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
CLEC4E	26253	broad.mit.edu	37	12	8693386	8693386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:8693386G>T	ENST00000299663.3	-	1	173	c.8C>A	c.(7-9)tCa>tAa	p.S3*	CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.S3*|CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.S3*	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	3						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGATTTAGATGAATTCATTTT	0.363000													12	43					0.00185496	0.00260109	0.001855	1	0
EYA1	2138	broad.mit.edu	37	8	72229804	72229804	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:72229804T>C	ENST00000340726.3	-	7	1178	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	EYA1_ENST00000388742.4_Missense_Mutation_p.Y180C|EYA1_ENST00000388741.2_Missense_Mutation_p.Y146C|EYA1_ENST00000419131.1_Missense_Mutation_p.Y175C|EYA1_ENST00000303824.7_Missense_Mutation_p.Y174C|EYA1_ENST00000388743.2_Missense_Mutation_p.Y179C|EYA1_ENST00000388740.3_Missense_Mutation_p.Y147C	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	180					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGTAGCTGTATGGTGCCTG	0.438000													45	94					0	0	0.013114	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75553701	75553701	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:75553701A>C	ENST00000604729.1	+	12	2821	c.2524A>C	c.(2524-2526)Aca>Cca	p.T842P	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T809P|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T842P					zinc finger, SWIM-type containing 8																		CTTCCTGTTGACAGTGCTAAG	0.562000													7	20					0	0	0.001984	0	0
HERC3	8916	broad.mit.edu	37	4	89583677	89583677	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583677C>T	ENST00000402738.1	+	11	1481	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	HERC3_ENST00000264345.3_Silent_p.L414L|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	414					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GACAAAAACTCTCAGAACACA	0.343000													5	32					0	0	0.000602	0	0
SMTN	6525	broad.mit.edu	37	22	31485785	31485785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:31485785T>C	ENST00000333137.7	+	7	790	c.572T>C	c.(571-573)cTg>cCg	p.L191P	SMTN_ENST00000358743.1_Missense_Mutation_p.L191P|SMTN_ENST00000347557.2_Missense_Mutation_p.L191P	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	191					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACACTCCTGCTGCGAGCCCCA	0.637000													14	51					0	0	0.003163	0	0
PCSK2	5126	broad.mit.edu	37	20	17462446	17462446	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:17462446G>C	ENST00000262545.2	+	12	1963	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.D515H|PCSK2_ENST00000377899.1_Missense_Mutation_p.D531H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	550					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGGGCTTTGACAAGTGGCC	0.597000													11	31					0	0	0.010729	0	0
HSD17B6	8630	broad.mit.edu	37	12	57167654	57167654	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57167654G>A	ENST00000554643.1	+	3	367	c.18G>A	c.(16-18)gcG>gcA	p.A6A	HSD17B6_ENST00000554150.1_Silent_p.A6A|HSD17B6_ENST00000322165.1_Silent_p.A6A|HSD17B6_ENST00000555805.1_Silent_p.A6A|HSD17B6_ENST00000555159.1_Silent_p.A6A			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	6					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCTACCTGGCGGCCTTCGTGG	0.463000													14	65					0	0	0.003163	0	0
CSNK1D	1453	broad.mit.edu	37	17	80211118	80211118	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:80211118G>A	ENST00000314028.6	-	4	688	c.339C>T	c.(337-339)atC>atT	p.I113I	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.I113I|CSNK1D_ENST00000392334.2_Silent_p.I113I	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	113	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGATGCGACTGATCTGTGAGC	0.552000													55	40					0	0	0.014410	0	0
CCP110	9738	broad.mit.edu	37	16	19557137	19557137	+	Splice_Site	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr16:19557137A>G	ENST00000396212.2	+	12	3139		c.e12-1		CCP110_ENST00000381396.5_Splice_Site|CCP110_ENST00000396208.2_Splice_Site	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa						centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TGTATATTAAAGGATAAAATG	0.338000													24	52					0	0	0.005443	0	0
COCH	1690	broad.mit.edu	37	14	31346874	31346874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:31346874C>G	ENST00000396618.3	+	4	235	c.179C>G	c.(178-180)tCt>tGt	p.S60C	COCH_ENST00000216361.4_Missense_Mutation_p.S60C|COCH_ENST00000475087.1_Missense_Mutation_p.S60C|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_5'UTR	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	60	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAGGAATTCTCTGTGTATGGG	0.507000													9	34					0	0	0.004482	0	0
MSX2	4488	broad.mit.edu	37	5	174156337	174156337	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:174156337G>T	ENST00000239243.6	+	2	682	c.555G>T	c.(553-555)caG>caT	p.Q185H		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	185					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAGACCCAGGTCAAAATCT	0.547000													13	58					4.36969e-10	6.56762e-10	0.001855	1	0
CSMD3	114788	broad.mit.edu	37	8	113599348	113599348	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:113599348C>G	ENST00000297405.5	-	23	4076	c.3832G>C	c.(3832-3834)Gga>Cga	p.G1278R	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1278R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1238R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1174R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1278	CUB 7.					integral to membrane|plasma membrane		p.G1238*(1)|p.G1278*(1)		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						ATATTGATTCCCTTTCCTGCT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	46					0	0	0.003330	0	0
ZNF322	79692	broad.mit.edu	37	6	26638669	26638669	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26638669A>G	ENST00000415922.2	-	4	758	c.113T>C	c.(112-114)aTa>aCa	p.I38T	ZNF322_ENST00000471278.1_Missense_Mutation_p.I38T	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										ATGACCATCTATCTGAATAAT	0.343000													37	179					0	0	0.014410	0	0
HERC3	8916	broad.mit.edu	37	4	89583679	89583679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583679C>T	ENST00000402738.1	+	11	1483	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	HERC3_ENST00000264345.3_Missense_Mutation_p.S415L|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348000													5	33					0	0	0.000602	0	0
PUS1	80324	broad.mit.edu	37	12	132425944	132425944	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:132425944C>G	ENST00000542167.2	+	4	1246	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	PUS1_ENST00000376649.3_Missense_Mutation_p.Q218E|PUS1_ENST00000443358.2_Missense_Mutation_p.Q190E|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.Q190E			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	218						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCGGGACGTTCAGGATGAGAC	0.592000													8	48					0	0	0.003080	0	0
MYH8	4626	broad.mit.edu	37	17	10303758	10303758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:10303758C>A	ENST00000403437.2	-	27	3778	c.3684G>T	c.(3682-3684)aaG>aaT	p.K1228N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1228					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTCCATCTTCAGCTCAC	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	137					2.12542e-12	3.25292e-12	0.006320	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	140744	140744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:140744T>C	ENST00000283426.6	+	1	372	c.322T>C	c.(322-324)Tcc>Ccc	p.S108P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	108					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTCAGCAGGCTCCAGGCCTGG	0.647000													10	63					0	0	0.010729	0	0
LMBRD1	55788	broad.mit.edu	37	6	70386390	70386390	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:70386390G>A	ENST00000370577.3	-	15	1690	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	LMBRD1_ENST00000370570.1_Silent_p.F414F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	487					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGAAGAACCAGAACTTGTGAA	0.383000													4	24					0	0	0.000602	0	0
STOML1	9399	broad.mit.edu	37	15	74284510	74284510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:74284510G>A	ENST00000316900.5	-	1	179	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	STOML1_ENST00000564777.1_Nonsense_Mutation_p.Q19*|STOML1_ENST00000359750.4_Nonsense_Mutation_p.Q19*|STOML1_ENST00000316911.6_Nonsense_Mutation_p.Q19*|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000561656.1_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	19						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCGACTGCTGGAAGCGGTCA	0.716000													7	55					0	0	0.001984	0	0
SHANK2	22941	broad.mit.edu	37	11	70333123	70333123	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:70333123C>T	ENST00000338508.4	-	32	3277	c.3278G>A	c.(3277-3279)cGg>cAg	p.R1093Q	SHANK2_ENST00000423696.2_Missense_Mutation_p.R713Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R496Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R497Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	713					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTTCCAGCCGCTTCTCACG	0.721000													13	347					0	0	0.003163	0	0
NKRF	55922	broad.mit.edu	37	X	118723979	118723979	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:118723979T>C	ENST00000371527.1	-	2	2061	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.Y485C|NKRF_ENST00000304449.5_Missense_Mutation_p.Y470C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CATCCTTTCATAGACATACTC	0.408000													3	81					0	0	0.004672	0	0
BRPF3	27154	broad.mit.edu	37	6	36175199	36175199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:36175199G>A	ENST00000357641.6	+	4	1968	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	BRPF3_ENST00000443324.2_Missense_Mutation_p.R572K|BRPF3_ENST00000339717.7_Missense_Mutation_p.R572K|BRPF3_ENST00000534694.1_Missense_Mutation_p.R572K|BRPF3_ENST00000534400.1_Missense_Mutation_p.R572K|BRPF3_ENST00000543502.1_Missense_Mutation_p.R572K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	572					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATTCGGAAGAGAGAGAAGCTC	0.537000													5	35					0	0	0.000602	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111953845	111953845	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:111953845A>G	ENST00000218789.5	+	20	2458	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y670C|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y680C			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	418					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GATACCGTATATGCATTAAAG	0.368000													39	37					0	0	0.014410	0	0
ARID1A	8289	broad.mit.edu	37	1	27106940	27106940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:27106940C>T	ENST00000324856.7	+	20	6922	c.6551C>T	c.(6550-6552)gCc>gTc	p.A2184V	ARID1A_ENST00000457599.2_Missense_Mutation_p.A1967V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1801V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A512V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2184					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.A2182fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCTCGTGCCATTGCAGTG	0.632000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	81					0	0	0.009096	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													4	55					0	0	0.000602	0	0
SCN1A	6323	broad.mit.edu	37	2	166894613	166894613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:166894613C>A	ENST00000423058.2	-	15	2636	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.W845C|SCN1A_ENST00000375405.3_Missense_Mutation_p.W862C|SCN1A_ENST00000303395.4_Missense_Mutation_p.W873C|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	873						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)	TTAACGTTGGCCAAGATTTTG	0.373000													11	75					2.80697e-09	4.16894e-09	0.010729	1	0
ANKH	56172	broad.mit.edu	37	5	14758660	14758660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:14758660C>T	ENST00000284268.6	-	3	691	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	121					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGACTCGTCCACATGGTGC	0.433000													12	63					0	0	0.001855	0	0
NACA	4666	broad.mit.edu	37	12	57111028	57111028	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57111028G>C	ENST00000454682.1	-	3	4567	c.4286C>G	c.(4285-4287)tCc>tGc	p.S1429C	NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTCCTTTGGATGGGGTGGC	0.592000			T	BCL6	NHL								4	37					0	0	0.000602	0	0
ANKMY1	51281	broad.mit.edu	37	2	241492385	241492385	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:241492385G>A	ENST00000391987.1	-	4	525	c.159C>T	c.(157-159)taC>taT	p.Y53Y	ANKMY1_ENST00000406958.1_Silent_p.Y142Y|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000403283.1_Silent_p.Y221Y|ANKMY1_ENST00000373320.4_Silent_p.Y53Y|ANKMY1_ENST00000361678.4_Silent_p.Y142Y|ANKMY1_ENST00000373318.2_Silent_p.Y142Y|ANKMY1_ENST00000401804.1_Silent_p.Y142Y|ANKMY1_ENST00000272972.3_Silent_p.Y53Y|ANKMY1_ENST00000405523.3_Silent_p.Y142Y|ANKMY1_ENST00000536462.1_Silent_p.Y95Y|ANKMY1_ENST00000405002.1_Silent_p.Y53Y			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	53							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGTGGCTGAGGTAAAATGTGC	0.567000													36	56					0	0	0.003755	0	0
LIG4	3981	broad.mit.edu	37	13	108862659	108862659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:108862659T>G	ENST00000356922.4	-	2	1230	c.958A>C	c.(958-960)Aaa>Caa	p.K320Q	LIG4_ENST00000405925.1_Missense_Mutation_p.K320Q|LIG4_ENST00000442234.1_Missense_Mutation_p.K320Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	320					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATATCTGCTTTGAATGCATTA	0.338000								Non-homologous end-joining					35	30					0	0	0.003271	0	0
EPHB6	2051	broad.mit.edu	37	7	142564288	142564288	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:142564288C>T	ENST00000392957.2	+	10	2299	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	EPHB6_ENST00000411471.2_Silent_p.I227I|EPHB6_ENST00000442129.1_Silent_p.I504I	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	504	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAACAGCATCACGGTGTCCT	0.592000													34	46					0	0	0.013726	0	0
CMTM8	152189	broad.mit.edu	37	3	32398887	32398887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:32398887C>T	ENST00000307526.3	+	2	464	c.170C>T	c.(169-171)aCg>aTg	p.T57M	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	57	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CTGGTATGGACGCTTATTGCT	0.483000													22	60					0	0	0.014323	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066619	9066619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:9066619G>T	ENST00000382496.5	-	17	2878	c.2213C>A	c.(2212-2214)gCt>gAt	p.A738D		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	738	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATTCGGATCAGCCAGGCGGGC	0.542000													32	150					9.78306e-22	1.54437e-21	0.009535	1	0
NMS	129521	broad.mit.edu	37	2	101097599	101097599	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:101097599G>A	ENST00000376865.1	+	8	391	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	128					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ATCACACTGCGACCTGGGGAC	0.418000													18	94					0	0	0.007413	0	0
ITGA1	3672	broad.mit.edu	37	5	52201636	52201636	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:52201636C>G	ENST00000282588.6	+	12	1811	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	451					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGATGTGCTCTATATTGCTG	0.433000													14	37					0	0	0.001855	0	0
TRA2A	29896	broad.mit.edu	37	7	23561386	23561386	+	Missense_Mutation	SNP	C	C	T	rs142235949		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:23561386C>T	ENST00000297071.4	-	2	326	c.110G>A	c.(109-111)cGt>cAt	p.R37H	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	37	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGATGGACTACGAGATCCTGA	0.413000													28	44					0	0	0.004656	0	0
RYR2	6262	broad.mit.edu	37	1	237969513	237969513	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:237969513T>C	ENST00000366574.2	+	99	14545	c.14228T>C	c.(14227-14229)cTt>cCt	p.L4743P	RYR2_ENST00000542537.1_Missense_Mutation_p.L4727P|RYR2_ENST00000360064.6_Missense_Mutation_p.L4749P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGCTCACCTTCTCGACATT	0.408000													24	35					0	0	0.014323	0	0
TANC1	85461	broad.mit.edu	37	2	160006935	160006935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:160006935G>T	ENST00000263635.6	+	7	787	c.550G>T	c.(550-552)Gca>Tca	p.A184S	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	184	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGCAGCACCGCATCTCCTAG	0.527000													16	13					1.67942e-08	2.45078e-08	0.006122	1	0
MCU	90550	broad.mit.edu	37	10	74620189	74620189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:74620189C>T	ENST00000536019.1	+	4	698	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	MCU_ENST00000357157.6_Missense_Mutation_p.R134C|MCU_ENST00000373053.3_Missense_Mutation_p.R134C	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	134					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGATGGTGTTCGCGTTGCTGC	0.358000													18	77					0	0	0.006122	0	0
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587000													20	65					0	0	0.007413	0	0
KCNT2	343450	broad.mit.edu	37	1	196295872	196295872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:196295872G>C	ENST00000367433.5	-	19	2352	c.2251C>G	c.(2251-2253)Ccc>Gcc	p.P751A	KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.P701A|KCNT2_ENST00000451324.2_Missense_Mutation_p.P362A|KCNT2_ENST00000294725.8_Missense_Mutation_p.P751A			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	751						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACTATGGGATTAAGTTCT	0.284000													3	38					0	0	0.009096	0	0
ELP4	26610	broad.mit.edu	37	11	31616423	31616423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:31616423G>A	ENST00000395934.2	+	4	495	c.488G>A	c.(487-489)cGt>cAt	p.R163H	ELP4_ENST00000379163.5_Missense_Mutation_p.R163H|ELP4_ENST00000350638.5_Missense_Mutation_p.R163H			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	163					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATAGCTTGGCGTTACCAGTTA	0.318000													6	22					0	0	0.001168	0	0
TCHH	7062	broad.mit.edu	37	1	152085381	152085381	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152085381G>A	ENST00000368804.1	-	2	311	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTTTCCGTCACACCGGG	0.527000													135	97					0	0	0.014410	0	0
NXF1	10482	broad.mit.edu	37	11	62564806	62564806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:62564806G>A	ENST00000532297.1	-	13	1735	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	NXF1_ENST00000294172.2_Missense_Mutation_p.T369M|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	369	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCGGTAACGTCGTGGGGGC	0.498000													12	76					0	0	0.010729	0	0
TRIM51	84767	broad.mit.edu	37	11	55653123	55653123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:55653123G>A	ENST00000449290.2	+	2	311	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	73						intracellular	zinc ion binding										TGAAGAACATGGCTTTCATTG	0.478000													11	13					0	0	0.008291	0	0
HDHD3	81932	broad.mit.edu	37	9	116136605	116136605	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:116136605C>T	ENST00000238379.5	-	2	927	c.30G>A	c.(28-30)ctG>ctA	p.L10L	HDHD3_ENST00000374180.3_Silent_p.L10L|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	10							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CATCCCACGTCAGCAGTCGTA	0.657000													7	40					0	0	0.004482	0	0
DSC1	1823	broad.mit.edu	37	18	28713884	28713884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:28713884C>A	ENST00000257197.3	-	13	2347	c.2086G>T	c.(2086-2088)Gct>Tct	p.A696S	DSC1_ENST00000257198.5_Missense_Mutation_p.A696S|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	696					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AACACCATAGCAAGAATAGCC	0.318000													24	23					3.10358e-05	4.40112e-05	0.014323	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059275	79059275	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:79059275A>G	ENST00000388820.4	-	19	3188	c.2978T>C	c.(2977-2979)cTc>cCc	p.L993P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	993	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACCGACAGAGTGGCAGAGA	0.652000													3	68					0	0	0.004672	0	0
WWP1	11059	broad.mit.edu	37	8	87454892	87454892	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:87454892A>G	ENST00000517970.1	+	18	2190	c.1883A>G	c.(1882-1884)tAt>tGt	p.Y628C	WWP1_ENST00000341922.2_Missense_Mutation_p.Y498C|WWP1_ENST00000349423.2_Missense_Mutation_p.Y410C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y628C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	628	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AACCCAATGTATTGCTTATTT	0.318000													18	36					0	0	0.007413	0	0
BTN1A1	696	broad.mit.edu	37	6	26505323	26505323	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26505323T>C	ENST00000244513.6	+	3	664	c.598T>C	c.(598-600)Ttc>Ctc	p.F200L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	200	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAAGGTTTGTTCACTGTGGC	0.478000													12	71					0	0	0.013537	0	0
KDM5B	10765	broad.mit.edu	37	1	202733221	202733221	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:202733221T>C	ENST00000367265.3	-	6	1928	c.764A>G	c.(763-765)aAt>aGt	p.N255S	KDM5B_ENST00000367264.2_Missense_Mutation_p.N291S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	255					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACGTCTCAGATTATGAGTTCT	0.303000													11	42					0	0	0.002450	0	0
ATXN2	6311	broad.mit.edu	37	12	111926424	111926424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:111926424G>A	ENST00000377617.3	-	15	2737	c.2576C>T	c.(2575-2577)cCg>cTg	p.P859L	ATXN2_ENST00000550104.1_Missense_Mutation_p.P859L|ATXN2_ENST00000542287.2_Missense_Mutation_p.P594L|ATXN2_ENST00000535949.1_Missense_Mutation_p.P570L|ATXN2_ENST00000389153.4_Missense_Mutation_p.P594L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	859					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGGGCTATTCGGCTTGCTGCT	0.463000													12	30					0	0	0.002450	0	0
GON4L	54856	broad.mit.edu	37	1	155744943	155744943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:155744943G>A	ENST00000437809.1	-	17	2322	c.2200C>T	c.(2200-2202)Caa>Taa	p.Q734*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q734*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q734*			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	734					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGGAGCTTTGAGCAAAGGTT	0.438000													17	129					0	0	0.002780	0	0
DYM	54808	broad.mit.edu	37	18	46889584	46889584	+	Silent	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:46889584A>T	ENST00000269445.6	-	6	898	c.441T>A	c.(439-441)ctT>ctA	p.L147L	DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	147						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTCTTCCAAAAGATCTTCTG	0.348000													6	27					0	0	0.001168	0	0
TEX15	56154	broad.mit.edu	37	8	30695359	30695359	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:30695359T>G	ENST00000256246.2	-	3	7366	c.7292A>C	c.(7291-7293)aAt>aCt	p.N2431T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2431										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTATTTAAATTTTCCTGTTG	0.358000													47	121					0	0	0.013114	0	0
GCNT2	2651	broad.mit.edu	37	6	10529730	10529730	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:10529730C>T	ENST00000379597.3	+	1	1142	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GCNT2_ENST00000495262.1_Missense_Mutation_p.P196S|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	196						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAAGACTTTCCCCTGAAAAC	0.532000													38	34					0	0	0.004878	0	0
PDE5A	8654	broad.mit.edu	37	4	120427082	120427082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:120427082C>T	ENST00000354960.3	-	17	2514	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	PDE5A_ENST00000394439.1_Missense_Mutation_p.R680Q|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.R690Q	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	732	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.G733delG(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAATTCTCCTCGCCTCCTACA	0.318000													6	39					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179552943	179552943	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:179552943C>G	ENST00000589042.1	-	127	32430	c.32206G>C	c.(32206-32208)Gag>Cag	p.E10736Q	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9492Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10419Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10419	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCCTCCTCTGCAGATACT	0.398000													19	190					0	0	0.007413	0	0
ANKRD26	22852	broad.mit.edu	37	10	27303483	27303483	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:27303483T>C	ENST00000376087.4	-	31	4829	c.4664A>G	c.(4663-4665)tAt>tGt	p.Y1555C	ANKRD26_ENST00000436985.2_Missense_Mutation_p.Y1571C|ANKRD26_ENST00000376070.3_Missense_Mutation_p.Y1112C	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1554						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAGTTGCTTATATTTTTCCAG	0.284000													17	13					0	0	0.004007	0	0
TRIM32	22954	broad.mit.edu	37	9	119461761	119461761	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:119461761C>T	ENST00000450136.1	+	2	1901	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.G580G|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	580					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCATTGCTGGCATGTGTGTGG	0.527000													52	28					0	0	0.014410	0	0
LRP1	4035	broad.mit.edu	37	12	57560805	57560805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57560805C>G	ENST00000243077.3	+	18	3356	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	964	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGGGACCGCTCTGATGA	0.657000													20	87					0	0	0.010504	0	0
CDKN2C	1031	broad.mit.edu	37	1	51439744	51439744	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:51439744G>C	ENST00000262662.1	+	4	2343	c.309G>C	c.(307-309)ggG>ggC	p.G103G	CDKN2C_ENST00000396148.1_Silent_p.G103G|CDKN2C_ENST00000371761.3_Silent_p.G103G			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	103					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ATAATGAAGGGAACCTGCCCT	0.532000			D		"""glioma, MM"""								6	59					0	0	0.001984	0	0
ANK2	287	broad.mit.edu	37	4	114095604	114095604	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:114095604C>A	ENST00000357077.4	+	2	170	c.117C>A	c.(115-117)gcC>gcA	p.A39A	ANK2_ENST00000264366.6_Silent_p.A39A|ANK2_ENST00000506722.1_Silent_p.A18A|ANK2_ENST00000394537.3_Silent_p.A39A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	39					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCGTGCTGCCAGAGCAGGCA	0.433000													6	31					0.000157383	0.000221928	0.003080	1	0
RER1	11079	broad.mit.edu	37	1	2327276	2327276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:2327276C>T	ENST00000605895.1	+	2	180	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RER1_ENST00000378518.1_Missense_Mutation_p.S16L|RER1_ENST00000378512.1_Missense_Mutation_p.S16L|RER1_ENST00000488353.1_Missense_Mutation_p.S16L|RER1_ENST00000378513.3_Missense_Mutation_p.S16L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	16					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGGAAACCTTCGGTGGTGTAC	0.413000													14	60					0	0	0.003163	0	0
STAT1	6772	broad.mit.edu	37	2	191862724	191862724	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:191862724G>A	ENST00000361099.3	-	9	1030	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	STAT1_ENST00000409465.1_Missense_Mutation_p.H215Y|STAT1_ENST00000540176.1_Missense_Mutation_p.S184L|STAT1_ENST00000392322.3_Missense_Mutation_p.H215Y|STAT1_ENST00000392323.2_Missense_Mutation_p.H217Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	215					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATTATTTTGTGAACTACTTCC	0.328000													7	72					0	0	0.001984	0	0
CALM3	808	broad.mit.edu	37	19	47111573	47111573	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:47111573A>G	ENST00000291295.9	+	3	353	c.154A>G	c.(154-156)Atg>Gtg	p.M52V	CALM3_ENST00000599839.1_Missense_Mutation_p.M16V|CALM3_ENST00000598871.1_Missense_Mutation_p.M16V|CALM3_ENST00000597743.1_Missense_Mutation_p.M52V|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000596362.1_Missense_Mutation_p.M52V|CALM3_ENST00000594523.1_Missense_Mutation_p.M16V|CALM3_ENST00000391918.2_Missense_Mutation_p.M16V	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	52	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GCTGCAGGATATGATCAATGA	0.582000													28	20					0	0	0.007291	0	0
PSMB2	5690	broad.mit.edu	37	1	36068938	36068938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:36068938C>G	ENST00000373237.3	-	6	947	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	GATTCGAACACTGAAGGTTGG	0.468000													15	74					0	0	0.004007	0	0
FCRLA	84824	broad.mit.edu	37	1	161677051	161677051	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:161677051C>T	ENST00000367959.2	+	1	290	c.48C>T	c.(46-48)gtC>gtT	p.V16V	FCRLA_ENST00000546024.1_Silent_p.V16V|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000367957.2_Silent_p.V16V|FCRLA_ENST00000540521.1_Silent_p.V16V|FCRLA_ENST00000236938.6_Silent_p.V16V|FCRLA_ENST00000367949.2_Silent_p.V16V|FCRLA_ENST00000350710.3_Silent_p.V16V|FCRLA_ENST00000349527.4_5'UTR	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	0					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TAAACACAGTCACCATGAAGC	0.463000													6	33					0	0	0.001168	0	0
NRG3	10718	broad.mit.edu	37	10	84625186	84625186	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:84625186A>T	ENST00000372142.2	+	5	658	c.384A>T	c.(382-384)gaA>gaT	p.E128D	NRG3_ENST00000537893.1_5'UTR|NRG3_ENST00000404547.1_Missense_Mutation_p.E349D|NRG3_ENST00000404576.2_Missense_Mutation_p.E153D|NRG3_ENST00000372141.2_Missense_Mutation_p.E349D|NRG3_ENST00000545131.1_5'UTR|NRG3_ENST00000556918.1_Missense_Mutation_p.E179D	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	349	Poly-Thr.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGGGGATTGAATTCATGGGTA	0.373000													12	50					0	0	0.002450	0	0
FAM47A	158724	broad.mit.edu	37	X	34148619	34148619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:34148619C>A	ENST00000346193.3	-	1	1828	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	593										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						GAAACGCACTCTTTTGTGCTT	0.468000													15	17					1.3612e-06	1.94126e-06	0.003163	1	0
TUBB4B	10383	broad.mit.edu	37	9	140137606	140137606	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:140137606G>A	ENST00000340384.4	+	4	1084	c.936G>A	c.(934-936)acG>acA	p.T312T		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	312					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										GCTACCTGACGGTTGCCGCCG	0.567000													4	116					0	0	0.000602	0	0
OR5T2	219464	broad.mit.edu	37	11	55999656	55999656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:55999656C>A	ENST00000313264.4	-	1	1081	c.1006G>T	c.(1006-1008)Gta>Tta	p.V336L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGTCTTTTACATCTTTGTTC	0.328000													17	49					1.5739e-10	2.37981e-10	0.004007	1	0
AHNAK2	113146	broad.mit.edu	37	14	105415341	105415341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:105415341T>A	ENST00000333244.5	-	7	6566	c.6447A>T	c.(6445-6447)aaA>aaT	p.K2149N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2149						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTGCTGTCTTTGGTAGTCA	0.592000													206	627					0	0	0.014410	0	0
GH2	2689	broad.mit.edu	37	17	61958488	61958488	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:61958488C>T	ENST00000332800.7	-	3	325	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GH2_ENST00000456543.2_Silent_p.K64K|GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Silent_p.K64K	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	64						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACTTCTGCTCCTTCAGGATAT	0.507000													106	79					0	0	0.014410	0	0
SCRIB	23513	broad.mit.edu	37	8	144891191	144891191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:144891191G>A	ENST00000356994.2	-	15	1709	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	SCRIB_ENST00000377533.3_Missense_Mutation_p.T487M|SCRIB_ENST00000320476.3_Missense_Mutation_p.T568M	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	568	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAAATGCACCGTGGGCTGTGC	0.657000													18	70					0	0	0.006122	0	0
GRM4	2914	broad.mit.edu	37	6	34101096	34101096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:34101096G>A	ENST00000374181.3	-	1	347	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.R60W	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	60					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCTGAGCCCCGGCCATGCACC	0.597000													6	40					0	0	0.001168	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246702	43246702	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:43246702A>G	ENST00000307275.3	+	4	823	c.387A>G	c.(385-387)gaA>gaG	p.E129E	HEXIM2_ENST00000592695.1_Silent_p.E129E|HEXIM2_ENST00000591576.1_Silent_p.E129E|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	129					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GGGTCCGCGAAGAGATGTTCG	0.627000													7	41					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)		CATGTAGTTGTAGTGGATGGT	0.572000		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)			45	25					0	0	0.009718	0	0
ZNF8	7554	broad.mit.edu	37	19	58806142	58806142	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:58806142G>T	ENST00000196548.5	+	4	1099	c.968G>T	c.(967-969)tGc>tTc	p.C323F	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGTCTTTCTGCCATAGTACA	0.557000													25	23					2.39556e-15	3.7347e-15	0.002780	1	0
GPHN	10243	broad.mit.edu	37	14	67390956	67390956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:67390956G>A	ENST00000478722.1	+	8	1896	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	GPHN_ENST00000315266.5_Intron|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000459628.1_Missense_Mutation_p.E241K|GPHN_ENST00000543237.1_Intron	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	243	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGCACACGGTGAACAGCCCAT	0.398000			T	MLL	AL								9	43					0	0	0.008291	0	0
GSG1	83445	broad.mit.edu	37	12	13243618	13243618	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:13243618G>A	ENST00000337630.6	-	2	211	c.144C>T	c.(142-144)ccC>ccT	p.P48P	GSG1_ENST00000432710.2_Silent_p.P61P|GSG1_ENST00000457134.2_Silent_p.P48P|GSG1_ENST00000537302.1_Silent_p.P48P|GSG1_ENST00000396310.2_Silent_p.P45P|GSG1_ENST00000396302.3_Silent_p.P48P|GSG1_ENST00000324458.8_Silent_p.P61P|GSG1_ENST00000351606.6_Silent_p.P61P	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	48						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCTCGCACAGGGGCTTGGGCA	0.542000													25	69					0	0	0.004656	0	0
UCHL5	51377	broad.mit.edu	37	1	192985497	192985497	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:192985497G>C	ENST00000367455.3	-	11	1209	c.974C>G	c.(973-975)gCt>gGt	p.A325G	UCHL5_ENST00000367451.4_Missense_Mutation_p.A351G|UCHL5_ENST00000367454.1_Missense_Mutation_p.A324G	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	325	Interaction with ADRM1.				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GGTTTCCTGAGCTTTCTTTGC	0.289000													12	121					0	0	0.003163	0	0
DUSP27	92235	broad.mit.edu	37	1	167088559	167088559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:167088559G>A	ENST00000361200.2	+	5	677	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	DUSP27_ENST00000271385.5_Missense_Mutation_p.G171S|DUSP27_ENST00000443333.1_Missense_Mutation_p.G171S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	171					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCATGGCACCGGCGTTTACAC	0.567000													4	37					0	0	0.009096	0	0
PRB2	653247	broad.mit.edu	37	12	11546897	11546897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:11546897C>G	ENST00000389362.4	-	3	150	c.115G>C	c.(115-117)Gca>Cca	p.A39P	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGCTCCTTGTGGA	0.502000													43	108					0	0	0.014410	0	0
STEAP2	261729	broad.mit.edu	37	7	89854672	89854672	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:89854672T>C	ENST00000287908.3	+	2	669	c.276T>C	c.(274-276)gcT>gcC	p.A92A	STEAP2_ENST00000402625.2_Silent_p.A92A|STEAP2_ENST00000394622.2_Silent_p.A92A|STEAP2_ENST00000394632.1_Silent_p.A92A|STEAP2_ENST00000394629.2_Silent_p.A92A|STEAP2_ENST00000394621.2_Silent_p.A92A|STEAP2_ENST00000394626.1_Silent_p.A92A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	92					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TATTTGTTGCTATACACAGAG	0.378000													55	59					0	0	0.014410	0	0
ARPC1B	10095	broad.mit.edu	37	7	98984357	98984357	+	Silent	SNP	C	C	T	rs144704984		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:98984357C>T	ENST00000451682.1	+	5	423	c.114C>T	c.(112-114)agC>agT	p.S38S	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.S38S|ARPC1B_ENST00000474880.1_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	38					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAAAGAGCGGTGCCAAAT	0.572000													26	156					0	0	0.005443	0	0
NIPA2	81614	broad.mit.edu	37	15	23006379	23006379	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:23006379G>A	ENST00000337451.3	-	8	1537	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	NIPA2_ENST00000398014.2_Silent_p.L309L|NIPA2_ENST00000539711.2_Silent_p.L290L|NIPA2_ENST00000398013.3_Silent_p.L309L|NIPA2_ENST00000359727.4_Silent_p.L290L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	309						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GACACAGGCAGACTTGCTAGA	0.373000													20	30					0	0	0.007413	0	0
CACNG2	10369	broad.mit.edu	37	22	37098605	37098605	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:37098605C>G	ENST00000300105.6	-	1	998	c.17G>C	c.(16-18)cGa>cCa	p.R6P		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	6					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGAACACCTCGATCAAACAG	0.468000													13	85					0	0	0.001855	0	0
ADCY2	108	broad.mit.edu	37	5	7757570	7757570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:7757570C>A	ENST00000338316.4	+	16	2054	c.1965C>A	c.(1963-1965)agC>agA	p.S655R	ADCY2_ENST00000537121.1_Missense_Mutation_p.S475R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	655					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATGCAGCAAAAAAGCCT	0.488000													73	98					2.40655e-23	3.82307e-23	0.014410	1	0
UNC5C	8633	broad.mit.edu	37	4	96140364	96140364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:96140364G>C	ENST00000453304.1	-	9	1749	c.1401C>G	c.(1399-1401)aaC>aaG	p.N467K	UNC5C_ENST00000506749.1_Missense_Mutation_p.N486K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	467					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAATTGGAGAGTTGGTCATTG	0.522000													56	259					0	0	0.014410	0	0
RORB	6096	broad.mit.edu	37	9	77286707	77286707	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:77286707C>A	ENST00000376896.2	+	9	1726	c.1114C>A	c.(1114-1116)Cga>Aga	p.R372R	RORB_ENST00000396204.2_Silent_p.R383R	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	383	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCATCAGACCGAGCCTGGCT	0.403000													23	19					3.01185e-09	4.44691e-09	0.003954	1	0
VPS13A	23230	broad.mit.edu	37	9	79917956	79917956	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:79917956A>G	ENST00000360280.3	+	34	4198	c.3938A>G	c.(3937-3939)aAt>aGt	p.N1313S	VPS13A_ENST00000376636.3_Missense_Mutation_p.N1274S|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1313S|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1313S|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1313					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAATGTAAATGCTCAGCTG	0.378000													76	37					0	0	0.014410	0	0
MMP1	4312	broad.mit.edu	37	11	102666294	102666294	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:102666294G>C	ENST00000315274.6	-	5	737	c.670C>G	c.(670-672)Ctt>Gtt	p.L224V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	224	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GAGAGTCCAAGAGAATGGCCG	0.423000													26	338					0	0	0.005443	0	0
CEP41	95681	broad.mit.edu	37	7	130039885	130039885	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:130039885T>C	ENST00000223208.4	-	10	1238	c.968A>G	c.(967-969)cAt>cGt	p.H323R	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	323					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTTACTAGGATGATCTGCAGG	0.368000													22	100					0	0	0.014323	0	0
PADI1	29943	broad.mit.edu	37	1	17552556	17552556	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:17552556G>C	ENST00000375471.4	+	6	647	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	185					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAATGCTGCTGAGCTGCAATG	0.567000													10	62					0	0	0.006214	0	0
LIPC	3990	broad.mit.edu	37	15	58840724	58840724	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:58840724A>G	ENST00000414170.3	+	7	1291	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	LIPC_ENST00000433326.2_Missense_Mutation_p.K274R|LIPC_ENST00000356113.6_Missense_Mutation_p.K335R|LIPC_ENST00000299022.5_Missense_Mutation_p.K335R			P11150	LIPC_HUMAN	lipase, hepatic	335					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCGCGGAGCAAGAGCAAGAGG	0.627000													8	17					0	0	0.003080	0	0
GNPTAB	79158	broad.mit.edu	37	12	102159938	102159938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:102159938C>G	ENST00000299314.7	-	12	1805	c.1543G>C	c.(1543-1545)Gct>Cct	p.A515P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	515					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACTTATCAGCGAGCCAGGAA	0.483000													31	114					0	0	0.008361	0	0
GTDC1	79712	broad.mit.edu	37	2	144764954	144764954	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:144764954T>A	ENST00000409214.1	-	7	948	c.670A>T	c.(670-672)Aca>Tca	p.T224S	GTDC1_ENST00000344850.4_Missense_Mutation_p.T224S|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.T224S|GTDC1_ENST00000542155.1_Missense_Mutation_p.T224S|GTDC1_ENST00000463875.2_Missense_Mutation_p.T95S|GTDC1_ENST00000392867.3_Missense_Mutation_p.T224S|GTDC1_ENST00000392869.1_Missense_Mutation_p.T224S	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	224					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCACAGTGTGTATCACACTCT	0.418000													34	33					0	0	0.013726	0	0
PRNP	5621	broad.mit.edu	37	20	4680247	4680247	+	Silent	SNP	C	C	A	rs11538754		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:4680247C>A	ENST00000379440.4	+	2	668	c.381C>A	c.(379-381)ggC>ggA	p.G127G	PRNP_ENST00000430350.2_Silent_p.G127G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	127	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GCCTTGGCGGCTACATGCTGG	0.557000													32	37					7.65355e-07	1.09774e-06	0.012213	1	0
PHF10	55274	broad.mit.edu	37	6	170112526	170112526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:170112526C>T	ENST00000339209.4	-	8	1036	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	PHF10_ENST00000366780.4_Missense_Mutation_p.E303K	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	305	Essential to induce neural progenitor proliferation (By similarity).				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CGACCATCTTCGCCATCATCT	0.458000													18	57					0	0	0.007413	0	0
MAST4	375449	broad.mit.edu	37	5	66459360	66459360	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:66459360G>A	ENST00000404260.3	+	29	4670	c.4362G>A	c.(4360-4362)tcG>tcA	p.S1454S	MAST4_ENST00000261569.7_Silent_p.S1257S|MAST4_ENST00000405643.1_Silent_p.S1272S|MAST4_ENST00000403666.1_Silent_p.S1262S|MAST4_ENST00000403625.2_Silent_p.S1451S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1454						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCTGTCGCCCTCTTACG	0.667000													10	12					0	0	0.006214	0	0
KIAA1429	25962	broad.mit.edu	37	8	95531705	95531705	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:95531705C>G	ENST00000297591.5	-	9	2097		c.e9-1		KIAA1429_ENST00000437199.1_Splice_Site|KIAA1429_ENST00000421249.2_Splice_Site	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429						mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTGAAGATATCTGTGGAAGAG	0.373000													10	57					0	0	0.006214	0	0
PGBD1	84547	broad.mit.edu	37	6	28251760	28251760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:28251760G>A	ENST00000405948.2	+	2	590	c.170G>A	c.(169-171)gGa>gAa	p.G57E	PGBD1_ENST00000259883.3_Missense_Mutation_p.G57E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	57	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGCTCACGGACCCCAGGAA	0.587000													53	52					0	0	0.014410	0	0
PACS1	55690	broad.mit.edu	37	11	65960978	65960978	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:65960978G>C	ENST00000320580.4	+	2	411	c.378G>C	c.(376-378)aaG>aaC	p.K126N		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	126					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACCCTGAAGAAACTCGTCA	0.458000													7	27					0	0	0.003080	0	0
MAP4K2	5871	broad.mit.edu	37	11	64563761	64563761	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:64563761G>T	ENST00000294066.2	-	24	1826	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	MAP4K2_ENST00000377350.3_Missense_Mutation_p.Q571K	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	579	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ATGATGCGCTGGGTGAGGCGG	0.642000													18	44					9.16793e-09	1.3457e-08	0.004990	1	0
PIP5KL1	138429	broad.mit.edu	37	9	130684360	130684360	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:130684360C>G	ENST00000388747.4	-	10	995	c.951G>C	c.(949-951)tcG>tcC	p.S317S	PIP5KL1_ENST00000300432.3_Silent_p.S114S	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	317	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTTGGGCTCTCGACTCTTCCG	0.677000													2	7					0	0	0.004672	0	0
WIF1	11197	broad.mit.edu	37	12	65461539	65461539	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:65461539G>C	ENST00000286574.4	-	5	944	c.570C>G	c.(568-570)ggC>ggG	p.G190G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	190	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CATTACAAAAGCCTCCATTTC	0.507000			T	HMGA2	pleomorphic salivary gland adenoma								9	26					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21224635	21224635	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:21224635C>G	ENST00000233242.1	-	29	13786	c.13659G>C	c.(13657-13659)aaG>aaC	p.K4553N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4553					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGAGCAAGCTTCATGTAGG	0.348000													14	76					0	0	0.001855	0	0
CDHR1	92211	broad.mit.edu	37	10	85972970	85972970	+	Missense_Mutation	SNP	C	C	T	rs148280890	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:85972970C>T	ENST00000372117.3	+	16	2009	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	CDHR1_ENST00000440770.2_Missense_Mutation_p.R340C|CDHR1_ENST00000332904.3_Missense_Mutation_p.R636C	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	636	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAATTCCATCCGCTCCCTGGA	0.587000													25	74					0	0	0.003330	0	0
RPL10A	4736	broad.mit.edu	37	6	35436736	35436736	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:35436736G>T	ENST00000322203.6	+	3	120	c.93G>T	c.(91-93)acG>acT	p.T31T	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	31					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	p.T31T(1)		breast(1)|large_intestine(2)|ovary(1)	4						TCCTGGAGACGGTGGAGTTGC	0.647000													18	19					1.01871e-10	1.54968e-10	0.008871	1	0
LCE2A	353139	broad.mit.edu	37	1	152671632	152671632	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152671632C>T	ENST00000368779.1	+	2	306	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGAGCCCCGATTGTTGTG	0.657000													120	82					0	0	0.014410	0	0
TNN	63923	broad.mit.edu	37	1	175097245	175097245	+	Silent	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:175097245T>G	ENST00000239462.4	+	14	3236	c.3123T>G	c.(3121-3123)ctT>ctG	p.L1041L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1041	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCTCCCTTGTTGCCTTTA	0.537000													8	57					0	0	0.003080	0	0
NABP1	64859	broad.mit.edu	37	2	192548983	192548983	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:192548983A>G	ENST00000410026.1	+	5	421	c.166A>G	c.(166-168)Atg>Gtg	p.M56V	NABP1_ENST00000425611.2_Missense_Mutation_p.M136V|NABP1_ENST00000409510.1_Missense_Mutation_p.M56V	NM_001031716.2|NM_001254736.1	NP_001026886.1|NP_001241665.1			nucleic acid binding protein 1																		GAATAATTCCATGAATAGTAA	0.299000													25	83					0	0	0.005443	0	0
ZNF181	339318	broad.mit.edu	37	19	35232698	35232698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:35232698G>T	ENST00000392232.3	+	6	1712	c.1544G>T	c.(1543-1545)aGt>aTt	p.S515I	ZNF181_ENST00000492450.1_Missense_Mutation_p.S471I|ZNF181_ENST00000459757.1_Missense_Mutation_p.S470I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGCCTTTAGTCATAGGTCA	0.388000													23	56					6.32553e-13	9.74054e-13	0.004656	1	0
ZNF655	79027	broad.mit.edu	37	7	99170398	99170398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:99170398C>G	ENST00000424881.1	+	4	992	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	ZNF655_ENST00000493277.1_Missense_Mutation_p.Q258E|ZNF655_ENST00000252713.4_Missense_Mutation_p.Q223E|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.Q223E|ZNF655_ENST00000425063.1_3'UTR	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	223					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AATTTTCCATCAGAGCTCAGC	0.393000													5	38					0	0	0.000602	0	0
VWC2L	402117	broad.mit.edu	37	2	215440475	215440475	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:215440475T>C	ENST00000312504.5	+	4	1402	c.600T>C	c.(598-600)tgT>tgC	p.C200C	AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	200						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TCTGTCATTGTCACAACGGGG	0.468000													3	163					0	0	0.004672	0	0
RIF1	55183	broad.mit.edu	37	2	152285383	152285383	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:152285383A>C	ENST00000243326.4	+	8	1355	c.872A>C	c.(871-873)aAg>aCg	p.K291T	RIF1_ENST00000430328.2_Missense_Mutation_p.K291T|RIF1_ENST00000433166.2_Missense_Mutation_p.K260T|RIF1_ENST00000428287.2_Missense_Mutation_p.K291T|RIF1_ENST00000453091.2_Missense_Mutation_p.K291T|RIF1_ENST00000444746.2_Missense_Mutation_p.K291T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	291					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATTAAAAAGATAGCTTTT	0.323000													8	24					0	0	0.003080	0	0
COL27A1	85301	broad.mit.edu	37	9	117044557	117044557	+	Splice_Site	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:117044557G>C	ENST00000356083.3	+	38	4109	c.3717_splice	c.e38-1	p.G1240_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1240	Collagen-like 10.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCTCTTCAGGGTCCTGAAGG	0.582000													70	40					0	0	0.014410	0	0
SV2A	9900	broad.mit.edu	37	1	149884914	149884914	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:149884914C>T	ENST00000369146.3	-	2	969	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SV2A_ENST00000369145.1_Missense_Mutation_p.G160D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	160					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGGCCGTGGCCACACTCCCG	0.617000													57	63					0	0	0.014410	0	0
PFKM	5213	broad.mit.edu	37	12	48526750	48526750	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:48526750C>A	ENST00000340802.6	+	7	774	c.550C>A	c.(550-552)Ctc>Atc	p.L184I	PFKM_ENST00000395233.2_Missense_Mutation_p.L113I|PFKM_ENST00000551804.1_Missense_Mutation_p.L113I|PFKM_ENST00000312352.7_Missense_Mutation_p.L113I|PFKM_ENST00000547587.1_Missense_Mutation_p.L113I|PFKM_ENST00000359794.5_Missense_Mutation_p.L113I	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	113					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GATCACCAATCTCTGTGTCAT	0.567000													14	60					0.00244969	0.00341596	0.002450	1	0
DMBT1	1755	broad.mit.edu	37	10	124402660	124402660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:124402660G>A	ENST00000368909.3	+	53	7094	c.6988G>A	c.(6988-6990)Gga>Aga	p.G2330R	DMBT1_ENST00000359586.6_Missense_Mutation_p.G1050R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1702R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000338354.3_Missense_Mutation_p.G2330R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1702R	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2330	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACACCTACGGACCCTACTC	0.552000													16	89					0	0	0.006122	0	0
FOXJ3	22887	broad.mit.edu	37	1	42645494	42645494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:42645494G>A	ENST00000372572.1	-	15	2067	c.1756C>T	c.(1756-1758)Cat>Tat	p.H586Y	FOXJ3_ENST00000372573.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000361776.1_Missense_Mutation_p.H552Y|FOXJ3_ENST00000361346.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000372571.1_Missense_Mutation_p.H100Y|FOXJ3_ENST00000545068.1_Missense_Mutation_p.H586Y	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	586					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCTGTGATGGCCTGGAAGG	0.493000													44	251					0	0	0.010771	0	0
HCAR3	8843	broad.mit.edu	37	12	123200718	123200718	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:123200718G>A	ENST00000528880.2	-	1	721	c.567C>T	c.(565-567)caC>caT	p.H189H	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	189						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	ACATAGCTTCGTGCCACCGGA	0.537000													17	66					0	0	0.004990	0	0
SPATS2L	26010	broad.mit.edu	37	2	201303979	201303979	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:201303979A>T	ENST00000409988.3	+	7	1103	c.580A>T	c.(580-582)Aca>Tca	p.T194S	SPATS2L_ENST00000409140.3_Missense_Mutation_p.T194S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.T202S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.T194S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000358677.4_Missense_Mutation_p.T194S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.T224S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.T194S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.T134S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	194						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TAAGGCAAAAACATCTCCTGT	0.443000													25	21					0	0	0.003330	0	0
ROS1	6098	broad.mit.edu	37	6	117641132	117641132	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:117641132G>C	ENST00000368508.3	-	36	6037	c.5839C>G	c.(5839-5841)Ctg>Gtg	p.L1947V	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.L1941V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1947	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGAGACGCAGAGTCAGTTTT	0.463000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	35					0	0	0.004007	0	0
ZBTB2	57621	broad.mit.edu	37	6	151694704	151694704	+	Silent	SNP	C	C	T	rs142578824		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:151694704C>T	ENST00000325144.4	-	2	209	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGCAGTCACACAGGAAACCAA	0.388000													7	32					0	0	0.001984	0	0
FLOT1	10211	broad.mit.edu	37	6	30698343	30698343	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:30698343C>G	ENST00000376389.3	-	11	1172		c.e11-1		FLOT1_ENST00000456573.2_Splice_Site	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1							centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCCCACGCATCTGAGGGTTAA	0.562000													43	183					0	0	0.007835	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619913	7619913	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:7619913C>T	ENST00000221249.6	+	25	3086	c.2655C>T	c.(2653-2655)caC>caT	p.H885H	PNPLA6_ENST00000545201.2_Silent_p.H858H|PNPLA6_ENST00000600737.1_Silent_p.H923H|PNPLA6_ENST00000450331.3_Silent_p.H885H|PNPLA6_ENST00000414982.3_Silent_p.H933H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	924					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCACCTGCACCTGCGCTGTC	0.711000													16	10					0	0	0.004990	0	0
ZAN	7455	broad.mit.edu	37	7	100361512	100361512	+	RNA	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:100361512G>C	ENST00000542585.1	+	0	4218				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCTGTGGACGGCTGGTCGAC	0.602000													68	79					0	0	0.014410	0	0
KDM4A	9682	broad.mit.edu	37	1	44156525	44156525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:44156525G>T	ENST00000372396.3	+	14	2181	c.2047G>T	c.(2047-2049)Gga>Tga	p.G683*		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	683					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GGTTGAATTTGGAGGCTTTAA	0.478000													7	663					0.00621372	0.00856947	0.006214	1	0
CYP2W1	54905	broad.mit.edu	37	7	1026395	1026395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:1026395G>A	ENST00000340150.6	+	5	635	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	CYP2W1_ENST00000308919.7_Missense_Mutation_p.V261M			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	261					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGACCCCGTGTGCAGCTA	0.682000													7	28					0	0	0.001984	0	0
ELOVL6	79071	broad.mit.edu	37	4	110980841	110980841	+	Silent	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:110980841T>G	ENST00000394607.3	-	4	454	c.291A>C	c.(289-291)tcA>tcC	p.S97S	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Silent_p.S97S			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	97					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GGTCACAAACTGACTGCTTCA	0.413000													10	40					0	0	0.010729	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													9	14					0	0	0.006214	0	0
MANSC1	54682	broad.mit.edu	37	12	12483163	12483163	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:12483163C>A	ENST00000535902.1	-	4	1657	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	MANSC1_ENST00000396349.3_Missense_Mutation_p.G331V|MANSC1_ENST00000545735.1_Missense_Mutation_p.G284V			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	365						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGAGGAACTGCCTGGACTGGC	0.488000													18	48					1.99824e-07	2.88251e-07	0.004990	1	0
GCC2	9648	broad.mit.edu	37	2	109086566	109086566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:109086566G>C	ENST00000309863.6	+	6	1495	c.781G>C	c.(781-783)Gca>Cca	p.A261P	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	261					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CCAGATTGAAGCATCAGCTAA	0.358000													26	91					0	0	0.004656	0	0
STAB2	55576	broad.mit.edu	37	12	104063402	104063402	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:104063402A>G	ENST00000388887.2	+	21	2460	c.2256A>G	c.(2254-2256)ggA>ggG	p.G752G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	752	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGAAATGGACAGGTGAATA	0.413000													13	67					0	0	0.001855	0	0
LRP10	26020	broad.mit.edu	37	14	23346653	23346653	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:23346653G>C	ENST00000359591.4	+	7	2750	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	687					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCCCTGGAAGATGAGGACGA	0.682000													12	46					0	0	0.013537	0	0
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:106237582C>T	ENST00000390551.2	-	0	160																											GTAGGACAGCCGGGAAGGTGT	0.637000													4	77					0	0	0.000602	0	0
PSG8	440533	broad.mit.edu	37	19	43259226	43259226	+	Missense_Mutation	SNP	G	G	C	rs150991804		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:43259226G>C	ENST00000404209.4	-	4	998	c.902C>G	c.(901-903)aCg>aGg	p.T301R	PSG8_ENST00000406636.3_Missense_Mutation_p.T179R|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T208R|PSG8_ENST00000306511.4_Missense_Mutation_p.T301R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	301	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478000													92	77					0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82545296	82545296	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:82545296A>G	ENST00000423517.2	-	7	12343	c.12006T>C	c.(12004-12006)ctT>ctC	p.L4002L	PCLO_ENST00000437081.1_Silent_p.L722L|PCLO_ENST00000333891.8_Silent_p.L4002L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3933					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACTACCAAGATGGGAAA	0.398000													141	174					0	0	0.014410	0	0
SON	6651	broad.mit.edu	37	21	34926744	34926744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr21:34926744C>T	ENST00000356577.4	+	3	5682	c.5207C>T	c.(5206-5208)cCg>cTg	p.P1736L	SON_ENST00000290239.6_Missense_Mutation_p.P1736L|SON_ENST00000300278.4_Missense_Mutation_p.P1736L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P1736L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1736					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAGTGAGACCGTTACTTCCT	0.453000													21	77					0	0	0.014323	0	0
ANKHD1	54882	broad.mit.edu	37	5	139903729	139903729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:139903729G>T	ENST00000297183.6	+	25	4520	c.4396G>T	c.(4396-4398)Gaa>Taa	p.E1466*	ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.E1466*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.E1466*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaaaaaagaggaacagaaaag	0.368000													9	14					1.76689e-08	2.56353e-08	0.006214	1	0
PRAMEF16	654348	broad.mit.edu	37	1	13495995	13495995	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:13495995C>A	ENST00000376121.3	+	2	346	c.316C>A	c.(316-318)Cgg>Agg	p.R106R		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	106												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGATTTGCGGGATGTTGA	0.522000													59	54					3.33908e-46	5.33827e-46	0.014410	1	0
PRDX2	7001	broad.mit.edu	37	19	12912075	12912075	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:12912075T>A	ENST00000301522.2	-	2	129	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PRDX2_ENST00000334482.5_Start_Codon_SNP_p.M1L|PRDX2_ENST00000435703.1_Start_Codon_SNP_p.M1L|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	1					anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGGAGGCCATGACTGAAAGC	0.617000													5	5					0	0	0.000602	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060874	48060874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:48060874C>G	ENST00000316364.5	+	18	2301	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C	SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S621C|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S602C|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000358066.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	621					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTGACAAGCTCTCGGAAATTT	0.428000													35	55					0	0	0.003755	0	0
DSP	1832	broad.mit.edu	37	6	7585071	7585071	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:7585071A>G	ENST00000379802.3	+	24	7917	c.7576A>G	c.(7576-7578)Agt>Ggt	p.S2526G	DSP_ENST00000418664.2_Missense_Mutation_p.S1927G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2526	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGACAGGCAGTCAGTATGA	0.473000													24	90					0	0	0.002780	0	0
SVOP	55530	broad.mit.edu	37	12	109328032	109328032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:109328032G>C	ENST00000299134.5	-	9	790	c.791C>G	c.(790-792)tCt>tGt	p.S264C		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CGTAGTAAGAGAATGCATTGG	0.493000													4	10					0	0	0.009096	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64641512	64641512	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:64641512T>G	ENST00000498707.1	-	5	1351	c.1009A>C	c.(1009-1011)Att>Ctt	p.I337L	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.I337L|ADAMTS9_ENST00000295903.4_Intron	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	337	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAATATTAATTAAATTTCCA	0.294000													18	6					0	0	0.006122	0	0
PRB2	653247	broad.mit.edu	37	12	11546907	11546907	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:11546907A>C	ENST00000389362.4	-	3	140	c.105T>G	c.(103-105)aaT>aaG	p.N35K	PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTTGTGGATTTCCTGGAG	0.488000													46	97					0	0	0.014410	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20169952	20169952	+	RNA	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:20169952G>T	ENST00000338912.5	-	0	319																											CGTGTCCTCAGATCTCAGGCT	0.522000													94	123					6.38947e-70	1.02805e-69	0.014410	1	0
F5	2153	broad.mit.edu	37	1	169510609	169510609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:169510609A>G	ENST00000367796.3	-	13	3935	c.3734T>C	c.(3733-3735)cTt>cCt	p.L1245P	F5_ENST00000367797.3_Missense_Mutation_p.L1240P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1240	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCTGGAGAAAGGGTTGTATG	0.527000													4	346					0	0	0.009096	0	0
HLA-G	3135	broad.mit.edu	37	6	29796426	29796426	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:29796426G>T	ENST00000428701.1	+	4	628	c.450G>T	c.(448-450)ctG>ctT	p.L150L	HLA-G_ENST00000360323.6_Silent_p.L150L|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Silent_p.L155L|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	150	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACCTCGCCCTGAACGAGGACC	0.617000													22	94					3.8784e-16	6.08425e-16	0.012319	1	0
UBN1	29855	broad.mit.edu	37	16	4903155	4903155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr16:4903155G>C	ENST00000396658.4	+	1	940	c.237G>C	c.(235-237)caG>caC	p.Q79H	UBN1_ENST00000262376.6_Missense_Mutation_p.Q79H|UBN1_ENST00000590769.1_Missense_Mutation_p.Q79H|UBN1_ENST00000545171.1_Missense_Mutation_p.Q79H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	79	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGGCCTTCAGCCTGGAGATA	0.537000													11	38					0	0	0.010729	0	0
OR2T2	401992	broad.mit.edu	37	1	248616736	248616736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:248616736C>T	ENST00000342927.3	+	1	660	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCCTCTATCTGTCATCTCT	0.537000													9	143					0	0	0.010729	0	0
LRP11	84918	broad.mit.edu	37	6	150174187	150174187	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:150174187G>A	ENST00000239367.2	-	2	728	c.723C>T	c.(721-723)gtC>gtT	p.V241V	LRP11_ENST00000367368.2_Silent_p.V241V|LRP11_ENST00000546019.1_5'UTR	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	241	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		ACTCATACTGGACGATGGCGT	0.562000													20	39					0	0	0.008871	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761382	92761382	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:92761382C>T	ENST00000318238.4	-	5	5119	c.3903G>A	c.(3901-3903)agG>agA	p.R1301R	SAMD9L_ENST00000437805.1_Silent_p.R1301R|SAMD9L_ENST00000411955.1_Silent_p.R1301R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1301										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGTATTTCCTGAAACAAC	0.343000													23	51					0	0	0.012319	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009911	8009911	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:8009911A>G	ENST00000318888.4	-	15	1467	c.596T>C	c.(595-597)cTg>cCg	p.L199P	ABLIM2_ENST00000505872.1_Missense_Mutation_p.L412P|ABLIM2_ENST00000428004.2_Missense_Mutation_p.L424P|ABLIM2_ENST00000546334.1_Missense_Mutation_p.L423P|ABLIM2_ENST00000545242.1_Missense_Mutation_p.L464P|ABLIM2_ENST00000407564.3_Missense_Mutation_p.L413P|ABLIM2_ENST00000514025.1_Missense_Mutation_p.L199P|ABLIM2_ENST00000361737.5_Missense_Mutation_p.L423P|ABLIM2_ENST00000447017.2_Missense_Mutation_p.L498P|ABLIM2_ENST00000341937.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000361581.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000296372.8_Missense_Mutation_p.L465P			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	464	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTGAGCATCAGCCAGCTGCT	0.527000													3	73					0	0	0.004672	0	0
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Missense_Mutation	SNP	G	G	A	rs147951163	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:118773004G>A	ENST00000334801.3	-	6	2412	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642000													84	81					0	0	0.014410	0	0
CLEC4E	26253	broad.mit.edu	37	12	8693386	8693386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:8693386G>T	ENST00000299663.3	-	1	173	c.8C>A	c.(7-9)tCa>tAa	p.S3*	CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.S3*|CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.S3*	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	3						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGATTTAGATGAATTCATTTT	0.363000													12	43					0.00185496	0.00304296	0.001855	1	0
EYA1	2138	broad.mit.edu	37	8	72229804	72229804	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:72229804T>C	ENST00000340726.3	-	7	1178	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	EYA1_ENST00000388743.2_Missense_Mutation_p.Y179C|EYA1_ENST00000419131.1_Missense_Mutation_p.Y175C|EYA1_ENST00000388741.2_Missense_Mutation_p.Y146C|EYA1_ENST00000303824.7_Missense_Mutation_p.Y174C|EYA1_ENST00000388740.3_Missense_Mutation_p.Y147C|EYA1_ENST00000388742.4_Missense_Mutation_p.Y180C	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	180					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGTAGCTGTATGGTGCCTG	0.438000													45	94					0	0	0.003214	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75553701	75553701	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr10:75553701A>C	ENST00000604729.1	+	12	2821	c.2524A>C	c.(2524-2526)Aca>Cca	p.T842P	ZSWIM8_ENST00000605216.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T842P|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T809P|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000431225.1_3'UTR					zinc finger, SWIM-type containing 8																		CTTCCTGTTGACAGTGCTAAG	0.562000													7	20					0	0	0.001984	0	0
HERC3	8916	broad.mit.edu	37	4	89583677	89583677	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr4:89583677C>T	ENST00000402738.1	+	11	1481	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Silent_p.L414L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	414					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GACAAAAACTCTCAGAACACA	0.343000													5	32					0	0	0.000602	0	0
SMTN	6525	broad.mit.edu	37	22	31485785	31485785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr22:31485785T>C	ENST00000333137.7	+	7	790	c.572T>C	c.(571-573)cTg>cCg	p.L191P	SMTN_ENST00000358743.1_Missense_Mutation_p.L191P|SMTN_ENST00000347557.2_Missense_Mutation_p.L191P	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	191					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACACTCCTGCTGCGAGCCCCA	0.637000													14	51					0	0	0.003163	0	0
HSD17B6	8630	broad.mit.edu	37	12	57167654	57167654	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:57167654G>A	ENST00000554643.1	+	3	367	c.18G>A	c.(16-18)gcG>gcA	p.A6A	HSD17B6_ENST00000554150.1_Silent_p.A6A|HSD17B6_ENST00000555805.1_Silent_p.A6A|HSD17B6_ENST00000322165.1_Silent_p.A6A|HSD17B6_ENST00000555159.1_Silent_p.A6A			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	6					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCTACCTGGCGGCCTTCGTGG	0.463000													14	65					0	0	0.003163	0	0
CSNK1D	1453	broad.mit.edu	37	17	80211118	80211118	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr17:80211118G>A	ENST00000314028.6	-	4	688	c.339C>T	c.(337-339)atC>atT	p.I113I	CSNK1D_ENST00000398519.5_Silent_p.I113I|CSNK1D_ENST00000392334.2_Silent_p.I113I|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	113	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGATGCGACTGATCTGTGAGC	0.552000													55	40					0	0	0.003610	0	0
CCP110	9738	broad.mit.edu	37	16	19557137	19557137	+	Splice_Site	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr16:19557137A>G	ENST00000396212.2	+	12	3139		c.e12-1		CCP110_ENST00000396208.2_Splice_Site|CCP110_ENST00000381396.5_Splice_Site	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa						centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TGTATATTAAAGGATAAAATG	0.338000													24	52					0	0	0.005443	0	0
COCH	1690	broad.mit.edu	37	14	31346874	31346874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr14:31346874C>G	ENST00000396618.3	+	4	235	c.179C>G	c.(178-180)tCt>tGt	p.S60C	COCH_ENST00000216361.4_Missense_Mutation_p.S60C|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000475087.1_Missense_Mutation_p.S60C|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	60	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAGGAATTCTCTGTGTATGGG	0.507000													9	34					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113599348	113599348	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:113599348C>G	ENST00000297405.5	-	23	4076	c.3832G>C	c.(3832-3834)Gga>Cga	p.G1278R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1174R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1278R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1238R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1278	CUB 7.					integral to membrane|plasma membrane		p.G1238*(1)|p.G1278*(1)		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						ATATTGATTCCCTTTCCTGCT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	46					0	0	0.003330	0	0
ZNF322	79692	broad.mit.edu	37	6	26638669	26638669	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:26638669A>G	ENST00000415922.2	-	4	758	c.113T>C	c.(112-114)aTa>aCa	p.I38T	ZNF322_ENST00000471278.1_Missense_Mutation_p.I38T	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										ATGACCATCTATCTGAATAAT	0.343000													37	179					0	0	0.003610	0	0
PUS1	80324	broad.mit.edu	37	12	132425944	132425944	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:132425944C>G	ENST00000542167.2	+	4	1246	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	PUS1_ENST00000440818.2_Missense_Mutation_p.Q190E|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Missense_Mutation_p.Q218E|PUS1_ENST00000443358.2_Missense_Mutation_p.Q190E			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	218						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCGGGACGTTCAGGATGAGAC	0.592000													8	48					0	0	0.003080	0	0
HERC3	8916	broad.mit.edu	37	4	89583679	89583679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr4:89583679C>T	ENST00000402738.1	+	11	1483	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Missense_Mutation_p.S415L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348000													5	33					0	0	0.000602	0	0
GNPTAB	79158	broad.mit.edu	37	12	102159938	102159938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:102159938C>G	ENST00000299314.7	-	12	1805	c.1543G>C	c.(1543-1545)Gct>Cct	p.A515P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	515					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACTTATCAGCGAGCCAGGAA	0.483000													31	114					0	0	0.001512	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140744	140744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:140744T>C	ENST00000283426.6	+	1	372	c.322T>C	c.(322-324)Tcc>Ccc	p.S108P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	108					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTCAGCAGGCTCCAGGCCTGG	0.647000													10	63					0	0	0.000978	0	0
LMBRD1	55788	broad.mit.edu	37	6	70386390	70386390	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:70386390G>A	ENST00000370577.3	-	15	1690	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	LMBRD1_ENST00000370570.1_Silent_p.F414F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	487					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGAAGAACCAGAACTTGTGAA	0.383000													4	24					0	0	0.000602	0	0
STOML1	9399	broad.mit.edu	37	15	74284510	74284510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr15:74284510G>A	ENST00000316900.5	-	1	179	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	STOML1_ENST00000561656.1_Intron|STOML1_ENST00000541638.1_5'UTR|STOML1_ENST00000359750.4_Nonsense_Mutation_p.Q19*|STOML1_ENST00000564777.1_Nonsense_Mutation_p.Q19*|STOML1_ENST00000316911.6_Nonsense_Mutation_p.Q19*	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	19						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCGACTGCTGGAAGCGGTCA	0.716000													7	55					0	0	0.001984	0	0
SHANK2	22941	broad.mit.edu	37	11	70333123	70333123	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:70333123C>T	ENST00000338508.4	-	32	3277	c.3278G>A	c.(3277-3279)cGg>cAg	p.R1093Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.R497Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R713Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R496Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	713					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTTCCAGCCGCTTCTCACG	0.721000													13	347					0	0	0.003163	0	0
NKRF	55922	broad.mit.edu	37	X	118723979	118723979	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chrX:118723979T>C	ENST00000371527.1	-	2	2061	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	NKRF_ENST00000542113.1_Missense_Mutation_p.Y485C|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.Y470C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	470					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CATCCTTTCATAGACATACTC	0.408000													3	81					0	0	0.004672	0	0
BRPF3	27154	broad.mit.edu	37	6	36175199	36175199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:36175199G>A	ENST00000357641.6	+	4	1968	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	BRPF3_ENST00000443324.2_Missense_Mutation_p.R572K|BRPF3_ENST00000534694.1_Missense_Mutation_p.R572K|BRPF3_ENST00000543502.1_Missense_Mutation_p.R572K|BRPF3_ENST00000534400.1_Missense_Mutation_p.R572K|BRPF3_ENST00000339717.7_Missense_Mutation_p.R572K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	572					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATTCGGAAGAGAGAGAAGCTC	0.537000													5	35					0	0	0.000602	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111953845	111953845	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr13:111953845A>G	ENST00000218789.5	+	20	2458	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y680C|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y670C			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	418					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GATACCGTATATGCATTAAAG	0.368000													39	37					0	0	0.003610	0	0
ARID1A	8289	broad.mit.edu	37	1	27106940	27106940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:27106940C>T	ENST00000324856.7	+	20	6922	c.6551C>T	c.(6550-6552)gCc>gTc	p.A2184V	ARID1A_ENST00000457599.2_Missense_Mutation_p.A1967V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A512V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1801V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2184					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.A2182fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCTCGTGCCATTGCAGTG	0.632000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								4	81					0	0	0.000248	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													4	55					0	0	0.000602	0	0
SCN1A	6323	broad.mit.edu	37	2	166894613	166894613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:166894613C>A	ENST00000423058.2	-	15	2636	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.W845C|SCN1A_ENST00000303395.4_Missense_Mutation_p.W873C|SCN1A_ENST00000375405.3_Missense_Mutation_p.W862C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	873						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)	TTAACGTTGGCCAAGATTTTG	0.373000													11	75					2.80697e-09	4.93757e-09	0.000978	1	0
CDK14	5218	broad.mit.edu	37	7	90547015	90547015	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:90547015G>T	ENST00000406263.1	+	7	1106	c.664G>T	c.(664-666)Ggg>Tgg	p.G222W	CDK14_ENST00000265741.3_Missense_Mutation_p.G250W|CDK14_ENST00000380050.3_Missense_Mutation_p.G268W|CDK14_ENST00000436577.2_Missense_Mutation_p.G139W			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	268	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.G250W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGTGACACGGGGGAGTTAAA	0.443000													18	95					2.35188e-11	4.26552e-11	0.006122	1	0
ANKH	56172	broad.mit.edu	37	5	14758660	14758660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:14758660C>T	ENST00000284268.6	-	3	691	c.361G>A	c.(361-363)Gac>Aac	p.D121N		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	121					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGACTCGTCCACATGGTGC	0.433000													12	63					0	0	0.001855	0	0
NACA	4666	broad.mit.edu	37	12	57111028	57111028	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:57111028G>C	ENST00000454682.1	-	3	4567	c.4286C>G	c.(4285-4287)tCc>tGc	p.S1429C	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATCTCCTTTGGATGGGGTGGC	0.592000			T	BCL6	NHL								4	37					0	0	0.000602	0	0
ANKMY1	51281	broad.mit.edu	37	2	241492385	241492385	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:241492385G>A	ENST00000391987.1	-	4	525	c.159C>T	c.(157-159)taC>taT	p.Y53Y	ANKMY1_ENST00000272972.3_Silent_p.Y53Y|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Silent_p.Y95Y|ANKMY1_ENST00000405002.1_Silent_p.Y53Y|ANKMY1_ENST00000406958.1_Silent_p.Y142Y|ANKMY1_ENST00000403283.1_Silent_p.Y221Y|ANKMY1_ENST00000405523.3_Silent_p.Y142Y|ANKMY1_ENST00000401804.1_Silent_p.Y142Y|ANKMY1_ENST00000373318.2_Silent_p.Y142Y|ANKMY1_ENST00000373320.4_Silent_p.Y53Y|ANKMY1_ENST00000361678.4_Silent_p.Y142Y			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	53							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGTGGCTGAGGTAAAATGTGC	0.567000													36	56					0	0	0.003755	0	0
PCSK2	5126	broad.mit.edu	37	20	17462446	17462446	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr20:17462446G>C	ENST00000262545.2	+	12	1963	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	PCSK2_ENST00000536609.1_Missense_Mutation_p.D515H|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.D531H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	550					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGGGCTTTGACAAGTGGCC	0.597000													11	31					0	0	0.000978	0	0
LIG4	3981	broad.mit.edu	37	13	108862659	108862659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr13:108862659T>G	ENST00000356922.4	-	2	1230	c.958A>C	c.(958-960)Aaa>Caa	p.K320Q	LIG4_ENST00000442234.1_Missense_Mutation_p.K320Q|LIG4_ENST00000405925.1_Missense_Mutation_p.K320Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	320					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATATCTGCTTTGAATGCATTA	0.338000								Non-homologous end-joining					35	30					0	0	0.003271	0	0
EPHB6	2051	broad.mit.edu	37	7	142564288	142564288	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:142564288C>T	ENST00000392957.2	+	10	2299	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	EPHB6_ENST00000411471.2_Silent_p.I227I|EPHB6_ENST00000442129.1_Silent_p.I504I	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	504	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAACAGCATCACGGTGTCCT	0.592000													34	46					0	0	0.002836	0	0
CMTM8	152189	broad.mit.edu	37	3	32398887	32398887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr3:32398887C>T	ENST00000307526.3	+	2	464	c.170C>T	c.(169-171)aCg>aTg	p.T57M	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	57	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CTGGTATGGACGCTTATTGCT	0.483000													22	60					0	0	0.002299	0	0
SEMA5A	9037	broad.mit.edu	37	5	9066619	9066619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:9066619G>T	ENST00000382496.5	-	17	2878	c.2213C>A	c.(2212-2214)gCt>gAt	p.A738D		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	738	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATTCGGATCAGCCAGGCGGGC	0.542000													32	150					9.78306e-22	1.85497e-21	0.001786	1	0
NMS	129521	broad.mit.edu	37	2	101097599	101097599	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:101097599G>A	ENST00000376865.1	+	8	391	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	128					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ATCACACTGCGACCTGGGGAC	0.418000													18	94					0	0	0.000958	0	0
ITGA1	3672	broad.mit.edu	37	5	52201636	52201636	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:52201636C>G	ENST00000282588.6	+	12	1811	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	451					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGATGTGCTCTATATTGCTG	0.433000													14	37					0	0	0.001855	0	0
TRA2A	29896	broad.mit.edu	37	7	23561386	23561386	+	Missense_Mutation	SNP	C	C	T	rs142235949		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:23561386C>T	ENST00000297071.4	-	2	326	c.110G>A	c.(109-111)cGt>cAt	p.R37H	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	37	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGATGGACTACGAGATCCTGA	0.413000													28	44					0	0	0.004656	0	0
RYR2	6262	broad.mit.edu	37	1	237969513	237969513	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:237969513T>C	ENST00000366574.2	+	99	14545	c.14228T>C	c.(14227-14229)cTt>cCt	p.L4743P	RYR2_ENST00000360064.6_Missense_Mutation_p.L4749P|RYR2_ENST00000542537.1_Missense_Mutation_p.L4727P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4743					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGCTCACCTTCTCGACATT	0.408000													24	35					0	0	0.002299	0	0
TANC1	85461	broad.mit.edu	37	2	160006935	160006935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:160006935G>T	ENST00000263635.6	+	7	787	c.550G>T	c.(550-552)Gca>Tca	p.A184S	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	184	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGCAGCACCGCATCTCCTAG	0.527000													16	13					1.67942e-08	2.88464e-08	0.006122	1	0
MCU	90550	broad.mit.edu	37	10	74620189	74620189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr10:74620189C>T	ENST00000536019.1	+	4	698	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	MCU_ENST00000373053.3_Missense_Mutation_p.R134C|MCU_ENST00000357157.6_Missense_Mutation_p.R134C	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	134					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGATGGTGTTCGCGTTGCTGC	0.358000													18	77					0	0	0.006122	0	0
ZNF181	339318	broad.mit.edu	37	19	35232698	35232698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:35232698G>T	ENST00000392232.3	+	6	1712	c.1544G>T	c.(1543-1545)aGt>aTt	p.S515I	ZNF181_ENST00000492450.1_Missense_Mutation_p.S471I|ZNF181_ENST00000459757.1_Missense_Mutation_p.S470I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGCCTTTAGTCATAGGTCA	0.388000													23	56					6.32553e-13	1.16902e-12	0.004656	1	0
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587000													20	65					0	0	0.000958	0	0
KCNT2	343450	broad.mit.edu	37	1	196295872	196295872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:196295872G>C	ENST00000367433.5	-	19	2352	c.2251C>G	c.(2251-2253)Ccc>Gcc	p.P751A	KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.P751A|KCNT2_ENST00000367431.4_Missense_Mutation_p.P701A|KCNT2_ENST00000451324.2_Missense_Mutation_p.P362A			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	751						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACTATGGGATTAAGTTCT	0.284000													3	38					0	0	0.000248	0	0
ELP4	26610	broad.mit.edu	37	11	31616423	31616423	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:31616423G>A	ENST00000395934.2	+	4	495	c.488G>A	c.(487-489)cGt>cAt	p.R163H	ELP4_ENST00000379163.5_Missense_Mutation_p.R163H|ELP4_ENST00000350638.5_Missense_Mutation_p.R163H			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	163					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATAGCTTGGCGTTACCAGTTA	0.318000													6	22					0	0	0.001168	0	0
TCHH	7062	broad.mit.edu	37	1	152085381	152085381	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:152085381G>A	ENST00000368804.1	-	2	311	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTTTCCGTCACACCGGG	0.527000													135	97					0	0	0.003610	0	0
NXF1	10482	broad.mit.edu	37	11	62564806	62564806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:62564806G>A	ENST00000532297.1	-	13	1735	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Missense_Mutation_p.T369M			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	369	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCGGTAACGTCGTGGGGGC	0.498000													12	76					0	0	0.000978	0	0
TRIM51	84767	broad.mit.edu	37	11	55653123	55653123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:55653123G>A	ENST00000449290.2	+	2	311	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	73						intracellular	zinc ion binding										TGAAGAACATGGCTTTCATTG	0.478000													11	13					0	0	0.000673	0	0
HDHD3	81932	broad.mit.edu	37	9	116136605	116136605	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr9:116136605C>T	ENST00000238379.5	-	2	927	c.30G>A	c.(28-30)ctG>ctA	p.L10L	HDHD3_ENST00000374180.3_Silent_p.L10L|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	10							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CATCCCACGTCAGCAGTCGTA	0.657000													7	40					0	0	0.004482	0	0
DSC1	1823	broad.mit.edu	37	18	28713884	28713884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr18:28713884C>A	ENST00000257197.3	-	13	2347	c.2086G>T	c.(2086-2088)Gct>Tct	p.A696S	DSC1_ENST00000257198.5_Missense_Mutation_p.A696S|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	696					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AACACCATAGCAAGAATAGCC	0.318000													24	23					3.10358e-05	5.14912e-05	0.002299	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059275	79059275	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr15:79059275A>G	ENST00000388820.4	-	19	3188	c.2978T>C	c.(2977-2979)cTc>cCc	p.L993P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	993	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACCGACAGAGTGGCAGAGA	0.652000													3	68					0	0	0.004672	0	0
WWP1	11059	broad.mit.edu	37	8	87454892	87454892	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:87454892A>G	ENST00000517970.1	+	18	2190	c.1883A>G	c.(1882-1884)tAt>tGt	p.Y628C	WWP1_ENST00000349423.2_Missense_Mutation_p.Y410C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y628C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y498C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	628	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AACCCAATGTATTGCTTATTT	0.318000													18	36					0	0	0.000958	0	0
CDHR1	92211	broad.mit.edu	37	10	85972970	85972970	+	Missense_Mutation	SNP	C	C	T	rs148280890	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr10:85972970C>T	ENST00000372117.3	+	16	2009	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	CDHR1_ENST00000332904.3_Missense_Mutation_p.R636C|CDHR1_ENST00000440770.2_Missense_Mutation_p.R340C	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	636	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAATTCCATCCGCTCCCTGGA	0.587000													25	74					0	0	0.003330	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													6	29					0	0	0.001984	0	0
BTN1A1	696	broad.mit.edu	37	6	26505323	26505323	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:26505323T>C	ENST00000244513.6	+	3	664	c.598T>C	c.(598-600)Ttc>Ctc	p.F200L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	200	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAAGGTTTGTTCACTGTGGC	0.478000													12	71					0	0	0.001368	0	0
KDM5B	10765	broad.mit.edu	37	1	202733221	202733221	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:202733221T>C	ENST00000367265.3	-	6	1928	c.764A>G	c.(763-765)aAt>aGt	p.N255S	KDM5B_ENST00000367264.2_Missense_Mutation_p.N291S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	255					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACGTCTCAGATTATGAGTTCT	0.303000													11	42					0	0	0.002450	0	0
GON4L	54856	broad.mit.edu	37	1	155744943	155744943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:155744943G>A	ENST00000437809.1	-	17	2322	c.2200C>T	c.(2200-2202)Caa>Taa	p.Q734*	GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q734*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	734					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGGAGCTTTGAGCAAAGGTT	0.438000													17	129					0	0	0.002780	0	0
DYM	54808	broad.mit.edu	37	18	46889584	46889584	+	Silent	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr18:46889584A>T	ENST00000269445.6	-	6	898	c.441T>A	c.(439-441)ctT>ctA	p.L147L	DYM_ENST00000442713.2_Intron|DYM_ENST00000578396.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	147						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTCTTCCAAAAGATCTTCTG	0.348000													6	27					0	0	0.001168	0	0
TEX15	56154	broad.mit.edu	37	8	30695359	30695359	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:30695359T>G	ENST00000256246.2	-	3	7366	c.7292A>C	c.(7291-7293)aAt>aCt	p.N2431T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2431										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTATTTAAATTTTCCTGTTG	0.358000													47	121					0	0	0.003214	0	0
GCNT2	2651	broad.mit.edu	37	6	10529730	10529730	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:10529730C>T	ENST00000379597.3	+	1	1142	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GCNT2_ENST00000495262.1_Missense_Mutation_p.P196S|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	196						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAAGACTTTCCCCTGAAAAC	0.532000													38	34					0	0	0.004878	0	0
PDE5A	8654	broad.mit.edu	37	4	120427082	120427082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr4:120427082C>T	ENST00000354960.3	-	17	2514	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	PDE5A_ENST00000264805.5_Missense_Mutation_p.R690Q|PDE5A_ENST00000394439.1_Missense_Mutation_p.R680Q|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	732	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.G733delG(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAATTCTCCTCGCCTCCTACA	0.318000													6	39					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179552943	179552943	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:179552943C>G	ENST00000589042.1	-	127	32430	c.32206G>C	c.(32206-32208)Gag>Cag	p.E10736Q	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9492Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10419Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10419	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCCTCCTCTGCAGATACT	0.398000													19	190					0	0	0.000958	0	0
ANKRD26	22852	broad.mit.edu	37	10	27303483	27303483	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr10:27303483T>C	ENST00000376087.4	-	31	4829	c.4664A>G	c.(4663-4665)tAt>tGt	p.Y1555C	ANKRD26_ENST00000436985.2_Missense_Mutation_p.Y1571C|ANKRD26_ENST00000376070.3_Missense_Mutation_p.Y1112C	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1554						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAGTTGCTTATATTTTTCCAG	0.284000													17	13					0	0	0.004007	0	0
MSX2	4488	broad.mit.edu	37	5	174156337	174156337	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:174156337G>T	ENST00000239243.6	+	2	682	c.555G>T	c.(553-555)caG>caT	p.Q185H		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	185					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAGACCCAGGTCAAAATCT	0.547000													13	58					4.36969e-10	7.78018e-10	0.001855	1	0
LRP1	4035	broad.mit.edu	37	12	57560805	57560805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:57560805C>G	ENST00000243077.3	+	18	3356	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	964	LDL-receptor class A 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGGGACCGCTCTGATGA	0.657000													20	87					0	0	0.001523	0	0
CDKN2C	1031	broad.mit.edu	37	1	51439744	51439744	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:51439744G>C	ENST00000262662.1	+	4	2343	c.309G>C	c.(307-309)ggG>ggC	p.G103G	CDKN2C_ENST00000371761.3_Silent_p.G103G|CDKN2C_ENST00000396148.1_Silent_p.G103G			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	103					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ATAATGAAGGGAACCTGCCCT	0.532000			D		"""glioma, MM"""								6	59					0	0	0.001984	0	0
ANK2	287	broad.mit.edu	37	4	114095604	114095604	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr4:114095604C>A	ENST00000357077.4	+	2	170	c.117C>A	c.(115-117)gcC>gcA	p.A39A	ANK2_ENST00000506722.1_Silent_p.A18A|ANK2_ENST00000394537.3_Silent_p.A39A|ANK2_ENST00000264366.6_Silent_p.A39A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	39					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCGTGCTGCCAGAGCAGGCA	0.433000													6	31					0.000157383	0.000259638	0.003080	1	0
RER1	11079	broad.mit.edu	37	1	2327276	2327276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:2327276C>T	ENST00000605895.1	+	2	180	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RER1_ENST00000378512.1_Missense_Mutation_p.S16L|RER1_ENST00000378518.1_Missense_Mutation_p.S16L|RER1_ENST00000378513.3_Missense_Mutation_p.S16L|RER1_ENST00000488353.1_Missense_Mutation_p.S16L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	16					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGGAAACCTTCGGTGGTGTAC	0.413000													14	60					0	0	0.003163	0	0
STAT1	6772	broad.mit.edu	37	2	191862724	191862724	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:191862724G>A	ENST00000361099.3	-	9	1030	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	STAT1_ENST00000409465.1_Missense_Mutation_p.H215Y|STAT1_ENST00000540176.1_Missense_Mutation_p.S184L|STAT1_ENST00000392323.2_Missense_Mutation_p.H217Y|STAT1_ENST00000392322.3_Missense_Mutation_p.H215Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	215					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATTATTTTGTGAACTACTTCC	0.328000													7	72					0	0	0.001984	0	0
CALM3	808	broad.mit.edu	37	19	47111573	47111573	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:47111573A>G	ENST00000291295.9	+	3	353	c.154A>G	c.(154-156)Atg>Gtg	p.M52V	CALM3_ENST00000599839.1_Missense_Mutation_p.M16V|CALM3_ENST00000598871.1_Missense_Mutation_p.M16V|CALM3_ENST00000391918.2_Missense_Mutation_p.M16V|CALM3_ENST00000596362.1_Missense_Mutation_p.M52V|CALM3_ENST00000594523.1_Missense_Mutation_p.M16V|CALM3_ENST00000597743.1_Missense_Mutation_p.M52V|CALM3_ENST00000477244.1_3'UTR	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	52	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GCTGCAGGATATGATCAATGA	0.582000													28	20					0	0	0.001271	0	0
PSMB2	5690	broad.mit.edu	37	1	36068938	36068938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:36068938C>G	ENST00000373237.3	-	6	947	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	GATTCGAACACTGAAGGTTGG	0.468000													15	74					0	0	0.004007	0	0
FCRLA	84824	broad.mit.edu	37	1	161677051	161677051	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:161677051C>T	ENST00000367959.2	+	1	290	c.48C>T	c.(46-48)gtC>gtT	p.V16V	FCRLA_ENST00000367949.2_Silent_p.V16V|FCRLA_ENST00000367957.2_Silent_p.V16V|FCRLA_ENST00000350710.3_Silent_p.V16V|FCRLA_ENST00000349527.4_5'UTR|FCRLA_ENST00000236938.6_Silent_p.V16V|FCRLA_ENST00000546024.1_Silent_p.V16V|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000540521.1_Silent_p.V16V	NM_001184866.1	NP_001171795.1	Q7L513	FCRLA_HUMAN	Fc receptor-like A	0					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TAAACACAGTCACCATGAAGC	0.463000													6	33					0	0	0.001168	0	0
NRG3	10718	broad.mit.edu	37	10	84625186	84625186	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr10:84625186A>T	ENST00000372142.2	+	5	658	c.384A>T	c.(382-384)gaA>gaT	p.E128D	NRG3_ENST00000545131.1_5'UTR|NRG3_ENST00000404547.1_Missense_Mutation_p.E349D|NRG3_ENST00000404576.2_Missense_Mutation_p.E153D|NRG3_ENST00000372141.2_Missense_Mutation_p.E349D|NRG3_ENST00000556918.1_Missense_Mutation_p.E179D|NRG3_ENST00000537893.1_5'UTR	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	349	Poly-Thr.|Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGGGGATTGAATTCATGGGTA	0.373000													12	50					0	0	0.002450	0	0
FAM47A	158724	broad.mit.edu	37	X	34148619	34148619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chrX:34148619C>A	ENST00000346193.3	-	1	1828	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	593										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						GAAACGCACTCTTTTGTGCTT	0.468000													15	17					1.3612e-06	2.28432e-06	0.003163	1	0
TUBB4B	10383	broad.mit.edu	37	9	140137606	140137606	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr9:140137606G>A	ENST00000340384.4	+	4	1084	c.936G>A	c.(934-936)acG>acA	p.T312T		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	312					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										GCTACCTGACGGTTGCCGCCG	0.567000													4	116					0	0	0.000602	0	0
OR5T2	219464	broad.mit.edu	37	11	55999656	55999656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:55999656C>A	ENST00000313264.4	-	1	1081	c.1006G>T	c.(1006-1008)Gta>Tta	p.V336L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	336					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGTCTTTTACATCTTTGTTC	0.328000													17	49					1.5739e-10	2.8195e-10	0.004007	1	0
AHNAK2	113146	broad.mit.edu	37	14	105415341	105415341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr14:105415341T>A	ENST00000333244.5	-	7	6566	c.6447A>T	c.(6445-6447)aaA>aaT	p.K2149N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2149						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTGCTGTCTTTGGTAGTCA	0.592000													206	627					0	0	0.003610	0	0
SCRIB	23513	broad.mit.edu	37	8	144891191	144891191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:144891191G>A	ENST00000356994.2	-	15	1709	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	SCRIB_ENST00000320476.3_Missense_Mutation_p.T568M|SCRIB_ENST00000377533.3_Missense_Mutation_p.T487M	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	568	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAAATGCACCGTGGGCTGTGC	0.657000													18	70					0	0	0.006122	0	0
GRM4	2914	broad.mit.edu	37	6	34101096	34101096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:34101096G>A	ENST00000374181.3	-	1	347	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	GRM4_ENST00000538487.1_Missense_Mutation_p.R60W|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	60					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCTGAGCCCCGGCCATGCACC	0.597000													6	40					0	0	0.001168	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246702	43246702	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr17:43246702A>G	ENST00000307275.3	+	4	823	c.387A>G	c.(385-387)gaA>gaG	p.E129E	HEXIM2_ENST00000591576.1_Silent_p.E129E|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Silent_p.E129E	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	129					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						GGGTCCGCGAAGAGATGTTCG	0.627000													7	41					0	0	0.001984	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972727	92972727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:92972727G>T	ENST00000523629.1	-	12	2012	c.1558C>A	c.(1558-1560)Cgt>Agt	p.R520S	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	520					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCGCTTTACGGCCACAATTC	0.458000													22	50					1.50039e-11	2.73821e-11	0.001882	1	0
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)		CATGTAGTTGTAGTGGATGGT	0.572000		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)			45	25					0	0	0.002222	0	0
ZNF8	7554	broad.mit.edu	37	19	58806142	58806142	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:58806142G>T	ENST00000196548.5	+	4	1099	c.968G>T	c.(967-969)tGc>tTc	p.C323F	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGTCTTTCTGCCATAGTACA	0.557000													25	23					2.39556e-15	4.48401e-15	0.002780	1	0
GPHN	10243	broad.mit.edu	37	14	67390956	67390956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr14:67390956G>A	ENST00000478722.1	+	8	1896	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	GPHN_ENST00000543237.1_Intron|GPHN_ENST00000459628.1_Missense_Mutation_p.E241K|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Intron|GPHN_ENST00000305960.9_Intron	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	243	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGCACACGGTGAACAGCCCAT	0.398000			T	MLL	AL								9	43					0	0	0.000673	0	0
GSG1	83445	broad.mit.edu	37	12	13243618	13243618	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:13243618G>A	ENST00000337630.6	-	2	211	c.144C>T	c.(142-144)ccC>ccT	p.P48P	GSG1_ENST00000432710.2_Silent_p.P61P|GSG1_ENST00000351606.6_Silent_p.P61P|GSG1_ENST00000324458.8_Silent_p.P61P|GSG1_ENST00000396310.2_Silent_p.P45P|GSG1_ENST00000396302.3_Silent_p.P48P|GSG1_ENST00000537302.1_Silent_p.P48P|GSG1_ENST00000457134.2_Silent_p.P48P	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	48						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCTCGCACAGGGGCTTGGGCA	0.542000													25	69					0	0	0.004656	0	0
UCHL5	51377	broad.mit.edu	37	1	192985497	192985497	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:192985497G>C	ENST00000367455.3	-	11	1209	c.974C>G	c.(973-975)gCt>gGt	p.A325G	UCHL5_ENST00000367451.4_Missense_Mutation_p.A351G|UCHL5_ENST00000367454.1_Missense_Mutation_p.A324G	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	325	Interaction with ADRM1.				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GGTTTCCTGAGCTTTCTTTGC	0.289000													12	121					0	0	0.003163	0	0
DUSP27	92235	broad.mit.edu	37	1	167088559	167088559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:167088559G>A	ENST00000361200.2	+	5	677	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	DUSP27_ENST00000443333.1_Missense_Mutation_p.G171S|DUSP27_ENST00000271385.5_Missense_Mutation_p.G171S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	171					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCATGGCACCGGCGTTTACAC	0.567000													4	37					0	0	0.000248	0	0
PRB2	653247	broad.mit.edu	37	12	11546897	11546897	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:11546897C>G	ENST00000389362.4	-	3	150	c.115G>C	c.(115-117)Gca>Cca	p.A39P	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGCTCCTTGTGGA	0.502000													43	108					0	0	0.003610	0	0
STEAP2	261729	broad.mit.edu	37	7	89854672	89854672	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:89854672T>C	ENST00000287908.3	+	2	669	c.276T>C	c.(274-276)gcT>gcC	p.A92A	STEAP2_ENST00000394629.2_Silent_p.A92A|STEAP2_ENST00000394621.2_Silent_p.A92A|STEAP2_ENST00000394622.2_Silent_p.A92A|STEAP2_ENST00000394632.1_Silent_p.A92A|STEAP2_ENST00000402625.2_Silent_p.A92A|STEAP2_ENST00000394626.1_Silent_p.A92A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	92					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TATTTGTTGCTATACACAGAG	0.378000													55	59					0	0	0.003610	0	0
ARPC1B	10095	broad.mit.edu	37	7	98984357	98984357	+	Silent	SNP	C	C	T	rs144704984		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:98984357C>T	ENST00000451682.1	+	5	423	c.114C>T	c.(112-114)agC>agT	p.S38S	ARPC1B_ENST00000252725.5_Silent_p.S38S|ARPC1B_ENST00000474880.1_3'UTR|ARPC1A_ENST00000432884.2_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	38					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAAAGAGCGGTGCCAAAT	0.572000													26	156					0	0	0.005443	0	0
NIPA2	81614	broad.mit.edu	37	15	23006379	23006379	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr15:23006379G>A	ENST00000337451.3	-	8	1537	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	NIPA2_ENST00000359727.4_Silent_p.L290L|NIPA2_ENST00000398013.3_Silent_p.L309L|NIPA2_ENST00000398014.2_Silent_p.L309L|NIPA2_ENST00000539711.2_Silent_p.L290L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	309						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GACACAGGCAGACTTGCTAGA	0.373000													20	30					0	0	0.000958	0	0
CACNG2	10369	broad.mit.edu	37	22	37098605	37098605	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr22:37098605C>G	ENST00000300105.6	-	1	998	c.17G>C	c.(16-18)cGa>cCa	p.R6P		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	6					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGAACACCTCGATCAAACAG	0.468000													13	85					0	0	0.001855	0	0
ADCY2	108	broad.mit.edu	37	5	7757570	7757570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:7757570C>A	ENST00000338316.4	+	16	2054	c.1965C>A	c.(1963-1965)agC>agA	p.S655R	ADCY2_ENST00000537121.1_Missense_Mutation_p.S475R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	655					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATGCAGCAAAAAAGCCT	0.488000													73	98					2.40655e-23	4.5929e-23	0.003610	1	0
UNC5C	8633	broad.mit.edu	37	4	96140364	96140364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr4:96140364G>C	ENST00000453304.1	-	9	1749	c.1401C>G	c.(1399-1401)aaC>aaG	p.N467K	UNC5C_ENST00000506749.1_Missense_Mutation_p.N486K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	467					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAATTGGAGAGTTGGTCATTG	0.522000													56	259					0	0	0.003610	0	0
CELF6	60677	broad.mit.edu	37	15	72608204	72608204	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr15:72608204C>T	ENST00000287202.5	-	2	581	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CELF6_ENST00000539635.1_5'UTR|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Silent_p.E109E	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	109	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GGGTCTTCTGCTCGTGCAGTG	0.632000													3	12					0	0	0.004672	0	0
RORB	6096	broad.mit.edu	37	9	77286707	77286707	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr9:77286707C>A	ENST00000376896.2	+	9	1726	c.1114C>A	c.(1114-1116)Cga>Aga	p.R372R	RORB_ENST00000396204.2_Silent_p.R383R	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	383	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TTCATCAGACCGAGCCTGGCT	0.403000													23	19					3.01185e-09	5.26623e-09	0.003954	1	0
VPS13A	23230	broad.mit.edu	37	9	79917956	79917956	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr9:79917956A>G	ENST00000360280.3	+	34	4198	c.3938A>G	c.(3937-3939)aAt>aGt	p.N1313S	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.N1313S|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1313S|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1274S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1313					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAATGTAAATGCTCAGCTG	0.378000													76	37					0	0	0.003610	0	0
MMP1	4312	broad.mit.edu	37	11	102666294	102666294	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:102666294G>C	ENST00000315274.6	-	5	737	c.670C>G	c.(670-672)Ctt>Gtt	p.L224V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	224	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GAGAGTCCAAGAGAATGGCCG	0.423000													26	338					0	0	0.005443	0	0
CEP41	95681	broad.mit.edu	37	7	130039885	130039885	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:130039885T>C	ENST00000223208.4	-	10	1238	c.968A>G	c.(967-969)cAt>cGt	p.H323R	CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	323					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTTACTAGGATGATCTGCAGG	0.368000													22	100					0	0	0.002299	0	0
PADI1	29943	broad.mit.edu	37	1	17552556	17552556	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:17552556G>C	ENST00000375471.4	+	6	647	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	185					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAATGCTGCTGAGCTGCAATG	0.567000													10	62					0	0	0.000443	0	0
LIPC	3990	broad.mit.edu	37	15	58840724	58840724	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr15:58840724A>G	ENST00000414170.3	+	7	1291	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	LIPC_ENST00000356113.6_Missense_Mutation_p.K335R|LIPC_ENST00000299022.5_Missense_Mutation_p.K335R|LIPC_ENST00000433326.2_Missense_Mutation_p.K274R			P11150	LIPC_HUMAN	lipase, hepatic	335					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCGCGGAGCAAGAGCAAGAGG	0.627000													8	17					0	0	0.003080	0	0
ATXN2	6311	broad.mit.edu	37	12	111926424	111926424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:111926424G>A	ENST00000377617.3	-	15	2737	c.2576C>T	c.(2575-2577)cCg>cTg	p.P859L	ATXN2_ENST00000389153.4_Missense_Mutation_p.P594L|ATXN2_ENST00000542287.2_Missense_Mutation_p.P594L|ATXN2_ENST00000550104.1_Missense_Mutation_p.P859L|ATXN2_ENST00000535949.1_Missense_Mutation_p.P570L	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	859					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGGGCTATTCGGCTTGCTGCT	0.463000													12	30					0	0	0.002450	0	0
GTDC1	79712	broad.mit.edu	37	2	144764954	144764954	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:144764954T>A	ENST00000409214.1	-	7	948	c.670A>T	c.(670-672)Aca>Tca	p.T224S	GTDC1_ENST00000463875.2_Missense_Mutation_p.T95S|GTDC1_ENST00000392869.1_Missense_Mutation_p.T224S|GTDC1_ENST00000542155.1_Missense_Mutation_p.T224S|GTDC1_ENST00000241391.5_Missense_Mutation_p.T224S|GTDC1_ENST00000392867.3_Missense_Mutation_p.T224S|GTDC1_ENST00000344850.4_Missense_Mutation_p.T224S|GTDC1_ENST00000409298.1_Intron	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	224					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCACAGTGTGTATCACACTCT	0.418000													34	33					0	0	0.002836	0	0
PRNP	5621	broad.mit.edu	37	20	4680247	4680247	+	Silent	SNP	C	C	A	rs11538754		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr20:4680247C>A	ENST00000379440.4	+	2	668	c.381C>A	c.(379-381)ggC>ggA	p.G127G	PRNP_ENST00000430350.2_Silent_p.G127G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	127	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GCCTTGGCGGCTACATGCTGG	0.557000													32	37					7.65355e-07	1.29181e-06	0.002445	1	0
PHF10	55274	broad.mit.edu	37	6	170112526	170112526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:170112526C>T	ENST00000339209.4	-	8	1036	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	PHF10_ENST00000366780.4_Missense_Mutation_p.E303K	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	305	Essential to induce neural progenitor proliferation (By similarity).				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CGACCATCTTCGCCATCATCT	0.458000													18	57					0	0	0.000958	0	0
KIAA1429	25962	broad.mit.edu	37	8	95531705	95531705	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr8:95531705C>G	ENST00000297591.5	-	9	2097		c.e9-1		KIAA1429_ENST00000421249.2_Splice_Site|KIAA1429_ENST00000437199.1_Splice_Site	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429						mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTGAAGATATCTGTGGAAGAG	0.373000													10	57					0	0	0.000443	0	0
PGBD1	84547	broad.mit.edu	37	6	28251760	28251760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:28251760G>A	ENST00000405948.2	+	2	590	c.170G>A	c.(169-171)gGa>gAa	p.G57E	PGBD1_ENST00000259883.3_Missense_Mutation_p.G57E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	57	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGCTCACGGACCCCAGGAA	0.587000													53	52					0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42530735	42530735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr18:42530735C>A	ENST00000282030.5	+	4	1726	c.1430C>A	c.(1429-1431)tCa>tAa	p.S477*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	477						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGTCCCCCTCAGTTGGCCTT	0.488000									Schinzel-Giedion syndrome				19	56					4.35082e-09	7.56213e-09	0.001523	1	0
MAP4K2	5871	broad.mit.edu	37	11	64563761	64563761	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:64563761G>T	ENST00000294066.2	-	24	1826	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	MAP4K2_ENST00000377350.3_Missense_Mutation_p.Q571K	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	579	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ATGATGCGCTGGGTGAGGCGG	0.642000													18	44					9.16793e-09	1.58404e-08	0.004990	1	0
PIP5KL1	138429	broad.mit.edu	37	9	130684360	130684360	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr9:130684360C>G	ENST00000388747.4	-	10	995	c.951G>C	c.(949-951)tcG>tcC	p.S317S	PIP5KL1_ENST00000300432.3_Silent_p.S114S	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	317	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTTGGGCTCTCGACTCTTCCG	0.677000													2	7					0	0	0.004672	0	0
MYH8	4626	broad.mit.edu	37	17	10303758	10303758	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr17:10303758C>A	ENST00000403437.2	-	27	3778	c.3684G>T	c.(3682-3684)aaG>aaT	p.K1228N	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1228					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTCCATCTTCAGCTCAC	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	137					2.12542e-12	3.90328e-12	0.001061	1	0
WIF1	11197	broad.mit.edu	37	12	65461539	65461539	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:65461539G>C	ENST00000286574.4	-	5	944	c.570C>G	c.(568-570)ggC>ggG	p.G190G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	190	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CATTACAAAAGCCTCCATTTC	0.507000			T	HMGA2	pleomorphic salivary gland adenoma								9	26					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21224635	21224635	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:21224635C>G	ENST00000233242.1	-	29	13786	c.13659G>C	c.(13657-13659)aaG>aaC	p.K4553N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4553					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGAGCAAGCTTCATGTAGG	0.348000													14	76					0	0	0.001855	0	0
GH2	2689	broad.mit.edu	37	17	61958488	61958488	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr17:61958488C>T	ENST00000332800.7	-	3	325	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GH2_ENST00000456543.2_Silent_p.K64K|GH2_ENST00000423893.2_Silent_p.K64K|GH2_ENST00000449787.2_Intron	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	64						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACTTCTGCTCCTTCAGGATAT	0.507000													106	79					0	0	0.003610	0	0
RPL10A	4736	broad.mit.edu	37	6	35436736	35436736	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:35436736G>T	ENST00000322203.6	+	3	120	c.93G>T	c.(91-93)acG>acT	p.T31T	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	31					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	p.T31T(1)		breast(1)|large_intestine(2)|ovary(1)	4						TCCTGGAGACGGTGGAGTTGC	0.647000													18	19					1.01871e-10	1.8362e-10	0.001216	1	0
LCE2A	353139	broad.mit.edu	37	1	152671632	152671632	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:152671632C>T	ENST00000368779.1	+	2	306	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGAGCCCCGATTGTTGTG	0.657000													120	82					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175097245	175097245	+	Silent	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:175097245T>G	ENST00000239462.4	+	14	3236	c.3123T>G	c.(3121-3123)ctT>ctG	p.L1041L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1041	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCTCCCTTGTTGCCTTTA	0.537000													8	57					0	0	0.003080	0	0
NABP1	64859	broad.mit.edu	37	2	192548983	192548983	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:192548983A>G	ENST00000410026.1	+	5	421	c.166A>G	c.(166-168)Atg>Gtg	p.M56V	NABP1_ENST00000409510.1_Missense_Mutation_p.M56V|NABP1_ENST00000425611.2_Missense_Mutation_p.M136V	NM_001031716.2|NM_001254736.1	NP_001026886.1|NP_001241665.1			nucleic acid binding protein 1																		GAATAATTCCATGAATAGTAA	0.299000													25	83					0	0	0.005443	0	0
ZNF655	79027	broad.mit.edu	37	7	99170398	99170398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:99170398C>G	ENST00000424881.1	+	4	992	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	ZNF655_ENST00000252713.4_Missense_Mutation_p.Q223E|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.Q223E|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.Q258E	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	223					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AATTTTCCATCAGAGCTCAGC	0.393000													5	38					0	0	0.000602	0	0
VWC2L	402117	broad.mit.edu	37	2	215440475	215440475	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:215440475T>C	ENST00000312504.5	+	4	1402	c.600T>C	c.(598-600)tgT>tgC	p.C200C	AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	200						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TCTGTCATTGTCACAACGGGG	0.468000													3	163					0	0	0.004672	0	0
RIF1	55183	broad.mit.edu	37	2	152285383	152285383	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:152285383A>C	ENST00000243326.4	+	8	1355	c.872A>C	c.(871-873)aAg>aCg	p.K291T	RIF1_ENST00000433166.2_Missense_Mutation_p.K260T|RIF1_ENST00000444746.2_Missense_Mutation_p.K291T|RIF1_ENST00000430328.2_Missense_Mutation_p.K291T|RIF1_ENST00000453091.2_Missense_Mutation_p.K291T|RIF1_ENST00000428287.2_Missense_Mutation_p.K291T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	291					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATTAAAAAGATAGCTTTT	0.323000													8	24					0	0	0.003080	0	0
COL27A1	85301	broad.mit.edu	37	9	117044557	117044557	+	Splice_Site	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr9:117044557G>C	ENST00000356083.3	+	38	4109	c.3717_splice	c.e38-1	p.G1240_splice		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1240	Collagen-like 10.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCTCTTCAGGGTCCTGAAGG	0.582000													70	40					0	0	0.003610	0	0
SV2A	9900	broad.mit.edu	37	1	149884914	149884914	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:149884914C>T	ENST00000369146.3	-	2	969	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SV2A_ENST00000369145.1_Missense_Mutation_p.G160D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	160					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCGGCCGTGGCCACACTCCCG	0.617000													57	63					0	0	0.003610	0	0
PFKM	5213	broad.mit.edu	37	12	48526750	48526750	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:48526750C>A	ENST00000340802.6	+	7	774	c.550C>A	c.(550-552)Ctc>Atc	p.L184I	PFKM_ENST00000395233.2_Missense_Mutation_p.L113I|PFKM_ENST00000312352.7_Missense_Mutation_p.L113I|PFKM_ENST00000551804.1_Missense_Mutation_p.L113I|PFKM_ENST00000359794.5_Missense_Mutation_p.L113I|PFKM_ENST00000547587.1_Missense_Mutation_p.L113I	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	113					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GATCACCAATCTCTGTGTCAT	0.567000													14	60					0.00244969	0.00399615	0.002450	1	0
TRIM32	22954	broad.mit.edu	37	9	119461761	119461761	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr9:119461761C>T	ENST00000450136.1	+	2	1901	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.G580G|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	580					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCATTGCTGGCATGTGTGTGG	0.527000													52	28					0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124402660	124402660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr10:124402660G>A	ENST00000368909.3	+	53	7094	c.6988G>A	c.(6988-6990)Gga>Aga	p.G2330R	DMBT1_ENST00000359586.6_Missense_Mutation_p.G1050R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1702R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1702R|DMBT1_ENST00000338354.3_Missense_Mutation_p.G2330R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000344338.3_Missense_Mutation_p.G2320R	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2330	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACACCTACGGACCCTACTC	0.552000													16	89					0	0	0.006122	0	0
FOXJ3	22887	broad.mit.edu	37	1	42645494	42645494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:42645494G>A	ENST00000372572.1	-	15	2067	c.1756C>T	c.(1756-1758)Cat>Tat	p.H586Y	FOXJ3_ENST00000372571.1_Missense_Mutation_p.H100Y|FOXJ3_ENST00000372573.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000361776.1_Missense_Mutation_p.H552Y|FOXJ3_ENST00000361346.1_Missense_Mutation_p.H586Y|FOXJ3_ENST00000545068.1_Missense_Mutation_p.H586Y	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	586					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCTGTGATGGCCTGGAAGG	0.493000													44	251					0	0	0.002522	0	0
HCAR3	8843	broad.mit.edu	37	12	123200718	123200718	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:123200718G>A	ENST00000528880.2	-	1	721	c.567C>T	c.(565-567)caC>caT	p.H189H	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	189						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	ACATAGCTTCGTGCCACCGGA	0.537000													17	66					0	0	0.004990	0	0
SPATS2L	26010	broad.mit.edu	37	2	201303979	201303979	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:201303979A>T	ENST00000409988.3	+	7	1103	c.580A>T	c.(580-582)Aca>Tca	p.T194S	SPATS2L_ENST00000409718.1_Missense_Mutation_p.T194S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.T134S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.T194S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.T202S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.T194S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409755.3_Missense_Mutation_p.T224S|SPATS2L_ENST00000358677.4_Missense_Mutation_p.T194S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	194						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TAAGGCAAAAACATCTCCTGT	0.443000													25	21					0	0	0.003330	0	0
ROS1	6098	broad.mit.edu	37	6	117641132	117641132	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:117641132G>C	ENST00000368508.3	-	36	6037	c.5839C>G	c.(5839-5841)Ctg>Gtg	p.L1947V	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.L1941V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1947	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGAGACGCAGAGTCAGTTTT	0.463000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	35					0	0	0.004007	0	0
ZBTB2	57621	broad.mit.edu	37	6	151694704	151694704	+	Silent	SNP	C	C	T	rs142578824		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:151694704C>T	ENST00000325144.4	-	2	209	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGCAGTCACACAGGAAACCAA	0.388000													7	32					0	0	0.001984	0	0
FLOT1	10211	broad.mit.edu	37	6	30698343	30698343	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:30698343C>G	ENST00000376389.3	-	11	1172		c.e11-1		FLOT1_ENST00000456573.2_Splice_Site	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1							centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCCCACGCATCTGAGGGTTAA	0.562000													43	183					0	0	0.001706	0	0
MAST4	375449	broad.mit.edu	37	5	66459360	66459360	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:66459360G>A	ENST00000404260.3	+	29	4670	c.4362G>A	c.(4360-4362)tcG>tcA	p.S1454S	MAST4_ENST00000261569.7_Silent_p.S1257S|MAST4_ENST00000405643.1_Silent_p.S1272S|MAST4_ENST00000403625.2_Silent_p.S1451S|MAST4_ENST00000403666.1_Silent_p.S1262S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1454						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCTGTCGCCCTCTTACG	0.667000													10	12					0	0	0.000443	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619913	7619913	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:7619913C>T	ENST00000221249.6	+	25	3086	c.2655C>T	c.(2653-2655)caC>caT	p.H885H	PNPLA6_ENST00000545201.2_Silent_p.H858H|PNPLA6_ENST00000450331.3_Silent_p.H885H|PNPLA6_ENST00000414982.3_Silent_p.H933H|PNPLA6_ENST00000600737.1_Silent_p.H923H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	924					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCACCTGCACCTGCGCTGTC	0.711000													16	10					0	0	0.004990	0	0
ZAN	7455	broad.mit.edu	37	7	100361512	100361512	+	RNA	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:100361512G>C	ENST00000542585.1	+	0	4218				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCTGTGGACGGCTGGTCGAC	0.602000													68	79					0	0	0.003610	0	0
CYP2W1	54905	broad.mit.edu	37	7	1026395	1026395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:1026395G>A	ENST00000340150.6	+	5	635	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	CYP2W1_ENST00000308919.7_Missense_Mutation_p.V261M			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	261					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGACCCCGTGTGCAGCTA	0.682000													7	28					0	0	0.001984	0	0
ELOVL6	79071	broad.mit.edu	37	4	110980841	110980841	+	Silent	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr4:110980841T>G	ENST00000394607.3	-	4	454	c.291A>C	c.(289-291)tcA>tcC	p.S97S	ELOVL6_ENST00000302274.3_Silent_p.S97S|ELOVL6_ENST00000506461.1_5'UTR			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	97					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GGTCACAAACTGACTGCTTCA	0.413000													10	40					0	0	0.000978	0	0
MANSC1	54682	broad.mit.edu	37	12	12483163	12483163	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:12483163C>A	ENST00000535902.1	-	4	1657	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	MANSC1_ENST00000396349.3_Missense_Mutation_p.G331V|MANSC1_ENST00000545735.1_Missense_Mutation_p.G284V			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	365						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGAGGAACTGCCTGGACTGGC	0.488000													18	48					1.99824e-07	3.39235e-07	0.004990	1	0
GCC2	9648	broad.mit.edu	37	2	109086566	109086566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:109086566G>C	ENST00000309863.6	+	6	1495	c.781G>C	c.(781-783)Gca>Cca	p.A261P	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	261					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CCAGATTGAAGCATCAGCTAA	0.358000													26	91					0	0	0.004656	0	0
STAB2	55576	broad.mit.edu	37	12	104063402	104063402	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:104063402A>G	ENST00000388887.2	+	21	2460	c.2256A>G	c.(2254-2256)ggA>ggG	p.G752G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	752	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGAAATGGACAGGTGAATA	0.413000													13	67					0	0	0.001855	0	0
LRP10	26020	broad.mit.edu	37	14	23346653	23346653	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr14:23346653G>C	ENST00000359591.4	+	7	2750	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	687					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCCCTGGAAGATGAGGACGA	0.682000													12	46					0	0	0.001368	0	0
PACS1	55690	broad.mit.edu	37	11	65960978	65960978	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:65960978G>C	ENST00000320580.4	+	2	411	c.378G>C	c.(376-378)aaG>aaC	p.K126N		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	126					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACCCTGAAGAAACTCGTCA	0.458000													7	27					0	0	0.003080	0	0
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr14:106237582C>T	ENST00000390551.2	-	0	160																											GTAGGACAGCCGGGAAGGTGT	0.637000													4	77					0	0	0.000602	0	0
PSG8	440533	broad.mit.edu	37	19	43259226	43259226	+	Missense_Mutation	SNP	G	G	C	rs150991804		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:43259226G>C	ENST00000404209.4	-	4	998	c.902C>G	c.(901-903)aCg>aGg	p.T301R	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.T179R|PSG8_ENST00000401467.2_Missense_Mutation_p.T208R|PSG8_ENST00000306511.4_Missense_Mutation_p.T301R	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	301	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478000													92	77					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82545296	82545296	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:82545296A>G	ENST00000423517.2	-	7	12343	c.12006T>C	c.(12004-12006)ctT>ctC	p.L4002L	PCLO_ENST00000333891.8_Silent_p.L4002L|PCLO_ENST00000437081.1_Silent_p.L722L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3933					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACTACCAAGATGGGAAA	0.398000													141	174					0	0	0.003610	0	0
SON	6651	broad.mit.edu	37	21	34926744	34926744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr21:34926744C>T	ENST00000356577.4	+	3	5682	c.5207C>T	c.(5206-5208)cCg>cTg	p.P1736L	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P1736L|SON_ENST00000290239.6_Missense_Mutation_p.P1736L|SON_ENST00000300278.4_Missense_Mutation_p.P1736L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1736					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAGTGAGACCGTTACTTCCT	0.453000													21	77					0	0	0.002299	0	0
ANKHD1	54882	broad.mit.edu	37	5	139903729	139903729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:139903729G>T	ENST00000297183.6	+	25	4520	c.4396G>T	c.(4396-4398)Gaa>Taa	p.E1466*	ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.E1466*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.E1466*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaaaaaagaggaacagaaaag	0.368000													9	14					1.76689e-08	3.01715e-08	0.000443	1	0
PRDX2	7001	broad.mit.edu	37	19	12912075	12912075	+	Translation_Start_Site	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:12912075T>A	ENST00000301522.2	-	2	129	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Start_Codon_SNP_p.M1L|PRDX2_ENST00000435703.1_Start_Codon_SNP_p.M1L	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	1					anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGGAGGCCATGACTGAAAGC	0.617000													5	5					0	0	0.000602	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060874	48060874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr15:48060874C>G	ENST00000316364.5	+	18	2301	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C	SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S621C|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S602C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	621					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTGACAAGCTCTCGGAAATTT	0.428000													35	55					0	0	0.003755	0	0
DSP	1832	broad.mit.edu	37	6	7585071	7585071	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:7585071A>G	ENST00000379802.3	+	24	7917	c.7576A>G	c.(7576-7578)Agt>Ggt	p.S2526G	DSP_ENST00000418664.2_Missense_Mutation_p.S1927G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2526	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGACAGGCAGTCAGTATGA	0.473000													24	90					0	0	0.002780	0	0
SVOP	55530	broad.mit.edu	37	12	109328032	109328032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:109328032G>C	ENST00000299134.5	-	9	790	c.791C>G	c.(790-792)tCt>tGt	p.S264C		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CGTAGTAAGAGAATGCATTGG	0.493000													4	10					0	0	0.000248	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64641512	64641512	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr3:64641512T>G	ENST00000498707.1	-	5	1351	c.1009A>C	c.(1009-1011)Att>Ctt	p.I337L	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.I337L|ADAMTS9_ENST00000295903.4_Intron	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	337	Peptidase M12B.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAATATTAATTAAATTTCCA	0.294000													18	6					0	0	0.006122	0	0
PRB2	653247	broad.mit.edu	37	12	11546907	11546907	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr12:11546907A>C	ENST00000389362.4	-	3	140	c.105T>G	c.(103-105)aaT>aaG	p.N35K	PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTTGTGGATTTCCTGGAG	0.488000													46	97					0	0	0.003610	0	0
F5	2153	broad.mit.edu	37	1	169510609	169510609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:169510609A>G	ENST00000367796.3	-	13	3935	c.3734T>C	c.(3733-3735)cTt>cCt	p.L1245P	F5_ENST00000367797.3_Missense_Mutation_p.L1240P			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1240	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTCTGGAGAAAGGGTTGTATG	0.527000													4	346					0	0	0.000248	0	0
HLA-G	3135	broad.mit.edu	37	6	29796426	29796426	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:29796426G>T	ENST00000428701.1	+	4	628	c.450G>T	c.(448-450)ctG>ctT	p.L150L	HLA-G_ENST00000360323.6_Silent_p.L150L|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Silent_p.L155L	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	150	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACCTCGCCCTGAACGAGGACC	0.617000													22	94					3.8784e-16	7.30641e-16	0.001882	1	0
UBN1	29855	broad.mit.edu	37	16	4903155	4903155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr16:4903155G>C	ENST00000396658.4	+	1	940	c.237G>C	c.(235-237)caG>caC	p.Q79H	UBN1_ENST00000590769.1_Missense_Mutation_p.Q79H|UBN1_ENST00000262376.6_Missense_Mutation_p.Q79H|UBN1_ENST00000545171.1_Missense_Mutation_p.Q79H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	79	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGGCCTTCAGCCTGGAGATA	0.537000													11	38					0	0	0.000978	0	0
OR2T2	401992	broad.mit.edu	37	1	248616736	248616736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr1:248616736C>T	ENST00000342927.3	+	1	660	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCCTCTATCTGTCATCTCT	0.537000													9	143					0	0	0.000978	0	0
LRP11	84918	broad.mit.edu	37	6	150174187	150174187	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:150174187G>A	ENST00000239367.2	-	2	728	c.723C>T	c.(721-723)gtC>gtT	p.V241V	LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Silent_p.V241V	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	241	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		ACTCATACTGGACGATGGCGT	0.562000													20	39					0	0	0.001216	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761382	92761382	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr7:92761382C>T	ENST00000318238.4	-	5	5119	c.3903G>A	c.(3901-3903)agG>agA	p.R1301R	SAMD9L_ENST00000411955.1_Silent_p.R1301R|SAMD9L_ENST00000437805.1_Silent_p.R1301R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1301										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGTATTTCCTGAAACAAC	0.343000													23	51					0	0	0.001882	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009911	8009911	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr4:8009911A>G	ENST00000318888.4	-	15	1467	c.596T>C	c.(595-597)cTg>cCg	p.L199P	ABLIM2_ENST00000407564.3_Missense_Mutation_p.L413P|ABLIM2_ENST00000361581.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000514025.1_Missense_Mutation_p.L199P|ABLIM2_ENST00000341937.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000296372.8_Missense_Mutation_p.L465P|ABLIM2_ENST00000428004.2_Missense_Mutation_p.L424P|ABLIM2_ENST00000361737.5_Missense_Mutation_p.L423P|ABLIM2_ENST00000546334.1_Missense_Mutation_p.L423P|ABLIM2_ENST00000545242.1_Missense_Mutation_p.L464P|ABLIM2_ENST00000447017.2_Missense_Mutation_p.L498P|ABLIM2_ENST00000505872.1_Missense_Mutation_p.L412P			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	464	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTGAGCATCAGCCAGCTGCT	0.527000													3	73					0	0	0.004672	0	0
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Missense_Mutation	SNP	G	G	A	rs147951163	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:118773004G>A	ENST00000334801.3	-	6	2412	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642000													84	81					0	0	0.003610	0	0
AFF3	3899	broad.mit.edu	37	2	100209981	100209984	+	Frame_Shift_Del	DEL	GTTG	GTTG	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:100209981_100209984delGTTG	ENST00000317233.4	-	14	2374_2377	c.2139_2142delCAAC	c.(2137-2142)gcfs	p.AN713fs	AFF3_ENST00000409579.1_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.AN713fs	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	713					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACTGCCCCCGTTGGCAGCGGCCT	0.627													37	42	---	---	---	---					
TGFBI	7045	broad.mit.edu	37	5	135388800	135388801	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:135388800_135388801delCA	ENST00000442011.2	+	8	1279_1280	c.1118_1119delCA	c.(1117-1119)cfs	p.P373fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.P373fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	373					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTACTCATCCCAGACTCAGGTA	0.569													11	37	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26426984	26426984	+	RNA	DEL	T	T	-	rs79308421		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26426984delT	ENST00000466808.2	+	0	1067																											GAACCTAGTCTTTTTTTTTTT	0.428													2	4	---	---	---	---					
CCDC15	80071	broad.mit.edu	37	11	124908334	124908334	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:124908334delA	ENST00000529051.1	+	14	2678	c.2419delA	c.(2419-2421)aafs	p.K808fs	CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K808fs|CCDC15_ENST00000530061.1_3'UTR			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	808						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CAGAATTAAGAAAAAGAGAGA	0.313													2	4	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684394	26684395	+	Splice_Site	INS	-	-	G	rs113730440		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:26684394_26684395insG	ENST00000540200.1	-	1	78		c.e1+1		POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2							mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGAGCGGCTTTGCCACCGGGCC	0.762													3	6	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088189	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17088187_17088189delGAA	ENST00000443236.1	-	15	1919_1921	c.1888_1890delTTC	c.(1888-1890)del	p.F630del	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCTCG	0.611													21	112	---	---	---	---					
CXorf57	55086	broad.mit.edu	37	X	105868408	105868408	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:105868408delT	ENST00000372548.4	+	3	984	c.875delT	c.(874-876)gtfs	p.V292fs	CXorf57_ENST00000372544.2_Frame_Shift_Del_p.V292fs	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	292										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTTTGCGGGTTGGTTTAGTT	0.408													47	41	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100209981	100209984	+	Frame_Shift_Del	DEL	GTTG	GTTG	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr2:100209981_100209984delGTTG	ENST00000317233.4	-	14	2374_2377	c.2139_2142delCAAC	c.(2137-2142)gcfs	p.AN713fs	AFF3_ENST00000409579.1_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000356421.2_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000409236.1_Frame_Shift_Del_p.AN713fs	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	713					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACTGCCCCCGTTGGCAGCGGCCT	0.627													37	42	---	---	---	---					
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	RNA	DEL	A	A	-	rs140144338		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1																						CCTGTCCCAGAAAAAAAAAAA	0.388													2	4	---	---	---	---					
TGFBI	7045	broad.mit.edu	37	5	135388800	135388801	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr5:135388800_135388801delCA	ENST00000442011.2	+	8	1279_1280	c.1118_1119delCA	c.(1117-1119)cfs	p.P373fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.P373fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	373					angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTACTCATCCCAGACTCAGGTA	0.569													11	37	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													8	11	---	---	---	---					
CCDC15	80071	broad.mit.edu	37	11	124908334	124908334	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr11:124908334delA	ENST00000529051.1	+	14	2678	c.2419delA	c.(2419-2421)aafs	p.K808fs	CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K808fs|CCDC15_ENST00000530061.1_3'UTR			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	808						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CAGAATTAAGAAAAAGAGAGA	0.313													2	4	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088189	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chr19:17088187_17088189delGAA	ENST00000443236.1	-	15	1919_1921	c.1888_1890delTTC	c.(1888-1890)del	p.F630del	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCTCG	0.611													21	112	---	---	---	---					
CXorf57	55086	broad.mit.edu	37	X	105868408	105868408	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1758147b-cb09-430b-a8cb-6a144744a79f	587d051a-9514-43de-a582-8cfd48c7355d	g.chrX:105868408delT	ENST00000372548.4	+	3	984	c.875delT	c.(874-876)gtfs	p.V292fs	CXorf57_ENST00000372544.2_Frame_Shift_Del_p.V292fs	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	292										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTTTGCGGGTTGGTTTAGTT	0.408													47	41	---	---	---	---					
