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
ATG2A	23130	broad.mit.edu	37	11	64678743	64678743	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64678743C>T	ENST00000421419.2	-	10	1347	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	ATG2A_ENST00000377264.3_Silent_p.K411K			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	411							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGGGCCATCTTGCCTGAGG	0.632000													28	46					0	0	0.324025	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660299	50660299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:50660299G>A	ENST00000439308.2	-	16	2981	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T830M|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	830					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCCGGAGACGTGACCTGAAA	0.622000													6	32					0	0	0.278610	0	0
RAMP1	10267	broad.mit.edu	37	2	238785963	238785963	+	Silent	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:238785963C>A	ENST00000254661.4	+	2	282	c.150C>A	c.(148-150)gcC>gcA	p.A50A	RAMP1_ENST00000409726.1_Silent_p.A28A|RAMP1_ENST00000403885.1_Silent_p.A28A|RAMP1_ENST00000404910.2_Silent_p.A28A	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	50					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	ACATGGAGGCCGTCGGGGAGA	0.657000													19	61					1.01871e-10	1.10203e-10	0.204396	1	0
SFMBT2	57713	broad.mit.edu	37	10	7409703	7409703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:7409703C>T	ENST00000361972.4	-	4	434	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SFMBT2_ENST00000397160.3_Missense_Mutation_p.R115H|SFMBT2_ENST00000397167.1_Missense_Mutation_p.R115H|SFMBT2_ENST00000379713.3_Missense_Mutation_p.R115H|SFMBT2_ENST00000379711.2_Missense_Mutation_p.R115H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	115					regulation of transcription, DNA-dependent	nucleus		p.R115H(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTCGGCCCTGCGGTCCTCCCC	0.612000													7	35					0	0	0.278610	0	0
CRB1	23418	broad.mit.edu	37	1	197396601	197396601	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:197396601T>C	ENST00000367397.1	+	3	1147	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L	CRB1_ENST00000367399.2_Missense_Mutation_p.F604L|CRB1_ENST00000535699.1_Missense_Mutation_p.F647L|CRB1_ENST00000367400.3_Missense_Mutation_p.F716L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.F197L			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	716	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGCAGGCAGATTTGGCCAGGA	0.433000													5	31					0	0	0.248553	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57990070	57990070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:57990070G>A	ENST00000225577.4	+	3	238	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E73K|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E73K|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.E20K	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	73					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGAGAAATTTGAAATCTCAGA	0.373000													17	115					0	0	0.146539	0	0
PRKDC	5591	broad.mit.edu	37	8	48798673	48798673	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:48798673C>T	ENST00000314191.2	-	37	4661	c.4605G>A	c.(4603-4605)gcG>gcA	p.A1535A	PRKDC_ENST00000338368.3_Silent_p.A1535A|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1536	Interaction with C1D.|Leucine-zipper.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGACAGCACCGCTGGGTTCA	0.527000								Non-homologous end-joining					17	23					0	0	0.146539	0	0
CCDC89	220388	broad.mit.edu	37	11	85396236	85396236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:85396236C>T	ENST00000316398.3	-	1	1084	c.938G>A	c.(937-939)cGg>cAg	p.R313Q		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	313						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTGCTCAAACCGCTCCAGCGC	0.512000													14	51					0	0	0.132662	0	0
LOC440700	440700	broad.mit.edu	37	1	165678677	165678677	+	RNA	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:165678677G>C	ENST00000400982.2	+	0	688					NR_036683.1																						TTCATGGCTAGAAGGCTTCAG	0.483000													5	15					0	0	0.217242	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656665	40656665	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:40656665C>G	ENST00000406785.1	-	2	945	c.756G>C	c.(754-756)gcG>gcC	p.A252A	SLC8A1_ENST00000405269.1_Silent_p.A252A|SLC8A1_ENST00000408028.2_Silent_p.A252A|SLC8A1_ENST00000402441.1_Silent_p.A252A|SLC8A1_ENST00000405901.3_Silent_p.A252A|SLC8A1_ENST00000332839.4_Silent_p.A252A|SLC8A1_ENST00000542024.1_Silent_p.A252A|SLC8A1_ENST00000406391.2_Silent_p.A252A|SLC8A1_ENST00000403092.1_Silent_p.A252A|SLC8A1_ENST00000542756.1_Silent_p.A252A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	252					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCTCCTATCCGCTACCCAAG	0.443000													18	107					0	0	0.189662	0	0
LNPEP	4012	broad.mit.edu	37	5	96314937	96314937	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:96314937C>G	ENST00000231368.5	+	2	807	c.115C>G	c.(115-117)Cta>Gta	p.L39V	LNPEP_ENST00000395770.3_Missense_Mutation_p.L25V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	39					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTTACATCCTCTAGAGCCTGA	0.498000													11	74					0	0	0.080935	0	0
C4orf50	389197	broad.mit.edu	37	4	5961120	5961120	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5961120C>T	ENST00000531445.1	-	7	2281	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	C4orf50_ENST00000324058.5_Silent_p.P271P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	271										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTAACTCCAGCGGTGATTTAT	0.458000													16	100					0	0	0.146539	0	0
DEF8	54849	broad.mit.edu	37	16	90016035	90016035	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:90016035G>A	ENST00000268676.7	+	2	251	c.162G>A	c.(160-162)acG>acA	p.T54T	DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	54					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CGGGCAGGACGCGGGAGGCCA	0.677000													10	48					0	0	0.361761	0	0
TIE1	7075	broad.mit.edu	37	1	43778831	43778831	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:43778831C>T	ENST00000372476.3	+	13	2032	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	TIE1_ENST00000433781.2_Silent_p.H296H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	651	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACACCTCCACGCCCAGGCCC	0.637000													6	45					0	0	0.217242	0	0
NKD1	85407	broad.mit.edu	37	16	50583366	50583366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:50583366G>A	ENST00000268459.3	+	3	316	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	31					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GCCTGGGCTCGGAAGGGCATC	0.692000													6	21					0	0	0.217242	0	0
EFCAB6	64800	broad.mit.edu	37	22	44079707	44079707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:44079707C>A	ENST00000262726.7	-	12	1424	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.E239*|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGATGTTTTCCTTGTGAGAT	0.343000													21	91					1.28384e-07	1.36349e-07	0.234183	1	0
GRIN2A	2903	broad.mit.edu	37	16	9934948	9934948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:9934948C>T	ENST00000396573.2	-	7	1651	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E291K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E448K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E448K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	448					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCATCCCCTCATTGGTTGAA	0.408000													14	60					0	0	0.132662	0	0
DHRS4	10901	broad.mit.edu	37	14	24424278	24424278	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:24424278G>T	ENST00000313250.5	+	2	366	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	DHRS4_ENST00000559632.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000558263.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000382761.3_Missense_Mutation_p.D37Y|DHRS4_ENST00000543741.2_Missense_Mutation_p.D55Y|DHRS4_ENST00000421831.1_Missense_Mutation_p.D37Y|DHRS4_ENST00000397073.2_Missense_Mutation_p.D37Y|DHRS4_ENST00000308178.8_Missense_Mutation_p.D37Y|DHRS4_ENST00000397075.3_Missense_Mutation_p.D55Y|DHRS4_ENST00000397074.3_Missense_Mutation_p.D55Y|DHRS4_ENST00000558581.1_Missense_Mutation_p.D55Y	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	55						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TTTGGCCCAGGACGGGGCCCA	0.647000													15	81					8.60227e-14	9.41076e-14	0.146539	1	0
BPIFA3	128861	broad.mit.edu	37	20	31813054	31813054	+	Splice_Site	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:31813054G>T	ENST00000375454.3	+	4	746		c.e4+1		BPIFA3_ENST00000375452.3_Splice_Site|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3							extracellular region	lipid binding										TCCTCACTGAGTAAGACCCCA	0.577000													9	84					0.00448238	0.00459286	0.307466	1	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													3	39					0	0	0.150653	0	0
TAF9	6880	broad.mit.edu	37	5	68660814	68660814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:68660814C>T	ENST00000328663.4	-	3	1217	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.D251N|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.D251N	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		tcatcatcatcatcttcaCGT	0.323000													7	49					0	0	0.248553	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390837	8390837	+	Silent	SNP	C	C	T	rs149921947	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:8390837C>T	ENST00000471889.1	+	5	1669	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.S462S|SLC45A1_ENST00000289877.8_Silent_p.S428S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	428					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGACCTCCGGCTGTGACG	0.657000													12	82					0	0	0.105934	0	0
MAST4	375449	broad.mit.edu	37	5	66398375	66398375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:66398375C>T	ENST00000404260.3	+	9	1399	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	MAST4_ENST00000405643.1_Missense_Mutation_p.S182F|MAST4_ENST00000490016.2_Missense_Mutation_p.S172F|MAST4_ENST00000403625.2_Missense_Mutation_p.S361F|MAST4_ENST00000261569.7_Missense_Mutation_p.S167F|MAST4_ENST00000403666.1_Missense_Mutation_p.S172F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	364						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)		CCTGGACGTTCTCCCGCCTGC	0.373000													16	59					0	0	0.132662	0	0
ANO6	196527	broad.mit.edu	37	12	45810577	45810577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:45810577G>A	ENST00000320560.8	+	17	2309	c.2107G>A	c.(2107-2109)Gca>Aca	p.A703T	ANO6_ENST00000435642.1_Missense_Mutation_p.A703T|ANO6_ENST00000425752.2_Missense_Mutation_p.A703T|ANO6_ENST00000423947.3_Missense_Mutation_p.A724T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.A685T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	703					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAGAGTGGACGCATGGAAACT	0.483000													9	28					0	0	0.307466	0	0
PSG1	5669	broad.mit.edu	37	19	43382154	43382154	+	Missense_Mutation	SNP	C	C	T	rs142473373		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:43382154C>T	ENST00000244296.2	-	2	478	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	PSG1_ENST00000595124.1_Missense_Mutation_p.R114Q|PSG1_ENST00000436291.2_Missense_Mutation_p.R114Q|PSG1_ENST00000403380.3_Missense_Mutation_p.R114Q|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.R114Q|PSG1_ENST00000312439.6_Missense_Mutation_p.R114Q	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATT	0.453000													149	136					0	0	0.323286	0	0
LIMA1	51474	broad.mit.edu	37	12	50616056	50616056	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:50616056G>A	ENST00000341247.4	-	4	527	c.378C>T	c.(376-378)ccC>ccT	p.P126P	LIMA1_ENST00000394943.3_Silent_p.P126P|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	126					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GTCTAGATCTGGGGTGGATTT	0.512000													11	60					0	0	0.105934	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964589	119964589	+	Silent	SNP	G	G	A	rs114527791	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:119964589G>A	ENST00000543831.1	+	4	714	c.465G>A	c.(463-465)ccG>ccA	p.P155P	HSD3B2_ENST00000369416.3_Silent_p.P155P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	155			P -> L (in AH2; nonsalt-wasting form).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTCCATACCCGTACAGCAAAA	0.498000													21	74					0	0	0.219247	0	0
JMJD1C	221037	broad.mit.edu	37	10	64979732	64979732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:64979732G>C	ENST00000399262.2	-	4	677	c.459C>G	c.(457-459)gaC>gaG	p.D153E	JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000542921.1_5'UTR|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	153					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGTTTAGGCTGTCTATGTCGT	0.423000													17	70					0	0	0.189662	0	0
HIF3A	64344	broad.mit.edu	37	19	46832529	46832529	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:46832529C>G	ENST00000339613.2	+	12	1593	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	HIF3A_ENST00000420102.2_Silent_p.L451L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Silent_p.L433L|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000377670.4_Silent_p.L502L|HIF3A_ENST00000300862.3_Silent_p.L500L|HIF3A_ENST00000600383.1_Silent_p.L433L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACTTCCAGCTCAACGCCAGCG	0.632000													17	81					0	0	0.160694	0	0
GDF2	2658	broad.mit.edu	37	10	48414496	48414496	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:48414496C>T	ENST00000249598.1	-	2	531	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	124					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGGGGAAGTCCTCTGTGGCAG	0.507000													3	21					0	0	0.115264	0	0
SLC39A14	23516	broad.mit.edu	37	8	22266000	22266000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:22266000G>A	ENST00000381237.1	+	3	567	c.448G>A	c.(448-450)Gct>Act	p.A150T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A150T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A150T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A150T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	150						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GCGGCCAAGCGCTGTTGAAGG	0.642000													4	19					0	0	0.150653	0	0
DMGDH	29958	broad.mit.edu	37	5	78338269	78338269	+	Nonsense_Mutation	SNP	G	G	A	rs143021634	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:78338269G>A	ENST00000255189.3	-	7	1058	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Nonsense_Mutation_p.R143*	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	344					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCATGATTCGATCTAGATCA	0.423000													11	64					0	0	0.132662	0	0
NTRK3	4916	broad.mit.edu	37	15	88483978	88483978	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:88483978T>C	ENST00000394480.1	-	15	1913	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	NTRK3_ENST00000557856.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q531R|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q531R|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q433R|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q523R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	531					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTAATGTGCTGCACATCTGT	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			20	78					0	0	0.234183	0	0
FSTL4	23105	broad.mit.edu	37	5	132652228	132652228	+	Missense_Mutation	SNP	G	G	A	rs139711882	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:132652228G>A	ENST00000265342.7	-	5	775	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	176	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCAGGAGGCGCTTCTGGGAG	0.587000											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	38					0	0	0.093190	0	0
CAV3	859	broad.mit.edu	37	3	8787388	8787388	+	Silent	SNP	C	C	T	rs116840802		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:8787388C>T	ENST00000343849.2	+	2	368	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Silent_p.F97F	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	97	Required for interaction with DAG1.		F -> C (in LQT9; increase in late sodium current).|Missing (in HYPCK).		cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCATCTCCTTCTGCCACATCT	0.582000													4	15					0	0	0.150653	0	0
CXorf58	254158	broad.mit.edu	37	X	23928433	23928433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:23928433C>T	ENST00000379211.3	+	2	563	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	5										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AATCGTTCCTCAAATGTACCA	0.348000													7	10					0	0	0.248553	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739793	46739793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:46739793C>G	ENST00000306448.4	-	2	1171	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E20Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	20					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTCCTGCTCAATGAAAGCC	0.507000													10	53					0	0	0.335167	0	0
OR4A15	81328	broad.mit.edu	37	11	55135812	55135812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:55135812C>A	ENST00000314706.3	+	1	453	c.453C>A	c.(451-453)taC>taA	p.Y151*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGATCGATACATGGCCATCT	0.438000													35	154					4.3181e-19	4.74176e-19	0.173368	1	0
MAP6	4135	broad.mit.edu	37	11	75299192	75299192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:75299192G>A	ENST00000304771.3	-	4	2104	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	MAP6_ENST00000526689.1_5'UTR|CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Nonsense_Mutation_p.Q123*	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	452						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACAGGACCTTGAGTCTTACTT	0.537000													16	53					0	0	0.146539	0	0
MAP3K14	9020	broad.mit.edu	37	17	43368116	43368116	+	RNA	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:43368116C>A	ENST00000344686.2	-	0	104							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCCATCTCCCAGGCTTGTGC	0.592000													13	82					6.31663e-08	6.73311e-08	0.132662	1	0
ITPRIP	85450	broad.mit.edu	37	10	106075039	106075039	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:106075039G>A	ENST00000278071.2	-	3	1223	c.771C>T	c.(769-771)tgC>tgT	p.C257C	ITPRIP_ENST00000358187.2_Silent_p.C257C|ITPRIP_ENST00000337478.1_Silent_p.C257C	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	257						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGGTCTTGCCGCAGATGCAGC	0.647000													24	51					0	0	0.324025	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841992	27841992	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:27841992G>A	ENST00000318304.8	+	26	2842	c.2559G>A	c.(2557-2559)ttG>ttA	p.L853L	PPFIBP1_ENST00000542629.1_Silent_p.L822L|PPFIBP1_ENST00000537927.1_Silent_p.L700L|PPFIBP1_ENST00000228425.6_Silent_p.L847L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	853	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCAGTTATTGAACATCCCAC	0.418000													10	68					0	0	0.335167	0	0
CACNA1D	776	broad.mit.edu	37	3	53700551	53700551	+	Missense_Mutation	SNP	G	G	A	rs148674323		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:53700551G>A	ENST00000288139.3	+	7	1223	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V369M|CACNA1D_ENST00000350061.5_Missense_Mutation_p.V369M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	369					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGGACAGATGTGCTCTACTG	0.512000													41	64					0	0	0.268233	0	0
STARD3NL	83930	broad.mit.edu	37	7	38259205	38259205	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:38259205T>G	ENST00000009041.7	+	7	850	c.593T>G	c.(592-594)cTt>cGt	p.L198R	STARD3NL_ENST00000434197.1_Missense_Mutation_p.L180R|STARD3NL_ENST00000396013.1_Missense_Mutation_p.L198R|STARD3NL_ENST00000544203.1_Missense_Mutation_p.L191R	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	198	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						AGGGCAGCACTTATACCTGGT	0.418000													8	84					0	0	0.307466	0	0
CDCP2	200008	broad.mit.edu	37	1	54610233	54610233	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:54610233C>G	ENST00000371330.1	-	2	1180	c.333G>C	c.(331-333)ccG>ccC	p.P111P	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	111	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGAAGGGCGGCGGGGGCACCT	0.587000													9	33					0	0	0.361761	0	0
HAT1	8520	broad.mit.edu	37	2	172809472	172809472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:172809472C>T	ENST00000264108.4	+	4	298	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R3C	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	88					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACAATGTTCCGTGTTGAATA	0.313000													10	45					0	0	0.335167	0	0
HSCB	150274	broad.mit.edu	37	22	29139936	29139936	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:29139936C>T	ENST00000216027.3	+	2	368	c.303C>T	c.(301-303)gtC>gtT	p.V101V	HSCB_ENST00000398941.2_Silent_p.V101V|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	101	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGCGTCTTGTCCACCCAGATT	0.483000													14	91					0	0	0.146539	0	0
SCN1A	6323	broad.mit.edu	37	2	166856246	166856246	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:166856246A>G	ENST00000423058.2	-	22	4342	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1414A|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1431A|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1442A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1442						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)	TCTGGAATCAACTGCTGCATA	0.308000													12	84					0	0	0.119110	0	0
PLA2R1	22925	broad.mit.edu	37	2	160801458	160801458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:160801458G>A	ENST00000283243.7	-	28	4309	c.4103C>T	c.(4102-4104)cCg>cTg	p.P1368L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1368	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCTTGACACGGGGATAGCTG	0.428000													12	92					0	0	0.093190	0	0
CDH11	1009	broad.mit.edu	37	16	65032724	65032724	+	Silent	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:65032724A>G	ENST00000394156.3	-	4	717	c.264T>C	c.(262-264)atT>atC	p.I88I	CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000268603.4_Silent_p.I88I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	88	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAATGTATTTAATGTTCCCAT	0.408000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			7	36					0	0	0.278610	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376726	138376726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:138376726G>C	ENST00000356818.2	+	4	919	c.370G>C	c.(370-372)Gac>Cac	p.D124H	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.D124H|PPP1R26_ENST00000605660.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000604351.1_Missense_Mutation_p.D124H	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	124						nucleolus	protein binding										GCTAGATTCAGACAGTGATGA	0.612000													71	49					0	0	0.323286	0	0
GSDMB	55876	broad.mit.edu	37	17	38073560	38073560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:38073560C>T	ENST00000394175.2	-	1	233	c.10G>A	c.(10-12)Gta>Ata	p.V4I	GSDMB_ENST00000394179.1_Missense_Mutation_p.V4I|GSDMB_ENST00000520542.1_Missense_Mutation_p.V4I|GSDMB_ENST00000418519.1_Missense_Mutation_p.V4I|GSDMB_ENST00000309481.7_Missense_Mutation_p.V4I|GSDMB_ENST00000360317.3_Missense_Mutation_p.V4I	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	4						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TCCTCAAATACGCTGAACATT	0.433000													18	47					0	0	0.160694	0	0
KEAP1	9817	broad.mit.edu	37	19	10610149	10610149	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:10610149G>A	ENST00000171111.5	-	2	1108	c.561C>T	c.(559-561)atC>atT	p.I187I	KEAP1_ENST00000393623.2_Silent_p.I187I|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	187	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGAAGTTGGCGATGCCGATGG	0.592000													4	44					0	0	0.150653	0	0
XKR4	114786	broad.mit.edu	37	8	56436657	56436657	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:56436657G>C	ENST00000327381.5	+	3	1924	c.1824G>C	c.(1822-1824)gaG>gaC	p.E608D		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	608						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCATGGGAGAGACATGTTT	0.488000													7	28					0	0	0.248553	0	0
ASXL2	55252	broad.mit.edu	37	2	25978930	25978930	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:25978930G>A	ENST00000435504.4	-	10	1286	c.993C>T	c.(991-993)ttC>ttT	p.F331F	ASXL2_ENST00000336112.4_Silent_p.F303F|ASXL2_ENST00000272341.4_Silent_p.F71F|ASXL2_ENST00000404843.1_Silent_p.F71F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.F71L(1)|p.F331L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGTGAAGAATTCATTGT	0.453000													12	76					0	0	0.093190	0	0
TMEM260	54916	broad.mit.edu	37	14	57101623	57101623	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:57101623T>G	ENST00000261556.6	+	14	1853	c.1731T>G	c.(1729-1731)gaT>gaG	p.D577E	RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.D111E|RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000538838.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		ACAGGTTTGATCCATCTTCTT	0.393000													20	62					0	0	0.219247	0	0
PRKAG2	51422	broad.mit.edu	37	7	151261269	151261269	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:151261269C>T	ENST00000287878.4	-	14	1983	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	PRKAG2_ENST00000492843.1_Silent_p.T369T|PRKAG2_ENST00000418337.2_Silent_p.T252T|PRKAG2_ENST00000392801.2_Silent_p.T449T|PRKAG2_ENST00000433631.2_Silent_p.T368T	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	493					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCTGGGTCACCGTGATATCTA	0.398000													5	91					0	0	0.217242	0	0
GOPC	57120	broad.mit.edu	37	6	117890830	117890830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:117890830C>T	ENST00000535237.1	-	7	1211	c.982G>A	c.(982-984)Gga>Aga	p.G328R	GOPC_ENST00000368498.2_Missense_Mutation_p.G328R|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.G320R|GOPC_ENST00000467125.1_5'UTR					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TGCAGCCCTCCGCATCTATCA	0.458000			O	ROS1	glioblastoma								31	96					0	0	0.163468	0	0
BMP7	655	broad.mit.edu	37	20	55777625	55777625	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:55777625G>A	ENST00000395863.3	-	3	1171	c.666C>T	c.(664-666)ggC>ggT	p.G222G	BMP7_ENST00000395864.3_Silent_p.G222G|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.G222G	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	222					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACACCAGCCAGCCCTCCTCCG	0.627000													9	35					0	0	0.361761	0	0
GSN	2934	broad.mit.edu	37	9	124073041	124073041	+	Missense_Mutation	SNP	G	G	A	rs144099356	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:124073041G>A	ENST00000373823.3	+	12	1336	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	GSN_ENST00000545652.1_Missense_Mutation_p.R152Q|GSN_ENST00000373818.4_Missense_Mutation_p.R195Q|GSN_ENST00000373808.2_Missense_Mutation_p.R144Q|GSN_ENST00000341272.2_Missense_Mutation_p.R144Q|GSN_ENST00000394353.2_Missense_Mutation_p.R155Q|GSN_ENST00000412819.1_Missense_Mutation_p.R144Q|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Missense_Mutation_p.R155Q|GSN_ENST00000449733.1_Missense_Mutation_p.R144Q			P06396	GELS_HUMAN	gelsolin	195	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GTCAAAGGGCGGCGTGTGGTC	0.587000													8	47					0	0	0.278610	0	0
SEMG1	6406	broad.mit.edu	37	20	43836743	43836743	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:43836743C>G	ENST00000372781.3	+	2	862	c.805C>G	c.(805-807)Cag>Gag	p.Q269E	SEMG1_ENST00000244069.6_Missense_Mutation_p.Q269E	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAATCAACACCAGACAAAAAA	0.398000													9	63					0	0	0.307466	0	0
CHD7	55636	broad.mit.edu	37	8	61765187	61765187	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:61765187G>A	ENST00000423902.2	+	30	6504	c.6025G>A	c.(6025-6027)Gag>Aag	p.E2009K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2009					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAATCTGATGAGAGTTTGGA	0.438000													9	22					0	0	0.307466	0	0
TMEM258	746	broad.mit.edu	37	11	61558011	61558011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:61558011C>T	ENST00000543510.1	-	2	1403	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	TMEM258_ENST00000535042.1_5'UTR|TMEM258_ENST00000537328.1_Missense_Mutation_p.V23M					transmembrane protein 258																		AAAAGCACCACGGTCAGATGG	0.527000													8	13					0	0	0.278610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	RNA	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048																											CGCTGCAGCTGACTCTGCAGC	0.677000													3	16					0	0	0.115264	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473671	145473671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:145473671C>G	ENST00000323397.4	+	4	1636	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	115										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCCTCGGCTCTTGTCCACGC	0.701000													8	38					0	0	0.307466	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GACACGCACACGCCGCGGGGA	0.657000													20	58					0	0	0.234183	0	0
AFF2	2334	broad.mit.edu	37	X	147924495	147924495	+	Silent	SNP	G	G	A	rs149177157	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:147924495G>A	ENST00000370460.2	+	6	1658	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	AFF2_ENST00000370457.5_Silent_p.S360S|AFF2_ENST00000286437.5_Silent_p.S34S|AFF2_ENST00000370458.1_Silent_p.S360S|AFF2_ENST00000342251.3_Silent_p.S360S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	393					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATAGGAATCGCAGCATCTGA	0.343000													41	23					0	0	0.279185	0	0
FRAS1	80144	broad.mit.edu	37	4	79460452	79460452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:79460452G>A	ENST00000264895.6	+	73	11743	c.11303G>A	c.(11302-11304)cGc>cAc	p.R3768H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3763					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCTAGGACCGCAATCAGCCA	0.438000													14	72					0	0	0.119110	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:145473612C>T	ENST00000323397.4	+	4	1577	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	95										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721000													9	47					0	0	0.307466	0	0
PRDM9	56979	broad.mit.edu	37	5	23527576	23527576	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:23527576T>A	ENST00000296682.3	+	11	2561	c.2379T>A	c.(2377-2379)agT>agA	p.S793R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	793					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S793R(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACCTCCTCAGTCACCAGAGGA	0.562000										HNSCC(3;0.000094)			5	154					0	0	0.184627	0	0
ZNF592	9640	broad.mit.edu	37	15	85327115	85327115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:85327115G>C	ENST00000299927.3	+	1	1231	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	ZNF592_ENST00000560079.2_Missense_Mutation_p.K403N			Q92610	ZN592_HUMAN	zinc finger protein 592	403					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCCAAGTAAGTCCCCTGTTG	0.532000													6	33					0	0	0.278610	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480162	27480162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27480162C>T	ENST00000233535.4	-	5	989	c.637G>A	c.(637-639)Gag>Aag	p.E213K	SLC30A3_ENST00000447008.2_Missense_Mutation_p.E208K	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	213					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCATACTCTGCTCCCCTA	0.672000													8	17					0	0	0.361761	0	0
IFT57	55081	broad.mit.edu	37	3	107938325	107938325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:107938325C>T	ENST00000264538.3	-	2	554	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	103					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGAGGCTGCTCAAAGGGACGT	0.418000													6	82					0	0	0.248553	0	0
GPR18	2841	broad.mit.edu	37	13	99907960	99907960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:99907960G>A	ENST00000340807.3	-	3	723	c.167C>T	c.(166-168)aCg>aTg	p.T56M	GPR18_ENST00000397470.2_Missense_Mutation_p.T56M|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.T56M			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	56						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GATGGTTACCGTGGTTCTCTT	0.348000													28	56					0	0	0.353513	0	0
ELP4	26610	broad.mit.edu	37	11	31805046	31805046	+	Missense_Mutation	SNP	G	G	A	rs3026403		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:31805046G>A	ENST00000350638.5	+	10	1284	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q|ELP4_ENST00000395934.2_3'UTR	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	417					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)					CATGATGGCCGGAGGCAAGAA	0.498000													3	74					0	0	0.115264	0	0
SETBP1	26040	broad.mit.edu	37	18	42529990	42529990	+	Nonsense_Mutation	SNP	G	G	T	rs143196787		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:42529990G>T	ENST00000282030.5	+	4	981	c.685G>T	c.(685-687)Gga>Tga	p.G229*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	229						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)		CTCTGACAGCGGACCCGTCAC	0.547000									Schinzel-Giedion syndrome				7	44					0.000157383	0.000163566	0.278610	1	0
CAD	790	broad.mit.edu	37	2	27463149	27463149	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27463149G>A	ENST00000264705.4	+	35	5675	c.5513G>A	c.(5512-5514)cGc>cAc	p.R1838H	CAD_ENST00000403525.1_Missense_Mutation_p.R1775H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1838	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GAAAGACCCCGCCGTGGCATC	0.567000													15	112					0	0	0.175082	0	0
CCT6A	908	broad.mit.edu	37	7	56124052	56124052	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:56124052G>C	ENST00000275603.4	+	5	778	c.559G>C	c.(559-561)Gat>Cat	p.D187H	CCT6A_ENST00000335503.3_Missense_Mutation_p.D142H|CCT6A_ENST00000540286.1_Missense_Mutation_p.D156H	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	187					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAACCTATTGATCTCTTCAT	0.393000													10	68					0	0	0.335167	0	0
NEMF	9147	broad.mit.edu	37	14	50262630	50262630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:50262630G>C	ENST00000298310.5	-	26	2947	c.2498C>G	c.(2497-2499)tCa>tGa	p.S833*	NEMF_ENST00000546046.1_Nonsense_Mutation_p.S812*|NEMF_ENST00000545773.1_Nonsense_Mutation_p.S791*|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Nonsense_Mutation_p.S33*			O60524	NEMF_HUMAN	nuclear export mediator factor	833						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TAAATCTCCTGAGTCACTTGG	0.338000													7	45					0	0	0.278610	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769023	140769023	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:140769023C>T	ENST00000519479.1	+	1	1572	c.1572C>T	c.(1570-1572)cgC>cgT	p.R524R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCTGCGCGCCTTCGAAC	0.672000													21	39					0	0	0.219247	0	0
SNED1	25992	broad.mit.edu	37	2	241987826	241987826	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:241987826C>T	ENST00000310397.8	+	9	1368	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SNED1_ENST00000405547.3_Silent_p.P456P|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Silent_p.P456P|SNED1_ENST00000342631.6_Silent_p.P456P|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	456	EGF-like 5.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCGAGTGCCCCGAAGGCTTCA	0.662000													4	9					0	0	0.217242	0	0
IPO5	3843	broad.mit.edu	37	13	98671904	98671904	+	Missense_Mutation	SNP	C	C	T	rs1804741		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:98671904C>T	ENST00000261574.5	+	27	3140	c.2960C>T	c.(2959-2961)aCa>aTa	p.T987I	IPO5_ENST00000539640.1_Missense_Mutation_p.T844I|IPO5_ENST00000490680.1_Missense_Mutation_p.T969I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	969					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTCAATGCTACAGAGAACTGC	0.423000													12	43					0	0	0.093190	0	0
CXXC1	30827	broad.mit.edu	37	18	47811188	47811188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:47811188C>T	ENST00000285106.6	-	8	1648	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CXXC1_ENST00000412036.2_Missense_Mutation_p.E312K|CXXC1_ENST00000589940.1_Missense_Mutation_p.E312K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	312	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AATGGGGACTCTTCTGTGTCG	0.587000													4	18					0	0	0.184627	0	0
KIFC2	90990	broad.mit.edu	37	8	145698053	145698053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:145698053C>T	ENST00000301332.2	+	16	2202	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	609	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGACGCTGCGCGCGGCGTC	0.721000													4	27					0	0	0.184627	0	0
NAV3	89795	broad.mit.edu	37	12	78531084	78531084	+	Silent	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:78531084T>G	ENST00000397909.2	+	19	4742	c.4569T>G	c.(4567-4569)tcT>tcG	p.S1523S	NAV3_ENST00000536525.2_Silent_p.S1523S|NAV3_ENST00000228327.6_Silent_p.S1523S|NAV3_ENST00000266692.7_Silent_p.S1346S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1523	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGCCACTTCTCTGGAGGAAA	0.512000										HNSCC(70;0.22)			8	48					0	0	0.307466	0	0
RPTOR	57521	broad.mit.edu	37	17	78938109	78938109	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:78938109G>A	ENST00000306801.3	+	34	4349	c.3987G>A	c.(3985-3987)tcG>tcA	p.S1329S	RPTOR_ENST00000544334.2_Silent_p.S1171S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1329					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGTGTACTCGGTGGAGAAGC	0.652000													19	36					0	0	0.219247	0	0
ADCYAP1	116	broad.mit.edu	37	18	908272	908272	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:908272C>G	ENST00000579794.1	+	3	527	c.249C>G	c.(247-249)gtC>gtG	p.V83V	ADCYAP1_ENST00000450565.3_Silent_p.V83V	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	83					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TTAGAGATGTCGCCCACGGGA	0.677000													3	20					0	0	0.115264	0	0
NAPSA	9476	broad.mit.edu	37	19	50861932	50861932	+	Missense_Mutation	SNP	A	A	T	rs138846093		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:50861932A>T	ENST00000253719.2	-	9	1349	c.1141T>A	c.(1141-1143)Tat>Aat	p.Y381N	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	381					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACGGCCACATACGTCCCCAAG	0.677000													4	13					0	0	0.150653	0	0
MAP9	79884	broad.mit.edu	37	4	156281422	156281422	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:156281422C>A	ENST00000311277.4	-	7	1211	c.948G>T	c.(946-948)aaG>aaT	p.K316N	AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000594492.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K292N	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	316					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CCGCTTTTGCCTTTTCTTCTT	0.378000													9	50					2.74318e-10	2.95654e-10	0.335167	1	0
B3GNT3	10331	broad.mit.edu	37	19	17922878	17922878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:17922878G>A	ENST00000318683.6	+	3	1213	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D356N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	356					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCTCATGTGGGATGCGCTGAA	0.587000													21	45					0	0	0.219247	0	0
CPNE6	9362	broad.mit.edu	37	14	24546188	24546188	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:24546188G>A	ENST00000397016.2	+	15	1577	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	CPNE6_ENST00000216775.2_Silent_p.P422P|CPNE6_ENST00000537691.1_Silent_p.P477P			O95741	CPNE6_HUMAN	copine VI (neuronal)	422	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGGCTGAGCCGGCCCAGCGGG	0.637000													5	24					0	0	0.184627	0	0
PRAME	23532	broad.mit.edu	37	22	22892745	22892745	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:22892745A>C	ENST00000543184.1	-	4	1218	c.356T>G	c.(355-357)cTt>cGt	p.L119R	PRAME_ENST00000539862.1_Missense_Mutation_p.L103R|PRAME_ENST00000402697.1_Missense_Mutation_p.L119R|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000405655.3_Missense_Mutation_p.L119R|PRAME_ENST00000424204.2_Missense_Mutation_p.L103R|PRAME_ENST00000398743.2_Missense_Mutation_p.L119R|PRAME_ENST00000398741.1_Missense_Mutation_p.L119R	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	119					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGCACTTGAAGTTTCCACCT	0.438000													8	60					0	0	0.361761	0	0
EIF2S2	8894	broad.mit.edu	37	20	32685311	32685311	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:32685311C>A	ENST00000374980.2	-	5	666	c.445G>T	c.(445-447)Gaa>Taa	p.E149*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	149						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TTGTTGTCTTCATCTTCTAGA	0.413000													5	36					0.0215528	0.0218531	0.217242	1	0
MSH2	4436	broad.mit.edu	37	2	47656948	47656948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:47656948C>T	ENST00000406134.1	+	7	1206	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	MSH2_ENST00000233146.2_Missense_Mutation_p.R382C|MSH2_ENST00000543555.1_Missense_Mutation_p.R316C			P43246	MSH2_HUMAN	mutS homolog 2	382					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATTTACTTCGTCGATTCCC	0.343000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	44					0	0	0.080935	0	0
NELFA	7469	broad.mit.edu	37	4	1985365	1985365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:1985365G>A	ENST00000382882.3	-	10	2510	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S	NELFA_ENST00000542778.1_Missense_Mutation_p.P319S|NELFA_ENST00000411638.1_Missense_Mutation_p.P454S	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		GCCTTCTCGGGCCGCGTGACT	0.677000													11	26					0	0	0.105934	0	0
DSCAM	1826	broad.mit.edu	37	21	41416162	41416162	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:41416162C>T	ENST00000400454.1	-	31	5703	c.5226G>A	c.(5224-5226)gcG>gcA	p.A1742A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1742					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.A1742A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCGGTTTCTCGCTGTGGGCC	0.602000													8	24					0	0	0.278610	0	0
RAB34	83871	broad.mit.edu	37	17	27045165	27045165	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:27045165G>C	ENST00000447716.1	-	1	121	c.121C>G	c.(121-123)Cga>Gga	p.R41G	RAB34_ENST00000301043.6_5'UTR|RAB34_ENST00000415040.2_5'UTR|RAB34_ENST00000453384.3_Missense_Mutation_p.R41G|RAB34_ENST00000436730.3_5'UTR|RAB34_ENST00000450529.1_5'UTR	NM_001142624.2|NM_001144943.1	NP_001136096.2|NP_001138415.1	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					ATGGGGAATCGGAGACTGCTG	0.632000													5	12					0	0	0.184627	0	0
COG5	10466	broad.mit.edu	37	7	107053006	107053006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:107053006C>T	ENST00000393603.2	-	7	974	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	COG5_ENST00000297135.3_Missense_Mutation_p.A235T|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.A235T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	235					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAAGTCGGGCTCTTGCAATA	0.328000													18	51					0	0	0.175082	0	0
RFPL2	10739	broad.mit.edu	37	22	32586995	32586995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:32586995G>A	ENST00000400236.3	-	5	1836	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.R240C|RFPL2_ENST00000400237.1_Missense_Mutation_p.R301C|RFPL2_ENST00000248983.4_Missense_Mutation_p.R211C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	301	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTAACTTGCGGTCTACGAAG	0.517000													12	38					0	0	0.119110	0	0
EYA4	2070	broad.mit.edu	37	6	133783571	133783571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:133783571C>A	ENST00000367895.5	+	8	1000	c.536C>A	c.(535-537)aCa>aAa	p.T179K	EYA4_ENST00000355167.3_Missense_Mutation_p.T179K|EYA4_ENST00000452339.2_Missense_Mutation_p.T125K|EYA4_ENST00000431403.2_Missense_Mutation_p.T179K|EYA4_ENST00000430974.2_Missense_Mutation_p.T125K|EYA4_ENST00000531901.1_Missense_Mutation_p.T179K|EYA4_ENST00000355286.6_Missense_Mutation_p.T156K|EYA4_ENST00000525849.1_Missense_Mutation_p.T156K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	179					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCCGTCTACACAGCCTACTCA	0.507000													9	55					0.000274275	0.000283029	0.307466	1	0
C5orf42	65250	broad.mit.edu	37	5	37108457	37108457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:37108457G>A	ENST00000274258.7	-	51	9636	c.6049C>T	c.(6049-6051)Ccc>Tcc	p.P2017S	C5orf42_ENST00000425232.2_Missense_Mutation_p.P3119S|C5orf42_ENST00000508244.1_Missense_Mutation_p.P3119S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3119										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATCGTCCAGGGACTCACCACA	0.423000													6	91					0	0	0.248553	0	0
SNORD113-7	767567	broad.mit.edu	37	14	101407483	101407483	+	RNA	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:101407483G>A	ENST00000363762.1	+	0	21					NR_003235.1																						ATGAGTATGCGTGGGGCATCT	0.363000													18	48					0	0	0.204396	0	0
CENPA	1058	broad.mit.edu	37	2	27015013	27015013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27015013C>T	ENST00000335756.4	+	2	315	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Nonsense_Mutation_p.Q39*	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	39					CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCCCATCAACACAGTCG	0.512000													7	16					0	0	0.278610	0	0
MUC1	4582	broad.mit.edu	37	1	155160217	155160217	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:155160217C>T	ENST00000368395.1	-	5	1133	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	MUC1_ENST00000438413.1_Silent_p.L108L|MUC1_ENST00000337604.5_Silent_p.L152L|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Silent_p.L134L|MUC1_ENST00000338684.5_Silent_p.L103L|MUC1_ENST00000368393.3_Silent_p.L152L|MUC1_ENST00000368392.3_Silent_p.L143L|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368398.3_Silent_p.L109L|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Silent_p.L143L	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1134	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGAGATCGTCAGGTTATATC	0.552000			T	IGH@	B-NHL								7	23					0	0	0.248553	0	0
INTU	27152	broad.mit.edu	37	4	128628077	128628077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:128628077G>A	ENST00000335251.5	+	12	2327	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	742										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GAAGCAAAGAGAATCTCAGGG	0.473000													22	119					0	0	0.264190	0	0
MARCH6	10299	broad.mit.edu	37	5	10407240	10407240	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:10407240G>A	ENST00000274140.5	+	17	1611	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	MARCH6_ENST00000449913.2_Silent_p.L445L|MARCH6_ENST00000503788.1_Silent_p.L388L|MARCH6_ENST00000510792.1_Silent_p.L191L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	493					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGTCCTCCTGATGCTTTGGC	0.408000													26	293					0	0	0.338820	0	0
ZNF76	7629	broad.mit.edu	37	6	35260716	35260716	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:35260716G>A	ENST00000373953.3	+	11	1490	c.1224G>A	c.(1222-1224)tcG>tcA	p.S408S	ZNF76_ENST00000339411.5_Silent_p.S408S|ZNF76_ENST00000440666.2_Silent_p.S382S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	408					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTACCTTTCGGAGGTGAAGG	0.612000													55	55					0	0	0.323286	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857399	68857399	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:68857399A>C	ENST00000361320.4	+	3	2169	c.1591A>C	c.(1591-1593)Agt>Cgt	p.S531R	CTNNA3_ENST00000494580.1_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	531						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCCACAATAAGTTACTGTGG	0.418000													9	87					0	0	0.093190	0	0
ENTPD7	57089	broad.mit.edu	37	10	101439180	101439180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:101439180G>A	ENST00000370489.4	+	4	532	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	118						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCAAACAGATGAGAGACCGCA	0.428000													4	28					0	0	0.150653	0	0
AK5	26289	broad.mit.edu	37	1	77806120	77806120	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:77806120G>C	ENST00000344720.5	+	6	1706	c.680G>C	c.(679-681)aGa>aCa	p.R227T	AK5_ENST00000354567.2_Missense_Mutation_p.R253T	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	253					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTCAAAGAAAGATTACTGAAG	0.458000													11	80					0	0	0.361761	0	0
NRDE2	55051	broad.mit.edu	37	14	90759044	90759044	+	Silent	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:90759044T>C	ENST00000354366.3	-	9	2071	c.1839A>G	c.(1837-1839)agA>agG	p.R613R	NRDE2_ENST00000357904.3_Silent_p.R382R	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TACATGCCTGTCTCTCGGGAT	0.612000													19	98					0	0	0.234183	0	0
WNT16	51384	broad.mit.edu	37	7	120979112	120979112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:120979112G>C	ENST00000222462.2	+	4	1101	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	WNT16_ENST00000361301.2_Missense_Mutation_p.E261Q	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	271					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCGCAGGAGAGAAAAAGATCA	0.368000													6	24					0	0	0.217242	0	0
SYNM	23336	broad.mit.edu	37	15	99672905	99672905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:99672905C>T	ENST00000336292.6	+	5	4457	c.4337C>T	c.(4336-4338)aCg>aTg	p.T1446M	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1447	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCAGCAGAACGCTAAGGCAC	0.542000													33	114					0	0	0.193644	0	0
EVC2	132884	broad.mit.edu	37	4	5624705	5624705	+	Missense_Mutation	SNP	C	C	T	rs144420242	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5624705C>T	ENST00000310917.2	-	14	2551	c.1820G>A	c.(1819-1821)cGt>cAt	p.R607H	EVC2_ENST00000344938.1_Missense_Mutation_p.R687H|EVC2_ENST00000344408.5_Missense_Mutation_p.R687H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	687						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCTCCCTACGCTGCTCCCT	0.592000													10	29					0	0	0.080935	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119159	9119159	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:9119159T>C	ENST00000382496.5	-	15	2541	c.1876A>G	c.(1876-1878)Act>Gct	p.T626A		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	626	TSP type-1 2.				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						TGCCTGGGAGTGGGGTTGCTG	0.667000													9	38					0	0	0.335167	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073640	73073640	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:73073640G>T	ENST00000263674.3	+	14	5207	c.4857G>T	c.(4855-4857)atG>atT	p.M1619I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1619					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTTGGAGATGACGCCGGGCC	0.692000													4	38					0.0215528	0.0218531	0.217242	1	0
SBF1	6305	broad.mit.edu	37	22	50898068	50898068	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:50898068C>G	ENST00000380817.2	-	27	3702	c.3519G>C	c.(3517-3519)caG>caC	p.Q1173H	SBF1_ENST00000390679.3_Missense_Mutation_p.Q1173H|SBF1_ENST00000348911.6_Missense_Mutation_p.Q1174H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1173	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGGACACTCTGGGGCACGA	0.701000													3	33					0	0	0.115264	0	0
PHF2	5253	broad.mit.edu	37	9	96435940	96435940	+	Missense_Mutation	SNP	G	G	A	rs145764244	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:96435940G>A	ENST00000359246.4	+	18	2789	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	808					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCAGGCCTCCGACTCCTGCCT	0.667000													8	55					0	0	0.080935	0	0
CHD4	1108	broad.mit.edu	37	12	6690555	6690555	+	Splice_Site	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6690555C>G	ENST00000309577.6	-	31	4929		c.e31-1		CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCCCATCTTCTGCAGAACAA	0.403000													5	67					0	0	0.307466	0	0
SDK1	221935	broad.mit.edu	37	7	4272924	4272924	+	Silent	SNP	G	G	A	rs144472783		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:4272924G>A	ENST00000404826.2	+	41	6004	c.5865G>A	c.(5863-5865)ccG>ccA	p.P1955P	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.P1935P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1955	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGACATCCCGCGGAGCGCCA	0.597000													10	50					0	0	0.335167	0	0
PCDH17	27253	broad.mit.edu	37	13	58208055	58208055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:58208055G>T	ENST00000377918.3	+	1	1401	c.1375G>T	c.(1375-1377)Gcg>Tcg	p.A459S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	459	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAAGTCGTTCGCGATCAAGAT	0.607000													3	19					2.56e-06	2.68939e-06	0.150653	1	0
GRID2	2895	broad.mit.edu	37	4	94377124	94377124	+	Splice_Site	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:94377124A>C	ENST00000282020.4	+	11	2115	c.1858_splice	c.e11+1	p.Q619_splice	GRID2_ENST00000510992.1_Splice_Site_p.Q524_splice	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	619					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGTACAACAAGGTAAGGAGC	0.353000													11	50					0	0	0.361761	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85554449	85554449	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:85554449A>C	ENST00000393217.2	+	24	4840	c.4779A>C	c.(4777-4779)aaA>aaC	p.K1593N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1593										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTCTTCCAAAATCACCAAAGA	0.343000													5	58					0	0	0.184627	0	0
C19orf47	126526	broad.mit.edu	37	19	40842076	40842076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:40842076C>T	ENST00000582783.1	-	4	286	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	C19orf47_ENST00000392035.2_Missense_Mutation_p.V25M	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	92										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			ACCACGGTCACGCCCAGCTCA	0.572000													6	41					0	0	0.217242	0	0
CXXC1	30827	broad.mit.edu	37	18	47811201	47811201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:47811201C>T	ENST00000285106.6	-	8	1635	c.921G>A	c.(919-921)atG>atA	p.M307I	CXXC1_ENST00000412036.2_Missense_Mutation_p.M307I|CXXC1_ENST00000589940.1_Missense_Mutation_p.M307I	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	307	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGTGTCGCTCATCCAGGGCT	0.587000													5	17					0	0	0.184627	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260722	42260722	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:42260722C>T	ENST00000199764.6	+	2	497	c.279C>T	c.(277-279)ccC>ccT	p.P93P	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	93	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGGGCCCGCATACAGTG	0.458000													72	103					0	0	0.323286	0	0
MED12L	116931	broad.mit.edu	37	3	151129190	151129190	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:151129190C>G	ENST00000474524.1	+	39	5968	c.5930C>G	c.(5929-5931)tCc>tGc	p.S1977C	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1977	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCGCACATTCCAACCCCGTG	0.582000													13	139					0	0	0.093190	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903736	20903736	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:20903736C>G	ENST00000381552.1	+	14	2294	c.1926C>G	c.(1924-1926)atC>atG	p.I642M	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I642M|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I524M|SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000540354.1_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	0					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGTACCAAATCAAAAGCATTC	0.378000													6	43					0	0	0.307466	0	0
LRP5	4041	broad.mit.edu	37	11	68131338	68131338	+	Silent	SNP	G	G	A	rs80358307		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:68131338G>A	ENST00000294304.7	+	4	916	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	270	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGGGAAGAGGAAGGAGA	0.652000													7	63					0	0	0.248553	0	0
UBE3B	89910	broad.mit.edu	37	12	109972546	109972546	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:109972546C>T	ENST00000342494.3	+	28	3761	c.3166C>T	c.(3166-3168)Cgc>Tgc	p.R1056C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R1056C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1056	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGAGAAGCTGCGCTACGCCAT	0.642000													9	51					0	0	0.335167	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825688	64825688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64825688G>A	ENST00000358658.3	-	2	247	c.220C>T	c.(220-222)Cct>Tct	p.P74S	NAALADL1_ENST00000355369.2_Missense_Mutation_p.P74S|NAALADL1_ENST00000339885.2_Missense_Mutation_p.P74S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P74S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P74S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P74S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	74					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCATCCCGAGGGCTGGAGGCC	0.677000													5	40					0	0	0.248553	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798369	55798369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:55798369C>T	ENST00000313555.1	+	1	475	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATCACTGGTCCATGTGTGCCT	0.438000													66	107					0	0	0.323286	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300018	112300018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:112300018G>C	ENST00000492406.1	+	6	1337	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	352						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTGGTCTTTGACTTCAGGCC	0.453000													12	86					0	0	0.105934	0	0
SH2B1	25970	broad.mit.edu	37	16	28883644	28883644	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:28883644C>T	ENST00000337120.5	+	6	4938	c.1647C>T	c.(1645-1647)caC>caT	p.H549H	SH2B1_ENST00000322610.8_Silent_p.H549H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Silent_p.H239H|SH2B1_ENST00000538342.1_Silent_p.H213H|SH2B1_ENST00000395532.4_Silent_p.H549H|SH2B1_ENST00000359285.5_Silent_p.H549H	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	549	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGGCTCCCACGGTGTCTTCC	0.622000													10	37					0	0	0.335167	0	0
EIF4A3	9775	broad.mit.edu	37	17	78120703	78120703	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:78120703C>G	ENST00000269349.3	-	1	279	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	20					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATGTCTTCCTCTTTGAGCAGC	0.647000													5	38					0	0	0.217242	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530153	80530153	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:80530153C>G	ENST00000295057.3	-	2	1448	c.792G>C	c.(790-792)tcG>tcC	p.S264S	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S264S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	264						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCTCGTTGCCCGACAAGTCCA	0.607000										HNSCC(69;0.2)			8	44					0	0	0.307466	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	33					0	0	0.217242	0	0
COPB1	1315	broad.mit.edu	37	11	14490304	14490304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:14490304G>A	ENST00000249923.3	-	16	2368	c.2068C>T	c.(2068-2070)Cag>Tag	p.Q690*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.Q690*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	690					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAACTCAGCTGAAACTGATCT	0.423000													18	149					0	0	0.189662	0	0
CPNE5	57699	broad.mit.edu	37	6	36714277	36714277	+	Missense_Mutation	SNP	C	C	T	rs150078502	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:36714277C>T	ENST00000244751.2	-	16	1720	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.V74I	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	366	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ATCTCTCCGACGGCAGTCAGC	0.622000													4	59					0	0	0.150653	0	0
PSMD1	5707	broad.mit.edu	37	2	231947609	231947609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:231947609G>A	ENST00000308696.6	+	13	1588	c.1426G>A	c.(1426-1428)Ggt>Agt	p.G476S	PSMD1_ENST00000409643.1_Missense_Mutation_p.G476S|PSMD1_ENST00000373635.4_Missense_Mutation_p.G476S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	476					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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CGTTAGACACGGTGGCAGTCT	0.373000													4	28					0	0	0.150653	0	0
TARDBP	23435	broad.mit.edu	37	1	11080498	11080498	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:11080498G>C	ENST00000240185.3	+	5	670	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	TARDBP_ENST00000439080.2_Missense_Mutation_p.E70Q|TARDBP_ENST00000315091.3_Missense_Mutation_p.E186Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	186	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E186K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCCAAGATGAGCCTTTGAG	0.398000													11	74					0	0	0.361761	0	0
GK2	2712	broad.mit.edu	37	4	80327860	80327860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:80327860G>A	ENST00000358842.3	-	1	1512	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	499				R -> C (in Ref. 2; BAF84930).	glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTGGCATAACGAATTTCACTT	0.478000													12	77					0	0	0.132662	0	0
TNFSF14	8740	broad.mit.edu	37	19	6670018	6670018	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:6670018G>A	ENST00000326176.9	-	2	444	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TNFSF14_ENST00000245912.3_Silent_p.F21F|TNFSF14_ENST00000599359.1_Silent_p.F21F	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	21					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGCCTCGTGAATGGGATGT	0.642000													19	80					0	0	0.204396	0	0
ECT2	1894	broad.mit.edu	37	3	172474799	172474799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:172474799G>A	ENST00000417960.1	+	5	711	c.234G>A	c.(232-234)atG>atA	p.M78I	ECT2_ENST00000392692.3_Missense_Mutation_p.M110I|ECT2_ENST00000441497.2_Missense_Mutation_p.M79I|ECT2_ENST00000540509.1_Missense_Mutation_p.M110I|ECT2_ENST00000427830.1_Missense_Mutation_p.M79I|ECT2_ENST00000232458.5_Missense_Mutation_p.M79I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	79					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGTAAAGATGGAGTCAGTGG	0.333000													74	107					0	0	0.323286	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476268	87476268	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:87476268G>A	ENST00000341119.5	-	8	973	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	209					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCTACCTGAGAAAGGTACAT	0.378000													11	56					0	0	0.361761	0	0
SHROOM2	357	broad.mit.edu	37	X	9863269	9863269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:9863269G>A	ENST00000380913.3	+	4	1411	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	441					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTCTGTGCTGACAGCCTTGG	0.652000													18	16					0	0	0.204396	0	0
SCLY	51540	broad.mit.edu	37	2	239003069	239003069	+	Silent	SNP	C	C	T	rs149428035		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:239003069C>T	ENST00000254663.6	+	10	1180	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SCLY_ENST00000555827.1_Silent_p.F338F|SCLY_ENST00000429612.2_Silent_p.F132F|SCLY_ENST00000422984.2_Silent_p.F244F	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	338					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		AGGCTGAATTCGGTCAGAAGA	0.448000													5	93					0	0	0.184627	0	0
FOXL1	2300	broad.mit.edu	37	16	86612542	86612542	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:86612542G>A	ENST00000320241.3	+	1	428	c.213G>A	c.(211-213)acG>acA	p.T71T		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	71					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						AGAGGGTCACGCTCAACGGCA	0.642000													27	72					0	0	0.324025	0	0
CHD4	1108	broad.mit.edu	37	12	6688057	6688057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6688057C>T	ENST00000309577.6	-	33	5183	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K	CHD4_ENST00000357008.2_Missense_Mutation_p.E1646K|CHD4_ENST00000544484.1_Missense_Mutation_p.E1671K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1639K|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1646	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCTGACTTTTCCTCCACCTTC	0.413000													6	24					0	0	0.217242	0	0
MUC4	4585	broad.mit.edu	37	3	195481222	195481222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:195481222C>T	ENST00000463781.3	-	19	15649	c.15190G>A	c.(15190-15192)Ggg>Agg	p.G5064R	MUC4_ENST00000346145.4_Missense_Mutation_p.G828R|MUC4_ENST00000475231.1_Missense_Mutation_p.G5012R|MUC4_ENST00000349607.4_Missense_Mutation_p.G777R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1821					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGGTGCCCCCGTCACACTTG	0.652000													25	44					0	0	0.294199	0	0
CCL2	6347	broad.mit.edu	37	17	32583342	32583342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:32583342C>A	ENST00000225831.4	+	2	243	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	CCL2_ENST00000580907.1_Missense_Mutation_p.P60T	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	60					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	CAGCAAGTGTCCCAAAGAAGC	0.493000													14	30					1.3612e-06	1.43518e-06	0.132662	1	0
MYEOV2	150678	broad.mit.edu	37	2	241066179	241066179	+	Missense_Mutation	SNP	C	C	T	rs140948790		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:241066179C>T	ENST00000307266.3	-	5	559	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTGGTTCTTCCGTAAACTGTT	0.483000													17	117					0	0	0.160694	0	0
RPLP0	6175	broad.mit.edu	37	12	120636693	120636693	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:120636693G>A	ENST00000551150.1	-	4	744	c.429C>T	c.(427-429)atC>atT	p.I143I	RPLP0_ENST00000313104.5_Silent_p.I143I|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000546989.1_Silent_p.I143I|RPLP0_ENST00000392514.4_Silent_p.I143I|RPLP0_ENST00000228306.4_Silent_p.I143I			P05388	RLA0_HUMAN	ribosomal protein, large, P0	143					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTAGTGGTGATACCTAAAG	0.552000													5	32					0	0	0.184627	0	0
ZNF667	63934	broad.mit.edu	37	19	56953259	56953259	+	Silent	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:56953259G>T	ENST00000504904.3	-	7	1824	c.1105C>A	c.(1105-1107)Cgg>Agg	p.R369R	ZNF667_ENST00000292069.6_Silent_p.R369R|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.R497R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTGAAAGCCGCCTGAAGAAC	0.378000													24	24					7.92952e-12	8.64229e-12	0.294199	1	0
FAM27L	284123	broad.mit.edu	37	17	21825525	21825525	+	RNA	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:21825525G>A	ENST00000426869.3	+	0	229					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ggcagagtccggggaagcagc	0.637000													12	40					0	0	0.175082	0	0
C6orf165	154313	broad.mit.edu	37	6	88126412	88126412	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:88126412G>A	ENST00000507897.1	+	6	581	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C6ORF165_ENST00000369562.4_Silent_p.Q166Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	166										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTTTTCCTCAGGCAGAGCTTG	0.338000													25	12					0	0	0.294199	0	0
STRN	6801	broad.mit.edu	37	2	37078179	37078179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:37078179C>T	ENST00000263918.4	-	16	2058	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	STRN_ENST00000379213.2_Missense_Mutation_p.E635K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	684					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGCCTGTCTTCATGAGCAGTG	0.328000													14	64					0	0	0.160694	0	0
CNGB1	1258	broad.mit.edu	37	16	58001097	58001097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:58001097C>G	ENST00000564448.1	-	2	154	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.E32Q|CNGB1_ENST00000251102.8_Missense_Mutation_p.E32Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	32	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCCATCTCTGGCTCTGGT	0.637000													10	45					0	0	0.361761	0	0
CTTN	2017	broad.mit.edu	37	11	70281261	70281261	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:70281261G>A	ENST00000301843.8	+	18	1852	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	CTTN_ENST00000538675.1_Intron|CTTN_ENST00000376561.3_Intron|CTTN_ENST00000346329.3_Missense_Mutation_p.R512Q	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	549	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GTGGAGCTGCGGCAGTAGGGC	0.597000													11	36					0	0	0.093190	0	0
BRS3	680	broad.mit.edu	37	X	135572633	135572633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:135572633C>T	ENST00000370648.3	+	2	1004	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	259					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CAAAGCCATGCCCGTAAGCAG	0.388000													3	42					0	0	0.115264	0	0
FCN2	2220	broad.mit.edu	37	9	137779204	137779204	+	Silent	SNP	G	G	A	rs150154280	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:137779204G>A	ENST00000350339.2	+	7	785	c.771G>A	c.(769-771)tcG>tcA	p.S257S	FCN2_ENST00000291744.6_Silent_p.S295S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	295	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACTGGAAGTCGGGGAAAGGAT	0.537000													45	16					0	0	0.290176	0	0
KRT79	338785	broad.mit.edu	37	12	53227934	53227934	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:53227934C>T	ENST00000330553.5	-	1	145	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	37	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAGACACCGTCACTGAGC	0.637000													5	53					0	0	0.361761	0	0
TRPM1	4308	broad.mit.edu	37	15	31295039	31295039	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:31295039G>A	ENST00000542188.1	-	27	4228	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S	TRPM1_ENST00000397795.2_Silent_p.S1266S|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Silent_p.S1288S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1266			R -> H (in dbSNP:rs13380059).		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGCCATCAGCGCTATTGATGC	0.488000													13	56					0	0	0.105934	0	0
PZP	5858	broad.mit.edu	37	12	9349219	9349219	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:9349219C>T	ENST00000261336.2	-	9	958	c.930G>A	c.(928-930)acG>acA	p.T310T	PZP_ENST00000381997.2_Silent_p.T179T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCAAAGCCCGTATTTGTAA	0.393000													13	70					0	0	0.146539	0	0
LRRC40	55631	broad.mit.edu	37	1	70618219	70618219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:70618219C>G	ENST00000370952.3	-	12	1415	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCCTTCAGTTCTACCATCCTG	0.323000													7	35					0	0	0.278610	0	0
KYNU	8942	broad.mit.edu	37	2	143798151	143798151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:143798151G>A	ENST00000264170.4	+	13	1454	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	KYNU_ENST00000409512.1_Missense_Mutation_p.R399Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	399					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GTAGAGGAGCGGGGGTGCCAG	0.408000													9	48					0	0	0.361761	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757747	3757747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:3757747C>T	ENST00000440314.2	-	11	1552	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.R360H|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R360H	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	360					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGCCTTCTCACGCTGTAGACT	0.622000													5	36					0	0	0.278610	0	0
ISM2	145501	broad.mit.edu	37	14	77942421	77942421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:77942421C>G	ENST00000393684.3	-	8	1360	c.969G>C	c.(967-969)aaG>aaC	p.K323N	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Missense_Mutation_p.K330N|ISM2_ENST00000412904.1_Missense_Mutation_p.K330N|ISM2_ENST00000342219.4_Missense_Mutation_p.K411N			Q6H9L7	ISM2_HUMAN	isthmin 2	411						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGAAGTCGCTCTTGCAGTTCA	0.612000													9	46					0	0	0.335167	0	0
NID1	4811	broad.mit.edu	37	1	236189239	236189239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:236189239C>A	ENST00000264187.6	-	8	2023	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	NID1_ENST00000366595.3_Missense_Mutation_p.K647N	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	647	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGCGCAAGATCTTCTCCTCCT	0.577000													39	174					5.59293e-11	6.07292e-11	0.246493	1	0
CCDC68	80323	broad.mit.edu	37	18	52571634	52571634	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:52571634G>A	ENST00000591504.1	-	12	1237	c.963C>T	c.(961-963)acC>acT	p.T321T	CCDC68_ENST00000337363.4_Silent_p.T321T|CCDC68_ENST00000432185.1_Silent_p.T321T	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	321										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AAACACCTTCGGTCTTCAATT	0.368000													7	23					0	0	0.248553	0	0
LRP2	4036	broad.mit.edu	37	2	170101321	170101321	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:170101321G>A	ENST00000263816.3	-	22	3597	c.3312C>T	c.(3310-3312)caC>caT	p.H1104H	LRP2_ENST00000443831.1_Silent_p.H967H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1104					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGCAGGTGCGTGGGTGGGGC	0.537000													16	97					0	0	0.146539	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42861456	42861456	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:42861456G>A	ENST00000398585.3	-	4	474	c.414C>T	c.(412-414)gcC>gcT	p.A138A	TMPRSS2_ENST00000332149.5_Silent_p.A101A|TMPRSS2_ENST00000458356.1_Silent_p.A101A|TMPRSS2_ENST00000497881.1_Intron	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	101	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTAGGCCAGCGGCCAGCGCAG	0.592000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								14	30					0	0	0.146539	0	0
TTN	7273	broad.mit.edu	37	2	179403830	179403830	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:179403830C>G	ENST00000589042.1	-	353	99056	c.98832G>C	c.(98830-98832)tgG>tgC	p.W32944C	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W31303C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30376C|TTN_ENST00000460472.2_Missense_Mutation_p.W23879C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24071C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24004C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31303							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)			TGTGTCTGACCCACTTGTCAG	0.498000													9	57					0	0	0.335167	0	0
MED12L	116931	broad.mit.edu	37	3	150908657	150908657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:150908657G>A	ENST00000474524.1	+	13	1945	c.1907G>A	c.(1906-1908)cGg>cAg	p.R636Q	MED12L_ENST00000309237.4_Missense_Mutation_p.R636Q|MED12L_ENST00000422248.2_Missense_Mutation_p.R636Q|MED12L_ENST00000273432.4_Missense_Mutation_p.R496Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	636					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTCGGCCGCGGTCACCAGTA	0.502000													7	62					0	0	0.335167	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232347	12232347	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:12232347C>G	ENST00000266434.4	+	2	303	c.108C>G	c.(106-108)ttC>ttG	p.F36L	BCL2L14_ENST00000589718.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000308721.5_Missense_Mutation_p.F36L|BCL2L14_ENST00000396369.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000396367.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000586576.1_Missense_Mutation_p.F69L	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	36					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ATCATGTCTTCAAGAGCACCC	0.493000													13	38					0	0	0.093190	0	0
ZNF292	23036	broad.mit.edu	37	6	87966228	87966228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:87966228G>A	ENST00000369577.3	+	8	2924	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	ZNF292_ENST00000339907.4_Missense_Mutation_p.G956S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	961					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTGTGGAAGGCAGTGGTGA	0.428000													18	47					0	0	0.175082	0	0
MED16	10025	broad.mit.edu	37	19	875395	875395	+	Silent	SNP	C	C	T	rs61755331	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:875395C>T	ENST00000312090.6	-	10	1770	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	MED16_ENST00000395808.3_Silent_p.T540T|MED16_ENST00000269814.4_Silent_p.T540T|MED16_ENST00000325464.1_Silent_p.T540T|MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Silent_p.T540T			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	540					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGGTCACCGTGCAGGGCG	0.647000													8	31					0	0	0.335167	0	0
SYCE2	256126	broad.mit.edu	37	19	13029104	13029104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:13029104C>A	ENST00000293695.7	-	2	81	c.63G>T	c.(61-63)ttG>ttT	p.L21F		NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	21					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGCTCTCCCCCAAGGGCTGCG	0.602000													13	41					1.05317e-09	1.12674e-09	0.119110	1	0
INTU	27152	broad.mit.edu	37	4	128627931	128627931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:128627931G>A	ENST00000335251.5	+	12	2181	c.2078G>A	c.(2077-2079)aGa>aAa	p.R693K		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	693										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CCAACATGCAGAAGAACGCTT	0.438000													18	85					0	0	0.175082	0	0
DNAH7	56171	broad.mit.edu	37	2	196891589	196891589	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:196891589C>G	ENST00000312428.6	-	7	662	c.562G>C	c.(562-564)Gta>Cta	p.V188L	DNAH7_ENST00000410072.1_Missense_Mutation_p.V188L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	188	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCCAGTACGTGTTCTAGC	0.353000													3	42					0	0	0.115264	0	0
TARS	6897	broad.mit.edu	37	5	33448677	33448677	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:33448677C>T	ENST00000265112.3	+	3	480	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TARS_ENST00000502553.1_Missense_Mutation_p.R57C|TARS_ENST00000455217.2_Missense_Mutation_p.R57C|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	57					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TATTTACACACGTCTTGAGAT	0.343000													8	85					0	0	0.335167	0	0
MSLN	10232	broad.mit.edu	37	16	818647	818647	+	Splice_Site	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:818647G>T	ENST00000566549.1	+	17	2200		c.e17-1		MSLN_ENST00000382862.3_Splice_Site|MSLN_ENST00000563941.1_Splice_Site|MSLN_ENST00000545450.2_Splice_Site			Q13421	MSLN_HUMAN	mesothelin						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCTCTCTGTAGAGGCCCTCTC	0.697000													12	52					4.3838e-07	4.63886e-07	0.105934	1	0
WFDC1	58189	broad.mit.edu	37	16	84353096	84353096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:84353096G>A	ENST00000219454.5	+	4	807	c.481G>A	c.(481-483)Gag>Aag	p.E161K	WFDC1_ENST00000568638.1_Missense_Mutation_p.E161K			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	161					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCGGGCTATGAGTGCCACAT	0.667000													13	36					0	0	0.119110	0	0
ZNF232	7775	broad.mit.edu	37	17	5009153	5009153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:5009153C>T	ENST00000250076.3	-	5	1955	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	ZNF232_ENST00000575898.1_Missense_Mutation_p.R425Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	407					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATGAACTCTCCGATGTCTAAT	0.433000													16	67					0	0	0.189662	0	0
INTS4	92105	broad.mit.edu	37	11	77590009	77590009	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:77590009G>C	ENST00000534064.1	-	23	2912	c.2878C>G	c.(2878-2880)Cct>Gct	p.P960A	AAMDC_ENST00000527134.1_Intron|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.P335A	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	960					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCCGTGCAGGTTTGGGCATT	0.527000													8	76					0	0	0.307466	0	0
AMZ1	155185	broad.mit.edu	37	7	2752042	2752042	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:2752042A>C	ENST00000312371.4	+	7	1395	c.1027A>C	c.(1027-1029)Acc>Ccc	p.T343P	AMZ1_ENST00000407112.1_Missense_Mutation_p.H286P|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	343							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTGGGAGGACACCCCGCCTGC	0.672000													3	8					0	0	0.248553	0	0
NFATC3	4775	broad.mit.edu	37	16	68200760	68200760	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:68200760G>C	ENST00000349223.5	+	5	1840	c.1616G>C	c.(1615-1617)gGt>gCt	p.G539A	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.G539A|NFATC3_ENST00000329524.4_Missense_Mutation_p.G539A|NFATC3_ENST00000575270.1_Missense_Mutation_p.G539A	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	539	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GATTGTGCAGGTATTTTGAAA	0.299000													7	19					0	0	0.278610	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44303969	44303969	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:44303969G>A	ENST00000262915.3	+	6	672	c.495G>A	c.(493-495)acG>acA	p.T165T	ST3GAL3_ENST00000372377.4_Silent_p.T96T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000347631.2_Silent_p.T111T|ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000372362.2_Silent_p.T96T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000361392.4_Silent_p.T96T|ST3GAL3_ENST00000545417.1_Silent_p.T111T|ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000372369.1_Silent_p.T96T|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372375.2_Silent_p.T150T	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	96					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542000													28	170					0	0	0.353513	0	0
NACAP1	83955	broad.mit.edu	37	8	102381483	102381483	+	RNA	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:102381483C>T	ENST00000419462.1	+	0	895					NR_002182.1																						GAGCCCGCTTCGGATACCTAC	0.438000													16	84					0	0	0.146539	0	0
RABL3	285282	broad.mit.edu	37	3	120424914	120424914	+	Missense_Mutation	SNP	A	A	C	rs151038439		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:120424914A>C	ENST00000273375.3	-	4	345	c.316T>G	c.(316-318)Ttg>Gtg	p.L106V	RABL3_ENST00000483733.1_Missense_Mutation_p.L106V|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	106	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CAACGACGCAAGTTTTGGGAG	0.383000													10	39					0	0	0.361761	0	0
SRRM1	10250	broad.mit.edu	37	1	24978971	24978971	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:24978971G>C	ENST00000323848.9	+	7	1087	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	SRRM1_ENST00000537199.1_Missense_Mutation_p.E127Q|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.E258Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.E258Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	258	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGAGCCTAAAGAACCTTCTCC	0.443000													3	25					0	0	0.115264	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499521	34499521	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:34499521C>T	ENST00000538621.1	+	9	1427	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	PACSIN1_ENST00000244458.2_Silent_p.Y394Y|PACSIN1_ENST00000374043.2_Silent_p.Y352Y	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	394	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGGCACTCTACGACTATGACG	0.647000													30	135					0	0	0.353513	0	0
SFTPC	6440	broad.mit.edu	37	8	22019379	22019379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:22019379C>T	ENST00000521315.1	+	1	70	c.38C>T	c.(37-39)cCg>cTg	p.P13L	SFTPC_ENST00000318561.3_Missense_Mutation_p.P13L|SFTPC_ENST00000524255.1_Missense_Mutation_p.P13L|SFTPC_ENST00000522109.1_Missense_Mutation_p.P13L|SFTPC_ENST00000520605.1_Missense_Mutation_p.P13L|SFTPC_ENST00000437090.2_Missense_Mutation_p.P13L			P11686	PSPC_HUMAN	surfactant protein C	13					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ATGGAGAGCCCGCCGgtgagt	0.572000													13	53					0	0	0.093190	0	0
MBD3	53615	broad.mit.edu	37	19	1581180	1581180	+	Silent	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:1581180G>C	ENST00000590550.2	-	4	793	c.420C>G	c.(418-420)ctC>ctG	p.L140L	MBD3_ENST00000434436.3_Silent_p.L196L|MBD3_ENST00000156825.1_Silent_p.L196L|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Silent_p.L164L			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	196					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGGCCGAGAGCTGTCCCG	0.652000													5	14					0	0	0.217242	0	0
MDN1	23195	broad.mit.edu	37	6	90372597	90372597	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:90372597C>T	ENST00000369393.3	-	86	14441	c.14326G>A	c.(14326-14328)Gag>Aag	p.E4776K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4776K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4776					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAAGCCTCTCATCTAGTTTG	0.443000													22	78					0	0	0.279207	0	0
PEX1	5189	broad.mit.edu	37	7	92136441	92136441	+	Splice_Site	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:92136441C>T	ENST00000248633.4	-	10	1766		c.e10-1		PEX1_ENST00000438045.1_Splice_Site|PEX1_ENST00000541751.1_Splice_Site|PEX1_ENST00000428214.1_Splice_Site	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCACTCCTCTGTAAAAAAT	0.403000													4	21					0	0	0.150653	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103166	21103166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:21103166C>T	ENST00000312239.5	-	4	413	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HP1BP3_ENST00000375000.1_Missense_Mutation_p.E92K|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	92					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGCTCTGCCTCACTCGAAGTA	0.423000													21	102					0	0	0.219247	0	0
HAPLN4	404037	broad.mit.edu	37	19	19372352	19372352	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:19372352G>A	ENST00000291481.7	-	2	87	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	8					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CGCCGGGACCGAGGGCCGCCC	0.766000													4	10					0	0	0.150653	0	0
PINK1	65018	broad.mit.edu	37	1	20975048	20975048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:20975048G>A	ENST00000321556.4	+	6	1268	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	392	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGGCTGATGAGAGCATCGG	0.612000													3	29					0	0	0.115264	0	0
C7orf31	136895	broad.mit.edu	37	7	25175685	25175685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:25175685G>A	ENST00000409280.1	-	10	1987	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S560L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	560										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTCTAGAATTGATTTATGGAA	0.403000													16	83					0	0	0.160694	0	0
MEF2A	4205	broad.mit.edu	37	15	100250868	100250868	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:100250868G>T	ENST00000354410.5	+	10	1650	c.1021G>T	c.(1021-1023)Gcc>Tcc	p.A341S	MEF2A_ENST00000558812.1_Missense_Mutation_p.A279S|MEF2A_ENST00000449277.2_Missense_Mutation_p.A271S|MEF2A_ENST00000557785.1_Missense_Mutation_p.A339S|MEF2A_ENST00000453228.2_Missense_Mutation_p.A339S|MEF2A_ENST00000557942.1_Missense_Mutation_p.A347S|MEF2A_ENST00000338042.6_Missense_Mutation_p.A348S	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	349					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	p.A349S(1)|p.A339S(1)|p.A341S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGACCTGTCAGCCCTTCAAGG	0.527000													4	20					0.00909568	0.00928717	0.150653	1	0
VKORC1	79001	broad.mit.edu	37	16	31105715	31105715	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:31105715G>T	ENST00000394971.3	-	1	155	c.108C>A	c.(106-108)ttC>ttA	p.F36L	VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000498155.1_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CTCTTATTTCGAACACCAGTA	0.602000													4	54					0.00024832	0.000257157	0.150653	1	0
MAP3K13	9175	broad.mit.edu	37	3	185198087	185198087	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:185198087G>C	ENST00000265026.3	+	13	2903	c.2569G>C	c.(2569-2571)Gat>Cat	p.D857H	MAP3K13_ENST00000446828.1_Missense_Mutation_p.D650H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D713H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D713H|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D857H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	857					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCTGTGTCTGATGGAGAAGA	0.473000													16	141					0	0	0.132662	0	0
PCID2	55795	broad.mit.edu	37	13	113832567	113832567	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:113832567T>A	ENST00000375457.2	-	14	1735	c.1139A>T	c.(1138-1140)cAg>cTg	p.Q380L	PCID2_ENST00000375479.2_Missense_Mutation_p.Q382L|PCID2_ENST00000246505.5_Missense_Mutation_p.Q436L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000351317.3_Missense_Mutation_p.Q359L|PCID2_ENST00000375459.1_Missense_Mutation_p.Q380L|PCID2_ENST00000375477.1_Missense_Mutation_p.Q382L|PCID2_ENST00000337344.4_Missense_Mutation_p.Q382L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	382	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CACCAGCTTCTGATGCTGATG	0.522000													25	26					0	0	0.309145	0	0
NUCB1	4924	broad.mit.edu	37	19	49422529	49422529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:49422529G>A	ENST00000405315.4	+	10	1322	c.988G>A	c.(988-990)Ggg>Agg	p.G330R	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.G330R|NUCB1_ENST00000263273.5_Missense_Mutation_p.G330R	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	330						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGGGGACACCGGGGAGGGCTG	0.577000													6	37					0	0	0.278610	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686248	36686248	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:36686248G>A	ENST00000265113.4	+	10	1982	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.L457L	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	502					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GACATGAACTGAAGAACAGAG	0.498000													20	198					0	0	0.249174	0	0
OR2H2	7932	broad.mit.edu	37	6	29556072	29556072	+	Silent	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:29556072T>C	ENST00000383640.2	+	1	390	c.351T>C	c.(349-351)gcT>gcC	p.A117A	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	117					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGTGATGGCTTTTGATCGCT	0.587000													3	86					0	0	0.184627	0	0
FAM194A	131831	broad.mit.edu	37	3	150377925	150377925	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:150377925C>T	ENST00000295910.6	-	14	1798	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	FAM194A_ENST00000491361.1_Silent_p.E436E	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	582										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGATTGGAATCTCCTCAGGGT	0.463000													10	129					0	0	0.361761	0	0
NEDD1	121441	broad.mit.edu	37	12	97328772	97328772	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:97328772T>C	ENST00000266742.4	+	7	847	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	NEDD1_ENST00000457368.2_Missense_Mutation_p.Y81H|NEDD1_ENST00000429527.2_Missense_Mutation_p.Y170H|NEDD1_ENST00000557644.1_Missense_Mutation_p.Y177H|NEDD1_ENST00000411739.2_Missense_Mutation_p.Y81H|NEDD1_ENST00000555114.1_3'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	170				Y -> C (in Ref. 1; BAC04099).	cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GCACTTGAAGTACTCCTTGTT	0.328000													13	75					0	0	0.093190	0	0
NDUFA7	4701	broad.mit.edu	37	19	8381382	8381382	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:8381382C>G	ENST00000301457.2	-	3	286	c.249G>C	c.(247-249)gaG>gaC	p.E83D	NDUFA7_ENST00000598884.1_Missense_Mutation_p.E83D	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	83					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	ATCCTCACCTCTCTGCTGGCT	0.587000													15	82					0	0	0.132662	0	0
TTC1	7265	broad.mit.edu	37	5	159437549	159437549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:159437549C>T	ENST00000231238.5	+	2	124	c.14C>T	c.(13-15)tCa>tTa	p.S5L	TTC1_ENST00000522793.1_Missense_Mutation_p.S5L	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	5					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GGGGAGAAGTCAGAGAACTGT	0.463000													7	44					0	0	0.335167	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325197	77325197	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:77325197A>C	ENST00000282849.5	-	21	3786	c.3368T>G	c.(3367-3369)aTg>aGg	p.M1123R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1123	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCAGCTACCATGTTGTACAC	0.502000													16	86					0	0	0.160694	0	0
VWF	7450	broad.mit.edu	37	12	6135131	6135131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6135131C>T	ENST00000261405.5	-	23	3303	c.3049G>A	c.(3049-3051)Gac>Aac	p.D1017N		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1017	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCACAGGGTCTTCCTCCACT	0.527000													13	63					0	0	0.093190	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167508	140167508	+	Missense_Mutation	SNP	G	G	A	rs148820533		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:140167508G>A	ENST00000458420.3	+	6	1125	c.935G>A	c.(934-936)cGg>cAg	p.R312Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	312					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTTGTGACCGGGAGACCTAC	0.443000										HNSCC(16;0.037)			22	236					0	0	0.219247	0	0
MYL7	58498	broad.mit.edu	37	7	44179945	44179945	+	Missense_Mutation	SNP	G	G	A	rs142668114		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:44179945G>A	ENST00000458240.1	-	3	482	c.194C>T	c.(193-195)aCg>aTg	p.T65M	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Missense_Mutation_p.T92M			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	92	EF-hand 1.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						CCCAAAGAGCGTGAGGAAGAC	0.642000													10	71					0	0	0.080935	0	0
LSM4	25804	broad.mit.edu	37	19	18420497	18420497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:18420497C>T	ENST00000593829.1	-	4	572	c.319G>A	c.(319-321)Gct>Act	p.A107T	LSM4_ENST00000252816.5_Missense_Mutation_p.A93T	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	107					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						CCTCGGCCAGCGCCGCCCATG	0.682000													9	40					0	0	0.307466	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530267	80530267	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:80530267G>A	ENST00000295057.3	-	2	1334	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.F226F|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	226						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAAGTGGGCGAAGTTCACCT	0.582000										HNSCC(69;0.2)			17	87					0	0	0.204396	0	0
CCDC155	147872	broad.mit.edu	37	19	49910549	49910549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:49910549C>T	ENST00000447857.3	+	11	1134	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	310						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACCATCCTCTCTGAGGTAAGG	0.572000													3	21					0	0	0.150653	0	0
ASXL3	80816	broad.mit.edu	37	18	31325516	31325516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:31325516C>G	ENST00000269197.5	+	12	5704	c.5704C>G	c.(5704-5706)Ccc>Gcc	p.P1902A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCGGCTGCTCCCCTCGTGTAG	0.498000													6	93					0	0	0.217242	0	0
DTX3L	151636	broad.mit.edu	37	3	122287708	122287708	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:122287708G>C	ENST00000296161.4	+	3	961	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	258					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CAACTCAATAGAGAAAAGATT	0.373000													3	33					0	0	0.115264	0	0
GPR133	283383	broad.mit.edu	37	12	131498863	131498863	+	Missense_Mutation	SNP	C	C	T	rs149266247	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:131498863C>T	ENST00000261654.5	+	13	2010	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	GPR133_ENST00000376682.4_Missense_Mutation_p.T170M|GPR133_ENST00000535015.1_Missense_Mutation_p.T516M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCACTCATTACGGTCCACCTC	0.587000													10	47					0	0	0.361761	0	0
ADARB1	104	broad.mit.edu	37	21	46596022	46596022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:46596022G>A	ENST00000539173.1	+	4	841	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ADARB1_ENST00000389863.4_Missense_Mutation_p.E136K|ADARB1_ENST00000360697.3_Missense_Mutation_p.E136K|ADARB1_ENST00000348831.4_Missense_Mutation_p.E136K|ADARB1_ENST00000437626.1_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	136	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCATGCTGCTGAGAAGGCCTT	0.542000													9	43					0	0	0.307466	0	0
NEK9	91754	broad.mit.edu	37	14	75567725	75567725	+	Missense_Mutation	SNP	C	C	T	rs151072111		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:75567725C>T	ENST00000238616.5	-	16	2130	c.1972G>A	c.(1972-1974)Ggt>Agt	p.G658S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	658					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AACTCATCACCGCAGGAGACC	0.517000													21	33					0	0	0.249174	0	0
TTN	7273	broad.mit.edu	37	2	179424911	179424911	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:179424911A>G	ENST00000589042.1	-	326	86172	c.85948T>C	c.(85948-85950)Ttc>Ctc	p.F28650L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F27009L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F26082L|TTN_ENST00000460472.2_Missense_Mutation_p.F19585L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F19777L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F19710L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27009	Fibronectin type-III 108.						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)			GATGGTAGGAACACTGGATCT	0.463000													17	65					0	0	0.204396	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769043	140769043	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:140769043A>T	ENST00000519479.1	+	1	1592	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACACTGCAGGCCCGCGAC	0.677000													18	31					0	0	0.160694	0	0
C4orf6	10141	broad.mit.edu	37	4	5528029	5528029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5528029G>A	ENST00000195455.2	+	2	428	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	85					nervous system development					large_intestine(1)|prostate(1)	2						GACTGTCTCCGGTGCTCACTC	0.438000													6	40					0	0	0.217242	0	0
PITRM1	10531	broad.mit.edu	37	10	3189404	3189404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:3189404G>C	ENST00000380989.2	-	20	2315	c.2277C>G	c.(2275-2277)atC>atG	p.I759M	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.I660M|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.I316M|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000224949.4_Missense_Mutation_p.I758M	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	660					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGATGGGTTTGATATCTGTCA	0.438000													8	49					0	0	0.361761	0	0
CSN3	1448	broad.mit.edu	37	4	71114847	71114847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:71114847C>G	ENST00000304954.3	+	4	306	c.220C>G	c.(220-222)Cca>Gca	p.P74A		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATTAATAATCCATATGTGCC	0.433000													8	56					0	0	0.278610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120247	64120247	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64120247G>A	ENST00000356786.5	+	20	3432	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	CCDC88B_ENST00000359902.2_Missense_Mutation_p.V282M|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1130					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGGGCCAGCGTGGAGGCACA	0.657000													4	63					0	0	0.150653	0	0
TPI1	7167	broad.mit.edu	37	12	6979473	6979473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6979473G>A	ENST00000229270.4	+	7	1124	c.787G>A	c.(787-789)Gat>Aat	p.D263N	TPI1_ENST00000396705.5_Missense_Mutation_p.D226N|TPI1_ENST00000535434.1_Missense_Mutation_p.D144N|TPI1_ENST00000488464.2_Missense_Mutation_p.D144N	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	226					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAGCCAGCCTGATGTGGATGG	0.572000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	0.307466	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204408140	204408140	+	Missense_Mutation	SNP	C	C	T	rs75201325		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:204408140C>T	ENST00000367187.3	-	24	3995	c.3439G>A	c.(3439-3441)Gtg>Atg	p.V1147M	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.V1119M	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1147	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGCCGGTCACCCCATGCTCC	0.592000													9	19					0	0	0.361761	0	0
GSS	2937	broad.mit.edu	37	20	33529522	33529522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:33529522G>A	ENST00000216951.2	-	6	700	c.602C>T	c.(601-603)tCa>tTa	p.S201L	GSS_ENST00000451957.2_Intron|GSS_ENST00000541098.1_Missense_Mutation_p.S73L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	201					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTACTTGGGTGAGCCGTAGAG	0.483000													11	63					0	0	0.361761	0	0
TAB1	10454	broad.mit.edu	37	22	39826084	39826084	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:39826084G>A	ENST00000216160.6	+	11	1434	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	458					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTCCAGCTCTGACGGAGGCCT	0.627000													7	86					0	0	0.080935	0	0
VEZT	55591	broad.mit.edu	37	12	95694420	95694420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:95694420G>C	ENST00000436874.1	+	12	2416	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E723Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	771						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AATAATAGAAGAAAATAAAAA	0.383000													4	23					0	0	0.150653	0	0
RIF1	55183	broad.mit.edu	37	2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:152293769C>T	ENST00000243326.4	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000428287.2_Missense_Mutation_p.P463S|RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	463					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)		ATTGGAACATCCGTTAATCAG	0.338000													11	52					0	0	0.105934	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175266	156175266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:156175266G>A	ENST00000302490.8	+	4	1199	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	KCNAB1_ENST00000490337.1_Missense_Mutation_p.A128T|KCNAB1_ENST00000471742.1_Missense_Mutation_p.A117T|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.A110T|KCNAB1_ENST00000389636.5_Missense_Mutation_p.A128T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	128						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGACCATCGCCTATGAAAG	0.473000													17	152					0	0	0.219247	0	0
COMMD7	149951	broad.mit.edu	37	20	31291246	31291246	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:31291246G>C	ENST00000446419.1	-	9	1154	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	COMMD7_ENST00000278980.6_Missense_Mutation_p.Q181E	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN	COMM domain containing 7	181	COMM.				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)|endometrium(1)|lung(3)	5						CTGTAGAACTGAGGCAAGGTT	0.478000													7	46					0	0	0.278610	0	0
ZNF653	115950	broad.mit.edu	37	19	11598248	11598248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:11598248C>T	ENST00000293771.5	-	4	1166	c.1030G>A	c.(1030-1032)Ggt>Agt	p.G344S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G344C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCGGGGACACCGCTGCCTGCT	0.657000													26	24					0	0	0.338820	0	0
SCML2	10389	broad.mit.edu	37	X	18283829	18283829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:18283829A>G	ENST00000251900.4	-	8	983	c.824T>C	c.(823-825)tTa>tCa	p.L275S	SCML2_ENST00000398048.3_Missense_Mutation_p.L11S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	275					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGTGTTGGTAATATTAGAGT	0.418000													13	27					0	0	0.093190	0	0
COL2A1	1280	broad.mit.edu	37	12	48367873	48367873	+	Splice_Site	SNP	G	G	A	rs121912886		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:48367873G>A	ENST00000380518.3	-	53	4480	c.4317_splice	c.e53+1	p.T1439_splice	COL2A1_ENST00000337299.6_Splice_Site_p.T1370_splice|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1439	Fibrillar collagen NC1.		T -> M (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCACTCACCGTGCAGCCATC	0.617000													7	52					0	0	0.278610	0	0
HID1	283987	broad.mit.edu	37	17	72959983	72959983	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:72959983C>A	ENST00000425042.2	-	3	316	c.239G>T	c.(238-240)gGa>gTa	p.G80V	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		ACTCTCAGCTCCCTGCACCAG	0.652000													12	32					1.15919e-05	1.21339e-05	0.204396	1	0
ATG2A	23130	broad.mit.edu	37	11	64678743	64678743	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:64678743C>T	ENST00000421419.2	-	10	1347	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	ATG2A_ENST00000377264.3_Silent_p.K411K			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	411							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGGGCCATCTTGCCTGAGG	0.632000													28	46					0	0	0.324025	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660299	50660299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr22:50660299G>A	ENST00000439308.2	-	16	2981	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T830M|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	830					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCCGGAGACGTGACCTGAAA	0.622000													6	32					0	0	0.278610	0	0
RAMP1	10267	broad.mit.edu	37	2	238785963	238785963	+	Silent	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:238785963C>A	ENST00000254661.4	+	2	282	c.150C>A	c.(148-150)gcC>gcA	p.A50A	RAMP1_ENST00000403885.1_Silent_p.A28A|RAMP1_ENST00000409726.1_Silent_p.A28A|RAMP1_ENST00000404910.2_Silent_p.A28A	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	50					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	ACATGGAGGCCGTCGGGGAGA	0.657000													19	61					1.01871e-10	1.09531e-10	0.204396	1	0
SFMBT2	57713	broad.mit.edu	37	10	7409703	7409703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr10:7409703C>T	ENST00000361972.4	-	4	434	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SFMBT2_ENST00000397160.3_Missense_Mutation_p.R115H|SFMBT2_ENST00000379711.2_Missense_Mutation_p.R115H|SFMBT2_ENST00000397167.1_Missense_Mutation_p.R115H|SFMBT2_ENST00000379713.3_Missense_Mutation_p.R115H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	115					regulation of transcription, DNA-dependent	nucleus		p.R115H(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTCGGCCCTGCGGTCCTCCCC	0.612000													7	35					0	0	0.278610	0	0
CRB1	23418	broad.mit.edu	37	1	197396601	197396601	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:197396601T>C	ENST00000367397.1	+	3	1147	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L	CRB1_ENST00000535699.1_Missense_Mutation_p.F647L|CRB1_ENST00000544212.1_Missense_Mutation_p.F197L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.F716L|CRB1_ENST00000367399.2_Missense_Mutation_p.F604L|CRB1_ENST00000543483.1_3'UTR			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	716	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGCAGGCAGATTTGGCCAGGA	0.433000													5	31					0	0	0.248553	0	0
RPS6KB1	6198	broad.mit.edu	37	17	57990070	57990070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:57990070G>A	ENST00000225577.4	+	3	238	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E73K|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.E20K|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E73K	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	73					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGAGAAATTTGAAATCTCAGA	0.373000													17	115					0	0	0.146539	0	0
PRKDC	5591	broad.mit.edu	37	8	48798673	48798673	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr8:48798673C>T	ENST00000314191.2	-	37	4661	c.4605G>A	c.(4603-4605)gcG>gcA	p.A1535A	PRKDC_ENST00000338368.3_Silent_p.A1535A|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1536	Interaction with C1D.|Leucine-zipper.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGACAGCACCGCTGGGTTCA	0.527000								Non-homologous end-joining					17	23					0	0	0.146539	0	0
CCDC89	220388	broad.mit.edu	37	11	85396236	85396236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:85396236C>T	ENST00000316398.3	-	1	1084	c.938G>A	c.(937-939)cGg>cAg	p.R313Q		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	313						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTGCTCAAACCGCTCCAGCGC	0.512000													14	51					0	0	0.132662	0	0
LOC440700	440700	broad.mit.edu	37	1	165678677	165678677	+	RNA	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:165678677G>C	ENST00000400982.2	+	0	688					NR_036683.1																						TTCATGGCTAGAAGGCTTCAG	0.483000													5	15					0	0	0.217242	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656665	40656665	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:40656665C>G	ENST00000406785.1	-	2	945	c.756G>C	c.(754-756)gcG>gcC	p.A252A	SLC8A1_ENST00000408028.2_Silent_p.A252A|SLC8A1_ENST00000406391.2_Silent_p.A252A|SLC8A1_ENST00000405901.3_Silent_p.A252A|SLC8A1_ENST00000405269.1_Silent_p.A252A|SLC8A1_ENST00000403092.1_Silent_p.A252A|SLC8A1_ENST00000542024.1_Silent_p.A252A|SLC8A1_ENST00000542756.1_Silent_p.A252A|SLC8A1_ENST00000332839.4_Silent_p.A252A|SLC8A1_ENST00000402441.1_Silent_p.A252A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	252					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCTCCTATCCGCTACCCAAG	0.443000													18	107					0	0	0.189662	0	0
LNPEP	4012	broad.mit.edu	37	5	96314937	96314937	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:96314937C>G	ENST00000231368.5	+	2	807	c.115C>G	c.(115-117)Cta>Gta	p.L39V	LNPEP_ENST00000395770.3_Missense_Mutation_p.L25V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	39					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTTACATCCTCTAGAGCCTGA	0.498000													11	74					0	0	0.080935	0	0
C4orf50	389197	broad.mit.edu	37	4	5961120	5961120	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:5961120C>T	ENST00000531445.1	-	7	2281	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	C4orf50_ENST00000324058.5_Silent_p.P271P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	271										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTAACTCCAGCGGTGATTTAT	0.458000													16	100					0	0	0.146539	0	0
DEF8	54849	broad.mit.edu	37	16	90016035	90016035	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:90016035G>A	ENST00000268676.7	+	2	251	c.162G>A	c.(160-162)acG>acA	p.T54T	DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563594.1_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563795.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	54					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CGGGCAGGACGCGGGAGGCCA	0.677000													10	48					0	0	0.361761	0	0
TIE1	7075	broad.mit.edu	37	1	43778831	43778831	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:43778831C>T	ENST00000372476.3	+	13	2032	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	TIE1_ENST00000433781.2_Silent_p.H296H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	651	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACACCTCCACGCCCAGGCCC	0.637000													6	45					0	0	0.217242	0	0
NKD1	85407	broad.mit.edu	37	16	50583366	50583366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:50583366G>A	ENST00000268459.3	+	3	316	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	31					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GCCTGGGCTCGGAAGGGCATC	0.692000													6	21					0	0	0.217242	0	0
EFCAB6	64800	broad.mit.edu	37	22	44079707	44079707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr22:44079707C>A	ENST00000262726.7	-	12	1424	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.E239*|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGATGTTTTCCTTGTGAGAT	0.343000													21	91					1.28384e-07	1.3549e-07	0.234183	1	0
DHRS4	10901	broad.mit.edu	37	14	24424278	24424278	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:24424278G>T	ENST00000313250.5	+	2	366	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	DHRS4_ENST00000397075.3_Missense_Mutation_p.D55Y|DHRS4_ENST00000543741.2_Missense_Mutation_p.D55Y|DHRS4_ENST00000421831.1_Missense_Mutation_p.D37Y|DHRS4_ENST00000308178.8_Missense_Mutation_p.D37Y|DHRS4_ENST00000382761.3_Missense_Mutation_p.D37Y|DHRS4_ENST00000558263.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000397074.3_Missense_Mutation_p.D55Y|DHRS4_ENST00000397073.2_Missense_Mutation_p.D37Y|DHRS4_ENST00000558581.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000559632.1_Missense_Mutation_p.D55Y	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	55						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TTTGGCCCAGGACGGGGCCCA	0.647000													15	81					8.60227e-14	9.35456e-14	0.146539	1	0
BPIFA3	128861	broad.mit.edu	37	20	31813054	31813054	+	Splice_Site	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr20:31813054G>T	ENST00000375454.3	+	4	746		c.e4+1		BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Splice_Site	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3							extracellular region	lipid binding										TCCTCACTGAGTAAGACCCCA	0.577000													9	84					0.00448238	0.00457843	0.307466	1	0
LINC00969	440993	broad.mit.edu	37	3	195398339	195398339	+	RNA	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:195398339C>T	ENST00000445430.1	+	0	1088																											TCCTAAAGACCTACATTTTGA	0.488000													6	4					0	0	0.278610	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390837	8390837	+	Silent	SNP	C	C	T	rs149921947	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:8390837C>T	ENST00000471889.1	+	5	1669	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.S462S|SLC45A1_ENST00000289877.8_Silent_p.S428S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	428					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGACCTCCGGCTGTGACG	0.657000													12	82					0	0	0.105934	0	0
MAST4	375449	broad.mit.edu	37	5	66398375	66398375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:66398375C>T	ENST00000404260.3	+	9	1399	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	MAST4_ENST00000403625.2_Missense_Mutation_p.S361F|MAST4_ENST00000403666.1_Missense_Mutation_p.S172F|MAST4_ENST00000490016.2_Missense_Mutation_p.S172F|MAST4_ENST00000261569.7_Missense_Mutation_p.S167F|MAST4_ENST00000405643.1_Missense_Mutation_p.S182F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	364						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)		CCTGGACGTTCTCCCGCCTGC	0.373000													16	59					0	0	0.132662	0	0
ANO6	196527	broad.mit.edu	37	12	45810577	45810577	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:45810577G>A	ENST00000320560.8	+	17	2309	c.2107G>A	c.(2107-2109)Gca>Aca	p.A703T	ANO6_ENST00000441606.2_Missense_Mutation_p.A685T|ANO6_ENST00000435642.1_Missense_Mutation_p.A703T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.A703T|ANO6_ENST00000423947.3_Missense_Mutation_p.A724T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	703					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAGAGTGGACGCATGGAAACT	0.483000													9	28					0	0	0.307466	0	0
PSG1	5669	broad.mit.edu	37	19	43382154	43382154	+	Missense_Mutation	SNP	C	C	T	rs142473373		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:43382154C>T	ENST00000244296.2	-	2	478	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	PSG1_ENST00000595356.1_Missense_Mutation_p.R114Q|PSG1_ENST00000595124.1_Missense_Mutation_p.R114Q|PSG1_ENST00000436291.2_Missense_Mutation_p.R114Q|PSG1_ENST00000403380.3_Missense_Mutation_p.R114Q|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.R114Q	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATT	0.453000													149	136					0	0	0.323286	0	0
LIMA1	51474	broad.mit.edu	37	12	50616056	50616056	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:50616056G>A	ENST00000341247.4	-	4	527	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000394943.3_Silent_p.P126P|LIMA1_ENST00000552783.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	126					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GTCTAGATCTGGGGTGGATTT	0.512000													11	60					0	0	0.105934	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964589	119964589	+	Silent	SNP	G	G	A	rs114527791	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:119964589G>A	ENST00000543831.1	+	4	714	c.465G>A	c.(463-465)ccG>ccA	p.P155P	HSD3B2_ENST00000369416.3_Silent_p.P155P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	155			P -> L (in AH2; nonsalt-wasting form).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CTCCATACCCGTACAGCAAAA	0.498000													21	74					0	0	0.219247	0	0
JMJD1C	221037	broad.mit.edu	37	10	64979732	64979732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr10:64979732G>C	ENST00000399262.2	-	4	677	c.459C>G	c.(457-459)gaC>gaG	p.D153E	JMJD1C_ENST00000489372.2_Intron|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_5'UTR|JMJD1C_ENST00000402544.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	153					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGTTTAGGCTGTCTATGTCGT	0.423000													17	70					0	0	0.189662	0	0
HIF3A	64344	broad.mit.edu	37	19	46832529	46832529	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:46832529C>G	ENST00000339613.2	+	12	1593	c.1338C>G	c.(1336-1338)ctC>ctG	p.L446L	HIF3A_ENST00000377670.4_Silent_p.L502L|HIF3A_ENST00000300862.3_Silent_p.L500L|HIF3A_ENST00000244303.6_Silent_p.L433L|HIF3A_ENST00000600383.1_Silent_p.L433L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Silent_p.L451L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACTTCCAGCTCAACGCCAGCG	0.632000													17	81					0	0	0.160694	0	0
GDF2	2658	broad.mit.edu	37	10	48414496	48414496	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr10:48414496C>T	ENST00000249598.1	-	2	531	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	124					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGGGGAAGTCCTCTGTGGCAG	0.507000													3	21					0	0	0.115264	0	0
SLC39A14	23516	broad.mit.edu	37	8	22266000	22266000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr8:22266000G>A	ENST00000381237.1	+	3	567	c.448G>A	c.(448-450)Gct>Act	p.A150T	SLC39A14_ENST00000240095.6_Missense_Mutation_p.A150T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A150T|SLC39A14_ENST00000289952.5_Missense_Mutation_p.A150T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	150						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GCGGCCAAGCGCTGTTGAAGG	0.642000													4	19					0	0	0.150653	0	0
DMGDH	29958	broad.mit.edu	37	5	78338269	78338269	+	Nonsense_Mutation	SNP	G	G	A	rs143021634	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:78338269G>A	ENST00000255189.3	-	7	1058	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Nonsense_Mutation_p.R143*	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	344					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCATGATTCGATCTAGATCA	0.423000													11	64					0	0	0.132662	0	0
NTRK3	4916	broad.mit.edu	37	15	88483978	88483978	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr15:88483978T>C	ENST00000394480.1	-	15	1913	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	NTRK3_ENST00000542733.2_Missense_Mutation_p.Q433R|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q523R|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q531R|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q531R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	531					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTAATGTGCTGCACATCTGT	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			20	78					0	0	0.234183	0	0
FSTL4	23105	broad.mit.edu	37	5	132652228	132652228	+	Missense_Mutation	SNP	G	G	A	rs139711882	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:132652228G>A	ENST00000265342.7	-	5	775	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	176	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCAGGAGGCGCTTCTGGGAG	0.587000											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	38					0	0	0.093190	0	0
CAV3	859	broad.mit.edu	37	3	8787388	8787388	+	Silent	SNP	C	C	T	rs116840802		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:8787388C>T	ENST00000343849.2	+	2	368	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Silent_p.F97F	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	97	Required for interaction with DAG1.		F -> C (in LQT9; increase in late sodium current).|Missing (in HYPCK).		cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCATCTCCTTCTGCCACATCT	0.582000													4	15					0	0	0.150653	0	0
CXorf58	254158	broad.mit.edu	37	X	23928433	23928433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chrX:23928433C>T	ENST00000379211.3	+	2	563	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	5										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AATCGTTCCTCAAATGTACCA	0.348000													7	10					0	0	0.248553	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739793	46739793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:46739793C>G	ENST00000306448.4	-	2	1171	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E20Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	20					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTCCTGCTCAATGAAAGCC	0.507000													10	53					0	0	0.335167	0	0
OR4A15	81328	broad.mit.edu	37	11	55135812	55135812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:55135812C>A	ENST00000314706.3	+	1	453	c.453C>A	c.(451-453)taC>taA	p.Y151*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGATCGATACATGGCCATCT	0.438000													35	154					4.3181e-19	4.71365e-19	0.173368	1	0
MAP6	4135	broad.mit.edu	37	11	75299192	75299192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:75299192G>A	ENST00000304771.3	-	4	2104	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'UTR|MAP6_ENST00000526740.1_Nonsense_Mutation_p.Q123*	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	452						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACAGGACCTTGAGTCTTACTT	0.537000													16	53					0	0	0.146539	0	0
MAP3K14	9020	broad.mit.edu	37	17	43368116	43368116	+	RNA	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:43368116C>A	ENST00000344686.2	-	0	104							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCCATCTCCCAGGCTTGTGC	0.592000													13	82					6.31663e-08	6.69095e-08	0.132662	1	0
ITPRIP	85450	broad.mit.edu	37	10	106075039	106075039	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr10:106075039G>A	ENST00000278071.2	-	3	1223	c.771C>T	c.(769-771)tgC>tgT	p.C257C	ITPRIP_ENST00000358187.2_Silent_p.C257C|ITPRIP_ENST00000337478.1_Silent_p.C257C	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	257						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGGTCTTGCCGCAGATGCAGC	0.647000													24	51					0	0	0.324025	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841992	27841992	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:27841992G>A	ENST00000318304.8	+	26	2842	c.2559G>A	c.(2557-2559)ttG>ttA	p.L853L	PPFIBP1_ENST00000542629.1_Silent_p.L822L|PPFIBP1_ENST00000537927.1_Silent_p.L700L|PPFIBP1_ENST00000228425.6_Silent_p.L847L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	853	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCAGTTATTGAACATCCCAC	0.418000													10	68					0	0	0.335167	0	0
CACNA1D	776	broad.mit.edu	37	3	53700551	53700551	+	Missense_Mutation	SNP	G	G	A	rs148674323		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:53700551G>A	ENST00000288139.3	+	7	1223	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V369M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V369M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	369					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGGACAGATGTGCTCTACTG	0.512000													41	64					0	0	0.268233	0	0
STARD3NL	83930	broad.mit.edu	37	7	38259205	38259205	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:38259205T>G	ENST00000009041.7	+	7	850	c.593T>G	c.(592-594)cTt>cGt	p.L198R	STARD3NL_ENST00000544203.1_Missense_Mutation_p.L191R|STARD3NL_ENST00000434197.1_Missense_Mutation_p.L180R|STARD3NL_ENST00000396013.1_Missense_Mutation_p.L198R	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	198	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						AGGGCAGCACTTATACCTGGT	0.418000													8	84					0	0	0.307466	0	0
CDCP2	200008	broad.mit.edu	37	1	54610233	54610233	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:54610233C>G	ENST00000371330.1	-	2	1180	c.333G>C	c.(331-333)ccG>ccC	p.P111P	RP11-446E24.4_ENST00000525949.1_Intron|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	111	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGAAGGGCGGCGGGGGCACCT	0.587000													9	33					0	0	0.361761	0	0
HAT1	8520	broad.mit.edu	37	2	172809472	172809472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:172809472C>T	ENST00000264108.4	+	4	298	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R3C	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	88					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACAATGTTCCGTGTTGAATA	0.313000													10	45					0	0	0.335167	0	0
HSCB	150274	broad.mit.edu	37	22	29139936	29139936	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr22:29139936C>T	ENST00000216027.3	+	2	368	c.303C>T	c.(301-303)gtC>gtT	p.V101V	HSCB_ENST00000398941.2_Silent_p.V101V|HSCB_ENST00000495977.1_3'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	101	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGCGTCTTGTCCACCCAGATT	0.483000													14	91					0	0	0.146539	0	0
SCN1A	6323	broad.mit.edu	37	2	166856246	166856246	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:166856246A>G	ENST00000423058.2	-	22	4342	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	SCN1A_ENST00000409050.1_Missense_Mutation_p.V1414A|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1431A|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1442A|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1442						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)	TCTGGAATCAACTGCTGCATA	0.308000													12	84					0	0	0.119110	0	0
PLA2R1	22925	broad.mit.edu	37	2	160801458	160801458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:160801458G>A	ENST00000283243.7	-	28	4309	c.4103C>T	c.(4102-4104)cCg>cTg	p.P1368L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1368	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCTTGACACGGGGATAGCTG	0.428000													12	92					0	0	0.093190	0	0
CDH11	1009	broad.mit.edu	37	16	65032724	65032724	+	Silent	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:65032724A>G	ENST00000394156.3	-	4	717	c.264T>C	c.(262-264)atT>atC	p.I88I	CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000268603.4_Silent_p.I88I			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	88	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAATGTATTTAATGTTCCCAT	0.408000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			7	36					0	0	0.278610	0	0
PPP1R26	9858	broad.mit.edu	37	9	138376726	138376726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr9:138376726G>C	ENST00000356818.2	+	4	919	c.370G>C	c.(370-372)Gac>Cac	p.D124H	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000605286.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000605660.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000401470.3_Missense_Mutation_p.D124H	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	124						nucleolus	protein binding										GCTAGATTCAGACAGTGATGA	0.612000													71	49					0	0	0.323286	0	0
GSDMB	55876	broad.mit.edu	37	17	38073560	38073560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:38073560C>T	ENST00000394175.2	-	1	233	c.10G>A	c.(10-12)Gta>Ata	p.V4I	GSDMB_ENST00000360317.3_Missense_Mutation_p.V4I|GSDMB_ENST00000520542.1_Missense_Mutation_p.V4I|GSDMB_ENST00000418519.1_Missense_Mutation_p.V4I|GSDMB_ENST00000309481.7_Missense_Mutation_p.V4I|GSDMB_ENST00000394179.1_Missense_Mutation_p.V4I	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	4						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TCCTCAAATACGCTGAACATT	0.433000													18	47					0	0	0.160694	0	0
KEAP1	9817	broad.mit.edu	37	19	10610149	10610149	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:10610149G>A	ENST00000171111.5	-	2	1108	c.561C>T	c.(559-561)atC>atT	p.I187I	KEAP1_ENST00000393623.2_Silent_p.I187I|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	187	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGAAGTTGGCGATGCCGATGG	0.592000													4	44					0	0	0.150653	0	0
XKR4	114786	broad.mit.edu	37	8	56436657	56436657	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr8:56436657G>C	ENST00000327381.5	+	3	1924	c.1824G>C	c.(1822-1824)gaG>gaC	p.E608D		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	608						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCATGGGAGAGACATGTTT	0.488000													7	28					0	0	0.248553	0	0
ASXL2	55252	broad.mit.edu	37	2	25978930	25978930	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:25978930G>A	ENST00000435504.4	-	10	1286	c.993C>T	c.(991-993)ttC>ttT	p.F331F	ASXL2_ENST00000336112.4_Silent_p.F303F|ASXL2_ENST00000272341.4_Silent_p.F71F|ASXL2_ENST00000404843.1_Silent_p.F71F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.F71L(1)|p.F331L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGTGAAGAATTCATTGT	0.453000													12	76					0	0	0.093190	0	0
PRKAG2	51422	broad.mit.edu	37	7	151261269	151261269	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:151261269C>T	ENST00000287878.4	-	14	1983	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	PRKAG2_ENST00000418337.2_Silent_p.T252T|PRKAG2_ENST00000492843.1_Silent_p.T369T|PRKAG2_ENST00000392801.2_Silent_p.T449T|PRKAG2_ENST00000433631.2_Silent_p.T368T	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	493					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CCTGGGTCACCGTGATATCTA	0.398000													5	91					0	0	0.217242	0	0
BMP7	655	broad.mit.edu	37	20	55777625	55777625	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr20:55777625G>A	ENST00000395863.3	-	3	1171	c.666C>T	c.(664-666)ggC>ggT	p.G222G	BMP7_ENST00000395864.3_Silent_p.G222G|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.G222G	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	222					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACACCAGCCAGCCCTCCTCCG	0.627000													9	35					0	0	0.361761	0	0
GSN	2934	broad.mit.edu	37	9	124073041	124073041	+	Missense_Mutation	SNP	G	G	A	rs144099356	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr9:124073041G>A	ENST00000373823.3	+	12	1336	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	GSN_ENST00000373818.4_Missense_Mutation_p.R195Q|GSN_ENST00000341272.2_Missense_Mutation_p.R144Q|GSN_ENST00000412819.1_Missense_Mutation_p.R144Q|GSN_ENST00000394353.2_Missense_Mutation_p.R155Q|GSN_ENST00000545652.1_Missense_Mutation_p.R152Q|GSN_ENST00000436847.1_Missense_Mutation_p.R155Q|GSN_ENST00000373808.2_Missense_Mutation_p.R144Q|GSN_ENST00000449733.1_Missense_Mutation_p.R144Q|GSN_ENST00000485767.1_3'UTR			P06396	GELS_HUMAN	gelsolin	195	Actin-severing (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GTCAAAGGGCGGCGTGTGGTC	0.587000													8	47					0	0	0.278610	0	0
SEMG1	6406	broad.mit.edu	37	20	43836743	43836743	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr20:43836743C>G	ENST00000372781.3	+	2	862	c.805C>G	c.(805-807)Cag>Gag	p.Q269E	SEMG1_ENST00000244069.6_Missense_Mutation_p.Q269E	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAATCAACACCAGACAAAAAA	0.398000													9	63					0	0	0.307466	0	0
CHD7	55636	broad.mit.edu	37	8	61765187	61765187	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr8:61765187G>A	ENST00000423902.2	+	30	6504	c.6025G>A	c.(6025-6027)Gag>Aag	p.E2009K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2009					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAATCTGATGAGAGTTTGGA	0.438000													9	22					0	0	0.307466	0	0
TMEM258	746	broad.mit.edu	37	11	61558011	61558011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:61558011C>T	ENST00000543510.1	-	2	1403	c.52G>A	c.(52-54)Gtg>Atg	p.V18M	TMEM258_ENST00000535042.1_5'UTR|TMEM258_ENST00000537328.1_Missense_Mutation_p.V23M					transmembrane protein 258																		AAAAGCACCACGGTCAGATGG	0.527000													8	13					0	0	0.278610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	RNA	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:16946471G>C	ENST00000412962.1	-	0	1048																											CGCTGCAGCTGACTCTGCAGC	0.677000													3	16					0	0	0.115264	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473671	145473671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:145473671C>G	ENST00000323397.4	+	4	1636	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	115										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCCTCGGCTCTTGTCCACGC	0.701000													8	38					0	0	0.307466	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GACACGCACACGCCGCGGGGA	0.657000													20	58					0	0	0.234183	0	0
AFF2	2334	broad.mit.edu	37	X	147924495	147924495	+	Silent	SNP	G	G	A	rs149177157	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chrX:147924495G>A	ENST00000370460.2	+	6	1658	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	AFF2_ENST00000342251.3_Silent_p.S360S|AFF2_ENST00000286437.5_Silent_p.S34S|AFF2_ENST00000370457.5_Silent_p.S360S|AFF2_ENST00000370458.1_Silent_p.S360S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	393					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATAGGAATCGCAGCATCTGA	0.343000													41	23					0	0	0.279185	0	0
FRAS1	80144	broad.mit.edu	37	4	79460452	79460452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:79460452G>A	ENST00000264895.6	+	73	11743	c.11303G>A	c.(11302-11304)cGc>cAc	p.R3768H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3763					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCTAGGACCGCAATCAGCCA	0.438000													14	72					0	0	0.119110	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:145473612C>T	ENST00000323397.4	+	4	1577	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	95										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721000													9	47					0	0	0.307466	0	0
PRDM9	56979	broad.mit.edu	37	5	23527576	23527576	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:23527576T>A	ENST00000296682.3	+	11	2561	c.2379T>A	c.(2377-2379)agT>agA	p.S793R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	793					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S793R(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACCTCCTCAGTCACCAGAGGA	0.562000										HNSCC(3;0.000094)			5	154					0	0	0.184627	0	0
ZNF592	9640	broad.mit.edu	37	15	85327115	85327115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr15:85327115G>C	ENST00000299927.3	+	1	1231	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	ZNF592_ENST00000560079.2_Missense_Mutation_p.K403N			Q92610	ZN592_HUMAN	zinc finger protein 592	403					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCCAAGTAAGTCCCCTGTTG	0.532000													6	33					0	0	0.278610	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480162	27480162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:27480162C>T	ENST00000233535.4	-	5	989	c.637G>A	c.(637-639)Gag>Aag	p.E213K	SLC30A3_ENST00000447008.2_Missense_Mutation_p.E208K	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	213					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCATACTCTGCTCCCCTA	0.672000													8	17					0	0	0.361761	0	0
IFT57	55081	broad.mit.edu	37	3	107938325	107938325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:107938325C>T	ENST00000264538.3	-	2	554	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	103					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGAGGCTGCTCAAAGGGACGT	0.418000													6	82					0	0	0.248553	0	0
GPR18	2841	broad.mit.edu	37	13	99907960	99907960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr13:99907960G>A	ENST00000340807.3	-	3	723	c.167C>T	c.(166-168)aCg>aTg	p.T56M	GPR18_ENST00000397473.2_Missense_Mutation_p.T56M|GPR18_ENST00000397470.2_Missense_Mutation_p.T56M|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	56						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GATGGTTACCGTGGTTCTCTT	0.348000													28	56					0	0	0.353513	0	0
ELP4	26610	broad.mit.edu	37	11	31805046	31805046	+	Missense_Mutation	SNP	G	G	A	rs3026403		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:31805046G>A	ENST00000350638.5	+	10	1284	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	417					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)					CATGATGGCCGGAGGCAAGAA	0.498000													3	74					0	0	0.115264	0	0
SETBP1	26040	broad.mit.edu	37	18	42529990	42529990	+	Nonsense_Mutation	SNP	G	G	T	rs143196787		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr18:42529990G>T	ENST00000282030.5	+	4	981	c.685G>T	c.(685-687)Gga>Tga	p.G229*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	229						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)		CTCTGACAGCGGACCCGTCAC	0.547000									Schinzel-Giedion syndrome				7	44					0.000157383	0.000162497	0.278610	1	0
KRT79	338785	broad.mit.edu	37	12	53227934	53227934	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:53227934C>T	ENST00000330553.5	-	1	145	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	37	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAGACACCGTCACTGAGC	0.637000													5	53					0	0	0.361761	0	0
CAD	790	broad.mit.edu	37	2	27463149	27463149	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:27463149G>A	ENST00000264705.4	+	35	5675	c.5513G>A	c.(5512-5514)cGc>cAc	p.R1838H	CAD_ENST00000403525.1_Missense_Mutation_p.R1775H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1838	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GAAAGACCCCGCCGTGGCATC	0.567000													15	112					0	0	0.175082	0	0
CCT6A	908	broad.mit.edu	37	7	56124052	56124052	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:56124052G>C	ENST00000275603.4	+	5	778	c.559G>C	c.(559-561)Gat>Cat	p.D187H	CCT6A_ENST00000540286.1_Missense_Mutation_p.D156H|CCT6A_ENST00000335503.3_Missense_Mutation_p.D142H	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	187					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAACCTATTGATCTCTTCAT	0.393000													10	68					0	0	0.335167	0	0
NEMF	9147	broad.mit.edu	37	14	50262630	50262630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:50262630G>C	ENST00000298310.5	-	26	2947	c.2498C>G	c.(2497-2499)tCa>tGa	p.S833*	NEMF_ENST00000545773.1_Nonsense_Mutation_p.S791*|NEMF_ENST00000546046.1_Nonsense_Mutation_p.S812*|NEMF_ENST00000382135.2_Nonsense_Mutation_p.S33*|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	833						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TAAATCTCCTGAGTCACTTGG	0.338000													7	45					0	0	0.278610	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769023	140769023	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:140769023C>T	ENST00000519479.1	+	1	1572	c.1572C>T	c.(1570-1572)cgC>cgT	p.R524R	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCTGCGCGCCTTCGAAC	0.672000													21	39					0	0	0.219247	0	0
SNED1	25992	broad.mit.edu	37	2	241987826	241987826	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:241987826C>T	ENST00000310397.8	+	9	1368	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SNED1_ENST00000342631.6_Silent_p.P456P|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Silent_p.P456P|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Silent_p.P456P	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	456	EGF-like 5.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCGAGTGCCCCGAAGGCTTCA	0.662000													4	9					0	0	0.217242	0	0
IPO5	3843	broad.mit.edu	37	13	98671904	98671904	+	Missense_Mutation	SNP	C	C	T	rs1804741		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr13:98671904C>T	ENST00000261574.5	+	27	3140	c.2960C>T	c.(2959-2961)aCa>aTa	p.T987I	IPO5_ENST00000539640.1_Missense_Mutation_p.T844I|IPO5_ENST00000490680.1_Missense_Mutation_p.T969I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	969					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTCAATGCTACAGAGAACTGC	0.423000													12	43					0	0	0.093190	0	0
CXXC1	30827	broad.mit.edu	37	18	47811188	47811188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr18:47811188C>T	ENST00000285106.6	-	8	1648	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CXXC1_ENST00000589940.1_Missense_Mutation_p.E312K|CXXC1_ENST00000412036.2_Missense_Mutation_p.E312K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	312	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AATGGGGACTCTTCTGTGTCG	0.587000													4	18					0	0	0.184627	0	0
NAV3	89795	broad.mit.edu	37	12	78531084	78531084	+	Silent	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:78531084T>G	ENST00000397909.2	+	19	4742	c.4569T>G	c.(4567-4569)tcT>tcG	p.S1523S	NAV3_ENST00000228327.6_Silent_p.S1523S|NAV3_ENST00000266692.7_Silent_p.S1346S|NAV3_ENST00000536525.2_Silent_p.S1523S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1523	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGCCACTTCTCTGGAGGAAA	0.512000										HNSCC(70;0.22)			8	48					0	0	0.307466	0	0
RPTOR	57521	broad.mit.edu	37	17	78938109	78938109	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:78938109G>A	ENST00000306801.3	+	34	4349	c.3987G>A	c.(3985-3987)tcG>tcA	p.S1329S	RPTOR_ENST00000544334.2_Silent_p.S1171S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1329					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGTGTACTCGGTGGAGAAGC	0.652000													19	36					0	0	0.219247	0	0
ADCYAP1	116	broad.mit.edu	37	18	908272	908272	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr18:908272C>G	ENST00000579794.1	+	3	527	c.249C>G	c.(247-249)gtC>gtG	p.V83V	ADCYAP1_ENST00000450565.3_Silent_p.V83V	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	83					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TTAGAGATGTCGCCCACGGGA	0.677000													3	20					0	0	0.115264	0	0
NAPSA	9476	broad.mit.edu	37	19	50861932	50861932	+	Missense_Mutation	SNP	A	A	T	rs138846093		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:50861932A>T	ENST00000253719.2	-	9	1349	c.1141T>A	c.(1141-1143)Tat>Aat	p.Y381N	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	381					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACGGCCACATACGTCCCCAAG	0.677000													4	13					0	0	0.150653	0	0
MAP9	79884	broad.mit.edu	37	4	156281422	156281422	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:156281422C>A	ENST00000311277.4	-	7	1211	c.948G>T	c.(946-948)aaG>aaT	p.K316N	MAP9_ENST00000515654.1_Missense_Mutation_p.K292N|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000594492.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	316					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CCGCTTTTGCCTTTTCTTCTT	0.378000													9	50					2.74318e-10	2.93839e-10	0.335167	1	0
B3GNT3	10331	broad.mit.edu	37	19	17922878	17922878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:17922878G>A	ENST00000318683.6	+	3	1213	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D356N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	356					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCTCATGTGGGATGCGCTGAA	0.587000													21	45					0	0	0.219247	0	0
CPNE6	9362	broad.mit.edu	37	14	24546188	24546188	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:24546188G>A	ENST00000397016.2	+	15	1577	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	CPNE6_ENST00000537691.1_Silent_p.P477P|CPNE6_ENST00000216775.2_Silent_p.P422P			O95741	CPNE6_HUMAN	copine VI (neuronal)	422	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGGCTGAGCCGGCCCAGCGGG	0.637000													5	24					0	0	0.184627	0	0
PRAME	23532	broad.mit.edu	37	22	22892745	22892745	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr22:22892745A>C	ENST00000543184.1	-	4	1218	c.356T>G	c.(355-357)cTt>cGt	p.L119R	PRAME_ENST00000424204.2_Missense_Mutation_p.L103R|PRAME_ENST00000398743.2_Missense_Mutation_p.L119R|PRAME_ENST00000539862.1_Missense_Mutation_p.L103R|PRAME_ENST00000398741.1_Missense_Mutation_p.L119R|PRAME_ENST00000402697.1_Missense_Mutation_p.L119R|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000405655.3_Missense_Mutation_p.L119R	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	119					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGCACTTGAAGTTTCCACCT	0.438000													8	60					0	0	0.361761	0	0
EIF2S2	8894	broad.mit.edu	37	20	32685311	32685311	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr20:32685311C>A	ENST00000374980.2	-	5	666	c.445G>T	c.(445-447)Gaa>Taa	p.E149*		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	149						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TTGTTGTCTTCATCTTCTAGA	0.413000													5	36					0.0215528	0.0218585	0.217242	1	0
MSH2	4436	broad.mit.edu	37	2	47656948	47656948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:47656948C>T	ENST00000406134.1	+	7	1206	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	MSH2_ENST00000543555.1_Missense_Mutation_p.R316C|MSH2_ENST00000233146.2_Missense_Mutation_p.R382C			P43246	MSH2_HUMAN	mutS homolog 2	382					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATTTACTTCGTCGATTCCC	0.343000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				10	44					0	0	0.080935	0	0
NELFA	7469	broad.mit.edu	37	4	1985365	1985365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:1985365G>A	ENST00000382882.3	-	10	2510	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S	NELFA_ENST00000542778.1_Missense_Mutation_p.P319S|NELFA_ENST00000411638.1_Missense_Mutation_p.P454S	NM_005663.4	NP_005654.3			negative elongation factor complex member A																		GCCTTCTCGGGCCGCGTGACT	0.677000													11	26					0	0	0.105934	0	0
GRIN2A	2903	broad.mit.edu	37	16	9934948	9934948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:9934948C>T	ENST00000396573.2	-	7	1651	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	GRIN2A_ENST00000535259.1_Missense_Mutation_p.E291K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E448K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E448K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	448					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCATCCCCTCATTGGTTGAA	0.408000													14	60					0	0	0.132662	0	0
RAB34	83871	broad.mit.edu	37	17	27045165	27045165	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:27045165G>C	ENST00000447716.1	-	1	121	c.121C>G	c.(121-123)Cga>Gga	p.R41G	RAB34_ENST00000301043.6_5'UTR|RAB34_ENST00000415040.2_5'UTR|RAB34_ENST00000436730.3_5'UTR|RAB34_ENST00000450529.1_5'UTR|RAB34_ENST00000453384.3_Missense_Mutation_p.R41G	NM_001142624.2|NM_001144943.1	NP_001136096.2|NP_001138415.1	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					ATGGGGAATCGGAGACTGCTG	0.632000													5	12					0	0	0.184627	0	0
COG5	10466	broad.mit.edu	37	7	107053006	107053006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:107053006C>T	ENST00000393603.2	-	7	974	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.A235T|COG5_ENST00000297135.3_Missense_Mutation_p.A235T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	235					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAAGTCGGGCTCTTGCAATA	0.328000													18	51					0	0	0.175082	0	0
RFPL2	10739	broad.mit.edu	37	22	32586995	32586995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr22:32586995G>A	ENST00000400236.3	-	5	1836	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	RFPL2_ENST00000248983.4_Missense_Mutation_p.R211C|RFPL2_ENST00000400237.1_Missense_Mutation_p.R301C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.R240C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	301	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTAACTTGCGGTCTACGAAG	0.517000													12	38					0	0	0.119110	0	0
EYA4	2070	broad.mit.edu	37	6	133783571	133783571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:133783571C>A	ENST00000367895.5	+	8	1000	c.536C>A	c.(535-537)aCa>aAa	p.T179K	EYA4_ENST00000531901.1_Missense_Mutation_p.T179K|EYA4_ENST00000355286.6_Missense_Mutation_p.T156K|EYA4_ENST00000525849.1_Missense_Mutation_p.T156K|EYA4_ENST00000355167.3_Missense_Mutation_p.T179K|EYA4_ENST00000452339.2_Missense_Mutation_p.T125K|EYA4_ENST00000431403.2_Missense_Mutation_p.T179K|EYA4_ENST00000430974.2_Missense_Mutation_p.T125K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	179					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCCGTCTACACAGCCTACTCA	0.507000													9	55					0.000274275	0.000281157	0.307466	1	0
C5orf42	65250	broad.mit.edu	37	5	37108457	37108457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:37108457G>A	ENST00000274258.7	-	51	9636	c.6049C>T	c.(6049-6051)Ccc>Tcc	p.P2017S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P3119S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P3119S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3119										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATCGTCCAGGGACTCACCACA	0.423000													6	91					0	0	0.248553	0	0
SNORD113-7	767567	broad.mit.edu	37	14	101407483	101407483	+	RNA	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:101407483G>A	ENST00000363762.1	+	0	21					NR_003235.1																						ATGAGTATGCGTGGGGCATCT	0.363000													18	48					0	0	0.204396	0	0
TMEM260	54916	broad.mit.edu	37	14	57101623	57101623	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:57101623T>G	ENST00000261556.6	+	14	1853	c.1731T>G	c.(1729-1731)gaT>gaG	p.D577E	RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.D111E|RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000538838.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		ACAGGTTTGATCCATCTTCTT	0.393000													20	62					0	0	0.219247	0	0
CENPA	1058	broad.mit.edu	37	2	27015013	27015013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:27015013C>T	ENST00000335756.4	+	2	315	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	CENPA_ENST00000233505.8_Nonsense_Mutation_p.Q39*|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	39					CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCCCATCAACACAGTCG	0.512000													7	16					0	0	0.278610	0	0
MUC1	4582	broad.mit.edu	37	1	155160217	155160217	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:155160217C>T	ENST00000368395.1	-	5	1133	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	MUC1_ENST00000343256.5_Intron|MUC1_ENST00000337604.5_Silent_p.L152L|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000338684.5_Silent_p.L103L|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000457295.2_Silent_p.L143L|MUC1_ENST00000368398.3_Silent_p.L109L|MUC1_ENST00000368392.3_Silent_p.L143L|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000438413.1_Silent_p.L108L|MUC1_ENST00000368390.3_Silent_p.L134L|MUC1_ENST00000368393.3_Silent_p.L152L	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1134	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGAGATCGTCAGGTTATATC	0.552000			T	IGH@	B-NHL								7	23					0	0	0.248553	0	0
INTU	27152	broad.mit.edu	37	4	128628077	128628077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:128628077G>A	ENST00000335251.5	+	12	2327	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	742										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GAAGCAAAGAGAATCTCAGGG	0.473000													22	119					0	0	0.264190	0	0
MARCH6	10299	broad.mit.edu	37	5	10407240	10407240	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:10407240G>A	ENST00000274140.5	+	17	1611	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	MARCH6_ENST00000503788.1_Silent_p.L388L|MARCH6_ENST00000510792.1_Silent_p.L191L|MARCH6_ENST00000449913.2_Silent_p.L445L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	493					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGTCCTCCTGATGCTTTGGC	0.408000													26	293					0	0	0.338820	0	0
ZNF76	7629	broad.mit.edu	37	6	35260716	35260716	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:35260716G>A	ENST00000373953.3	+	11	1490	c.1224G>A	c.(1222-1224)tcG>tcA	p.S408S	ZNF76_ENST00000339411.5_Silent_p.S408S|ZNF76_ENST00000440666.2_Silent_p.S382S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	408					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTACCTTTCGGAGGTGAAGG	0.612000													55	55					0	0	0.323286	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857399	68857399	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr10:68857399A>C	ENST00000361320.4	+	3	2169	c.1591A>C	c.(1591-1593)Agt>Cgt	p.S531R	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	531						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCCACAATAAGTTACTGTGG	0.418000													9	87					0	0	0.093190	0	0
ENTPD7	57089	broad.mit.edu	37	10	101439180	101439180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr10:101439180G>A	ENST00000370489.4	+	4	532	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	118						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCAAACAGATGAGAGACCGCA	0.428000													4	28					0	0	0.150653	0	0
AK5	26289	broad.mit.edu	37	1	77806120	77806120	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:77806120G>C	ENST00000344720.5	+	6	1706	c.680G>C	c.(679-681)aGa>aCa	p.R227T	AK5_ENST00000354567.2_Missense_Mutation_p.R253T	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	253					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTCAAAGAAAGATTACTGAAG	0.458000													11	80					0	0	0.361761	0	0
NRDE2	55051	broad.mit.edu	37	14	90759044	90759044	+	Silent	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:90759044T>C	ENST00000354366.3	-	9	2071	c.1839A>G	c.(1837-1839)agA>agG	p.R613R	NRDE2_ENST00000357904.3_Silent_p.R382R	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TACATGCCTGTCTCTCGGGAT	0.612000													19	98					0	0	0.234183	0	0
WNT16	51384	broad.mit.edu	37	7	120979112	120979112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:120979112G>C	ENST00000222462.2	+	4	1101	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	WNT16_ENST00000361301.2_Missense_Mutation_p.E261Q	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	271					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCGCAGGAGAGAAAAAGATCA	0.368000													6	24					0	0	0.217242	0	0
SYNM	23336	broad.mit.edu	37	15	99672905	99672905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr15:99672905C>T	ENST00000336292.6	+	5	4457	c.4337C>T	c.(4336-4338)aCg>aTg	p.T1446M	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1447	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCAGCAGAACGCTAAGGCAC	0.542000													33	114					0	0	0.193644	0	0
EVC2	132884	broad.mit.edu	37	4	5624705	5624705	+	Missense_Mutation	SNP	C	C	T	rs144420242	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:5624705C>T	ENST00000310917.2	-	14	2551	c.1820G>A	c.(1819-1821)cGt>cAt	p.R607H	EVC2_ENST00000344938.1_Missense_Mutation_p.R687H|EVC2_ENST00000344408.5_Missense_Mutation_p.R687H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	687						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCTCCCTACGCTGCTCCCT	0.592000													10	29					0	0	0.080935	0	0
SEMA5A	9037	broad.mit.edu	37	5	9119159	9119159	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:9119159T>C	ENST00000382496.5	-	15	2541	c.1876A>G	c.(1876-1878)Act>Gct	p.T626A		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	626	TSP type-1 2.				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						TGCCTGGGAGTGGGGTTGCTG	0.667000													9	38					0	0	0.335167	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073640	73073640	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:73073640G>T	ENST00000263674.3	+	14	5207	c.4857G>T	c.(4855-4857)atG>atT	p.M1619I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1619					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTTGGAGATGACGCCGGGCC	0.692000													4	38					0.0215528	0.0218585	0.217242	1	0
SBF1	6305	broad.mit.edu	37	22	50898068	50898068	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr22:50898068C>G	ENST00000380817.2	-	27	3702	c.3519G>C	c.(3517-3519)caG>caC	p.Q1173H	SBF1_ENST00000390679.3_Missense_Mutation_p.Q1173H|SBF1_ENST00000348911.6_Missense_Mutation_p.Q1174H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1173	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGGACACTCTGGGGCACGA	0.701000													3	33					0	0	0.115264	0	0
PHF2	5253	broad.mit.edu	37	9	96435940	96435940	+	Missense_Mutation	SNP	G	G	A	rs145764244	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr9:96435940G>A	ENST00000359246.4	+	18	2789	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	808					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCAGGCCTCCGACTCCTGCCT	0.667000													8	55					0	0	0.080935	0	0
CHD4	1108	broad.mit.edu	37	12	6690555	6690555	+	Splice_Site	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:6690555C>G	ENST00000309577.6	-	31	4929		c.e31-1		CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATCCCATCTTCTGCAGAACAA	0.403000													5	67					0	0	0.307466	0	0
SDK1	221935	broad.mit.edu	37	7	4272924	4272924	+	Silent	SNP	G	G	A	rs144472783		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:4272924G>A	ENST00000404826.2	+	41	6004	c.5865G>A	c.(5863-5865)ccG>ccA	p.P1955P	SDK1_ENST00000389531.3_Silent_p.P1935P|SDK1_ENST00000466611.1_3'UTR	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1955	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGACATCCCGCGGAGCGCCA	0.597000													10	50					0	0	0.335167	0	0
PCDH17	27253	broad.mit.edu	37	13	58208055	58208055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr13:58208055G>T	ENST00000377918.3	+	1	1401	c.1375G>T	c.(1375-1377)Gcg>Tcg	p.A459S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	459	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAAGTCGTTCGCGATCAAGAT	0.607000													3	19					2.56e-06	2.67212e-06	0.150653	1	0
GRID2	2895	broad.mit.edu	37	4	94377124	94377124	+	Splice_Site	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:94377124A>C	ENST00000282020.4	+	11	2115	c.1858_splice	c.e11+1	p.Q619_splice	GRID2_ENST00000510992.1_Splice_Site_p.Q524_splice	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	619					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGTACAACAAGGTAAGGAGC	0.353000													11	50					0	0	0.361761	0	0
TAF9	6880	broad.mit.edu	37	5	68660814	68660814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:68660814C>T	ENST00000328663.4	-	3	1217	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TAF9_ENST00000506736.1_Missense_Mutation_p.D251N|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.D251N|TAF9_ENST00000380818.3_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		tcatcatcatcatcttcaCGT	0.323000													7	49					0	0	0.248553	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85554449	85554449	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:85554449A>C	ENST00000393217.2	+	24	4840	c.4779A>C	c.(4777-4779)aaA>aaC	p.K1593N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1593										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTCTTCCAAAATCACCAAAGA	0.343000													5	58					0	0	0.184627	0	0
C19orf47	126526	broad.mit.edu	37	19	40842076	40842076	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:40842076C>T	ENST00000582783.1	-	4	286	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	C19orf47_ENST00000392035.2_Missense_Mutation_p.V25M	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	92										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			ACCACGGTCACGCCCAGCTCA	0.572000													6	41					0	0	0.217242	0	0
CXXC1	30827	broad.mit.edu	37	18	47811201	47811201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr18:47811201C>T	ENST00000285106.6	-	8	1635	c.921G>A	c.(919-921)atG>atA	p.M307I	CXXC1_ENST00000589940.1_Missense_Mutation_p.M307I|CXXC1_ENST00000412036.2_Missense_Mutation_p.M307I	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	307	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGTGTCGCTCATCCAGGGCT	0.587000													5	17					0	0	0.184627	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260722	42260722	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:42260722C>T	ENST00000199764.6	+	2	497	c.279C>T	c.(277-279)ccC>ccT	p.P93P	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	93	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGGGCCCGCATACAGTG	0.458000													72	103					0	0	0.323286	0	0
MED12L	116931	broad.mit.edu	37	3	151129190	151129190	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:151129190C>G	ENST00000474524.1	+	39	5968	c.5930C>G	c.(5929-5931)tCc>tGc	p.S1977C	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1977	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCGCACATTCCAACCCCGTG	0.582000													13	139					0	0	0.093190	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903736	20903736	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:20903736C>G	ENST00000381552.1	+	14	2294	c.1926C>G	c.(1924-1926)atC>atG	p.I642M	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I524M|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I642M|SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000266509.2_Intron			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	0					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GGTACCAAATCAAAAGCATTC	0.378000													6	43					0	0	0.307466	0	0
LRP5	4041	broad.mit.edu	37	11	68131338	68131338	+	Silent	SNP	G	G	A	rs80358307		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:68131338G>A	ENST00000294304.7	+	4	916	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	270	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGGGAAGAGGAAGGAGA	0.652000													7	63					0	0	0.248553	0	0
UBE3B	89910	broad.mit.edu	37	12	109972546	109972546	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:109972546C>T	ENST00000342494.3	+	28	3761	c.3166C>T	c.(3166-3168)Cgc>Tgc	p.R1056C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R1056C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1056	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGAGAAGCTGCGCTACGCCAT	0.642000													9	51					0	0	0.335167	0	0
NAALADL1	10004	broad.mit.edu	37	11	64825688	64825688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:64825688G>A	ENST00000358658.3	-	2	247	c.220C>T	c.(220-222)Cct>Tct	p.P74S	NAALADL1_ENST00000355369.2_Missense_Mutation_p.P74S|NAALADL1_ENST00000339885.2_Missense_Mutation_p.P74S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P74S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P74S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P74S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	74					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCATCCCGAGGGCTGGAGGCC	0.677000													5	40					0	0	0.248553	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798369	55798369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:55798369C>T	ENST00000313555.1	+	1	475	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATCACTGGTCCATGTGTGCCT	0.438000													66	107					0	0	0.323286	0	0
SLC35A5	55032	broad.mit.edu	37	3	112300018	112300018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:112300018G>C	ENST00000492406.1	+	6	1337	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	352						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTGGTCTTTGACTTCAGGCC	0.453000													12	86					0	0	0.105934	0	0
SH2B1	25970	broad.mit.edu	37	16	28883644	28883644	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:28883644C>T	ENST00000337120.5	+	6	4938	c.1647C>T	c.(1645-1647)caC>caT	p.H549H	SH2B1_ENST00000322610.8_Silent_p.H549H|SH2B1_ENST00000395532.4_Silent_p.H549H|SH2B1_ENST00000359285.5_Silent_p.H549H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Silent_p.H239H|SH2B1_ENST00000538342.1_Silent_p.H213H	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	549	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGGCTCCCACGGTGTCTTCC	0.622000													10	37					0	0	0.335167	0	0
EIF4A3	9775	broad.mit.edu	37	17	78120703	78120703	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:78120703C>G	ENST00000269349.3	-	1	279	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	20					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATGTCTTCCTCTTTGAGCAGC	0.647000													5	38					0	0	0.217242	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530153	80530153	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:80530153C>G	ENST00000295057.3	-	2	1448	c.792G>C	c.(790-792)tcG>tcC	p.S264S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S264S|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	264						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCTCGTTGCCCGACAAGTCCA	0.607000										HNSCC(69;0.2)			8	44					0	0	0.307466	0	0
COPB1	1315	broad.mit.edu	37	11	14490304	14490304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:14490304G>A	ENST00000249923.3	-	16	2368	c.2068C>T	c.(2068-2070)Cag>Tag	p.Q690*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.Q690*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	690					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAACTCAGCTGAAACTGATCT	0.423000													18	149					0	0	0.189662	0	0
CPNE5	57699	broad.mit.edu	37	6	36714277	36714277	+	Missense_Mutation	SNP	C	C	T	rs150078502	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:36714277C>T	ENST00000244751.2	-	16	1720	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	CPNE5_ENST00000393189.2_Missense_Mutation_p.V74I|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	366	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ATCTCTCCGACGGCAGTCAGC	0.622000													4	59					0	0	0.150653	0	0
PSMD1	5707	broad.mit.edu	37	2	231947609	231947609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:231947609G>A	ENST00000308696.6	+	13	1588	c.1426G>A	c.(1426-1428)Ggt>Agt	p.G476S	PSMD1_ENST00000409643.1_Missense_Mutation_p.G476S|PSMD1_ENST00000373635.4_Missense_Mutation_p.G476S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	476					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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CGTTAGACACGGTGGCAGTCT	0.373000													4	28					0	0	0.150653	0	0
TARDBP	23435	broad.mit.edu	37	1	11080498	11080498	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:11080498G>C	ENST00000240185.3	+	5	670	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	TARDBP_ENST00000439080.2_Missense_Mutation_p.E70Q|TARDBP_ENST00000315091.3_Missense_Mutation_p.E186Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	186	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E186K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCCAAGATGAGCCTTTGAG	0.398000													11	74					0	0	0.361761	0	0
KIFC2	90990	broad.mit.edu	37	8	145698053	145698053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr8:145698053C>T	ENST00000301332.2	+	16	2202	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	609	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGACGCTGCGCGCGGCGTC	0.721000													4	27					0	0	0.184627	0	0
GK2	2712	broad.mit.edu	37	4	80327860	80327860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:80327860G>A	ENST00000358842.3	-	1	1512	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	499				R -> C (in Ref. 2; BAF84930).	glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTGGCATAACGAATTTCACTT	0.478000													12	77					0	0	0.132662	0	0
TNFSF14	8740	broad.mit.edu	37	19	6670018	6670018	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:6670018G>A	ENST00000326176.9	-	2	444	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TNFSF14_ENST00000245912.3_Silent_p.F21F|TNFSF14_ENST00000599359.1_Silent_p.F21F	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	21					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGCCTCGTGAATGGGATGT	0.642000													19	80					0	0	0.204396	0	0
ECT2	1894	broad.mit.edu	37	3	172474799	172474799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:172474799G>A	ENST00000417960.1	+	5	711	c.234G>A	c.(232-234)atG>atA	p.M78I	ECT2_ENST00000232458.5_Missense_Mutation_p.M79I|ECT2_ENST00000540509.1_Missense_Mutation_p.M110I|ECT2_ENST00000441497.2_Missense_Mutation_p.M79I|ECT2_ENST00000427830.1_Missense_Mutation_p.M79I|ECT2_ENST00000392692.3_Missense_Mutation_p.M110I	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	79					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGTAAAGATGGAGTCAGTGG	0.333000													74	107					0	0	0.323286	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476268	87476268	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:87476268G>A	ENST00000341119.5	-	8	973	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	209					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCTACCTGAGAAAGGTACAT	0.378000													11	56					0	0	0.361761	0	0
SHROOM2	357	broad.mit.edu	37	X	9863269	9863269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chrX:9863269G>A	ENST00000380913.3	+	4	1411	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	441					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTCTGTGCTGACAGCCTTGG	0.652000													18	16					0	0	0.204396	0	0
SCLY	51540	broad.mit.edu	37	2	239003069	239003069	+	Silent	SNP	C	C	T	rs149428035		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:239003069C>T	ENST00000254663.6	+	10	1180	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	SCLY_ENST00000555827.1_Silent_p.F338F|SCLY_ENST00000429612.2_Silent_p.F132F|SCLY_ENST00000422984.2_Silent_p.F244F	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	338					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		AGGCTGAATTCGGTCAGAAGA	0.448000													5	93					0	0	0.184627	0	0
FOXL1	2300	broad.mit.edu	37	16	86612542	86612542	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:86612542G>A	ENST00000320241.3	+	1	428	c.213G>A	c.(211-213)acG>acA	p.T71T		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	71					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						AGAGGGTCACGCTCAACGGCA	0.642000													27	72					0	0	0.324025	0	0
CHD4	1108	broad.mit.edu	37	12	6688057	6688057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:6688057C>T	ENST00000309577.6	-	33	5183	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K	CHD4_ENST00000357008.2_Missense_Mutation_p.E1646K|CHD4_ENST00000544484.1_Missense_Mutation_p.E1671K|CHD4_ENST00000544040.1_Missense_Mutation_p.E1639K|RP5-940J5.6_ENST00000501075.2_RNA			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1646	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCTGACTTTTCCTCCACCTTC	0.413000													6	24					0	0	0.217242	0	0
MUC4	4585	broad.mit.edu	37	3	195481222	195481222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:195481222C>T	ENST00000463781.3	-	19	15649	c.15190G>A	c.(15190-15192)Ggg>Agg	p.G5064R	MUC4_ENST00000475231.1_Missense_Mutation_p.G5012R|MUC4_ENST00000349607.4_Missense_Mutation_p.G777R|MUC4_ENST00000346145.4_Missense_Mutation_p.G828R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1821					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGGTGCCCCCGTCACACTTG	0.652000													25	44					0	0	0.294199	0	0
CCL2	6347	broad.mit.edu	37	17	32583342	32583342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:32583342C>A	ENST00000225831.4	+	2	243	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	CCL2_ENST00000580907.1_Missense_Mutation_p.P60T	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	60					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	CAGCAAGTGTCCCAAAGAAGC	0.493000													14	30					1.3612e-06	1.42602e-06	0.132662	1	0
MYEOV2	150678	broad.mit.edu	37	2	241066179	241066179	+	Missense_Mutation	SNP	C	C	T	rs140948790		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:241066179C>T	ENST00000307266.3	-	5	559	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTGGTTCTTCCGTAAACTGTT	0.483000													17	117					0	0	0.160694	0	0
RPLP0	6175	broad.mit.edu	37	12	120636693	120636693	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:120636693G>A	ENST00000551150.1	-	4	744	c.429C>T	c.(427-429)atC>atT	p.I143I	RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Silent_p.I143I|RPLP0_ENST00000546989.1_Silent_p.I143I|RPLP0_ENST00000392514.4_Silent_p.I143I|RPLP0_ENST00000228306.4_Silent_p.I143I			P05388	RLA0_HUMAN	ribosomal protein, large, P0	143					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTAGTGGTGATACCTAAAG	0.552000													5	32					0	0	0.184627	0	0
FAM27L	284123	broad.mit.edu	37	17	21825525	21825525	+	RNA	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:21825525G>A	ENST00000426869.3	+	0	229					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		ggcagagtccggggaagcagc	0.637000													12	40					0	0	0.175082	0	0
C6orf165	154313	broad.mit.edu	37	6	88126412	88126412	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:88126412G>A	ENST00000507897.1	+	6	581	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C6ORF165_ENST00000369562.4_Silent_p.Q166Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	166										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTTTTCCTCAGGCAGAGCTTG	0.338000													25	12					0	0	0.294199	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			12	16					0	0	0.080935	0	0
STRN	6801	broad.mit.edu	37	2	37078179	37078179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:37078179C>T	ENST00000263918.4	-	16	2058	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	STRN_ENST00000379213.2_Missense_Mutation_p.E635K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	684					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGCCTGTCTTCATGAGCAGTG	0.328000													14	64					0	0	0.160694	0	0
CNGB1	1258	broad.mit.edu	37	16	58001097	58001097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:58001097C>G	ENST00000564448.1	-	2	154	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.E32Q|CNGB1_ENST00000251102.8_Missense_Mutation_p.E32Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	32	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCCATCTCTGGCTCTGGT	0.637000													10	45					0	0	0.361761	0	0
CTTN	2017	broad.mit.edu	37	11	70281261	70281261	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:70281261G>A	ENST00000301843.8	+	18	1852	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	CTTN_ENST00000346329.3_Missense_Mutation_p.R512Q|CTTN_ENST00000376561.3_Intron|CTTN_ENST00000538675.1_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	549	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GTGGAGCTGCGGCAGTAGGGC	0.597000													11	36					0	0	0.093190	0	0
BRS3	680	broad.mit.edu	37	X	135572633	135572633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chrX:135572633C>T	ENST00000370648.3	+	2	1004	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	259					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CAAAGCCATGCCCGTAAGCAG	0.388000													3	42					0	0	0.115264	0	0
FCN2	2220	broad.mit.edu	37	9	137779204	137779204	+	Silent	SNP	G	G	A	rs150154280	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr9:137779204G>A	ENST00000350339.2	+	7	785	c.771G>A	c.(769-771)tcG>tcA	p.S257S	FCN2_ENST00000291744.6_Silent_p.S295S	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	295	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACTGGAAGTCGGGGAAAGGAT	0.537000													45	16					0	0	0.290176	0	0
TRPM1	4308	broad.mit.edu	37	15	31295039	31295039	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr15:31295039G>A	ENST00000542188.1	-	27	4228	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S	TRPM1_ENST00000397795.2_Silent_p.S1266S|TRPM1_ENST00000256552.6_Silent_p.S1288S|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1266			R -> H (in dbSNP:rs13380059).		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGCCATCAGCGCTATTGATGC	0.488000													13	56					0	0	0.105934	0	0
PZP	5858	broad.mit.edu	37	12	9349219	9349219	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:9349219C>T	ENST00000261336.2	-	9	958	c.930G>A	c.(928-930)acG>acA	p.T310T	PZP_ENST00000381997.2_Silent_p.T179T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCAAAGCCCGTATTTGTAA	0.393000													13	70					0	0	0.146539	0	0
LRRC40	55631	broad.mit.edu	37	1	70618219	70618219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:70618219C>G	ENST00000370952.3	-	12	1415	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	446										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCCTTCAGTTCTACCATCCTG	0.323000													7	35					0	0	0.278610	0	0
KYNU	8942	broad.mit.edu	37	2	143798151	143798151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:143798151G>A	ENST00000264170.4	+	13	1454	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	KYNU_ENST00000409512.1_Missense_Mutation_p.R399Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	399					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GTAGAGGAGCGGGGGTGCCAG	0.408000													9	48					0	0	0.361761	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757747	3757747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:3757747C>T	ENST00000440314.2	-	11	1552	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.R360H|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R360H	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	360					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGCCTTCTCACGCTGTAGACT	0.622000													5	36					0	0	0.278610	0	0
ISM2	145501	broad.mit.edu	37	14	77942421	77942421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:77942421C>G	ENST00000393684.3	-	8	1360	c.969G>C	c.(967-969)aaG>aaC	p.K323N	ISM2_ENST00000429906.1_Missense_Mutation_p.K330N|ISM2_ENST00000342219.4_Missense_Mutation_p.K411N|ISM2_ENST00000412904.1_Missense_Mutation_p.K330N|ISM2_ENST00000493585.1_3'UTR			Q6H9L7	ISM2_HUMAN	isthmin 2	411						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGAAGTCGCTCTTGCAGTTCA	0.612000													9	46					0	0	0.335167	0	0
NID1	4811	broad.mit.edu	37	1	236189239	236189239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:236189239C>A	ENST00000264187.6	-	8	2023	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	NID1_ENST00000366595.3_Missense_Mutation_p.K647N	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	647	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGCGCAAGATCTTCTCCTCCT	0.577000													39	174					5.59293e-11	6.03614e-11	0.246493	1	0
CCDC68	80323	broad.mit.edu	37	18	52571634	52571634	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr18:52571634G>A	ENST00000591504.1	-	12	1237	c.963C>T	c.(961-963)acC>acT	p.T321T	CCDC68_ENST00000337363.4_Silent_p.T321T|CCDC68_ENST00000432185.1_Silent_p.T321T	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	321										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AAACACCTTCGGTCTTCAATT	0.368000													7	23					0	0	0.248553	0	0
LRP2	4036	broad.mit.edu	37	2	170101321	170101321	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:170101321G>A	ENST00000263816.3	-	22	3597	c.3312C>T	c.(3310-3312)caC>caT	p.H1104H	LRP2_ENST00000443831.1_Silent_p.H967H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1104					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGCAGGTGCGTGGGTGGGGC	0.537000													16	97					0	0	0.146539	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42861456	42861456	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr21:42861456G>A	ENST00000398585.3	-	4	474	c.414C>T	c.(412-414)gcC>gcT	p.A138A	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000332149.5_Silent_p.A101A|TMPRSS2_ENST00000458356.1_Silent_p.A101A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	101	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTAGGCCAGCGGCCAGCGCAG	0.592000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								14	30					0	0	0.146539	0	0
TTN	7273	broad.mit.edu	37	2	179403830	179403830	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:179403830C>G	ENST00000589042.1	-	353	99056	c.98832G>C	c.(98830-98832)tgG>tgC	p.W32944C	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W31303C|TTN_ENST00000359218.5_Missense_Mutation_p.W24004C|TTN_ENST00000342992.6_Missense_Mutation_p.W30376C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W24071C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W23879C|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31303							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)			TGTGTCTGACCCACTTGTCAG	0.498000													9	57					0	0	0.335167	0	0
MED12L	116931	broad.mit.edu	37	3	150908657	150908657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:150908657G>A	ENST00000474524.1	+	13	1945	c.1907G>A	c.(1906-1908)cGg>cAg	p.R636Q	MED12L_ENST00000422248.2_Missense_Mutation_p.R636Q|MED12L_ENST00000273432.4_Missense_Mutation_p.R496Q|MED12L_ENST00000309237.4_Missense_Mutation_p.R636Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	636					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTCGGCCGCGGTCACCAGTA	0.502000													7	62					0	0	0.335167	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232347	12232347	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:12232347C>G	ENST00000266434.4	+	2	303	c.108C>G	c.(106-108)ttC>ttG	p.F36L	BCL2L14_ENST00000589718.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000586576.1_Missense_Mutation_p.F69L|BCL2L14_ENST00000308721.5_Missense_Mutation_p.F36L|BCL2L14_ENST00000396367.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000396369.1_Missense_Mutation_p.F36L	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	36					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ATCATGTCTTCAAGAGCACCC	0.493000													13	38					0	0	0.093190	0	0
ZNF292	23036	broad.mit.edu	37	6	87966228	87966228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:87966228G>A	ENST00000369577.3	+	8	2924	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	ZNF292_ENST00000339907.4_Missense_Mutation_p.G956S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	961					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTGTGGAAGGCAGTGGTGA	0.428000													18	47					0	0	0.175082	0	0
MED16	10025	broad.mit.edu	37	19	875395	875395	+	Silent	SNP	C	C	T	rs61755331	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:875395C>T	ENST00000312090.6	-	10	1770	c.1620G>A	c.(1618-1620)acG>acA	p.T540T	MED16_ENST00000589119.1_Silent_p.T540T|MED16_ENST00000325464.1_Silent_p.T540T|MED16_ENST00000269814.4_Silent_p.T540T|MED16_ENST00000395808.3_Silent_p.T540T|MED16_ENST00000606828.1_Intron			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	540					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGGTCACCGTGCAGGGCG	0.647000													8	31					0	0	0.335167	0	0
SYCE2	256126	broad.mit.edu	37	19	13029104	13029104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:13029104C>A	ENST00000293695.7	-	2	81	c.63G>T	c.(61-63)ttG>ttT	p.L21F		NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	21					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGCTCTCCCCCAAGGGCTGCG	0.602000													13	41					1.05317e-09	1.11973e-09	0.119110	1	0
INTU	27152	broad.mit.edu	37	4	128627931	128627931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:128627931G>A	ENST00000335251.5	+	12	2181	c.2078G>A	c.(2077-2079)aGa>aAa	p.R693K		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	693										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CCAACATGCAGAAGAACGCTT	0.438000													18	85					0	0	0.175082	0	0
DNAH7	56171	broad.mit.edu	37	2	196891589	196891589	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:196891589C>G	ENST00000312428.6	-	7	662	c.562G>C	c.(562-564)Gta>Cta	p.V188L	DNAH7_ENST00000410072.1_Missense_Mutation_p.V188L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	188	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCCAGTACGTGTTCTAGC	0.353000													3	42					0	0	0.115264	0	0
TARS	6897	broad.mit.edu	37	5	33448677	33448677	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:33448677C>T	ENST00000265112.3	+	3	480	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_Intron|TARS_ENST00000455217.2_Missense_Mutation_p.R57C|TARS_ENST00000502553.1_Missense_Mutation_p.R57C	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	57					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TATTTACACACGTCTTGAGAT	0.343000													8	85					0	0	0.335167	0	0
WFDC1	58189	broad.mit.edu	37	16	84353096	84353096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:84353096G>A	ENST00000219454.5	+	4	807	c.481G>A	c.(481-483)Gag>Aag	p.E161K	WFDC1_ENST00000568638.1_Missense_Mutation_p.E161K			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	161					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCGGGCTATGAGTGCCACAT	0.667000													13	36					0	0	0.119110	0	0
INTS4	92105	broad.mit.edu	37	11	77590009	77590009	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:77590009G>C	ENST00000534064.1	-	23	2912	c.2878C>G	c.(2878-2880)Cct>Gct	p.P960A	AAMDC_ENST00000304716.8_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.P335A|AAMDC_ENST00000527134.1_Intron|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	960					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCCGTGCAGGTTTGGGCATT	0.527000													8	76					0	0	0.307466	0	0
AMZ1	155185	broad.mit.edu	37	7	2752042	2752042	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:2752042A>C	ENST00000312371.4	+	7	1395	c.1027A>C	c.(1027-1029)Acc>Ccc	p.T343P	AMZ1_ENST00000407112.1_Missense_Mutation_p.H286P|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	343							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTGGGAGGACACCCCGCCTGC	0.672000													3	8					0	0	0.248553	0	0
NFATC3	4775	broad.mit.edu	37	16	68200760	68200760	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:68200760G>C	ENST00000349223.5	+	5	1840	c.1616G>C	c.(1615-1617)gGt>gCt	p.G539A	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.G539A|NFATC3_ENST00000329524.4_Missense_Mutation_p.G539A|NFATC3_ENST00000575270.1_Missense_Mutation_p.G539A	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	539	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GATTGTGCAGGTATTTTGAAA	0.299000													7	19					0	0	0.278610	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44303969	44303969	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:44303969G>A	ENST00000262915.3	+	6	672	c.495G>A	c.(493-495)acG>acA	p.T165T	ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000372377.4_Silent_p.T96T|ST3GAL3_ENST00000347631.2_Silent_p.T111T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372362.2_Silent_p.T96T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000361392.4_Silent_p.T96T|ST3GAL3_ENST00000545417.1_Silent_p.T111T|ST3GAL3_ENST00000372369.1_Silent_p.T96T|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000372375.2_Silent_p.T150T	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	96					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542000													28	170					0	0	0.353513	0	0
MSLN	10232	broad.mit.edu	37	16	818647	818647	+	Splice_Site	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:818647G>T	ENST00000566549.1	+	17	2200		c.e17-1		MSLN_ENST00000563941.1_Splice_Site|MSLN_ENST00000382862.3_Splice_Site|MSLN_ENST00000545450.2_Splice_Site			Q13421	MSLN_HUMAN	mesothelin						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCTCTCTGTAGAGGCCCTCTC	0.697000													12	52					4.3838e-07	4.60944e-07	0.105934	1	0
NACAP1	83955	broad.mit.edu	37	8	102381483	102381483	+	RNA	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr8:102381483C>T	ENST00000419462.1	+	0	895					NR_002182.1																						GAGCCCGCTTCGGATACCTAC	0.438000													16	84					0	0	0.146539	0	0
RABL3	285282	broad.mit.edu	37	3	120424914	120424914	+	Missense_Mutation	SNP	A	A	C	rs151038439		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:120424914A>C	ENST00000273375.3	-	4	345	c.316T>G	c.(316-318)Ttg>Gtg	p.L106V	RABL3_ENST00000483733.1_Missense_Mutation_p.L106V|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	106	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CAACGACGCAAGTTTTGGGAG	0.383000													10	39					0	0	0.361761	0	0
DSCAM	1826	broad.mit.edu	37	21	41416162	41416162	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr21:41416162C>T	ENST00000400454.1	-	31	5703	c.5226G>A	c.(5224-5226)gcG>gcA	p.A1742A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1742					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.A1742A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCGGTTTCTCGCTGTGGGCC	0.602000													8	24					0	0	0.278610	0	0
SRRM1	10250	broad.mit.edu	37	1	24978971	24978971	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:24978971G>C	ENST00000323848.9	+	7	1087	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	SRRM1_ENST00000447431.2_Missense_Mutation_p.E258Q|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.E127Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.E258Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	258	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGAGCCTAAAGAACCTTCTCC	0.443000													3	25					0	0	0.115264	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499521	34499521	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:34499521C>T	ENST00000538621.1	+	9	1427	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	PACSIN1_ENST00000374043.2_Silent_p.Y352Y|PACSIN1_ENST00000244458.2_Silent_p.Y394Y	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	394	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGGCACTCTACGACTATGACG	0.647000													30	135					0	0	0.353513	0	0
SFTPC	6440	broad.mit.edu	37	8	22019379	22019379	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr8:22019379C>T	ENST00000521315.1	+	1	70	c.38C>T	c.(37-39)cCg>cTg	p.P13L	SFTPC_ENST00000318561.3_Missense_Mutation_p.P13L|SFTPC_ENST00000524255.1_Missense_Mutation_p.P13L|SFTPC_ENST00000522109.1_Missense_Mutation_p.P13L|SFTPC_ENST00000520605.1_Missense_Mutation_p.P13L|SFTPC_ENST00000437090.2_Missense_Mutation_p.P13L			P11686	PSPC_HUMAN	surfactant protein C	13					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ATGGAGAGCCCGCCGgtgagt	0.572000													13	53					0	0	0.093190	0	0
MBD3	53615	broad.mit.edu	37	19	1581180	1581180	+	Silent	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:1581180G>C	ENST00000590550.2	-	4	793	c.420C>G	c.(418-420)ctC>ctG	p.L140L	MBD3_ENST00000592012.1_Silent_p.L164L|MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000156825.1_Silent_p.L196L|MBD3_ENST00000434436.3_Silent_p.L196L			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	196					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGGCCGAGAGCTGTCCCG	0.652000													5	14					0	0	0.217242	0	0
MDN1	23195	broad.mit.edu	37	6	90372597	90372597	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:90372597C>T	ENST00000369393.3	-	86	14441	c.14326G>A	c.(14326-14328)Gag>Aag	p.E4776K	MDN1_ENST00000428876.1_Missense_Mutation_p.E4776K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4776					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAAGCCTCTCATCTAGTTTG	0.443000													22	78					0	0	0.279207	0	0
PEX1	5189	broad.mit.edu	37	7	92136441	92136441	+	Splice_Site	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:92136441C>T	ENST00000248633.4	-	10	1766		c.e10-1		PEX1_ENST00000541751.1_Splice_Site|PEX1_ENST00000438045.1_Splice_Site|PEX1_ENST00000428214.1_Splice_Site	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCACTCCTCTGTAAAAAAT	0.403000													4	21					0	0	0.150653	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103166	21103166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:21103166C>T	ENST00000312239.5	-	4	413	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HP1BP3_ENST00000375000.1_Missense_Mutation_p.E92K|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	92					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGCTCTGCCTCACTCGAAGTA	0.423000													21	102					0	0	0.219247	0	0
HAPLN4	404037	broad.mit.edu	37	19	19372352	19372352	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:19372352G>A	ENST00000291481.7	-	2	87	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	8					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CGCCGGGACCGAGGGCCGCCC	0.766000													4	10					0	0	0.150653	0	0
PINK1	65018	broad.mit.edu	37	1	20975048	20975048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:20975048G>A	ENST00000321556.4	+	6	1268	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	392	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGGCTGATGAGAGCATCGG	0.612000													3	29					0	0	0.115264	0	0
C7orf31	136895	broad.mit.edu	37	7	25175685	25175685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:25175685G>A	ENST00000409280.1	-	10	1987	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S560L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	560										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTCTAGAATTGATTTATGGAA	0.403000													16	83					0	0	0.160694	0	0
ZNF653	115950	broad.mit.edu	37	19	11598248	11598248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:11598248C>T	ENST00000293771.5	-	4	1166	c.1030G>A	c.(1030-1032)Ggt>Agt	p.G344S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G344C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCGGGGACACCGCTGCCTGCT	0.657000													26	24					0	0	0.338820	0	0
VKORC1	79001	broad.mit.edu	37	16	31105715	31105715	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:31105715G>T	ENST00000394971.3	-	1	155	c.108C>A	c.(106-108)ttC>ttA	p.F36L	VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000394975.2_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000300851.6_Intron			Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	0					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CTCTTATTTCGAACACCAGTA	0.602000													4	54					0.00024832	0.000255466	0.150653	1	0
MAP3K13	9175	broad.mit.edu	37	3	185198087	185198087	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:185198087G>C	ENST00000265026.3	+	13	2903	c.2569G>C	c.(2569-2571)Gat>Cat	p.D857H	TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D650H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D713H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D857H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D713H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	857					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCTGTGTCTGATGGAGAAGA	0.473000													16	141					0	0	0.132662	0	0
PCID2	55795	broad.mit.edu	37	13	113832567	113832567	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr13:113832567T>A	ENST00000375457.2	-	14	1735	c.1139A>T	c.(1138-1140)cAg>cTg	p.Q380L	PCID2_ENST00000351317.3_Missense_Mutation_p.Q359L|PCID2_ENST00000246505.5_Missense_Mutation_p.Q436L|PCID2_ENST00000375479.2_Missense_Mutation_p.Q382L|PCID2_ENST00000375477.1_Missense_Mutation_p.Q382L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375459.1_Missense_Mutation_p.Q380L|PCID2_ENST00000337344.4_Missense_Mutation_p.Q382L	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	382	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CACCAGCTTCTGATGCTGATG	0.522000													25	26					0	0	0.309145	0	0
NUCB1	4924	broad.mit.edu	37	19	49422529	49422529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:49422529G>A	ENST00000405315.4	+	10	1322	c.988G>A	c.(988-990)Ggg>Agg	p.G330R	NUCB1_ENST00000263273.5_Missense_Mutation_p.G330R|NUCB1_ENST00000407032.1_Missense_Mutation_p.G330R|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	330						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGGGGACACCGGGGAGGGCTG	0.577000													6	37					0	0	0.278610	0	0
SLC1A3	6507	broad.mit.edu	37	5	36686248	36686248	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:36686248G>A	ENST00000265113.4	+	10	1982	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	SLC1A3_ENST00000381918.3_Silent_p.L457L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	502					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GACATGAACTGAAGAACAGAG	0.498000													20	198					0	0	0.249174	0	0
OR2H2	7932	broad.mit.edu	37	6	29556072	29556072	+	Silent	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:29556072T>C	ENST00000383640.2	+	1	390	c.351T>C	c.(349-351)gcT>gcC	p.A117A	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	117					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGTGATGGCTTTTGATCGCT	0.587000													3	86					0	0	0.184627	0	0
FAM194A	131831	broad.mit.edu	37	3	150377925	150377925	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:150377925C>T	ENST00000295910.6	-	14	1798	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	FAM194A_ENST00000491361.1_Silent_p.E436E	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	582										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGATTGGAATCTCCTCAGGGT	0.463000													10	129					0	0	0.361761	0	0
NEDD1	121441	broad.mit.edu	37	12	97328772	97328772	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:97328772T>C	ENST00000266742.4	+	7	847	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000411739.2_Missense_Mutation_p.Y81H|NEDD1_ENST00000457368.2_Missense_Mutation_p.Y81H|NEDD1_ENST00000429527.2_Missense_Mutation_p.Y170H|NEDD1_ENST00000557644.1_Missense_Mutation_p.Y177H	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	170				Y -> C (in Ref. 1; BAC04099).	cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GCACTTGAAGTACTCCTTGTT	0.328000													13	75					0	0	0.093190	0	0
NDUFA7	4701	broad.mit.edu	37	19	8381382	8381382	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:8381382C>G	ENST00000301457.2	-	3	286	c.249G>C	c.(247-249)gaG>gaC	p.E83D	NDUFA7_ENST00000598884.1_Missense_Mutation_p.E83D	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	83					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	ATCCTCACCTCTCTGCTGGCT	0.587000													15	82					0	0	0.132662	0	0
TTC1	7265	broad.mit.edu	37	5	159437549	159437549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:159437549C>T	ENST00000231238.5	+	2	124	c.14C>T	c.(13-15)tCa>tTa	p.S5L	TTC1_ENST00000522793.1_Missense_Mutation_p.S5L	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	5					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GGGGAGAAGTCAGAGAACTGT	0.463000													7	44					0	0	0.335167	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77325197	77325197	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:77325197A>C	ENST00000282849.5	-	21	3786	c.3368T>G	c.(3367-3369)aTg>aGg	p.M1123R		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1123	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCAGCTACCATGTTGTACAC	0.502000													16	86					0	0	0.160694	0	0
VWF	7450	broad.mit.edu	37	12	6135131	6135131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:6135131C>T	ENST00000261405.5	-	23	3303	c.3049G>A	c.(3049-3051)Gac>Aac	p.D1017N		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1017	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCACAGGGTCTTCCTCCACT	0.527000													13	63					0	0	0.093190	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167508	140167508	+	Missense_Mutation	SNP	G	G	A	rs148820533		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:140167508G>A	ENST00000458420.3	+	6	1125	c.935G>A	c.(934-936)cGg>cAg	p.R312Q		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	312					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTTGTGACCGGGAGACCTAC	0.443000										HNSCC(16;0.037)			22	236					0	0	0.219247	0	0
ZNF667	63934	broad.mit.edu	37	19	56953259	56953259	+	Silent	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:56953259G>T	ENST00000504904.3	-	7	1824	c.1105C>A	c.(1105-1107)Cgg>Agg	p.R369R	ZNF667_ENST00000292069.6_Silent_p.R369R|ZNF667_ENST00000342634.3_Silent_p.R497R|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTGAAAGCCGCCTGAAGAAC	0.378000													24	24					7.92952e-12	8.59032e-12	0.294199	1	0
MYL7	58498	broad.mit.edu	37	7	44179945	44179945	+	Missense_Mutation	SNP	G	G	A	rs142668114		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr7:44179945G>A	ENST00000458240.1	-	3	482	c.194C>T	c.(193-195)aCg>aTg	p.T65M	MYL7_ENST00000223364.3_Missense_Mutation_p.T92M|MYL7_ENST00000434895.1_5'UTR			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	92	EF-hand 1.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						CCCAAAGAGCGTGAGGAAGAC	0.642000													10	71					0	0	0.080935	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													8	5					0	0	0.335167	0	0
LSM4	25804	broad.mit.edu	37	19	18420497	18420497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:18420497C>T	ENST00000593829.1	-	4	572	c.319G>A	c.(319-321)Gct>Act	p.A107T	LSM4_ENST00000252816.5_Missense_Mutation_p.A93T	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	107					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(3)	6						CCTCGGCCAGCGCCGCCCATG	0.682000													9	40					0	0	0.307466	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530267	80530267	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:80530267G>A	ENST00000295057.3	-	2	1334	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.F226F|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	226						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAAGTGGGCGAAGTTCACCT	0.582000										HNSCC(69;0.2)			17	87					0	0	0.204396	0	0
CCDC155	147872	broad.mit.edu	37	19	49910549	49910549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr19:49910549C>T	ENST00000447857.3	+	11	1134	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	310						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACCATCCTCTCTGAGGTAAGG	0.572000													3	21					0	0	0.150653	0	0
ASXL3	80816	broad.mit.edu	37	18	31325516	31325516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr18:31325516C>G	ENST00000269197.5	+	12	5704	c.5704C>G	c.(5704-5706)Ccc>Gcc	p.P1902A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCGGCTGCTCCCCTCGTGTAG	0.498000													6	93					0	0	0.217242	0	0
DTX3L	151636	broad.mit.edu	37	3	122287708	122287708	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:122287708G>C	ENST00000296161.4	+	3	961	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	258					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CAACTCAATAGAGAAAAGATT	0.373000													3	33					0	0	0.115264	0	0
GPR133	283383	broad.mit.edu	37	12	131498863	131498863	+	Missense_Mutation	SNP	C	C	T	rs149266247	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:131498863C>T	ENST00000261654.5	+	13	2010	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	GPR133_ENST00000376682.4_Missense_Mutation_p.T170M|GPR133_ENST00000535015.1_Missense_Mutation_p.T516M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCACTCATTACGGTCCACCTC	0.587000													10	47					0	0	0.361761	0	0
ADARB1	104	broad.mit.edu	37	21	46596022	46596022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr21:46596022G>A	ENST00000539173.1	+	4	841	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Missense_Mutation_p.E136K|ADARB1_ENST00000348831.4_Missense_Mutation_p.E136K|ADARB1_ENST00000389863.4_Missense_Mutation_p.E136K	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	136	DRBM 1.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCATGCTGCTGAGAAGGCCTT	0.542000													9	43					0	0	0.307466	0	0
NEK9	91754	broad.mit.edu	37	14	75567725	75567725	+	Missense_Mutation	SNP	C	C	T	rs151072111		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:75567725C>T	ENST00000238616.5	-	16	2130	c.1972G>A	c.(1972-1974)Ggt>Agt	p.G658S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	658					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AACTCATCACCGCAGGAGACC	0.517000													21	33					0	0	0.249174	0	0
TTN	7273	broad.mit.edu	37	2	179424911	179424911	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:179424911A>G	ENST00000589042.1	-	326	86172	c.85948T>C	c.(85948-85950)Ttc>Ctc	p.F28650L	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F27009L|TTN_ENST00000359218.5_Missense_Mutation_p.F19710L|TTN_ENST00000342992.6_Missense_Mutation_p.F26082L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F19777L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F19585L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27009	Fibronectin type-III 108.						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)			GATGGTAGGAACACTGGATCT	0.463000													17	65					0	0	0.204396	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769043	140769043	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr5:140769043A>T	ENST00000519479.1	+	1	1592	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACACTGCAGGCCCGCGAC	0.677000													18	31					0	0	0.160694	0	0
ZNF232	7775	broad.mit.edu	37	17	5009153	5009153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:5009153C>T	ENST00000250076.3	-	5	1955	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	ZNF232_ENST00000575898.1_Missense_Mutation_p.R425Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	407					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATGAACTCTCCGATGTCTAAT	0.433000													16	67					0	0	0.189662	0	0
C4orf6	10141	broad.mit.edu	37	4	5528029	5528029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:5528029G>A	ENST00000195455.2	+	2	428	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	85					nervous system development					large_intestine(1)|prostate(1)	2						GACTGTCTCCGGTGCTCACTC	0.438000													6	40					0	0	0.217242	0	0
PITRM1	10531	broad.mit.edu	37	10	3189404	3189404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr10:3189404G>C	ENST00000380989.2	-	20	2315	c.2277C>G	c.(2275-2277)atC>atG	p.I759M	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.I660M|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.I316M|PITRM1_ENST00000224949.4_Missense_Mutation_p.I758M|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	660					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGATGGGTTTGATATCTGTCA	0.438000													8	49					0	0	0.361761	0	0
CSN3	1448	broad.mit.edu	37	4	71114847	71114847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr4:71114847C>G	ENST00000304954.3	+	4	306	c.220C>G	c.(220-222)Cca>Gca	p.P74A		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	74						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATTAATAATCCATATGTGCC	0.433000													8	56					0	0	0.278610	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120247	64120247	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr11:64120247G>A	ENST00000356786.5	+	20	3432	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	CCDC88B_ENST00000359902.2_Missense_Mutation_p.V282M|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1130					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGGGCCAGCGTGGAGGCACA	0.657000													4	63					0	0	0.150653	0	0
TPI1	7167	broad.mit.edu	37	12	6979473	6979473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:6979473G>A	ENST00000229270.4	+	7	1124	c.787G>A	c.(787-789)Gat>Aat	p.D263N	TPI1_ENST00000535434.1_Missense_Mutation_p.D144N|TPI1_ENST00000488464.2_Missense_Mutation_p.D144N|TPI1_ENST00000396705.5_Missense_Mutation_p.D226N	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	226					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAGCCAGCCTGATGTGGATGG	0.572000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	0.307466	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204408140	204408140	+	Missense_Mutation	SNP	C	C	T	rs75201325		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:204408140C>T	ENST00000367187.3	-	24	3995	c.3439G>A	c.(3439-3441)Gtg>Atg	p.V1147M	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.V1119M	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1147	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGCCGGTCACCCCATGCTCC	0.592000													9	19					0	0	0.361761	0	0
GSS	2937	broad.mit.edu	37	20	33529522	33529522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr20:33529522G>A	ENST00000216951.2	-	6	700	c.602C>T	c.(601-603)tCa>tTa	p.S201L	GSS_ENST00000541098.1_Missense_Mutation_p.S73L|GSS_ENST00000451957.2_Intron	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	201					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTACTTGGGTGAGCCGTAGAG	0.483000													11	63					0	0	0.361761	0	0
TAB1	10454	broad.mit.edu	37	22	39826084	39826084	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr22:39826084G>A	ENST00000216160.6	+	11	1434	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	458					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTCCAGCTCTGACGGAGGCCT	0.627000													7	86					0	0	0.080935	0	0
VEZT	55591	broad.mit.edu	37	12	95694420	95694420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:95694420G>C	ENST00000436874.1	+	12	2416	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q	VEZT_ENST00000261219.6_Missense_Mutation_p.E723Q|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	771						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AATAATAGAAGAAAATAAAAA	0.383000													4	23					0	0	0.150653	0	0
RIF1	55183	broad.mit.edu	37	2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:152293769C>T	ENST00000243326.4	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000428287.2_Missense_Mutation_p.P463S|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	463					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)		ATTGGAACATCCGTTAATCAG	0.338000													11	52					0	0	0.105934	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175266	156175266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr3:156175266G>A	ENST00000302490.8	+	4	1199	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.A128T|KCNAB1_ENST00000471742.1_Missense_Mutation_p.A117T|KCNAB1_ENST00000389634.5_Missense_Mutation_p.A110T|KCNAB1_ENST00000389636.5_Missense_Mutation_p.A128T	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	128						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGACCATCGCCTATGAAAG	0.473000													17	152					0	0	0.219247	0	0
COMMD7	149951	broad.mit.edu	37	20	31291246	31291246	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr20:31291246G>C	ENST00000446419.1	-	9	1154	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	COMMD7_ENST00000278980.6_Missense_Mutation_p.Q181E	NM_001099339.1	NP_001092809.1	Q86VX2	COMD7_HUMAN	COMM domain containing 7	181	COMM.				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)|endometrium(1)|lung(3)	5						CTGTAGAACTGAGGCAAGGTT	0.478000													7	46					0	0	0.278610	0	0
SCML2	10389	broad.mit.edu	37	X	18283829	18283829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chrX:18283829A>G	ENST00000251900.4	-	8	983	c.824T>C	c.(823-825)tTa>tCa	p.L275S	SCML2_ENST00000398048.3_Missense_Mutation_p.L11S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	275					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGTGTTGGTAATATTAGAGT	0.418000													13	27					0	0	0.093190	0	0
COL2A1	1280	broad.mit.edu	37	12	48367873	48367873	+	Splice_Site	SNP	G	G	A	rs121912886		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:48367873G>A	ENST00000380518.3	-	53	4480	c.4317_splice	c.e53+1	p.T1439_splice	COL2A1_ENST00000337299.6_Splice_Site_p.T1370_splice|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1439	Fibrillar collagen NC1.		T -> M (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCACTCACCGTGCAGCCATC	0.617000													7	52					0	0	0.278610	0	0
HID1	283987	broad.mit.edu	37	17	72959983	72959983	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:72959983C>A	ENST00000425042.2	-	3	316	c.239G>T	c.(238-240)gGa>gTa	p.G80V	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1			HID1 domain containing																		ACTCTCAGCTCCCTGCACCAG	0.652000													12	32					1.15919e-05	1.20555e-05	0.204396	1	0
TARBP1	6894	broad.mit.edu	37	1	234565343	234565358	+	Frame_Shift_Del	DEL	GAGAGGCACACCCATT	GAGAGGCACACCCATT	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:234565343_234565358delGAGAGGCACACCCATT	ENST00000040877.1	-	16	2674_2689	c.2675_2690delAATGGGTGTGCCTCTC	c.(2674-2691)ctfs	p.QWVCLS892fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	892					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.W893*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAACAGGAAAGAGAGGCACACCCATTGATCATGAAT	0.398													7	73	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)gccfs	p.A135fs	FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683													8	118	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													7	155	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:170871038_170871040delCAA	ENST00000392092.2	+	3	493_495	c.214_216delCAA	c.(214-216)del	p.Q95del	TBP_ENST00000540980.1_In_Frame_Del_p.Q75del|TBP_ENST00000230354.6_In_Frame_Del_p.Q95del	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567													12	22	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:5401259delG	ENST00000399537.4	-	14	4975	c.4627delC	c.(4627-4629)gcfs	p.R1543fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.R1543fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													5	5	---	---	---	---					
LOC399815	399815	broad.mit.edu	37	10	124654324	124654325	+	RNA	INS	-	-	GTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	rs144762615	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	ENST00000425266.1	+	0	291																											TCTCCCTTCTTGTTACTAGTTT	0.386													3	3	---	---	---	---					
PRICKLE1	144165	broad.mit.edu	37	12	42853994	42854008	+	In_Frame_Del	DEL	TGTACAGCCGCAGTC	TGTACAGCCGCAGTC	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:42853994_42854008delTGTACAGCCGCAGTC	ENST00000455697.1	-	8	2384_2398	c.2099_2113delGACTGCGGCTGTACA	c.(2098-2115)acc>a	p.RLRLYT700del	PRICKLE1_ENST00000548696.1_In_Frame_Del_p.RLRLYT700del|PRICKLE1_ENST00000445766.2_In_Frame_Del_p.RLRLYT700del|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_In_Frame_Del_p.RLRLYT700del|PRICKLE1_ENST00000552240.1_In_Frame_Del_p.RLRLYT700del	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	700					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTATCGGGGGTGTACAGCCGCAGTCTGTCCTTGGG	0.502													9	88	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR|ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													4	5	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70952161	70952162	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:70952161_70952162insT	ENST00000393567.2	-	47	8106_8107	c.7956_7957insA	c.(7954-7959)aaaaatfs	p.N2653fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2653										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTCCATTTCTTTTTTTTCAT	0.450													2	4	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)del	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													4	9	---	---	---	---					
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													7	79	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234565343	234565358	+	Frame_Shift_Del	DEL	GAGAGGCACACCCATT	GAGAGGCACACCCATT	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr1:234565343_234565358delGAGAGGCACACCCATT	ENST00000040877.1	-	16	2674_2689	c.2675_2690delAATGGGTGTGCCTCTC	c.(2674-2691)ctfs	p.QWVCLS892fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	892					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.W893*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAACAGGAAAGAGAGGCACACCCATTGATCATGAAT	0.398													7	73	---	---	---	---					
GCSHP3	100329109	broad.mit.edu	37	2	206981155	206981155	+	RNA	DEL	C	C	-	rs71410864		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:206981155delC	ENST00000453039.1	+	0	885					NR_033248.1																						AGGCAGGGCGCGGCAGGTGCC	0.627													5	2	---	---	---	---					
LOC728323	728323	broad.mit.edu	37	2	243036991	243036992	+	RNA	DEL	TT	TT	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr2:243036991_243036992delTT	ENST00000456398.1	+	0	169																											GAAAAGAAACTTTTATGAATTA	0.287													4	3	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508369	71508370	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr6:71508369_71508370insA	ENST00000370455.3	+	6	753_754	c.505_506insA	c.(505-507)aaafs	p.K169fs	SMAP1_ENST00000370452.3_Frame_Shift_Ins_p.K142fs|SMAP1_ENST00000316999.5_Frame_Shift_Ins_p.K142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						gaaagaaaaggaaaaaaaaaag	0.287													2	4	---	---	---	---					
PRICKLE1	144165	broad.mit.edu	37	12	42853994	42854008	+	In_Frame_Del	DEL	TGTACAGCCGCAGTC	TGTACAGCCGCAGTC	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr12:42853994_42854008delTGTACAGCCGCAGTC	ENST00000455697.1	-	8	2384_2398	c.2099_2113delGACTGCGGCTGTACA	c.(2098-2115)acc>a	p.RLRLYT700del	PRICKLE1_ENST00000548696.1_In_Frame_Del_p.RLRLYT700del|PRICKLE1_ENST00000345127.3_In_Frame_Del_p.RLRLYT700del|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_In_Frame_Del_p.RLRLYT700del|PRICKLE1_ENST00000552240.1_In_Frame_Del_p.RLRLYT700del	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	700					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTATCGGGGGTGTACAGCCGCAGTCTGTCCTTGGG	0.502													9	88	---	---	---	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	2	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70952161	70952162	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:70952161_70952162insT	ENST00000393567.2	-	47	8106_8107	c.7956_7957insA	c.(7954-7959)aaaaatfs	p.N2653fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2653										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTCCATTTCTTTTTTTTCAT	0.450													2	4	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72821619	72821621	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr16:72821619_72821621delCCG	ENST00000268489.5	-	10	11226_11228	c.10554_10556delCGG	c.(10552-10557)ggt>gg	p.GG3526del	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.GG2612del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3526	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgccaccgccgccgccgc	0.709													12	47	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dc15f-d06d-46ed-a73e-aa004a2a736a	6499af1c-b9e1-461b-a24b-fc5619748717	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)del	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													4	9	---	---	---	---