274delG	ENST00000278836.5	+	11	1611	c.1515delG	c.(1513-1515)gtfs	p.V506fs	MYRF_ENST00000327797.1_Frame_Shift_Del_p.V131fs|MYRF_ENST00000265460.5_Frame_Shift_Del_p.V497fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		TCATGCTGGTGGTGGCCCTCC	0.632											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
WSB2	55884	broad.mit.edu	37	12	118473017	118473018	+	Splice_Site	INS	-	-	C			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr12:118473017_118473018insC	ENST00000315436.3	-	7	1086		c.e7+1		WSB2_ENST00000535496.1_Splice_Site|WSB2_ENST00000542304.1_Splice_Site|WSB2_ENST00000441406.2_Splice_Site|WSB2_ENST00000544233.1_Splice_Site	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2						intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTTCGTTACCTGTCATCTG	0.520											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	37	---	---	---	---					
MMP25	64386	broad.mit.edu	37	16	3107600	3107603	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr16:3107600_3107603delCTTT	ENST00000336577.4	+	7	1229_1232	c.992_995delCTTT	c.(991-996)acfs	p.TF331fs	RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	331	Hemopexin-like 1.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGAGGGGAAACTTTCTTCTTCAAA	0.539													13	103	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577095	7577096	+	Frame_Shift_Ins	INS	-	-	TCTC			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr17:7577095_7577096insTCTC	ENST00000420246.2	-	8	974_975	c.842_843insGAGA	c.(841-843)gcgfs	p.A281fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.A281fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.A281fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.A281fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281E(28)|p.R282W(10)|p.D281G(10)|p.0?(8)|p.D281V(5)|p.D281D(5)|p.D281fs*63(2)|p.?(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281_R282>EW(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.D281_R282delDR(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)		CTGTGCGCCGGTCTCTCCCAGG	0.554		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)			14	18	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-UF-A7JH-01A-21D-A34J-08	TCGA-UF-A7JH-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0757d8b6-f579-41b6-93d6-24cb4436f796	f33f6ac0-5400-4807-ad48-f50070b3347d	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---					
