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
PPP4R1	9989	broad.mit.edu	37	18	9593792	9593792	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr18:9593792C>G	ENST00000400556.3	-	4	342	c.269G>C	c.(268-270)aGa>aCa	p.R90T	PPP4R1_ENST00000400555.3_Missense_Mutation_p.R73T|PPP4R1_ENST00000580583.1_5'UTR	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	90					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TCTGCTAATTCTTTCCAAAAC	0.363000													19	18					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115327882	115327882	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:115327882G>C	ENST00000357872.4	+	5	1292	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		390					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AATGATATTTGATGAATCAGG	0.378000													36	45					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196619155	196619155	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:196619155C>G	ENST00000312428.6	-	63	11770	c.11670G>C	c.(11668-11670)caG>caC	p.Q3890H	DNAH7_ENST00000409063.1_Missense_Mutation_p.Q373H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3890					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						TGGCGTAGTTCTGCTGGGCAC	0.463000													8	54					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44979130	44979130	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr20:44979130C>T	ENST00000372227.1	-	10	1541	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	SLC35C2_ENST00000243896.2_Missense_Mutation_p.G334D|SLC35C2_ENST00000372229.1_Missense_Mutation_p.G201D|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G363D|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000317734.8_Missense_Mutation_p.G313D|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G334D	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	334					transport	integral to membrane		p.G334D(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GGGGCTGGAGCCCAGCCCCTT	0.597000													41	45					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858534	149858534	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:149858534C>T	ENST00000331380.2	+	1	10	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	4					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CATGTCTGGTCGTGGCAAACA	0.542000													84	163					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94693633	94693633	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:94693633G>A	ENST00000282020.4	+	16	3266	c.3008G>A	c.(3007-3009)cGa>cAa	p.R1003Q	GRID2_ENST00000510992.1_Missense_Mutation_p.R908Q	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	1003					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)	GATCCAGACCGAGGCACCTCC	0.433000													37	39					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612000	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								21	20					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200584610	200584610	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:200584610G>A	ENST00000367350.4	-	3	1678	c.1240C>T	c.(1240-1242)Cat>Tat	p.H414Y		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	414	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAGTGAGGATGACATTCATCA	0.403000													47	22					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11049563	11049563	+	RNA	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr21:11049563G>C	ENST00000470054.1	-	0	545									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGTACAAAAGAACTGATCTA	0.423000													8	145					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155236635	155236635	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:155236635G>A	ENST00000368361.4	-	7	1038	c.723C>T	c.(721-723)atC>atT	p.I241I	CLK2_ENST00000361168.5_Silent_p.I240I|CLK2_ENST00000536801.1_Silent_p.I241I|CLK2_ENST00000355560.4_Silent_p.I239I|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	241	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTCAAAGGAGATACACATGT	0.532000								Other conserved DNA damage response genes					11	54					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46321536	46321536	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr21:46321536G>A	ENST00000397850.2	-	7	1064	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ITGB2_ENST00000397854.3_Silent_p.F147F|ITGB2_ENST00000397852.1_Silent_p.F204F|ITGB2_ENST00000397857.1_Silent_p.F204F|ITGB2_ENST00000355153.4_Silent_p.F204F|ITGB2_ENST00000302347.5_Silent_p.F204F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	204	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCACGTGCCTGAAGGCAAACG	0.587000													41	63					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498765	156498765	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:156498765C>T	ENST00000361170.2	-	35	4524	c.4514G>A	c.(4513-4515)gGt>gAt	p.G1505D		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1505					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTAGTAGTCACCCTGCTCCTC	0.582000													38	96					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7546750	7546750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:7546750G>A	ENST00000399429.3	-	10	1110	c.970C>T	c.(970-972)Cag>Tag	p.Q324*		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	324	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCCTTACCTGAATTCCTCTG	0.428000													35	51					0	0	1	0	0
DLG3	1741	broad.mit.edu	37	X	69672576	69672576	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:69672576C>T	ENST00000374355.3	+	1	422	c.105C>T	c.(103-105)ctC>ctT	p.L35L	DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374360.3_Intron	NM_020730.2	NP_065781.1	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	0					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCTGGCCGCTCCGCTCCCTGC	0.706000													23	0					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				118	129					0	0	1	0	0
MCL1	4170	broad.mit.edu	37	1	150551566	150551566	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:150551566G>A	ENST00000369026.2	-	1	500	c.441C>T	c.(439-441)gtC>gtT	p.V147V	MCL1_ENST00000307940.3_Silent_p.V147V	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	147	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	p.V147V(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAGATTCCCCGACCAACTCCA	0.662000													62	84					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709136	128709136	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:128709136G>C	ENST00000392665.2	-	2	1147	c.1003C>G	c.(1003-1005)Cac>Gac	p.H335D	KCNJ1_ENST00000324036.3_Missense_Mutation_p.H335D|KCNJ1_ENST00000440599.2_Missense_Mutation_p.H335D|KCNJ1_ENST00000392666.1_Missense_Mutation_p.H335D|KCNJ1_ENST00000392664.2_Missense_Mutation_p.H354D	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	354					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATGGCACAGTGAGGGGTCTCC	0.448000													26	1					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103494920	103494920	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:103494920G>C	ENST00000372588.4	-	4	1293	c.1210C>G	c.(1210-1212)Ccc>Gcc	p.P404A		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	404					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TAGAAAAAGGGACATGCATAA	0.468000													29	0					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184648312	184648312	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:184648312G>A	ENST00000437079.3	+	34	3025	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	VPS8_ENST00000446204.2_Missense_Mutation_p.E860K|VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000287546.4_Missense_Mutation_p.E952K|VPS8_ENST00000436792.2_Missense_Mutation_p.E950K	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	952							zinc ion binding	p.E952K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACACAGTGCAGAGGAGAAGCA	0.393000													33	40					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676610	150676610	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:150676610G>T	ENST00000368993.2	-	12	1037	c.932C>A	c.(931-933)tCt>tAt	p.S311Y	HORMAD1_ENST00000368995.4_Missense_Mutation_p.S231Y|HORMAD1_ENST00000361824.2_Missense_Mutation_p.S311Y|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S304Y			Q86X24	HORM1_HUMAN	HORMA domain containing 1	311					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATGAGAAATAGAAAGATCTGG	0.299000													6	9					8.12818e-05	8.3204e-05	1	1	0
STAR	6770	broad.mit.edu	37	8	38006217	38006217	+	Silent	SNP	C	C	T	rs138786388	byFrequency	TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr8:38006217C>T	ENST00000276449.4	-	2	566	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	40					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TGGGGCCCCCCAGGGCCCTCC	0.622000													31	38					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2877807	2877807	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:2877807G>A	ENST00000355842.3	+	3	1028	c.165G>A	c.(163-165)aaG>aaA	p.K55K	ADD1_ENST00000513328.2_Silent_p.K55K|ADD1_ENST00000398125.1_Silent_p.K55K|ADD1_ENST00000264758.7_Silent_p.K55K|ADD1_ENST00000446856.1_Silent_p.K55K|ADD1_ENST00000503455.2_Silent_p.K55K|ADD1_ENST00000398129.1_Silent_p.K55K|ADD1_ENST00000398123.2_Silent_p.K55K			P35611	ADDA_HUMAN	adducin 1 (alpha)	55					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGAGCAAAAGAAGAGGGTGT	0.468000													36	32					0	0	1	0	0
NUDT6	11162	broad.mit.edu	37	4	123843692	123843692	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:123843692C>T	ENST00000304430.5	-	1	69	c.36G>A	c.(34-36)gcG>gcA	p.A12A	NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	12						mitochondrion|nucleus	growth factor activity|hydrolase activity			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						GGGCAAGCATCGCGCGCCAGC	0.692000													16	20					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675857	73675857	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:73675857C>G	ENST00000264448.6	+	8	2311	c.2200C>G	c.(2200-2202)Caa>Gaa	p.Q734E	ALMS1_ENST00000377715.1_Missense_Mutation_p.Q734E|ALMS1_ENST00000409009.1_Missense_Mutation_p.Q692E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	734	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGACAGTCATCAAACTGAAGA	0.458000													92	112					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15474228	15474228	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr9:15474228C>A	ENST00000380733.4	-	9	980	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	PSIP1_ENST00000380716.4_Nonsense_Mutation_p.E213*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.E213*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.E213*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.E213*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	213					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGTCCTCTTCAGTAATGCTA	0.318000													55	1					2.31418e-15	2.48651e-15	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140515287	140515287	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:140515287G>C	ENST00000231134.5	+	1	488	c.271G>C	c.(271-273)Gac>Cac	p.D91H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		91	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAAAAACTAGACCGGGAGGT	0.468000													47	54					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717882	73717882	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:73717882G>C	ENST00000264448.6	+	10	8904	c.8793G>C	c.(8791-8793)caG>caC	p.Q2931H	ALMS1_ENST00000409009.1_Missense_Mutation_p.Q2889H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2931					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTTTGAACAGTGCAAAGCCC	0.438000													99	110					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16914272	16914272	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:16914272C>T	ENST00000430580.2	-	10	1401	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	172	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAACATCTTCATCCTCATCT	0.423000													90	395					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					6	63					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80559369	80559369	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:80559369G>A	ENST00000335255.5	+	9	2151	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	659					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGGGTGTCCAGAACTAGCGAC	0.612000													30	28					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20067393	20067393	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:20067393C>T	ENST00000294543.6	-	11	1160	c.919G>A	c.(919-921)Gag>Aag	p.E307K	TMCO4_ENST00000375122.2_Missense_Mutation_p.E267K|TMCO4_ENST00000375127.1_Missense_Mutation_p.E307K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	307						integral to membrane		p.E307*(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTACTGCTCACGGCTGTGG	0.632000													37	28					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143181647	143181647	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:143181647G>C	ENST00000513000.1	-	12	1119	c.686C>G	c.(685-687)tCa>tGa	p.S229*	INPP4B_ENST00000509777.1_Nonsense_Mutation_p.S229*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.S229*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.S229*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.S229*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	229					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTACATACCTGAATTCAAAAA	0.313000													6	36					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284770	223284770	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:223284770G>C	ENST00000540964.1	-	4	2065	c.1604C>G	c.(1603-1605)tCc>tGc	p.S535C	TLR5_ENST00000342210.6_Missense_Mutation_p.S535C			O60602	TLR5_HUMAN	toll-like receptor 5	535			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAGCCTGTTGGAGTTGAGGCT	0.408000													36	99					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206534	74206534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:74206534G>A	ENST00000286523.5	-	2	960	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	ELMSAN1_ENST00000394071.2_Nonsense_Mutation_p.Q60*	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		TCCACAGGCTGAGAGGTGGAG	0.662000													61	70					0	0	1	0	0
TSEN34	79042	broad.mit.edu	37	19	54695668	54695668	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:54695668G>A	ENST00000396383.1	+	3	651	c.340G>A	c.(340-342)Gag>Aag	p.E114K	TSEN34_ENST00000302937.4_Missense_Mutation_p.E114K|TSEN34_ENST00000429671.2_Missense_Mutation_p.E114K|TSEN34_ENST00000396388.2_Missense_Mutation_p.E114K			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	114					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGCTCCTGGAGAAGATTAC	0.622000													49	51					0	0	1	0	0
PAPD5	64282	broad.mit.edu	37	16	50258849	50258849	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:50258849G>A	ENST00000357464.3	+	10	1274	c.1274G>A	c.(1273-1275)aGa>aAa	p.R425K	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.R504K|PAPD5_ENST00000561678.1_Missense_Mutation_p.R394K			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	425					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GCCACATATAGAGATTGGATA	0.378000													54	62					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29886111	29886111	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:29886111G>A	ENST00000310624.6	+	4	2515	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	834	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAGGAGGAGAAGCCCCA	0.542000													10	26					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87671651	87671651	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:87671651C>T	ENST00000436978.1	+	18	3159	c.2679C>T	c.(2677-2679)ctC>ctT	p.L893L	PTPN13_ENST00000427191.2_Silent_p.L893L|PTPN13_ENST00000411767.2_Silent_p.L893L|PTPN13_ENST00000511467.1_Silent_p.L893L|PTPN13_ENST00000316707.6_Intron	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	893						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCCTGAATCTCCAAGCAGAGT	0.423000													86	111					0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64267637	64267637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:64267637C>T	ENST00000381070.3	+	12	1367	c.1150C>T	c.(1150-1152)Cag>Tag	p.Q384*	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	384					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CCGGGAAGATCAGGTAACTTC	0.383000													16	12					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22933320	22933320	+	RNA	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:22933320G>C	ENST00000514473.2	-	0	225				TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA																							TGTAAGGTAAGAATTAGCCGC	0.433000													10	9					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676604	150676604	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:150676604G>A	ENST00000368993.2	-	12	1043	c.938C>T	c.(937-939)tCt>tTt	p.S313F	HORMAD1_ENST00000368995.4_Missense_Mutation_p.S233F|HORMAD1_ENST00000361824.2_Missense_Mutation_p.S313F|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S306F			Q86X24	HORM1_HUMAN	HORMA domain containing 1	313					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGAATGAGAAATAGAAAG	0.303000													6	9					0	0	1	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220073221	220073221	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:220073221G>A	ENST00000409097.1	+	7	658	c.601G>A	c.(601-603)Gag>Aag	p.E201K	ZFAND2B_ENST00000444522.2_Missense_Mutation_p.E201K|ZFAND2B_ENST00000289528.5_Intron|ZFAND2B_ENST00000409336.1_Intron|ZFAND2B_ENST00000409217.1_Intron|ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000409594.1_3'UTR			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	0						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGGGCAGAGGTTGGATG	0.547000													50	55					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69933970	69933970	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:69933970C>T	ENST00000355303.5	+	2	526	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ANO1_ENST00000538023.1_Missense_Mutation_p.S74L|ANO1_ENST00000316296.5_Missense_Mutation_p.S46L|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000398543.2_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	74					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGAGGCCCTCGGGCAACCGG	0.652000													69	15					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848832	83848832	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:83848832G>C	ENST00000349129.2	+	21	5331	c.5071G>C	c.(5071-5073)Gat>Cat	p.D1691H	DOPEY1_ENST00000369739.3_Missense_Mutation_p.D1682H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D1672H|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1691					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGAAATTTAGATAATCTAAT	0.353000													24	30					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184911022	184911022	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:184911022C>T	ENST00000231887.3	-	7	1239	c.1164G>A	c.(1162-1164)ctG>ctA	p.L388L	EHHADH_ENST00000456310.1_Silent_p.L292L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	388	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCTGCTTCTTCAGGCTCATTT	0.453000													56	66					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72179754	72179754	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr18:72179754C>T	ENST00000324262.4	+	7	1045	c.729C>T	c.(727-729)ctC>ctT	p.L243L	CNDP2_ENST00000324301.8_Silent_p.L159L|CNDP2_ENST00000579847.1_Silent_p.L243L	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	243						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGACTGATCTCATTTTGCTGA	0.557000													37	52					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458281	248458281	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:248458281G>A	ENST00000317996.1	-	1	599	c.600C>T	c.(598-600)tgC>tgT	p.C200C		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TTAACACACAGCAGATGTACA	0.547000													86	42					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50642247	50642247	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:50642247G>C	ENST00000268459.3	+	4	459	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	RP11-401P9.6_ENST00000379963.1_RNA|NKD1_ENST00000564336.1_3'UTR	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	79					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)		CAGCGAGGAAGAGGAGGACGA	0.612000													44	66					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019783	245019783	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:245019783C>G	ENST00000444376.2	-	10	2065	c.1831G>C	c.(1831-1833)Gaa>Caa	p.E611Q	HNRNPU_ENST00000283179.9_Missense_Mutation_p.E630Q	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	630					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			ACCGCATGTTCTGGTAGGTCT	0.383000													43	106					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123036884	123036884	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:123036884C>T	ENST00000462833.1	-	11	3549	c.2337G>A	c.(2335-2337)caG>caA	p.Q779Q	ADCY5_ENST00000491190.1_Silent_p.Q412Q|ADCY5_ENST00000309879.5_Silent_p.Q429Q	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	779					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CGATGGTGATCTGGACAAAGC	0.587000													32	32					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046637	76046637	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:76046637G>A	ENST00000335749.4	+	3	2063	c.1494G>A	c.(1492-1494)atG>atA	p.M498I	TNRC6C_ENST00000541771.1_Missense_Mutation_p.M498I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.M498I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.M498I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.M498I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.M498I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	498	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTCCATCATGAACAGTACAA	0.537000													35	58					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2834034	2834034	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr9:2834034C>T	ENST00000397885.2	-	4	643	c.437G>A	c.(436-438)aGa>aAa	p.R146K		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	146	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAATTACCTTCTTAAAATCTC	0.368000													32	0					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140810589	140810589	+	Silent	SNP	C	C	T	rs6858140		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:140810589C>T	ENST00000509479.2	-	2	2857	c.2001G>A	c.(1999-2001)caG>caA	p.Q667Q	MAML3_ENST00000327122.5_Silent_p.Q511Q|MAML3_ENST00000398940.1_Silent_p.Q195Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	663	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GCAGGCGTTTCTGGTCTTCGC	0.577000													28	30					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184637	39184637	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:39184637G>C	ENST00000273153.5	-	5	1856	c.1679C>G	c.(1678-1680)tCc>tGc	p.S560C	CSRNP1_ENST00000514182.1_Missense_Mutation_p.S560C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	560					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						GGCTGGCTCGGAGAAGCCCAT	0.602000													13	94					0	0	1	0	0
TOB2	10766	broad.mit.edu	37	22	41833050	41833050	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:41833050G>A	ENST00000327492.3	-	2	1006	c.300C>T	c.(298-300)tcC>tcT	p.S100S		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	100					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAATCTGGTAGGACACCTCAA	0.582000													36	53					0	0	1	0	0
PEBP1	5037	broad.mit.edu	37	12	118582395	118582395	+	Silent	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr12:118582395C>G	ENST00000261313.2	+	4	703	c.351C>G	c.(349-351)ctC>ctG	p.L117L	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	117							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCACAGGCCTCCACCGCTATG	0.547000													6	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8993377	8993377	+	Silent	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:8993377G>C	ENST00000397910.4	-	66	41915	c.41712C>G	c.(41710-41712)gtC>gtG	p.V13904V	MUC16_ENST00000380951.5_Silent_p.V545V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13907	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCACCATTGACATAGAGAC	0.547000													69	103					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101627982	101627982	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:101627982C>T	ENST00000409318.1	-	18	2978	c.2848G>A	c.(2848-2850)Gac>Aac	p.D950N	RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.D935N	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	935					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GACTGGCTGTCTCGGTCATTT	0.433000													12	70					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123021998	123021998	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:123021998G>A	ENST00000462833.1	-	14	3840	c.2628C>T	c.(2626-2628)gtC>gtT	p.V876V	ADCY5_ENST00000491190.1_Silent_p.V509V|ADCY5_ENST00000309879.5_Silent_p.V526V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	876					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GACACGCGTTGACCTGGCTCG	0.647000													31	28					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	33877891	33877891	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr18:33877891C>A	ENST00000257209.4	+	1	215	c.93C>A	c.(91-93)ttC>ttA	p.F31L	FHOD3_ENST00000590592.1_Missense_Mutation_p.F31L|FHOD3_ENST00000445677.1_Missense_Mutation_p.F31L|FHOD3_ENST00000359247.4_Missense_Mutation_p.F31L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	31	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCCGCTGTTCACGTTCCGCG	0.697000													4	8					1.23904e-05	1.27697e-05	1	1	0
UBR4	23352	broad.mit.edu	37	1	19443827	19443827	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:19443827T>C	ENST00000375267.2	-	73	10714	c.10711A>G	c.(10711-10713)Atc>Gtc	p.I3571V	UBR4_ENST00000375226.2_Missense_Mutation_p.I3547V|UBR4_ENST00000375218.3_5'UTR|UBR4_ENST00000375254.3_Missense_Mutation_p.I3571V|UBR4_ENST00000375217.2_Missense_Mutation_p.I3564V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3571					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTTTGCTGATGGTGTGACTG	0.483000													57	67					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220044878	220044878	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:220044878G>A	ENST00000430297.2	+	4	602	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	156						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTGTGCCCGAGTTGTGCAG	0.612000													52	73					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454677	6454677	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:6454677C>G	ENST00000301454.4	-	5	641	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	SLC25A23_ENST00000334510.5_Missense_Mutation_p.E179Q|SLC25A23_ENST00000414491.2_5'UTR	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	179					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GTCAGCTTCTCTTGCTTTGAG	0.612000													27	35					0	0	1	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59950590	59950590	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:59950590C>T	ENST00000247194.4	-	1	558	c.445G>A	c.(445-447)Gag>Aag	p.E149K	RP11-701B16.2_ENST00000554253.1_RNA	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		CGGCCGTCCTCGCATGCCACG	0.706000											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	5					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139906634	139906634	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:139906634G>C	ENST00000297183.6	+	27	5186	c.5062G>C	c.(5062-5064)Gaa>Caa	p.E1688Q	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E1688Q|ANKHD1_ENST00000544120.1_Missense_Mutation_p.E71Q|ANKHD1_ENST00000360839.2_Missense_Mutation_p.E1688Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGAGAAGAAGGGTGGAA	0.378000													9	22					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228553871	228553871	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:228553871C>T	ENST00000570156.2	+	94	22105	c.22031C>T	c.(22030-22032)tCg>tTg	p.S7344L	OBSCN_ENST00000422127.1_Missense_Mutation_p.S6387L|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4021L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6387					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACAGCCCTCGGTGACCTGG	0.647000													62	33					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243468068	243468068	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:243468068G>C	ENST00000366541.3	+	7	847	c.729G>C	c.(727-729)ttG>ttC	p.L243F	SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.L98F|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.L243F|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.L200F	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	243	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATCCCAATTGAAGTTTTTGA	0.294000													12	30					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148550834	148550834	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:148550834G>A	ENST00000296582.3	+	6	1231	c.657G>A	c.(655-657)atG>atA	p.M219I	TMEM184C_ENST00000508208.1_Missense_Mutation_p.M219I	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	219						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TAAACAACATGTCACAGTTGG	0.294000													17	26					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24036510	24036510	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:24036510G>A	ENST00000308724.5	-	1	769	c.14C>T	c.(13-15)tCg>tTg	p.S5L	AP1G2_ENST00000397120.3_Missense_Mutation_p.S5L|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	5					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AAGCTTCAGCGAAGGCACCAC	0.632000											OREG0022606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	19					0	0	1	0	0
ARPC1B	10095	broad.mit.edu	37	7	98988645	98988645	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:98988645C>T	ENST00000451682.1	+	8	939	c.630C>T	c.(628-630)ttC>ttT	p.F210F	ARPC1B_ENST00000252725.5_Silent_p.F210F			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	210					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTCTGTTTCTCAGCCAGCG	0.642000													16	28					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516903	140516903	+	Silent	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:140516903G>T	ENST00000231134.5	+	1	2104	c.1887G>T	c.(1885-1887)ctG>ctT	p.L629L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		629	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGCTGCTGAGCGAGCGCG	0.697000													67	80					3.13765e-25	3.4446e-25	1	1	0
LDLR	3949	broad.mit.edu	37	19	11226799	11226799	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:11226799C>A	ENST00000558518.1	+	11	1803	c.1616C>A	c.(1615-1617)cCc>cAc	p.P539H	LDLR_ENST00000455727.2_Missense_Mutation_p.P371H|LDLR_ENST00000558013.1_Missense_Mutation_p.P539H|LDLR_ENST00000545707.1_Missense_Mutation_p.P412H|LDLR_ENST00000535915.1_Missense_Mutation_p.P498H|LDLR_ENST00000557933.1_Missense_Mutation_p.P539H	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	539					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGGGAACTCCCGCCAAGATC	0.557000													56	65					2.27459e-33	2.52455e-33	1	1	0
TET3	200424	broad.mit.edu	37	2	74329138	74329138	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:74329138G>A	ENST00000409262.3	+	9	4818	c.4818G>A	c.(4816-4818)ggG>ggA	p.G1606G		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1606							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCTCTACGGGAAGAAGCGCA	0.672000													10	19					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45121154	45121154	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:45121154C>T	ENST00000403581.1	+	5	924	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PRR5-ARHGAP8_ENST00000352766.7_Silent_p.F82F|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.F82F|PRR5_ENST00000477331.1_Intron|PRR5_ENST00000006251.7_Silent_p.F73F|ARHGAP8_ENST00000389773.5_Silent_p.F73F|ARHGAP8_ENST00000517296.3_Silent_p.F82F|PRR5_ENST00000336985.6_Silent_p.F82F	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TGGGGTCCTTCTTCACGGAGT	0.642000													22	32					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124174041	124174041	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:124174041G>A	ENST00000360013.3	+	22	3691	c.3564G>A	c.(3562-3564)gtG>gtA	p.V1188V	KALRN_ENST00000240874.3_Silent_p.V1188V|KALRN_ENST00000460856.1_Silent_p.V1179V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1188					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGAGAAGGTGAAGCTTCTGA	0.478000													39	36					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054508	143054508	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:143054508C>G	ENST00000409408.1	-	5	2099	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	FAM131B_ENST00000409222.3_Missense_Mutation_p.E131Q|FAM131B_ENST00000409346.1_Missense_Mutation_p.E131Q|FAM131B_ENST00000443739.2_Missense_Mutation_p.E159Q|FAM131B_ENST00000409578.1_Missense_Mutation_p.E147Q			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	131										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCAAACTGCTCCATGACGCCT	0.512000													12	75					0	0	1	0	0
PFN1	5216	broad.mit.edu	37	17	4849975	4849975	+	Missense_Mutation	SNP	C	C	G	rs143858310		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:4849975C>G	ENST00000225655.5	-	2	892	c.273G>C	c.(271-273)aaG>aaC	p.K91N	PFN1_ENST00000574872.1_Missense_Mutation_p.K55N	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	91					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGGTGCTCTTGGTACGAA	0.512000													64	85					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101791463	101791463	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:101791463C>T	ENST00000254190.3	-	1	674	c.199G>A	c.(199-201)Ggg>Agg	p.G67R		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	67					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCTgcgccccgcgcgcatcg	0.761000													4	4					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151962236	151962236	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:151962236G>C	ENST00000355193.2	-	8	1289	c.1071C>G	c.(1069-1071)ttC>ttG	p.F357L	KMT2C_ENST00000262189.6_Missense_Mutation_p.F357L					lysine (K)-specific methyltransferase 2C																		TAGTACAAAAGAACTGATCTA	0.423000													8	277					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827444	96827444	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr10:96827444G>C	ENST00000371270.3	-	2	267	c.173C>G	c.(172-174)tCa>tGa	p.S58*	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	58					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATAGACTTTTGAGAACTGGGA	0.378000													19	17					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27591875	27591875	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:27591875G>A	ENST00000493344.2	-	3	791	c.479C>T	c.(478-480)tCa>tTa	p.S160L	EIF2B4_ENST00000445933.2_Missense_Mutation_p.S138L|EIF2B4_ENST00000451130.2_Missense_Mutation_p.S159L|EIF2B4_ENST00000347454.4_Missense_Mutation_p.S139L			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	139					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGATACCTGAGGGGGTTTC	0.547000													17	79					0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387418	119387418	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:119387418C>T	ENST00000326624.2	+	2	376	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	ZBTB33_ENST00000557385.1_Missense_Mutation_p.L50F	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	50	BTB.|Interaction with NCOR1.|Self-association (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAAGAATATTCTTTCAGCTTC	0.438000													113	3					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179660077	179660077	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:179660077G>A	ENST00000444136.1	+	18	3357	c.3107G>A	c.(3106-3108)tGa>tAa	p.*1036*	TDRD5_ENST00000294848.8_Silent_p.*982*|TDRD5_ENST00000367614.1_Silent_p.*982*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	0					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATGGAAGCATGAGGGAGGGAG	0.517000													41	26					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100126096	100126096	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:100126096C>T	ENST00000394899.2	-	8	1182	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	ADH6_ENST00000237653.7_Missense_Mutation_p.M363I|ADH6_ENST00000407820.2_Missense_Mutation_p.M154I|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA	NM_001102470.1	NP_001095940	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	363					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TTCCAGTTTTCATTAATTCAA	0.373000													25	20					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745615	37745615	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr9:37745615C>G	ENST00000539465.1	+	16	4179	c.3586C>G	c.(3586-3588)Caa>Gaa	p.Q1196E	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1196E			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1196						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCCAGGCTCAAGAACAAAA	0.527000													38	8					0	0	1	0	0
ERP29	10961	broad.mit.edu	37	12	112460373	112460373	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr12:112460373G>C	ENST00000261735.3	+	3	853	c.703G>C	c.(703-705)Gac>Cac	p.D235H	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.D134H	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	235					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CAAGATGAGTGACGGGAAGAA	0.502000													57	68					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119528935	119528935	+	Silent	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:119528935G>C	ENST00000393716.2	+	3	2064	c.225G>C	c.(223-225)ctG>ctC	p.L75L	NR1I2_ENST00000466380.1_Silent_p.L75L|NR1I2_ENST00000337940.4_Silent_p.L114L	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	75					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	ACGCCCGGCTGAGGTGCCCCT	0.697000													23	31					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	65					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97373548	97373548	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:97373548C>G	ENST00000264963.4	-	7	829	c.807G>C	c.(805-807)ttG>ttC	p.L269F	LMAN2L_ENST00000426463.2_Missense_Mutation_p.L135F|LMAN2L_ENST00000534882.1_Missense_Mutation_p.L124F|LMAN2L_ENST00000537039.1_Missense_Mutation_p.L131F|LMAN2L_ENST00000377079.4_Missense_Mutation_p.L280F	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	269	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CAAACAACTTCAAGGAAATGA	0.413000													47	59					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516732	140516732	+	Silent	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:140516732C>A	ENST00000231134.5	+	1	1933	c.1716C>A	c.(1714-1716)acC>acA	p.T572T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		572	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTTGCACCGAGCTGGTGC	0.706000													82	100					1.02218e-41	1.14288e-41	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48318187	48318187	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:48318187C>G	ENST00000435803.1	+	18	7420	c.7396C>G	c.(7396-7398)Cta>Gta	p.L2466V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2466					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCATTCCCTCTAAGAAACAG	0.358000													45	55					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186105883	186105883	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:186105883G>C	ENST00000271588.4	+	87	13625	c.13396G>C	c.(13396-13398)Gag>Cag	p.E4466Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.E4466Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4466	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAACTGGAGAGCCTCAACC	0.443000													26	78					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206590756	206590756	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:206590756G>A	ENST00000360409.3	+	6	1731	c.940G>A	c.(940-942)Gat>Aat	p.D314N	NRP2_ENST00000272849.3_Missense_Mutation_p.D314N|NRP2_ENST00000412873.2_Missense_Mutation_p.D314N|NRP2_ENST00000357118.4_Missense_Mutation_p.D314N|NRP2_ENST00000417189.1_Missense_Mutation_p.D314N|NRP2_ENST00000355117.4_Missense_Mutation_p.D314N|NRP2_ENST00000540841.1_Missense_Mutation_p.D314N|NRP2_ENST00000357785.5_Missense_Mutation_p.D314N|NRP2_ENST00000540178.1_Missense_Mutation_p.D314N	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	314	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCTCCATGGTGATGACAATGG	0.522000													21	35					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74206571	74206571	+	Silent	SNP	G	G	A	rs45489992	byFrequency	TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:74206571G>A	ENST00000286523.5	-	2	923	c.141C>T	c.(139-141)ctC>ctT	p.L47L	ELMSAN1_ENST00000394071.2_Silent_p.L47L	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CCTCGTGCCCGAGGTACTGCT	0.657000													71	73					0	0	1	0	0
EIF3M	10480	broad.mit.edu	37	11	32605464	32605464	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:32605464G>A	ENST00000531120.1	+	1	94	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	EIF3M_ENST00000524896.1_Missense_Mutation_p.E11K	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	11						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CGACATCAGTGAAGAAGATCA	0.677000													15	12					0	0	1	0	0
TMEM120A	83862	broad.mit.edu	37	7	75616630	75616630	+	RNA	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:75616630G>T	ENST00000338761.4	-	0	1007				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GTGAGGGCTGGACATGGGCCT	0.617000													4	3					0.00909568	0.00924829	1	1	0
ZNF345	25850	broad.mit.edu	37	19	37369132	37369132	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:37369132C>T	ENST00000529555.1	+	2	2188	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L	ZNF345_ENST00000420450.1_Missense_Mutation_p.S467L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.S467L|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	467					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGAGGGATTCAGAGTTTCAG	0.368000													18	117					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33849303	33849303	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:33849303G>A	ENST00000361112.4	-	2	974	c.96C>T	c.(94-96)ttC>ttT	p.F32F				Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	0						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CTTACCTGATGAAATTCCTCA	0.378000													20	24					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33028019	33028019	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr20:33028019C>G	ENST00000374864.4	+	9	952	c.739C>G	c.(739-741)Ctg>Gtg	p.L247V	ITCH_ENST00000535650.1_Missense_Mutation_p.L137V|ITCH_ENST00000262650.6_Missense_Mutation_p.L288V	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	288					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.L247L(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TACAGGCTCTCTGCCGCCGAC	0.403000													6	45					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534877	92534877	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:92534877G>A	ENST00000298047.6	+	9	8715	c.8698G>A	c.(8698-8700)Gag>Aag	p.E2900K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2750K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2900K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2900	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACCTTGGAGAGGCATTCTC	0.512000										TCGA Ovarian(4;0.039)			29	82					0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992390	19992390	+	Missense_Mutation	SNP	C	C	G	rs61733141		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:19992390C>G	ENST00000289753.1	+	1	611	c.144C>G	c.(142-144)atC>atG	p.I48M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	48					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGCTGCTGATCGCGCTCATCT	0.716000													5	11					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502820	140502820	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:140502820G>A	ENST00000194152.1	+	1	1240	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		414	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACCAGCGCTGAGTACAA	0.483000													36	47					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72298137	72298137	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr10:72298137G>A	ENST00000263563.6	+	12	1693	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CTGTGGCTCCGAGGGACCTCA	0.642000													22	25					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776617	77776617	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr8:77776617C>T	ENST00000521891.2	+	11	11115	c.10667C>T	c.(10666-10668)tCa>tTa	p.S3556L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3507L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3530L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3511L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3507						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGTTACCTCAAGTTTGTGC	0.498000										HNSCC(33;0.089)			46	40					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50912037	50912037	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:50912037C>G	ENST00000595904.1	+	14	1849	c.1849C>G	c.(1849-1851)Ccc>Gcc	p.P617A	POLD1_ENST00000440232.2_Intron|POLD1_ENST00000599857.1_Intron			P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	592					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGCTCCCCTCCCAGGTACTA	0.597000								DNA polymerases (catalytic subunits)					38	27					0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229730649	229730649	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:229730649C>G	ENST00000258281.2	-	5	1330	c.1165G>C	c.(1165-1167)Gat>Cat	p.D389H	TAF5L_ENST00000366676.1_Missense_Mutation_p.D389H	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	389					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGTCCAGATCCCACACAGGA	0.532000													86	36					0	0	1	0	0
MRC1	4360	broad.mit.edu	37	10	18122665	18122665	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr10:18122665G>A	ENST00000239761.3	+	4	778	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	225	C-type lectin 1.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AAGACCCGCTGACCAGCGTTT	0.448000													36	1					0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100274180	100274180	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:100274180C>A	ENST00000403410.1	+	4	793	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	TMEM45A_ENST00000462884.1_3'UTR|TMEM45A_ENST00000323523.4_Missense_Mutation_p.S42Y			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	42						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TATCTTGGTTCCAAAACATTA	0.368000													41	49					2.87052e-16	3.09526e-16	1	1	0
MZT2B	80097	broad.mit.edu	37	2	130948175	130948175	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:130948175G>C	ENST00000281871.6	+	3	808	c.453G>C	c.(451-453)aaG>aaC	p.K151N	MZT2B_ENST00000409255.1_Missense_Mutation_p.K211N	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	151						centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						GGCCTGGGAAGAGCCCTACAC	0.602000													40	48					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279985	32279985	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:32279985G>A	ENST00000360482.2	-	2	1079	c.950C>T	c.(949-951)tCa>tTa	p.S317L	SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.S317L|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S317L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	317					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGTGCAGCTGAACTGAGGGA	0.642000													7	12					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1261066	1261066	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:1261066C>T	ENST00000447027.1	+	28	3688	c.3630C>T	c.(3628-3630)ttC>ttT	p.F1210F	MUC5B_ENST00000529681.1_Silent_p.F1207F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1207	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCCCTTCTTCAATGAGGACC	0.617000													9	19					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48634313	48634313	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:48634313C>T	ENST00000435803.1	+	58	14672	c.14648C>T	c.(14647-14649)cCc>cTc	p.P4883L	ABCA13_ENST00000544596.1_Missense_Mutation_p.P613L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4883	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGGATGAGCCCAGCTCTGGG	0.498000													44	57					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228558954	228558954	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:228558954C>T	ENST00000570156.2	+	105	23420	c.23346C>T	c.(23344-23346)ttC>ttT	p.F7782F	OBSCN_ENST00000422127.1_Silent_p.F6825F|OBSCN_ENST00000366707.4_Silent_p.F4459F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6825	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCGGGGCTTCCTGCGGCCCT	0.711000													16	9					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44127899	44127899	+	Splice_Site	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:44127899C>T	ENST00000262419.6	-	7	2490	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	KANSL1_ENST00000575318.1_Splice_Site_p.D674N|KANSL1_ENST00000572904.1_Splice_Site_p.D674N|KANSL1_ENST00000432791.1_Splice_Site_p.D674N|KANSL1_ENST00000393476.3_Splice_Site_p.D31N|KANSL1_ENST00000574590.1_Splice_Site_p.D674N	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	674						MLL1 complex	protein binding										TCTTTCTTACCATCTGGAAAT	0.428000													10	12					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74860132	74860132	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr9:74860132C>A	ENST00000358399.3	+	12	1297	c.1204C>A	c.(1204-1206)Ccc>Acc	p.P402T	GDA_ENST00000238018.4_Missense_Mutation_p.P402T|GDA_ENST00000376986.1_Missense_Mutation_p.P324T|GDA_ENST00000376989.3_Missense_Mutation_p.P341T|GDA_ENST00000545168.1_Missense_Mutation_p.P328T	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	402					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CCTGATCAACCCCAAAGCATC	0.408000													44	1					2.95478e-19	3.20895e-19	1	1	0
PKD2L1	9033	broad.mit.edu	37	10	102059380	102059380	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr10:102059380G>C	ENST00000318222.3	-	3	827	c.445C>G	c.(445-447)Cag>Gag	p.Q149E	PKD2L1_ENST00000338519.3_Missense_Mutation_p.Q149E|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q149E	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	149					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTGATGGCCTGAAAGGAGACT	0.483000													29	21					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:16640580T>C	ENST00000546361.2	-	8	1159	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	336	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667000													4	40					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71891510	71891510	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:71891510G>C	ENST00000258104.3	+	45	5276	c.4999G>C	c.(4999-5001)Gag>Cag	p.E1667Q	DYSF_ENST00000409762.1_Missense_Mutation_p.E1684Q|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.E1698Q|DYSF_ENST00000409366.1_Missense_Mutation_p.E1689Q|DYSF_ENST00000409744.1_Missense_Mutation_p.E1675Q|DYSF_ENST00000394120.2_Missense_Mutation_p.E1668Q|DYSF_ENST00000409582.3_Missense_Mutation_p.E1705Q|DYSF_ENST00000409651.1_Missense_Mutation_p.E1699Q|DYSF_ENST00000410020.3_Missense_Mutation_p.E1706Q|DYSF_ENST00000429174.2_Missense_Mutation_p.E1688Q|DYSF_ENST00000410041.1_Missense_Mutation_p.E1685Q	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1667						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGTCGACCTGGAGAACAGGCT	0.557000													17	37					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73922121	73922121	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:73922121C>G	ENST00000586717.1	-	11	1089	c.816G>C	c.(814-816)caG>caC	p.Q272H	FBF1_ENST00000319129.5_Missense_Mutation_p.Q272H|FBF1_ENST00000389570.4_Missense_Mutation_p.Q272H			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	272										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTGTGGCCTCTGGTACTTCT	0.607000													13	12					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16640583	16640583	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:16640583C>T	ENST00000546361.2	-	8	1156	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q	CHERP_ENST00000198939.6_Silent_p.Q346Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	335	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgttgctgctgctgct	0.667000													4	42					0	0	1	0	0
SNAPC1	6617	broad.mit.edu	37	14	62233706	62233706	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:62233706C>G	ENST00000216294.4	+	2	345	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	81	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TGCTTTGTATCTGCTATATGG	0.328000													4	18					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111699001	111699001	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:111699001G>A	ENST00000435970.1	-	14	2082	c.1266C>T	c.(1264-1266)gaC>gaT	p.D422D	REV3L_ENST00000368805.1_Silent_p.D500D|REV3L_ENST00000358835.3_Silent_p.D500D|REV3L_ENST00000368802.3_Silent_p.D500D			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	500					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGAAGATGAGTCATCATCTT	0.393000								DNA polymerases (catalytic subunits)					18	26					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3955395	3955395	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:3955395C>T	ENST00000381638.2	-	35	5594	c.5470G>A	c.(5470-5472)Gaa>Aaa	p.E1824K		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1824							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTGACCATTTCATGGTCGTCT	0.522000													19	14					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89920743	89920743	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:89920743C>G	ENST00000378247.3	+	4	738	c.695C>G	c.(694-696)gCa>gGa	p.A232G	SPIRE2_ENST00000393062.2_Missense_Mutation_p.A232G	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	232					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGCCTCGGGCAGAGCTGGAC	0.652000													17	11					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70777105	70777105	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:70777105G>C	ENST00000373719.3	+	11	1598	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	OGT_ENST00000373701.3_Missense_Mutation_p.D451H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	461					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACTTAAGCCTGATTTTCCTGA	0.383000													4	0					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021500	51021500	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:51021500C>T	ENST00000599957.1	-	3	1667	c.1470G>A	c.(1468-1470)gtG>gtA	p.V490V	LRRC4B_ENST00000389201.3_Silent_p.V490V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	490	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCTCCACGGTCACCGTGGTGA	0.741000													10	9					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78897445	78897445	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:78897445G>T	ENST00000306801.3	+	23	3142	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R769L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	927					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	p.R927L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCCGGACACGGAAGATGTTC	0.662000													12	8					1.5739e-10	1.64445e-10	1	1	0
SNRK	54861	broad.mit.edu	37	3	43389638	43389638	+	Silent	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:43389638C>G	ENST00000296088.7	+	7	2191	c.1887C>G	c.(1885-1887)ccC>ccG	p.P629P	SNRK_ENST00000454177.1_Silent_p.P629P|SNRK_ENST00000429705.2_Silent_p.P629P|SNRK_ENST00000437827.1_Silent_p.P423P	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	629					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTGCCGGCCCCAGCAACTCCA	0.647000													14	17					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67864421	67864421	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:67864421G>C	ENST00000562787.1	-	11	1282	c.734C>G	c.(733-735)tCt>tGt	p.S245C	CENPT_ENST00000564817.1_Missense_Mutation_p.S245C|CENPT_ENST00000219172.3_Missense_Mutation_p.S245C|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.S245C	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	245					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CATGGGCTGAGAGAACGGCTG	0.607000													5	39					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167016198	167016198	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:167016198G>C	ENST00000392766.2	-	18	2114	c.1774C>G	c.(1774-1776)Caa>Gaa	p.Q592E	ZBBX_ENST00000392767.2_Missense_Mutation_p.Q592E|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q563E|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q592E|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q592E	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	592						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAAGTCCTTGATATTGTTTT	0.299000													25	27					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046053	76046053	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:76046053G>A	ENST00000335749.4	+	3	1479	c.910G>A	c.(910-912)Gct>Act	p.A304T	TNRC6C_ENST00000541771.1_Missense_Mutation_p.A304T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A304T|TNRC6C_ENST00000588061.1_Missense_Mutation_p.A304T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A304T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A304T	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	304	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGGACCTCCTGCTGGTCCTGG	0.522000													25	22					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78897446	78897446	+	Silent	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:78897446G>T	ENST00000306801.3	+	23	3143	c.2781G>T	c.(2779-2781)cgG>cgT	p.R927R	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.R769R	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	927					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						CCCGGACACGGAAGATGTTCG	0.667000													12	8					1.5739e-10	1.64445e-10	1	1	0
SREK1	140890	broad.mit.edu	37	5	65466704	65466704	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:65466704A>C	ENST00000334121.6	+	9	1572	c.1413A>C	c.(1411-1413)agA>agC	p.R471S	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.R355S	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	355	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						ATGAAAAAAGAAAGAAGGATA	0.373000													29	35					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172480532	172480532	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:172480532A>G	ENST00000417960.1	+	10	1322	c.845A>G	c.(844-846)gAa>gGa	p.E282G	ECT2_ENST00000427830.1_Missense_Mutation_p.E283G|ECT2_ENST00000441497.2_Missense_Mutation_p.E283G|ECT2_ENST00000392692.3_Missense_Mutation_p.E314G|ECT2_ENST00000540509.1_Missense_Mutation_p.E314G|ECT2_ENST00000232458.5_Missense_Mutation_p.E283G	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	283	BRCT 2.				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)			CTTGTAGTTGAAGAGAATATA	0.343000													22	17					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52667618	52667618	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:52667618G>A	ENST00000399231.3	-	20	2703	c.2460C>T	c.(2458-2460)atC>atT	p.I820I	MYO5A_ENST00000553916.1_Silent_p.I820I|MYO5A_ENST00000399233.2_Silent_p.I820I|MYO5A_ENST00000358212.6_Silent_p.I820I|MYO5A_ENST00000356338.6_Silent_p.I820I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	820	IQ 3.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACTTTTGAATGATGGTTGCTG	0.433000													21	27					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475402	16475402	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:16475402G>A	ENST00000358432.5	-	3	448	c.294C>T	c.(292-294)ctC>ctT	p.L98L	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	98				IFIELK -> NNFELN (in Ref. 1; AAA53375).	activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAGTAAACTTGAGCTCAATGA	0.557000													32	40					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612434	54612434	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:54612434C>T	ENST00000302287.3	+	2	605	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	VSTM2A_ENST00000402613.3_Missense_Mutation_p.R67W|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R67W|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R66W|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R67W			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	67	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTGGTTCCTGCGGGGGCCGGA	0.721000													3	34					0	0	1	0	0
TRMT10B	158234	broad.mit.edu	37	9	37762036	37762036	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr9:37762036C>G	ENST00000297994.3	+	2	173	c.108C>G	c.(106-108)ttC>ttG	p.F36L	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377754.2_5'UTR|TRMT10B_ENST00000377753.2_Missense_Mutation_p.F36L|TRMT10B_ENST00000537911.1_Missense_Mutation_p.F36L	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)																		CTGAAGGCTTCCAGCTTCTGC	0.567000													3	21					0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43892837	43892837	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:43892837C>T	ENST00000450892.2	-	26	4965	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K	STRC_ENST00000541030.1_Missense_Mutation_p.E857K	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1630					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGTTGTTCCTCAGAGCACTGG	0.537000													20	19					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731413	57731413	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:57731413G>C	ENST00000281282.5	+	2	1294	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	406	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GTACCTGATTGAATTCAGTAG	0.542000													69	60					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91505673	91505673	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr10:91505673G>A	ENST00000416354.1	+	23	4215	c.4143G>A	c.(4141-4143)caG>caA	p.Q1381Q	KIF20B_ENST00000394289.2_Silent_p.Q1351Q|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.Q1351Q|KIF20B_ENST00000260753.4_Silent_p.Q1311Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1351					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TAAATAATCAGAAAGTGGAAG	0.348000													17	13					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113988282	113988282	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr8:113988282C>T	ENST00000297405.5	-	7	1370	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	CSMD3_ENST00000352409.3_Missense_Mutation_p.D376N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D336N|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	376						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAGTAACATCTGCAGGTGTG	0.488000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			49	34					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12461717	12461717	+	Silent	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:12461717C>G	ENST00000358136.3	+	62	11971	c.11841C>G	c.(11839-11841)ctC>ctG	p.L3947L	VPS13D_ENST00000356315.4_Silent_p.L3922L|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3946					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AACTGCTCCTCAAGCTGCTAA	0.393000													27	23					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12300318	12300318	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr12:12300318C>T	ENST00000261349.4	-	15	3455	c.3379G>A	c.(3379-3381)Gaa>Aaa	p.E1127K	LRP6_ENST00000543091.1_Missense_Mutation_p.E1127K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1127	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCACTGCTTTCAATTCGCCGG	0.393000													39	53					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76722316	76722316	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:76722316C>T	ENST00000264917.5	+	22	2640	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	PDE8B_ENST00000505283.1_Silent_p.Y330Y|PDE8B_ENST00000346042.3_Silent_p.Y768Y|PDE8B_ENST00000333194.4_Silent_p.Y810Y|PDE8B_ENST00000342343.4_Silent_p.Y845Y|PDE8B_ENST00000340978.3_Silent_p.Y818Y	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	865	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CTGACAACTACAAACACTGGA	0.483000													8	13					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43724829	43724829	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:43724829C>G	ENST00000263801.3	-	17	3475	c.3223G>C	c.(3223-3225)Gaa>Caa	p.E1075Q	TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1080Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1080Q|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1080Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1075					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCAATTTTTCTTTCTCCTCT	0.443000								Other conserved DNA damage response genes					20	30					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029219	25029219	+	Silent	SNP	G	G	A	rs7338591	by1000genomes	TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr13:25029219G>A	ENST00000381989.3	-	22	2799	c.2694C>T	c.(2692-2694)atC>atT	p.I898I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	898	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATGCAAGGCGATTTGCTTGG	0.522000													100	92					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713622	10713622	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:10713622G>A	ENST00000377022.3	-	11	2809	c.2492C>T	c.(2491-2493)tCa>tTa	p.S831L	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.S831L	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	831					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGGTGGCTGAGGCTGCTGA	0.706000													33	43					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145115049	145115049	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:145115049G>T	ENST00000367545.3	+	62	9000	c.9000G>T	c.(8998-9000)caG>caT	p.Q3000H	UTRN_ENST00000367526.4_Missense_Mutation_p.Q555H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3000	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGCCATCCAGATCCCCCGGC	0.507000													39	45					2.66277e-13	2.83094e-13	1	1	0
NR1I2	8856	broad.mit.edu	37	3	119529019	119529019	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:119529019G>A	ENST00000393716.2	+	3	2148	c.309G>A	c.(307-309)ctG>ctA	p.L103L	NR1I2_ENST00000466380.1_Silent_p.L103L|NR1I2_ENST00000337940.4_Silent_p.L142L	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	103					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCAAGTGCCTGGAGAGCGGCA	0.711000													8	16					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36930928	36930928	+	Silent	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:36930928G>T	ENST00000373674.3	+	5	1138	c.810G>T	c.(808-810)acG>acT	p.T270T	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	270						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTAGCAACGAAAGACCCGC	0.582000													59	58					2.30037e-20	2.50723e-20	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140348667	140348667	+	Silent	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:140348667C>G	ENST00000289269.5	+	1	2848	c.2316C>G	c.(2314-2316)ctC>ctG	p.L772L	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		772					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCATGGCCTCAAAGTGCAGC	0.522000													43	45					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32410688	32410688	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:32410688C>T	ENST00000332351.3	-	10	1754	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	WT1_ENST00000379079.2_Silent_p.Q275Q|WT1_ENST00000530998.1_Silent_p.Q261Q|WT1_ENST00000448076.3_Silent_p.Q487Q	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	422					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CAAACTTTTTCTGACAACTTG	0.502000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				44	39					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57579428	57579428	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr12:57579428C>T	ENST00000243077.3	+	41	7044	c.6578C>T	c.(6577-6579)tCg>tTg	p.S2193L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2193	EGF-like 9.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGGAGCATCGTGCCGCGAG	0.667000													21	24					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181479643	181479643	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:181479643C>T	ENST00000526775.1	+	2	462	c.297C>T	c.(295-297)atC>atT	p.I99I	CACNA1E_ENST00000367570.1_Silent_p.I99I|CACNA1E_ENST00000360108.3_Silent_p.I99I|CACNA1E_ENST00000358338.5_Silent_p.I50I|CACNA1E_ENST00000357570.5_Silent_p.I50I|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Silent_p.I99I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	99					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGCCACCATCATTGCCAACT	0.547000													36	32					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3477050	3477050	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:3477050G>A	ENST00000174621.6	-	12	2263	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	TRPV1_ENST00000399759.3_Silent_p.F660F|SHPK_ENST00000572705.1_Silent_p.F660F|TRPV1_ENST00000399756.4_Silent_p.F660F|TRPV1_ENST00000310522.5_Silent_p.F600F|TRPV1_ENST00000571088.1_Silent_p.F660F|TRPV1_ENST00000576351.1_Silent_p.F650F|TRPV1_ENST00000425167.2_Silent_p.F671F			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	660					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCAGGATGATGAAGACAGCCT	0.522000													26	29					0	0	1	0	0
FBXO33	254170	broad.mit.edu	37	14	39900843	39900843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:39900843G>T	ENST00000298097.7	-	1	861	c.524C>A	c.(523-525)tCa>tAa	p.S175*	FBXO33_ENST00000554190.1_Nonsense_Mutation_p.S47*	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	175										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CCAACGAGCTGAGAGCTGCAG	0.662000													20	30					1.50039e-11	1.57854e-11	1	1	0
TNRC6C	57690	broad.mit.edu	37	17	76047001	76047001	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:76047001G>C	ENST00000335749.4	+	3	2427	c.1858G>C	c.(1858-1860)Gat>Cat	p.D620H	TNRC6C_ENST00000541771.1_Missense_Mutation_p.D620H|TNRC6C_ENST00000588847.1_Missense_Mutation_p.D620H|TNRC6C_ENST00000588061.1_Missense_Mutation_p.D620H|TNRC6C_ENST00000544502.1_Missense_Mutation_p.D620H|TNRC6C_ENST00000301624.4_Missense_Mutation_p.D620H	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	620	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ATCTGGATGGGATGCTGACAG	0.512000													36	58					0	0	1	0	0
AP3S1	1176	broad.mit.edu	37	5	115249093	115249093	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:115249093C>T	ENST00000316788.7	+	6	1045	c.488C>T	c.(487-489)tCa>tTa	p.S163L	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	163					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CGTGCTGTATCAGCTGTAAAG	0.378000													27	56					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172579106	172579106	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:172579106T>A	ENST00000367723.4	+	23	4049	c.3925T>A	c.(3925-3927)Tat>Aat	p.Y1309N	SUCO_ENST00000608151.1_Missense_Mutation_p.Y1310N|SUCO_ENST00000263688.3_Missense_Mutation_p.Y1158N|SUCO_ENST00000610051.1_Missense_Mutation_p.Y787N	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		TCACTCTTCTTATAAAGGTCC	0.418000													117	54					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67423838	67423838	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:67423838G>T	ENST00000357692.2	+	6	585	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	MIER1_ENST00000355977.6_Nonsense_Mutation_p.E30*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.E110*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.E146*|MIER1_ENST00000371018.3_Nonsense_Mutation_p.E110*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371014.1_Nonsense_Mutation_p.E146*|MIER1_ENST00000355356.3_Nonsense_Mutation_p.E93*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.E93*	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	117	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						agaagaggaagaagaaggtga	0.383000													20	24					6.44725e-10	6.71312e-10	1	1	0
LMAN2L	81562	broad.mit.edu	37	2	97403783	97403783	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:97403783G>A	ENST00000264963.4	-	2	231	c.209C>T	c.(208-210)tCa>tTa	p.S70L	LMAN2L_ENST00000377079.4_Missense_Mutation_p.S70L|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000534882.1_Intron	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	70	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ATTCCACAGTGAGGAACTGCC	0.498000													17	19					0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907682	103907682	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:103907682G>T	ENST00000302259.3	+	1	375	c.132G>T	c.(130-132)gaG>gaT	p.E44D	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	44	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGTCGAAGAGATCCAGATCA	0.567000													83	1					4.63251e-29	5.12281e-29	1	1	0
BLM	641	broad.mit.edu	37	15	91312729	91312729	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:91312729C>G	ENST00000355112.3	+	12	2586	c.2468C>G	c.(2467-2469)tCt>tGt	p.S823C	BLM_ENST00000560509.1_Missense_Mutation_p.S823C|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	823	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	p.S823F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAGTTTCCTTCTGTTCCGGTG	0.438000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				34	31					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44913136	44913136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:44913136C>T	ENST00000377967.4	+	10	852	c.811C>T	c.(811-813)Cag>Tag	p.Q271*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q271*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q271*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q271*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	271					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(4)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTATGCTATTCAGTATCTCCA	0.388000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								64	0					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119132712	119132712	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:119132712G>A	ENST00000264245.4	+	12	2468	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	646					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGATGAAGATGATCTGGCCAA	0.473000													52	47					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98628963	98628963	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr13:98628963G>A	ENST00000261574.5	+	4	247	c.67G>A	c.(67-69)Gcg>Acg	p.A23T	IPO5_ENST00000539640.1_Missense_Mutation_p.A5T|IPO5_ENST00000490680.1_Missense_Mutation_p.A5T	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	5					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						GGCGGCGGCCGCGGCGGAGCA	0.701000													9	9					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43892750	43892750	+	Silent	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:43892750C>G	ENST00000562955.1	+	23	3162	c.3162C>G	c.(3160-3162)ctC>ctG	p.L1054L	SZT2_ENST00000372442.1_Silent_p.L212L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1111						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGAAACTCTCAAGCCTCTCA	0.507000													61	82					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69369012	69369012	+	Silent	SNP	G	G	A	rs147094162		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:69369012G>A	ENST00000306875.4	-	3	939	c.825C>T	c.(823-825)atC>atT	p.I275I	COG8_ENST00000562081.1_Silent_p.I275I|RP11-343C2.9_ENST00000563634.1_Silent_p.I150I	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	275					protein transport	Golgi membrane|Golgi transport complex		p.I275I(1)		breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						GGGAGGCCTCGATGGTTTTTG	0.527000													20	20					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133799	55133799	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:55133799G>C	ENST00000257290.5	+	7	1343	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	338	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E338Q(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTTTGTTGTAGAGGTGCGGGC	0.448000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			37	32					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707924	50707924	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:50707924C>T	ENST00000330943.4	-	4	515	c.344G>A	c.(343-345)cGg>cAg	p.R115Q	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	115	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGAATAGCGCCGTTCCAGGAC	0.577000													21	37					0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134435	71134435	+	Silent	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:71134435G>C	ENST00000256367.2	+	2	904	c.561G>C	c.(559-561)ctG>ctC	p.L187L		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	187							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		TCTACTACCTGAAAGAAGCAA	0.502000													75	81					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41906383	41906383	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr8:41906383G>A	ENST00000396930.3	-	3	656	c.113C>T	c.(112-114)tCa>tTa	p.S38L	KAT6A_ENST00000406337.1_Missense_Mutation_p.S38L|KAT6A_ENST00000485568.1_Missense_Mutation_p.S38L|KAT6A_ENST00000265713.2_Missense_Mutation_p.S38L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	38	Required for activation of RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GCCATGGGATGAAGACACAGC	0.378000													71	72					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49716301	49716301	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:49716301C>T	ENST00000296456.5	+	12	1477	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	APEH_ENST00000438011.1_Silent_p.I359I	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	359					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTCTGGGATCTACTGCAGCC	0.567000													42	72					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8639294	8639294	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr20:8639294G>C	ENST00000378641.3	+	9	1280	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	PLCB1_ENST00000378637.2_Missense_Mutation_p.E269Q|PLCB1_ENST00000338037.6_Missense_Mutation_p.E269Q	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	269					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTAAAACAAGAGCAAGTCCA	0.403000													52	51					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753087	49753087	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:49753087C>T	ENST00000327697.6	+	32	3234	c.3090C>T	c.(3088-3090)ctC>ctT	p.L1030L	RNF123_ENST00000433785.1_Silent_p.L142L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1030						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCAGCTTCCTCAACAGCGTCC	0.617000													25	23					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124839545	124839545	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:124839545G>C	ENST00000430155.2	-	1	153	c.125C>G	c.(124-126)tCt>tGt	p.S42C	SLC12A8_ENST00000393469.4_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000469902.1_Intron|SLC12A8_ENST00000314584.7_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	0					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						AAGACACCCAGATGGGGAATG	0.667000													15	12					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090515	91090515	+	Missense_Mutation	SNP	G	G	T	rs144734965	byFrequency	TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:91090515G>T	ENST00000373094.1	+	1	857	c.12G>T	c.(10-12)ttG>ttT	p.L4F	PCDH11X_ENST00000395337.2_Missense_Mutation_p.L4F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.L4F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.L4F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.L4F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.L4F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.L4F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.L4F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.L4F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	4					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGGACTTGTTGTCCGGGACGT	0.468000													44	1					1.02591e-13	1.09454e-13	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220497089	220497089	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:220497089G>A	ENST00000358055.3	+	8	1578	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E383K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E356K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E356K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E383K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	356					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGAGACGGAGCGCTGGGG	0.667000													20	19					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58112024	58112024	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr12:58112024G>C	ENST00000315970.7	+	11	1271	c.1230G>C	c.(1228-1230)caG>caC	p.Q410H	OS9_ENST00000413095.2_Missense_Mutation_p.Q204H|OS9_ENST00000257966.8_Missense_Mutation_p.Q411H|OS9_ENST00000552285.1_Missense_Mutation_p.Q410H|OS9_ENST00000389142.5_Missense_Mutation_p.Q410H|OS9_ENST00000389146.6_Missense_Mutation_p.Q410H|OS9_ENST00000439210.2_Missense_Mutation_p.Q351H|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.Q378H|OS9_ENST00000435406.2_Missense_Mutation_p.Q358H	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	410					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGAACGGCagagagagatgg	0.522000													7	49					0	0	1	0	0
CAPS	828	broad.mit.edu	37	19	5915332	5915332	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:5915332G>A	ENST00000588776.1	+	5	3194	c.827G>A	c.(826-828)tGa>tAa	p.*276*	CAPS_ENST00000222125.5_Silent_p.*190*|CAPS_ENST00000452990.2_Silent_p.*163*			Q13938	CAYP1_HUMAN	calcyphosine	0					intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						TGGCAGCTGTGAGCAGCTCCG	0.647000													12	14					0	0	1	0	0
SYCN	342898	broad.mit.edu	37	19	39694508	39694508	+	Silent	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:39694508G>C	ENST00000318438.6	-	1	398	c.387C>G	c.(385-387)ctC>ctG	p.L129L		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	129					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACCTGCAGTAGAGCGCGGAGA	0.692000													10	12					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	517379	517379	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:517379G>A	ENST00000453061.2	+	9	1852	c.1746G>A	c.(1744-1746)gtG>gtA	p.V582V	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.V449V|PIGG_ENST00000504346.1_Silent_p.V493V|PIGG_ENST00000310340.5_Silent_p.V574V	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	582					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ACTTCCTTGTGAACACCCTGT	0.567000													75	79					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43122261	43122261	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:43122261C>T	ENST00000267890.6	-	5	415	c.307G>A	c.(307-309)Gat>Aat	p.D103N	TTBK2_ENST00000567840.1_Missense_Mutation_p.D103N|TTBK2_ENST00000567274.1_Missense_Mutation_p.D103N	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	103	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CGGCGAAGATCTGCCAGATTC	0.423000													13	26					0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3659645	3659645	+	RNA	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:3659645G>A	ENST00000452079.1	-	0	1825				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						TAGGGAAGCCGGAGAGGCCGC	0.587000													4	8					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42540364	42540364	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr21:42540364C>G	ENST00000347667.5	+	1	637	c.174C>G	c.(172-174)gaC>gaG	p.D58E	BACE2_ENST00000328735.6_Missense_Mutation_p.D58E|BACE2_ENST00000330333.6_Missense_Mutation_p.D58E	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GCCACGCCGACGGCTTGGCGC	0.766000													3	3					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62708640	62708640	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr12:62708640G>A	ENST00000280377.5	+	4	476	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	USP15_ENST00000393654.3_Missense_Mutation_p.E140K|USP15_ENST00000312635.6_Missense_Mutation_p.E140K|USP15_ENST00000353364.3_Missense_Mutation_p.E140K|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	140					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAAGCTATGTGAAAATGGAAA	0.333000													69	94					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117241907	117241907	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:117241907C>T	ENST00000278935.3	+	9	1024	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	293					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AGACAGCAGTCTGAGCAGTGC	0.532000													72	2					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42922645	42922645	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:42922645G>A	ENST00000372561.3	+	1	416	c.409G>A	c.(409-411)Gag>Aag	p.E137K	PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.E137K|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	137					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCTACCAGGAGGCTGCGGC	0.627000													45	58					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259013	89259013	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:89259013G>A	ENST00000336596.2	+	3	382	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E53K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E53K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	53						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCTTCAGTGGGAAGAGATCAG	0.403000										TSP Lung(6;0.00050)			8	11					0	0	1	0	0
ARL4D	379	broad.mit.edu	37	17	41477292	41477292	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:41477292C>T	ENST00000320033.4	+	2	399	c.192C>T	c.(190-192)ctC>ctT	p.L64L		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	64					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GGGTGCCCCTCGGGGGATCGC	0.607000													31	38					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90965789	90965789	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr8:90965789C>G	ENST00000265433.3	-	11	1682	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	NBN_ENST00000409330.1_Missense_Mutation_p.E428Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	510					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGCTCATTCTCAGATAGATGC	0.363000								Homologous recombination					21	19					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441379	149441379	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:149441379C>T	ENST00000286301.3	-	12	1951	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	554					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCATAGCTCTCGATGATCTTC	0.557000													76	81					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62775457	62775457	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:62775457G>A	ENST00000512091.2	+	11	2610	c.1863G>A	c.(1861-1863)ttG>ttA	p.L621L	LPHN3_ENST00000514591.1_Silent_p.L621L|LPHN3_ENST00000507625.1_Silent_p.L689L|LPHN3_ENST00000506746.1_Silent_p.L689L|LPHN3_ENST00000511324.1_Silent_p.L689L|LPHN3_ENST00000509896.1_Silent_p.L689L|LPHN3_ENST00000508946.1_Silent_p.L621L|LPHN3_ENST00000508693.1_Silent_p.L689L|LPHN3_ENST00000507164.1_Silent_p.L689L|LPHN3_ENST00000514996.1_Silent_p.L621L|LPHN3_ENST00000506720.1_Silent_p.L689L|LPHN3_ENST00000506700.1_Silent_p.L621L|LPHN3_ENST00000504896.1_Silent_p.L621L|LPHN3_ENST00000514157.1_Silent_p.L621L|LPHN3_ENST00000545650.1_Silent_p.L621L			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCCGGAGTTTGAACAAGGTAA	0.478000													4	1					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718440	103718440	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr13:103718440C>G	ENST00000245312.3	-	1	756	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	54					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCTTGATTTCCACGTTGCAT	0.488000													63	98					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184175148	184175148	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:184175148G>A	ENST00000403733.3	+	9	1391	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	WWC2_ENST00000504005.1_Missense_Mutation_p.E80K|WWC2_ENST00000378925.3_Missense_Mutation_p.E300K|WWC2_ENST00000448232.2_Missense_Mutation_p.E398K|WWC2_ENST00000513834.1_Missense_Mutation_p.E398K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	398										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGCTCTGGCCGAGAGGTTTGT	0.478000													8	14					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202391784	202391784	+	Silent	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:202391784C>G	ENST00000608999.1	+	3	612	c.459C>G	c.(457-459)gtC>gtG	p.V153V	PPP1R12B_ENST00000480184.1_Silent_p.V153V|PPP1R12B_ENST00000356764.2_Silent_p.V153V|PPP1R12B_ENST00000336894.4_Silent_p.V153V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAGGTATTGTCAATAGTGAAG	0.413000													95	38					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33056197	33056197	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr9:33056197G>A	ENST00000397149.3	-	9	1086	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	SMU1_ENST00000536631.1_Missense_Mutation_p.R185C	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	346						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		GAATGGCCACGAAATTCCTTC	0.338000													14	0					0	0	1	0	0
GNL3L	54552	broad.mit.edu	37	X	54578063	54578063	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:54578063C>G	ENST00000336470.4	+	11	1065	c.926C>G	c.(925-927)cCa>cGa	p.P309R	GNL3L_ENST00000360845.2_Missense_Mutation_p.P309R	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	309	G.				ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GGCATTGTCCCAGGGCCCAAC	0.602000													8	13					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775808	234775808	+	RNA	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:234775808C>T	ENST00000438684.1	-	0	306					NR_024322.1																						TTCAGAACTTCAGGGATTTCT	0.398000													14	16					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982377	201982377	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:201982377G>T	ENST00000359651.3	+	6	3948	c.756G>T	c.(754-756)aaG>aaT	p.K252N	ELF3_ENST00000367283.3_Missense_Mutation_p.K252N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.K252N			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	252					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCCCGAAAGCTGAGCAAAG	0.642000													103	39					2.59407e-49	2.91113e-49	1	1	0
SREK1	140890	broad.mit.edu	37	5	65466703	65466703	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:65466703G>T	ENST00000334121.6	+	9	1571	c.1412G>T	c.(1411-1413)aGa>aTa	p.R471I	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.R355I	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	355	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GATGAAAAAAGAAAGAAGGAT	0.373000													29	37					2.20262e-25	2.42689e-25	1	1	0
DOPEY1	23033	broad.mit.edu	37	6	83847489	83847489	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:83847489G>A	ENST00000349129.2	+	21	3988	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1234E|DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1224E|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1243					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTATTTCAGGAACCACACAC	0.413000													34	37					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45132759	45132759	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:45132759G>C	ENST00000403581.1	+	10	1477	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|PRR5_ENST00000006251.7_Missense_Mutation_p.E258Q|ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.E267Q	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCAGGAGCACGAGGCGGAGGG	0.711000													13	60					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150676602	150676602	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:150676602G>T	ENST00000368993.2	-	12	1045	c.940C>A	c.(940-942)Cat>Aat	p.H314N	HORMAD1_ENST00000368995.4_Missense_Mutation_p.H234N|HORMAD1_ENST00000361824.2_Missense_Mutation_p.H314N|HORMAD1_ENST00000322343.7_Missense_Mutation_p.H307N			Q86X24	HORM1_HUMAN	HORMA domain containing 1	314					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACCTGAGAATGAGAAATAGAA	0.308000													6	9					0.000157383	0.000160563	1	1	0
GPR75	10936	broad.mit.edu	37	2	54080762	54080762	+	Missense_Mutation	SNP	G	G	A	rs150401369		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:54080762G>A	ENST00000394705.2	-	2	1402	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	378						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACTGTTCCGAGAATATATA	0.428000													36	46					0	0	1	0	0
C20orf144	128864	broad.mit.edu	37	20	32251455	32251455	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr20:32251455G>A	ENST00000375222.3	+	2	306	c.244G>A	c.(244-246)Gga>Aga	p.G82R	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	82										lung(1)	1						CAGATTGCGCGGAGCGGGCGA	0.741000													3	31					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105517355	105517355	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:105517355C>G	ENST00000329797.3	-	4	2030	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	GPR132_ENST00000539291.2_Missense_Mutation_p.K373N|GPR132_ENST00000392585.2_Missense_Mutation_p.K364N	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	373					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CAATCAGCCTCTTTGCAGGGC	0.647000													30	32					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104176714	104176714	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr10:104176714C>T	ENST00000020673.5	-	2	608	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.E28K	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	28	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACCGGGCCTTCGGGGAGCCAG	0.706000													22	31					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924672	105924672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:105924672G>T	ENST00000393359.2	-	2	513	c.87C>A	c.(85-87)tgC>tgA	p.C29*	TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.C29*			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	29	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCACTCCACGCACTCTATGT	0.592000													25	32					5.45024e-15	5.83542e-15	1	1	0
CORIN	10699	broad.mit.edu	37	4	47605626	47605626	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:47605626G>A	ENST00000273857.4	-	20	2599	c.2600C>T	c.(2599-2601)tCa>tTa	p.S867L	CORIN_ENST00000505909.1_Missense_Mutation_p.S830L|CORIN_ENST00000502252.1_Missense_Mutation_p.S800L|CORIN_ENST00000508498.1_Missense_Mutation_p.S728L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	867	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CATGAACACTGATGGATGGTC	0.448000													15	16					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793634	215793634	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:215793634G>A	ENST00000259154.4	+	18	2416	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	708						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TAATATATCTGAGAGAAAGTC	0.373000													9	103					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73047437	73047437	+	RNA	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:73047437G>A	ENST00000604411.1	+	0	35398				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCAGAAAAAAGGTGAAATTTA	0.408000													12	0					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026425	182026425	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:182026425C>T	ENST00000339948.3	-	2	928	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TCTCCGCCCTCGCGCCGGCCC	0.731000													16	8					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71003884	71003884	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:71003884G>C	ENST00000357250.6	-	5	840	c.682C>G	c.(682-684)Caa>Gaa	p.Q228E	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q228E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	228	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACAGAAACTTGAGGATTATCT	0.373000													55	53					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944133	74944133	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:74944133C>A	ENST00000569840.2	+	17	2719	c.2145C>A	c.(2143-2145)ttC>ttA	p.F715L	MGAT5B_ENST00000428789.2_Missense_Mutation_p.F724L|MGAT5B_ENST00000301618.4_Missense_Mutation_p.F713L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	715						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTCCTTCTTCCCCTTCC	0.687000													15	16					3.45872e-05	3.55251e-05	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228162408	228162408	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:228162408G>A	ENST00000396578.3	+	42	3746	c.3584G>A	c.(3583-3585)gGa>gAa	p.G1195E	AC097662.2_ENST00000439598.2_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1195	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGACAGGGGAGCCCCAGGT	0.512000													5	14					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207319	58207319	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr13:58207319G>A	ENST00000377918.3	+	1	665	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	213	Cadherin 2.				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)		CGCTCGTGCTGACTGCCCTGG	0.602000													22	38					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70904988	70904988	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:70904988C>T	ENST00000264436.4	-	12	1849	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	ADD2_ENST00000407644.2_Missense_Mutation_p.E469K|ADD2_ENST00000413157.2_Missense_Mutation_p.E469K|ADD2_ENST00000430656.1_Missense_Mutation_p.E485K|ADD2_ENST00000355733.3_Missense_Mutation_p.E469K	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CTGGATTTCTCCACCTCGTCA	0.542000													35	25					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35620734	35620734	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:35620734G>C	ENST00000353139.5	-	11	1664	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	ACACA_ENST00000335166.5_Missense_Mutation_p.L280V|ACACA_ENST00000360679.3_Missense_Mutation_p.L300V|ACACA_ENST00000394406.2_Missense_Mutation_p.L358V	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	358	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCACCTCCAGATGACGAGAT	0.418000													57	50					0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19135780	19135780	+	Silent	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:19135780G>T	ENST00000601879.1	-	3	1674	c.1377C>A	c.(1375-1377)ctC>ctA	p.L459L	SUGP2_ENST00000456085.2_Silent_p.L228L|SUGP2_ENST00000600377.1_Silent_p.L473L|SUGP2_ENST00000452918.2_Silent_p.L459L|SUGP2_ENST00000337018.6_Silent_p.L459L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	459					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGGGGTTACTGAGGGTCTTCA	0.493000													40	224					8.00217e-19	8.65949e-19	1	1	0
SMG7	9887	broad.mit.edu	37	1	183486953	183486953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:183486953C>T	ENST00000367537.3	+	5	592	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q104*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q104*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q62*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q62*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q104*			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	104					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTTCTATACTCAGGTGAGTTC	0.413000													81	53					0	0	1	0	0
SLC23A3	151295	broad.mit.edu	37	2	220033800	220033800	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:220033800C>A	ENST00000455516.2	-	4	514	c.467G>T	c.(466-468)aGg>aTg	p.R156M	SLC23A3_ENST00000396775.3_Missense_Mutation_p.R90M|SLC23A3_ENST00000295738.7_Missense_Mutation_p.R148M|SLC23A3_ENST00000409878.3_Missense_Mutation_p.R148M	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	148					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTAGGTCCCCTACAAAGGTG	0.577000													21	35					2.21704e-12	2.34063e-12	1	1	0
METRN	79006	broad.mit.edu	37	16	767324	767324	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:767324C>T	ENST00000568223.2	+	4	994	c.819C>T	c.(817-819)ttC>ttT	p.F273F	METRN_ENST00000568415.1_Silent_p.F140F	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	273										skin(1)	1		Hepatocellular(780;0.00335)				TCCAGGAGTTCCGCCGTGCCT	0.716000													6	2					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417335	113417335	+	Missense_Mutation	SNP	G	G	A	rs142437239		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:113417335G>A	ENST00000272542.3	+	8	2142	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	535					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCAATGACGTAAGGTCAGT	0.458000													4	112					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739325	26739325	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:26739325C>A	ENST00000272371.2	-	5	596	c.470G>T	c.(469-471)cGg>cTg	p.R157L	OTOF_ENST00000403946.3_Missense_Mutation_p.R157L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	157					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCTGGGCCGGGAGCCTGG	0.637000													74	92					8.80465e-56	9.91751e-56	1	1	0
PURA	5813	broad.mit.edu	37	5	139494643	139494643	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:139494643G>A	ENST00000331327.3	+	1	936	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	293	Gln/Glu-rich (part of the transcriptional activation domain).				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCCTGTGagcagcttca	0.567000													15	23					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48578164	48578164	+	Silent	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr4:48578164C>A	ENST00000537810.1	-	24	3208	c.2604G>T	c.(2602-2604)ctG>ctT	p.L868L	FRYL_ENST00000358350.4_Silent_p.L868L|FRYL_ENST00000507711.1_Silent_p.L868L|FRYL_ENST00000503238.1_Silent_p.L868L|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGCAAAGGATCAGATAGTTTC	0.463000													44	54					3.43241e-23	3.75459e-23	1	1	0
DSEL	92126	broad.mit.edu	37	18	65179976	65179976	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr18:65179976T>C	ENST00000310045.7	-	2	3373	c.1900A>G	c.(1900-1902)Atg>Gtg	p.M634V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	624						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACATCCATCATGGCACCATTA	0.363000													26	33					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754486	31754486	+	RNA	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:31754486C>A	ENST00000405650.1	-	0	754				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TCAATGATCTCACCGAGGAAA	0.463000													7	44					0.248553	0.249376	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21775318	21775318	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:21775318G>C	ENST00000328843.6	+	47	7553	c.7522G>C	c.(7522-7524)Gag>Cag	p.E2508Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.E2501Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2508	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTGTTGCTTGAGAAAGGAAA	0.418000									Kartagener syndrome				6	7					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44528142	44528142	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr20:44528142C>G	ENST00000542937.1	-	14	1912	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	PLTP_ENST00000420868.2_Missense_Mutation_p.E345Q|PLTP_ENST00000372431.3_Missense_Mutation_p.E440Q|PLTP_ENST00000354050.4_Missense_Mutation_p.E388Q|PLTP_ENST00000372420.1_Missense_Mutation_p.E352Q|PLTP_ENST00000477313.1_Missense_Mutation_p.E440Q			P55058	PLTP_HUMAN	phospholipid transfer protein	440					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TTGATGCCCTCAGGTAGTGGG	0.632000													7	77					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913380	35913380	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr17:35913380G>A	ENST00000339208.6	-	14	2585	c.2445C>T	c.(2443-2445)ctC>ctT	p.L815L	SYNRG_ENST00000345615.4_Silent_p.L737L|SYNRG_ENST00000591288.1_Silent_p.L654L|SYNRG_ENST00000585472.1_Silent_p.L736L|SYNRG_ENST00000502449.2_Silent_p.L737L|SYNRG_ENST00000394378.2_Silent_p.L737L|SYNRG_ENST00000346661.4_Silent_p.L815L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	815					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAATGGAAGGGAGATCTAAGG	0.463000													44	38					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170395314	170395314	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:170395314C>T	ENST00000523189.1	+	14	1807	c.1643C>T	c.(1642-1644)gCa>gTa	p.A548V		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	548					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATAGAGCTTGCAATTCTGTGG	0.338000			T	TRD@	ALL								10	38					0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1254936	1254936	+	Silent	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:1254936C>A	ENST00000300952.2	+	6	1247	c.732C>A	c.(730-732)gcC>gcA	p.A244A	MIDN_ENST00000591446.2_Silent_p.A244A	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	244						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCAGCAGTGCCAGTCCTGGTG	0.672000													4	151					0.014758	0.0149554	1	1	0
ABHD16A	7920	broad.mit.edu	37	6	31655485	31655485	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:31655485C>T	ENST00000375842.4	-	18	1809	c.823G>A	c.(823-825)Gac>Aac	p.D275N	ABHD16A_ENST00000395952.3_Missense_Mutation_p.D494N|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.D461N|ABHD16A_ENST00000471644.1_5'UTR			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	494						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGACACCAGTCCTCTTCCACC	0.627000													33	32					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651433	6651433	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:6651433G>A	ENST00000299441.3	-	10	5003	c.4592C>T	c.(4591-4593)tCa>tTa	p.S1531L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1531	Cadherin 14.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACGCGCGCTGAAACGCGCGC	0.731000													9	9					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241969806	241969806	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:241969806G>C	ENST00000310397.8	+	2	319	c.319G>C	c.(319-321)Gat>Cat	p.D107H	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.D107H|SNED1_ENST00000405547.3_Missense_Mutation_p.D107H|SNED1_ENST00000342631.6_Missense_Mutation_p.D107H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	107	NIDO.				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)		CTTCTGGGCAGATGTGGACAA	0.632000													19	17					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120389340	120389340	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:120389340G>A	ENST00000283871.5	-	4	675	c.216C>T	c.(214-216)ccC>ccT	p.P72P	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	72					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGATTCAAAGGGCTTGTGAG	0.418000													41	55					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647365	20647365	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:20647365G>A	ENST00000272233.4	+	1	531	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	47					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GGCCGACATTGAGGTGGACGG	0.647000													32	32					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52773484	52773484	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr8:52773484C>T	ENST00000360540.5	-	3	634	c.228G>A	c.(226-228)ttG>ttA	p.L76L	PCMTD1_ENST00000521344.1_Silent_p.L76L|PCMTD1_ENST00000522514.1_Silent_p.L76L|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000544451.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	76						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTTGAAGTTTCAATGCTTCCA	0.373000													24	35					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190976	53190976	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr16:53190976C>T	ENST00000566029.1	+	2	1184	c.975C>T	c.(973-975)atC>atT	p.I325I	CHD9_ENST00000447540.1_Silent_p.I325I|CHD9_ENST00000564845.1_Silent_p.I325I|CHD9_ENST00000398510.3_Silent_p.I325I			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	325					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTCAGCATATCCTAAACCCCA	0.328000													13	9					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36634789	36634789	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr20:36634789G>A	ENST00000373448.2	-	4	2551	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	TTI1_ENST00000449821.1_Silent_p.F771F|TTI1_ENST00000373447.3_Silent_p.F771F	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	771							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CTGTGTCTGGGAACCACTGGG	0.463000													26	33					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43266372	43266372	+	Silent	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:43266372C>T	ENST00000372585.5	+	1	371	c.276C>T	c.(274-276)acC>acT	p.T92T	SLC22A7_ENST00000372589.3_Silent_p.T92T|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Silent_p.T92T	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	92						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCCCAACACCACGTTGGGGG	0.627000													21	22					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58298981	58298981	+	Silent	SNP	C	C	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr13:58298981C>A	ENST00000377918.3	+	4	3059	c.3033C>A	c.(3031-3033)ctC>ctA	p.L1011L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1011					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)		ACACTATTCTCATTGCCAACG	0.463000													40	51					1.69901e-12	1.8e-12	1	1	0
ABHD1	84696	broad.mit.edu	37	2	27346903	27346903	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:27346903G>C	ENST00000316470.4	+	1	201	c.87G>C	c.(85-87)ttG>ttC	p.L29F		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	29						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCTACTTGGGCTACTACT	0.632000													29	31					0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3659646	3659646	+	RNA	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:3659646G>A	ENST00000452079.1	-	0	1824				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1																						AGGGAAGCCGGAGAGGCCGCC	0.582000													4	8					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108175420	108175420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr11:108175420C>T	ENST00000278616.4	+	37	5900	c.5515C>T	c.(5515-5517)Cag>Tag	p.Q1839*	ATM_ENST00000452508.2_Nonsense_Mutation_p.Q1839*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1839					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGACTTTTGTCAGACTGTACT	0.313000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	0					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36207490	36207490	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:36207490G>T	ENST00000392197.2	+	7	1618	c.1300G>T	c.(1300-1302)Ggg>Tgg	p.G434W	ZBTB32_ENST00000262630.3_Missense_Mutation_p.G434W			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	434					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCCTGTGCGGGGCCGGCTG	0.682000											OREG0025433	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	67	62					8.77104e-35	9.77069e-35	1	1	0
LOC101929735	101929735	broad.mit.edu	37	14	22934819	22934819	+	RNA	SNP	G	G	C	rs147755993	by1000genomes	TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr14:22934819G>C	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA																							TCCTACAAGTGATACACTTTG	0.368000													15	14					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255496	16255496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:16255496C>T	ENST00000375759.3	+	11	2965	c.2761C>T	c.(2761-2763)Cag>Tag	p.Q921*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	921					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCAGGTCTCTCAGACGGAGCC	0.448000													68	216					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899166	133899166	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr8:133899166G>A	ENST00000220616.4	+	9	1589	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	TG_ENST00000377869.1_Missense_Mutation_p.D517N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	517					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACAAGAAGATTTGGCCAA	0.453000													24	30					0	0	1	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226678	152226678	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:152226678T>A	ENST00000243347.3	+	4	614	c.539T>A	c.(538-540)tTt>tAt	p.F180Y		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	180	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTTTAGATTTTGACCTTGAA	0.428000													78	102					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73676236	73676236	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:73676236C>G	ENST00000264448.6	+	8	2690	c.2579C>G	c.(2578-2580)tCt>tGt	p.S860C	ALMS1_ENST00000377715.1_Missense_Mutation_p.S860C|ALMS1_ENST00000409009.1_Missense_Mutation_p.S818C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	860	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTGCGTCCTCTTCACTTGGA	0.488000													35	52					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21133729	21133729	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:21133729G>A	ENST00000215727.5	+	2	412	c.129G>A	c.(127-129)gaG>gaA	p.E43E	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.E43E	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	43					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCCAGTGGGAGCAGTTAAATA	0.537000													14	18					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10910336	10910336	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr21:10910336C>T	ENST00000298232.7	-	21	1733	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D436N|TPTE_ENST00000361285.4_Missense_Mutation_p.D474N	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	474	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCACATCATCATACAGAGGT	0.343000													24	126					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694610	141694610	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:141694610G>C	ENST00000344120.4	-	3	319	c.133C>G	c.(133-135)Ctt>Gtt	p.L45V	SPRY4_ENST00000434127.2_Missense_Mutation_p.L22V	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	22					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTGTCAAGAAGGGGCTGG	0.592000									Testicular Cancer, Familial Clustering of				23	26					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5254976	5254976	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr10:5254976G>C	ENST00000380448.1	+	9	953	c.700G>C	c.(700-702)Gtt>Ctt	p.V234L	AKR1C4_ENST00000263126.1_Missense_Mutation_p.V234L			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	234					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AAACTCCCCAGTTCTTTTGGA	0.522000													13	15					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123171455	123171455	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:123171455C>T	ENST00000371160.1	+	6	657	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q54*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q123*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q123*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q123*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q123*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	123					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTTTTATTCAGTGTTCAGG	0.358000													36	1					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164452	12164452	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:12164452G>C	ENST00000263932.2	+	4	507	c.285G>C	c.(283-285)aaG>aaC	p.K95N	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	95					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGAGAAGACGCCGTGTG	0.582000													13	72					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436760	6436760	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr12:6436760G>A	ENST00000449001.2	+	14	2409	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PLEKHG6_ENST00000304581.8_Missense_Mutation_p.E201K|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E671K|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E671K	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	671					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GTCTGAGGAAGAAGATGGGGC	0.632000													5	15					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989725	15989725	+	Silent	SNP	G	G	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:15989725G>A	ENST00000221700.6	-	13	1514	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGCCATCGCGAACGTCTGCC	0.672000													35	42					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895629	16895630	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr1:16895629_16895630delAG	ENST00000430580.2	-	23	3439_3440	c.2552_2553delCT	c.(2551-2553)tctfs	p.S851fs	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	851	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGCCGCTGTAAGACTTGTACGA	0.485													37	771	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	-	G			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr2:54167139_54167140insG	ENST00000404125.1	-	4	556		c.e4-2		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347													8	161	---	---	---	---					
FAM131A	131408	broad.mit.edu	37	3	184059921	184059922	+	Frame_Shift_Ins	INS	-	-	CTCATTG			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr3:184059921_184059922insCTCATTG	ENST00000310585.4	+	1	1664_1665	c.300_301insCTCATTG	c.(301-303)ctcfs	p.-101fs	FAM131A_ENST00000418281.1_Frame_Shift_Ins_p.-9fs|FAM131A_ENST00000450976.1_Frame_Shift_Ins_p.-47fs|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Frame_Shift_Ins_p.-47fs|FAM131A_ENST00000383847.2_Frame_Shift_Ins_p.-132fs|FAM131A_ENST00000340957.5_Frame_Shift_Ins_p.-47fs			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGTGGCTCACCTCATTGAGTG	0.594													47	157	---	---	---	---					
SREK1	140890	broad.mit.edu	37	5	65466696	65466696	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr5:65466696delG	ENST00000334121.6	+	9	1564	c.1405delG	c.(1405-1407)gaafs	p.E469fs	SREK1_ENST00000380918.3_Frame_Shift_Del_p.E353fs|SREK1_ENST00000284041.3_3'UTR	NM_001077199.2|NM_001270492.1	NP_001070667.1|NP_001257421.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	353	Arg/Glu/Lys/Ser-rich.				mRNA processing|RNA splicing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGAGATAGATGAAAAAAGAAA	0.388													34	40	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651944	36651944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:36651944delC	ENST00000405375.1	+	2	301	c.66delC	c.(64-66)ttcfs	p.F22fs	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.F22fs|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.F56fs|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.F22fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	22	Required for binding cyclins.				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCCGCCTCTTCGGCCCAGTGG	0.642													23	31	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87970330	87970331	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr6:87970330_87970331insA	ENST00000369577.3	+	8	7026_7027	c.6983_6984insA	c.(6982-6987)ataaaafs	p.IK2328fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.IK2323fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2328					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)		AAGGAAGGAATAAAAATGCCCA	0.371													12	44	---	---	---	---					
BHLHA15	168620	broad.mit.edu	37	7	97842081	97842083	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr7:97842081_97842083delCAG	ENST00000609256.1	+	2	586_588	c.460_462delCAG	c.(460-462)cagdel	p.Q158del	BHLHA15_ENST00000314018.2_In_Frame_Del_p.Q158del			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CCAGCACTACCAGCAGCAGCAGC	0.665													2	4	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													2	4	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744													2	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs34890218		TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)caa>caGCAa	p.533_533Q>QQ		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""								10	12	---	---	---	---					
FMR1NB	158521	broad.mit.edu	37	X	147106444	147106444	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A5KF-01A-11D-A289-08	TCGA-E7-A5KF-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1d80d53-6703-442a-a78a-02b7e1400102	54eb4888-8dc8-4179-9a6b-8ee660542e63	g.chrX:147106444delA	ENST00000370467.3	+	5	766	c.692delA	c.(691-693)caafs	p.Q231fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	231						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAGAAACAAAGAAGGAAG	0.413													51	3	---	---	---	---