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
GINM1	116254	broad.mit.edu	37	6	149893686	149893686	+	Missense_Mutation	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:149893686A>G	ENST00000367419.5	+	3	345	c.224A>G	c.(223-225)aAt>aGt	p.N75S		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		GTGTATGTAAATGACTTACCT	0.313000													19	53					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28855344	28855344	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:28855344C>T	ENST00000313511.3	-	8	1139	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	331						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CAAGTCCTCCCGCTTCAAGCC	0.637000													22	29					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1337429	1337429	+	Missense_Mutation	SNP	A	A	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:1337429A>C	ENST00000446702.2	+	6	1226	c.599A>C	c.(598-600)aAc>aCc	p.N200T	CNTN6_ENST00000350110.2_Missense_Mutation_p.N200T|CNTN6_ENST00000539053.1_Missense_Mutation_p.N128T			Q9UQ52	CNTN6_HUMAN	contactin 6	200	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTTATAACTAACAAAGAGGCC	0.433000													3	26					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920185	58920185	+	Silent	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:58920185A>G	ENST00000528737.1	+	5	3862	c.1044A>G	c.(1042-1044)aaA>aaG	p.K348K	FAM111A_ENST00000533703.1_Silent_p.K348K|FAM111A_ENST00000361723.3_Silent_p.K348K|FAM111A_ENST00000420244.1_Silent_p.K348K|FAM111A_ENST00000531147.1_Silent_p.K348K			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	348					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAGTAGTGAAACTTCTTGTAC	0.343000													26	75					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467675	50467675	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr7:50467675G>C	ENST00000331340.3	+	8	1065	c.910G>C	c.(910-912)Gaa>Caa	p.E304Q	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.E262Q|IKZF1_ENST00000349824.4_Missense_Mutation_p.E161Q|IKZF1_ENST00000343574.5_Missense_Mutation_p.E217Q|IKZF1_ENST00000357364.4_Missense_Mutation_p.E217Q|IKZF1_ENST00000438033.1_Missense_Mutation_p.E217Q|IKZF1_ENST00000346667.4_Missense_Mutation_p.E74Q|IKZF1_ENST00000439701.1_Missense_Mutation_p.E262Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	304					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAGGAGAACGAAATGATGAA	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""								12	42					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599410	116599410	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr8:116599410G>C	ENST00000395715.3	-	5	3095	c.2518C>G	c.(2518-2520)Cta>Gta	p.L840V	TRPS1_ENST00000520276.1_Missense_Mutation_p.L831V|TRPS1_ENST00000519076.1_Missense_Mutation_p.L581V|TRPS1_ENST00000220888.5_Missense_Mutation_p.L827V|TRPS1_ENST00000519674.1_Missense_Mutation_p.L827V	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	827					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTATCCCTTAGAGTCTTTGTC	0.612000									Langer-Giedion syndrome				6	172					0	0	1	0	0
TMEM215	401498	broad.mit.edu	37	9	32784716	32784716	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:32784716G>A	ENST00000342743.5	+	2	900	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	179						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TGCCTTGGACGTCAAGTGCTC	0.562000													13	63					0	0	1	0	0
ALG1L	200810	broad.mit.edu	37	3	125651509	125651509	+	Silent	SNP	A	A	G	rs144988815	by1000genomes	TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:125651509A>G	ENST00000340333.3	-	3	307	c.144T>C	c.(142-144)ctT>ctC	p.L48L		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	48							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						TCACACAGACAAGAGAAGGAA	0.448000													5	104					0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34285617	34285617	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr20:34285617G>A	ENST00000374092.4	-	3	383	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	NFS1_ENST00000306750.3_Missense_Mutation_p.R105C|NFS1_ENST00000540053.1_De_novo_Start_InFrame|NFS1_ENST00000397425.1_Missense_Mutation_p.R45C|NFS1_ENST00000541387.1_Missense_Mutation_p.R105C|NFS1_ENST00000374085.1_Missense_Mutation_p.R45C	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	105					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACGAGCACGTTCCATGGCT	0.542000													17	79					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													5	89					1.23904e-05	1.26433e-05	1	1	0
IBTK	25998	broad.mit.edu	37	6	82882105	82882105	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:82882105G>C	ENST00000306270.7	-	28	4471	c.3922C>G	c.(3922-3924)Ctg>Gtg	p.L1308V	IBTK_ENST00000510291.1_Missense_Mutation_p.L1293V|IBTK_ENST00000503631.1_Missense_Mutation_p.L1107V	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1308					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACCTGAATCAGAGCCAACGGT	0.373000													9	68					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140523	129140523	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:129140523C>T	ENST00000505956.1	-	2	335	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	EFCAB12_ENST00000326085.3_Missense_Mutation_p.R58Q	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.R58Q(1)									CATGATGATTCGCCGGCGGGT	0.552000													8	32					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42556041	42556041	+	Missense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:42556041G>T	ENST00000318522.5	+	22	2619	c.2357G>T	c.(2356-2358)gGa>gTa	p.G786V	EML4_ENST00000401738.3_Missense_Mutation_p.G797V|EML4_ENST00000402711.2_Missense_Mutation_p.G728V|EML4_ENST00000453191.2_Missense_Mutation_p.G50V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	786					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGGCCAGAAGGATCTGATGGG	0.383000			T	ALK	NSCLC								7	65					0.00307968	0.00311079	1	1	0
ITCH	83737	broad.mit.edu	37	20	33026365	33026365	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr20:33026365C>G	ENST00000374864.4	+	8	821	c.608C>G	c.(607-609)tCa>tGa	p.S203*	ITCH_ENST00000262650.6_Nonsense_Mutation_p.S244*|ITCH_ENST00000535650.1_Nonsense_Mutation_p.S93*	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	244					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			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CCATCACTCTCAAATGGTGGT	0.478000													28	85					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107105270	107105270	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:107105270C>G	ENST00000392842.1	+	10	1388	c.974C>G	c.(973-975)tCa>tGa	p.S325*	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Nonsense_Mutation_p.S334*|RFX4_ENST00000229387.5_Nonsense_Mutation_p.S231*	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	325	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CGGCAAACATCACTAAATCAT	0.403000													12	44					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10356627	10356627	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:10356627C>G	ENST00000255381.2	-	24	3063	c.2953G>C	c.(2953-2955)Gag>Cag	p.E985Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	985					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTGCCATCTCTTCTGTGAGG	0.453000													17	220					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70015206	70015206	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:70015206C>T	ENST00000394295.4	+	3	278	c.30C>T	c.(28-30)gtC>gtT	p.V10V	ANXA4_ENST00000409920.1_Silent_p.V10V|ANXA4_ENST00000536030.1_Intron	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	8					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GAGGTACTGTCAAAGCTGCTT	0.522000													5	62					0	0	1	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149398970	149398970	+	RNA	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:149398970G>C	ENST00000609879.1	-	0	606				HIST2H2BB_ENST00000609585.1_RNA																							TGCGCTCGAAGATGTCGTTGA	0.627000													70	124					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108641908	108641908	+	Silent	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chrX:108641908A>G	ENST00000218006.2	-	11	2436	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	715	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCAACAGTTCAGGGGCCGTCC	0.493000													3	38					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66600601	66600601	+	Missense_Mutation	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:66600601A>G	ENST00000379500.2	+	1	252	c.185A>G	c.(184-186)cAg>cGg	p.Q62R	CMTM1_ENST00000529506.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.Q62R|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.Q62R|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CGCAGTGCGCAGTCCGCAGCC	0.657000													11	96					0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614780	175614780	+	Missense_Mutation	SNP	A	A	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:175614780A>C	ENST00000348749.5	-	7	973	c.896T>G	c.(895-897)cTg>cGg	p.L299R	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.L299R|CHRNA1_ENST00000409542.1_Missense_Mutation_p.L217R|CHRNA1_ENST00000261007.5_Missense_Mutation_p.L324R	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	324			T -> I (in SCCMS).		muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CATGGTGAACAGCATGTATTT	0.517000													9	90					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876198	42876198	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr13:42876198C>T	ENST00000025301.2	+	8	3491	c.3316C>T	c.(3316-3318)Cta>Tta	p.L1106L		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1106					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATCAACTCCTCTAGTACCATC	0.428000													38	41					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964788	92964788	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chrX:92964788G>A	ENST00000538690.1	+	5	931	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	FAM133A_ENST00000355813.5_Missense_Mutation_p.E124K|FAM133A_ENST00000332647.4_Missense_Mutation_p.E124K|FAM133A_ENST00000322139.4_Missense_Mutation_p.E124K	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	124	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						TGAGGATGAGGAAAAGAAACA	0.378000													5	7					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39906953	39906953	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:39906953G>C	ENST00000564288.1	+	74	19405	c.18628G>C	c.(18628-18630)Gag>Cag	p.E6210Q	MACF1_ENST00000545844.1_Missense_Mutation_p.E4151Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E4653Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E4151Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E6109Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E4151Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E4021Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6247Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6219					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAAACTTGAGGATGCTAT	0.413000													16	104					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73114794	73114794	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr7:73114794G>A	ENST00000222812.3	-	10	836	c.810C>T	c.(808-810)atC>atT	p.I270I	STX1A_ENST00000395156.3_3'UTR|STX1A_ENST00000484736.1_5'UTR|WBSCR22_ENST00000423166.2_Intron	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	270					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCACACAGCAGATGATGATCA	0.582000													6	66					0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112349146	112349146	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:112349146G>A	ENST00000389063.2	+	11	1426	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	DCP2_ENST00000543319.1_Missense_Mutation_p.D199N|DCP2_ENST00000515408.1_Missense_Mutation_p.D375N	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	410					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTCAAGTTTGACCATAATGC	0.433000													22	149					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605172	13605172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr4:13605172C>A	ENST00000040738.5	-	10	3487	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1118							DNA binding										TCCATTGGCTCTTGTTCAGGG	0.413000													29	91					2.65835e-16	2.92126e-16	1	1	0
MUC17	140453	broad.mit.edu	37	7	100683691	100683691	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr7:100683691G>A	ENST00000306151.4	+	3	9058	c.8994G>A	c.(8992-8994)ccG>ccA	p.P2998P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2998	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCATGCCGGTGGCCAGTT	0.507000													193	398					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42142408	42142408	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr13:42142408G>A	ENST00000379310.3	-	45	5711	c.5643C>T	c.(5641-5643)ttC>ttT	p.F1881F		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CCATGGCAACGAAAGACCGAC	0.502000													22	54					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77671445	77671445	+	Silent	SNP	T	T	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:77671445T>C	ENST00000461745.1	+	23	4522	c.3622T>C	c.(3622-3624)Ttg>Ctg	p.L1208L	ROBO2_ENST00000332191.8_Silent_p.L1208L|ROBO2_ENST00000487694.3_Silent_p.L1224L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1208					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTCTGGAGCCTTGATTTCTGA	0.453000													15	45					0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30689980	30689980	+	Missense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr22:30689980G>T	ENST00000215790.7	-	7	989	c.825C>A	c.(823-825)ttC>ttA	p.F275L	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.F187L|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.F149L|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.F282L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	275	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGCGCACATGAACCATTCTG	0.592000													50	61					1.00221e-16	1.11357e-16	1	1	0
PHLDB1	23187	broad.mit.edu	37	11	118501996	118501996	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:118501996G>A	ENST00000361417.2	+	8	2311	c.1900G>A	c.(1900-1902)Ggg>Agg	p.G634R	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.G634R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	634										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCTGAGGCTGGGGAGCTTCC	0.672000													36	209					0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125239456	125239456	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:125239456G>C	ENST00000259357.2	-	1	779	c.750C>G	c.(748-750)atC>atG	p.I250M		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TCCGATAATAGATAGTCACCA	0.458000													17	104					0	0	1	0	0
RAB26	25837	broad.mit.edu	37	16	2203360	2203360	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:2203360C>T	ENST00000210187.6	+	9	869	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	RAB26_ENST00000541451.1_Missense_Mutation_p.R171C	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	237					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						CAGCGAGCCGCGCTTCCGGCT	0.632000													39	53					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152348793	152348793	+	Silent	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:152348793C>A	ENST00000427231.2	-	178	25078	c.24876G>T	c.(24874-24876)gtG>gtT	p.V8292V	RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Silent_p.V6436V|NEB_ENST00000397345.3_Silent_p.V8292V|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Silent_p.V8292V|NEB_ENST00000397336.2_Silent_p.V267V|NEB_ENST00000509223.2_Silent_p.V205V|NEB_ENST00000172853.10_Silent_p.V6436V|NEB_ENST00000603639.1_Silent_p.V8292V	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6604					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATGATATTTCACCTGAAATG	0.398000													14	40					4.3838e-07	4.66362e-07	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31178531	31178531	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:31178531C>G	ENST00000349752.5	-	6	1246	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	GALNT14_ENST00000356174.3_Missense_Mutation_p.E170Q|GALNT14_ENST00000420311.2_Missense_Mutation_p.E168Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.E208Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.E183Q|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	203	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E203K(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGTTCACCTCACAGTGGCTG	0.622000													9	81					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106892090	106892090	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:106892090G>A	ENST00000286398.7	+	21	3243	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	SMC2_ENST00000374787.3_Missense_Mutation_p.M985I|SMC2_ENST00000303219.8_Missense_Mutation_p.M985I|SMC2_ENST00000374793.3_Missense_Mutation_p.M985I	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	985					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.M985I(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATGTCAATATGAGAGCTATGA	0.378000													18	63					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80097051	80097051	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:80097051G>A	ENST00000466387.1	+	9	1299	c.575G>A	c.(574-576)aGa>aAa	p.R192K	CTNNA2_ENST00000361291.4_Missense_Mutation_p.R226K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R192K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R192K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R192K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R192K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	192					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTAGCAGCAAGAAGACAACAG	0.408000													9	93					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27156193	27156193	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:27156193C>G	ENST00000343028.4	-	2	447	c.222G>C	c.(220-222)caG>caC	p.Q74H	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	74						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CAGTTGTATTCTGATACTGTG	0.338000													6	24					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	679780	679780	+	Missense_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:679780C>A	ENST00000382409.3	-	8	1518	c.1034G>T	c.(1033-1035)gGg>gTg	p.G345V	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G256V	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	345					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GGTCAGTGCCCCCGAGGTCGT	0.652000													4	61					0.00909568	0.00909568	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42530797	42530797	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr18:42530797C>T	ENST00000282030.5	+	4	1788	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	498						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCTAAGCCGCGGAAGCCACC	0.488000									Schinzel-Giedion syndrome				42	70					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56144667	56144667	+	Silent	SNP	T	T	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr15:56144667T>G	ENST00000508342.1	-	9	2657	c.2358A>C	c.(2356-2358)gtA>gtC	p.V786V	NEDD4_ENST00000506154.1_Silent_p.V770V|NEDD4_ENST00000435532.3_Silent_p.V367V|NEDD4_ENST00000338963.2_Silent_p.V714V	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	786	Mediates interaction with TNIK (By similarity).|WW 2.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AATTGTGATCTACATAATATG	0.378000													16	23					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179638434	179638434	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:179638434G>C	ENST00000444136.1	+	17	3005	c.2755G>C	c.(2755-2757)Gaa>Caa	p.E919Q	TDRD5_ENST00000294848.8_Missense_Mutation_p.E865Q|TDRD5_ENST00000367614.1_Missense_Mutation_p.E865Q	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	865					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						GAGCCAGTCTGAACCCAACAA	0.488000													23	187					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:7577058C>A	ENST00000420246.2	-	8	1012	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGTGAGGCTCCCCTTTCTTG	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			49	37					1.61004e-24	1.79892e-24	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85383427	85383427	+	Missense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr15:85383427G>T	ENST00000258888.5	+	5	1690	c.1523G>T	c.(1522-1524)aGa>aTa	p.R508I		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	508					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGCCTCAGAGAGCCCTCAAA	0.577000													23	39					5.35047e-06	5.60259e-06	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22806740	22806740	+	Missense_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr18:22806740C>A	ENST00000361524.3	-	4	1290	c.1142G>T	c.(1141-1143)cGa>cTa	p.R381L	ZNF521_ENST00000538137.2_Missense_Mutation_p.R381L|ZNF521_ENST00000584787.1_Missense_Mutation_p.R161L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	381					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTTCCTCCCTCGACTCTTTGG	0.517000			T	PAX5	ALL								18	77					3.8784e-16	4.23869e-16	1	1	0
PLEKHF2	79666	broad.mit.edu	37	8	96166329	96166329	+	Missense_Mutation	SNP	A	A	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr8:96166329A>C	ENST00000315367.3	+	2	298	c.57A>C	c.(55-57)gaA>gaC	p.E19D	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.E19D	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	19						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GTATAGTGGAAAACTGTTTTG	0.378000													7	101					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31914364	31914364	+	Silent	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:31914364C>G	ENST00000556679.1	+	14	1840	c.1785C>G	c.(1783-1785)gtC>gtG	p.V595V	CFB_ENST00000456570.1_Silent_p.V595V|CFB_ENST00000477310.1_Intron|CFB_ENST00000425368.2_Silent_p.V93V			P00751	CFAB_HUMAN	complement factor B	93	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAAGACTGTCAGGAAGGCAG	0.562000													17	49					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57035986	57035986	+	Nonsense_Mutation	SNP	A	A	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr19:57035986A>T	ENST00000308031.5	+	5	683	c.550A>T	c.(550-552)Aaa>Taa	p.K184*	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CACATCAGATAAAAAAAGCTT	0.299000													15	31					0	0	1	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102045895	102045895	+	Missense_Mutation	SNP	A	A	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr10:102045895A>T	ENST00000370372.2	-	2	183	c.131T>A	c.(130-132)aTg>aAg	p.M44K	BLOC1S2_ENST00000441611.1_Start_Codon_SNP_p.M1K|BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	44					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		TTTGGAGAACATGTCCCGGCA	0.592000													19	125					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377183	77377183	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:77377183G>A	ENST00000451710.3	-	26	4641	c.4404C>T	c.(4402-4404)atC>atT	p.I1468I	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.I1468I|TRPM6_ENST00000360774.1_Silent_p.I1468I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.I1463I|TRPM6_ENST00000449912.2_Silent_p.I1463I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1468					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTTTTTCTTGATGCTAAACA	0.488000													20	92					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175415	140175415	+	Missense_Mutation	SNP	T	T	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:140175415T>C	ENST00000526136.1	+	1	866	c.866T>C	c.(865-867)aTa>aCa	p.I289T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.I289T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.I289T	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCCACTATACAGACTAAG	0.428000													28	78					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200974018	200974018	+	Missense_Mutation	SNP	G	G	C	rs141814113		TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:200974018G>C	ENST00000332129.2	-	6	1092	c.776C>G	c.(775-777)tCg>tGg	p.S259W	KIF21B_ENST00000360529.5_Missense_Mutation_p.S259W|KIF21B_ENST00000461742.2_Missense_Mutation_p.S259W|KIF21B_ENST00000422435.2_Missense_Mutation_p.S259W	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	259	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATACTCACTCGAGGGAGGTGT	0.612000													41	60					0	0	1	0	0
RNF181	51255	broad.mit.edu	37	2	85823766	85823766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:85823766C>T	ENST00000441634.1	+	2	250	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	RNF181_ENST00000306368.4_Nonsense_Mutation_p.Q71*			Q9P0P0	RN181_HUMAN	ring finger protein 181	71							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						CAGAGGCTCTCAGGCTGGTGA	0.562000													10	65					0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827105	79827105	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:79827105C>T	ENST00000269321.7	-	5	494	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	ARHGDIA_ENST00000541078.2_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000580685.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000584461.1_Missense_Mutation_p.R120Q|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.R120Q	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	120					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACTATCTCTCGGTTAACCTG	0.642000													40	47					0	0	1	0	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859143	149859143	+	Silent	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:149859143G>C	ENST00000331128.3	-	1	323	c.324C>G	c.(322-324)gtC>gtG	p.V108V		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	108					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TATTGGGCAAGACGCCGCCCT	0.532000													43	86					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100672348	100672348	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr15:100672348C>T	ENST00000268070.4	-	12	1690	c.1585G>A	c.(1585-1587)Gcg>Acg	p.A529T		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	529	Disintegrin.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACTCCCCCGCGCGGCACCAC	0.677000											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	10					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43160906	43160906	+	Missense_Mutation	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:43160906A>G	ENST00000252050.4	+	9	2432	c.2348A>G	c.(2347-2349)gAa>gGa	p.E783G	CUL9_ENST00000372647.2_Missense_Mutation_p.E783G|CUL9_ENST00000354495.3_Missense_Mutation_p.E673G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	783					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCATGCAAGAATATAAGACT	0.592000													38	340					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278918	278918	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr20:278918G>A	ENST00000382352.3	+	1	1182	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	231							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ACGCGTCTACGAGGAGAAGCG	0.617000													22	60					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103113313	103113313	+	Silent	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr7:103113313A>G	ENST00000424685.2	-	65	10488	c.10329T>C	c.(10327-10329)caT>caC	p.H3443H	RELN_ENST00000343529.5_Silent_p.H3441H|RELN_ENST00000428762.1_Silent_p.H3443H|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	3443	Arg-rich (basic).				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCTGAGCCCATGTTGTCGTG	0.383000													16	37					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90045169	90045169	+	Missense_Mutation	SNP	A	A	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr10:90045169A>T	ENST00000331772.4	-	7	993	c.971T>A	c.(970-972)tTt>tAt	p.F324Y	RNLS_ENST00000371947.3_Intron|RNLS_ENST00000437752.1_Intron	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	324						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GCAGCCATCAAAGTTGGACTG	0.408000													27	42					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192708	179192708	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:179192708G>A	ENST00000292599.3	+	2	960	c.697G>A	c.(697-699)Ggc>Agc	p.G233S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	233					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGACTGTCGGCTCCATATC	0.537000													26	60					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788322	80788322	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:80788322G>C	ENST00000269394.3	-	3	2701	c.1868C>G	c.(1867-1869)gCg>gGg	p.A623G	ZNF750_ENST00000572562.1_Missense_Mutation_p.A224G|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	623						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTGTCCACCGCGCATGCGTC	0.706000													10	59					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27156246	27156246	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:27156246C>T	ENST00000343028.4	-	2	394	c.169G>A	c.(169-171)Gat>Aat	p.D57N	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	57						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					CTTGAAATATCATGCAAAATA	0.343000													15	39					0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892644	72892644	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr7:72892644G>C	ENST00000339594.4	-	7	1485	c.1147C>G	c.(1147-1149)Cac>Gac	p.H383D	BAZ1B_ENST00000404251.1_Missense_Mutation_p.H383D	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	383	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTAGGAATGTGAAAGTTAGTG	0.443000													9	53					0	0	1	0	0
NANS	54187	broad.mit.edu	37	9	100839226	100839226	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:100839226G>A	ENST00000210444.5	+	3	445	c.375G>A	c.(373-375)ctG>ctA	p.L125L	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	125					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TGCATGAACTGAATGTTCCAT	0.353000													16	45					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	28					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563170	140563170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:140563170C>T	ENST00000361016.2	+	1	2191	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		346	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATCCCCCACAGGTGACCAT	0.522000													17	106					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785403	10785403	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:10785403C>G	ENST00000361367.2	+	9	1597	c.1171C>G	c.(1171-1173)Caa>Gaa	p.Q391E		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	391					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTCAGAAGATCAAGAAAAACG	0.363000													19	73					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	438725	438725	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr19:438725G>A	ENST00000264554.6	-	4	712	c.713C>T	c.(712-714)aCg>aTg	p.T238M		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	238	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACCTGGCGCGTGGCAGGCAC	0.682000													4	6					0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51178251	51178251	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr22:51178251G>A	ENST00000216139.5	+	3	451	c.411G>A	c.(409-411)gcG>gcA	p.A137A	ACR_ENST00000529621.1_Silent_p.A137A	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	137	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ACAACTCTGCGACAGAGGGAA	0.498000													5	138					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:90162462A>G	ENST00000567960.1	+	0	1198				TUBB8P7_ENST00000564451.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													5	157					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.G55D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	55	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								6	623					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32868906	32868906	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr20:32868906C>G	ENST00000538132.1	-	10	1535	c.1149G>C	c.(1147-1149)gaG>gaC	p.E383D	RP4-785G19.5_ENST00000512005.1_RNA|AHCY_ENST00000217426.2_Missense_Mutation_p.E411D	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	411					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGGCTTGCTTCTCAGTTAGCT	0.567000													11	49					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243419506	243419506	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:243419506G>C	ENST00000366541.3	+	1	149	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.E11Q|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E11Q|SDCCAG8_ENST00000343783.6_5'UTR	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	11					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)		CTCTACCCTGGAGGAGATTCT	0.607000													19	115					0	0	1	0	0
C17orf82	388407	broad.mit.edu	37	17	59490091	59490091	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:59490091G>A	ENST00000335108.2	+	1	980	c.755G>A	c.(754-756)tGa>tAa	p.*252*		NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	0										cervix(1)|lung(1)	2						CGGACACACTGAGCGGAGGGC	0.746000													10	10					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288669	77288669	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr4:77288669C>T	ENST00000388914.3	-	11	1760	c.1608G>A	c.(1606-1608)ttG>ttA	p.L536L		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	536										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATTTTTCAAGTGTTGCA	0.498000													8	73					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118599705	118599705	+	Missense_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:118599705C>A	ENST00000392533.3	-	18	2517	c.2027G>T	c.(2026-2028)cGt>cTt	p.R676L	TAOK3_ENST00000537952.1_Missense_Mutation_p.R216L|TAOK3_ENST00000419821.2_Missense_Mutation_p.R676L	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	676					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCTGTAAACGGATCAGATC	0.522000													20	90					8.00594e-06	8.29631e-06	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208213011	208213011	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:208213011C>T	ENST00000367033.3	-	24	5212	c.4455G>A	c.(4453-4455)ctG>ctA	p.L1485L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1485					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGTCCTCGCTCAGGGAGTAGC	0.602000													59	102					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20811721	20811721	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:20811721C>G	ENST00000564349.1	-	7	660	c.185G>C	c.(184-186)tGg>tCg	p.W62S	ERI2_ENST00000357967.4_Missense_Mutation_p.W155S|ERI2_ENST00000389345.5_Intron|ERI2_ENST00000300005.3_Missense_Mutation_p.W155S|ERI2_ENST00000563117.1_Missense_Mutation_p.W62S|ERI2_ENST00000569729.1_Missense_Mutation_p.W155S			A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	155	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CCCCAAGTCCCAGTCTGCATT	0.363000													17	102					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139047628	139047628	+	Silent	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chrX:139047628A>G	ENST00000370540.1	-	1	51	c.28T>C	c.(28-30)Ttg>Ctg	p.L10L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	10						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CAAATGGACAAAAGTAGGACA	0.348000													29	33					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687671	30687671	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:30687671C>G	ENST00000394670.4	+	4	531	c.362C>G	c.(361-363)tCt>tGt	p.S121C	ZNF207_ENST00000321233.6_Missense_Mutation_p.S121C|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_Missense_Mutation_p.S121C|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Missense_Mutation_p.S124C|ZNF207_ENST00000394673.2_Missense_Mutation_p.S121C	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GATGACGACTCTGCAGCCTCA	0.398000													13	52					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20811624	20811624	+	Splice_Site	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:20811624C>T	ENST00000564349.1	-	7	757	c.282G>A	c.(280-282)aaG>aaA	p.K94K	ERI2_ENST00000357967.4_Splice_Site_p.K187K|ERI2_ENST00000389345.5_Intron|ERI2_ENST00000300005.3_Splice_Site_p.K187K|ERI2_ENST00000563117.1_Splice_Site_p.K94K|ERI2_ENST00000569729.1_Splice_Site_p.K187K			A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	187	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTACCATTACCTTGTAAGTTG	0.373000													13	94					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42281257	42281257	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:42281257C>T	ENST00000294964.5	+	3	1024	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W		NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	282	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						CTTCCGCCCTCGGCAGTTTGT	0.637000													12	21					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984015	5984015	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:5984015C>T	ENST00000574946.1	+	2	427	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD1_ENST00000574232.1_Missense_Mutation_p.R13C|WSCD1_ENST00000317744.5_Missense_Mutation_p.R13C|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Missense_Mutation_p.R13C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	13						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GAAGTTTCTCCGCCGAACACA	0.662000													38	44					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	108					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117375705	117375705	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:117375705C>G	ENST00000321322.6	-	10	2297	c.2296G>C	c.(2296-2298)Gct>Cct	p.A766P	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A496P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	706	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACACCAGCTTTGCCGTAG	0.557000													20	74					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46230744	46230744	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:46230744C>T	ENST00000334344.6	+	8	1165	c.993C>T	c.(991-993)ggC>ggT	p.G331G	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.G182G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	331					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGCAATTAGGCCTTGACACAT	0.363000			"""N, S, F"""		hepatocellular carcinoma								10	59					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127585212	127585212	+	Translation_Start_Site	SNP	A	A	T	rs145156460	by1000genomes	TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr10:127585212A>T	ENST00000368695.1	+	0	105				FANK1_ENST00000449042.2_De_novo_Start_InFrame|FANK1_ENST00000368693.1_Start_Codon_SNP_p.M1L	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1							cytoplasm|nucleus		p.M1L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GCAGCCGACCATGGAGCCCCA	0.761000													3	16					0	0	1	0	0
CDR2L	30850	broad.mit.edu	37	17	72997468	72997468	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:72997468C>T	ENST00000337231.5	+	3	637	c.225C>T	c.(223-225)caC>caT	p.H75H		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	75												all_lung(278;0.226)					CGCTGCGGCACGTGAACGAGC	0.577000													19	31					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20811644	20811644	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:20811644C>G	ENST00000564349.1	-	7	737	c.262G>C	c.(262-264)Gat>Cat	p.D88H	ERI2_ENST00000357967.4_Missense_Mutation_p.D181H|ERI2_ENST00000389345.5_Intron|ERI2_ENST00000300005.3_Missense_Mutation_p.D181H|ERI2_ENST00000563117.1_Missense_Mutation_p.D88H|ERI2_ENST00000569729.1_Missense_Mutation_p.D181H			A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	181	Exonuclease.					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						GCTCTGAGATCAATCCAAGAA	0.368000													15	103					0	0	1	0	0
MIR1323	100302255	broad.mit.edu	37	19	54175242	54175242	+	RNA	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr19:54175242G>T	ENST00000408090.1	+	0	21					NR_031568.1																						TCAAAACTGAGGGGCATTTTC	0.483000													37	54					1.68508e-10	1.81192e-10	1	1	0
GRM1	2911	broad.mit.edu	37	6	146351161	146351161	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:146351161C>G	ENST00000392299.2	+	2	978	c.508C>G	c.(508-510)Caa>Gaa	p.Q170E	GRM1_ENST00000282753.1_Missense_Mutation_p.Q170E|GRM1_ENST00000507907.1_Missense_Mutation_p.Q170E|GRM1_ENST00000361719.2_Missense_Mutation_p.Q170E|GRM1_ENST00000492807.2_Missense_Mutation_p.Q170E|GRM1_ENST00000355289.4_Missense_Mutation_p.Q170E			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	170					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGTAGCCATTCAAGTGCAGAA	0.557000													34	75					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61182191	61182191	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:61182191G>C	ENST00000316752.6	-	12	1280	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	PUS10_ENST00000407787.1_Missense_Mutation_p.S340C	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	340					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TTCTCTTCCAGAGGATGAAAA	0.338000													3	29					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49163837	49163837	+	Silent	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:49163837A>G	ENST00000418109.1	-	17	2276	c.2112T>C	c.(2110-2112)ccT>ccC	p.P704P	LAMB2_ENST00000305544.4_Silent_p.P704P	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	704	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGAGTCTCAGGCTGGGCAC	0.557000													4	78					0	0	1	0	0
PGPEP1	54858	broad.mit.edu	37	19	18468380	18468380	+	Missense_Mutation	SNP	C	C	T	rs148927470		TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr19:18468380C>T	ENST00000269919.6	+	4	487	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PGPEP1_ENST00000252813.5_Missense_Mutation_p.T54M|PGPEP1_ENST00000597431.2_Intron|PGPEP1_ENST00000595066.1_Missense_Mutation_p.T131M|PGPEP1_ENST00000604499.2_Missense_Mutation_p.T131M	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I								cysteine-type peptidase activity										CGAGTCACCACGTTGGGCCTG	0.622000													4	25					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612495	96612495	+	Missense_Mutation	SNP	C	C	T	rs56337013		TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr10:96612495C>T	ENST00000371321.3	+	9	1379	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	433			R -> W (in allele CYP2C19*5A and allele CYP2C19*5B; loss of activity; dbSNP:rs56337013).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R433W(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCAGGAAAACGGATTTGTGT	0.423000													11	87					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112184916	112184916	+	Missense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:112184916G>T	ENST00000455480.2	+	16	2590	c.2413G>T	c.(2413-2415)Gcg>Tcg	p.A805S	ACAD10_ENST00000313698.4_Missense_Mutation_p.A774S|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.A376S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	774							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGCACCGAAGCGCAGAAGGC	0.592000													5	48					2.0095e-06	2.11526e-06	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120327904	120327904	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:120327904G>C	ENST00000397843.2	+	23	2300	c.2134G>C	c.(2134-2136)Gat>Cat	p.D712H	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D693H|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D609H	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	712					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TACTGTCTTTGATTTCCCACC	0.428000			T	MLL	AML								27	66					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160980337	160980337	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:160980337C>T	ENST00000283249.2	-	12	2183	c.1946G>A	c.(1945-1947)tGc>tAc	p.C649Y	ITGB6_ENST00000409872.1_Missense_Mutation_p.C649Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C607Y|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	649					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGCTAGTTTGCACTTGTCCAC	0.473000													31	63					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5229929	5229929	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:5229929G>A	ENST00000256497.4	+	1	572	c.439G>A	c.(439-441)Gct>Act	p.A147T	AC026202.1_ENST00000600805.1_Silent_p.S18S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	147					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CAACTACATGGCTCACGCCTT	0.711000													12	10					0	0	1	0	0
CAAP1	79886	broad.mit.edu	37	9	26892630	26892630	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:26892630G>C	ENST00000333916.5	-	1	172	c.84C>G	c.(82-84)atC>atG	p.I28M	CAAP1_ENST00000520187.1_Missense_Mutation_p.I28M	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	28																	ACGCGGGTACGATGTCCGGGG	0.667000													6	29					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54629745	54629745	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr18:54629745G>A	ENST00000254442.3	+	26	4360	c.4149G>A	c.(4147-4149)cgG>cgA	p.R1383R	WDR7_ENST00000357574.3_Silent_p.R1350R|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1383										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACGACATCCGGACTGGAAAAT	0.448000													9	27					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153273871	153273871	+	Silent	SNP	C	C	T	rs34496200	byFrequency	TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr4:153273871C>T	ENST00000263981.5	-	1	252	c.12G>A	c.(10-12)ccG>ccA	p.P4P	FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000296555.5_Intron|FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron	NM_018315.4	NP_060785.2	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.P4P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AACCGCTTCTCGGGACACACA	0.473000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								13	37					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158227281	158227281	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:158227281G>A	ENST00000289429.5	+	5	1487	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.A318A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGGTCTTGCGCTTTGGTTCA	0.458000													81	115					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873295	55873295	+	Silent	SNP	T	T	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:55873295T>C	ENST00000313503.1	+	1	777	c.777T>C	c.(775-777)taT>taC	p.Y259Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTTTACTTATTTAAAACCAA	0.358000										HNSCC(53;0.14)			26	71					0	0	1	0	0
CDR2L	30850	broad.mit.edu	37	17	72997467	72997467	+	Missense_Mutation	SNP	A	A	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:72997467A>T	ENST00000337231.5	+	3	636	c.224A>T	c.(223-225)cAc>cTc	p.H75L		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	75												all_lung(278;0.226)					ACGCTGCGGCACGTGAACGAG	0.577000													19	31					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75892916	75892916	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:75892916G>A	ENST00000322507.8	-	10	2050	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.R581C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R581C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	581	VWFA 2.			R -> D (in Ref. 4; AAC01506).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTCTGAGCGAACGGCATCC	0.433000													26	75					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696435	47696435	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:47696435C>G	ENST00000393331.3	-	7	858	c.388G>C	c.(388-390)Gac>Cac	p.D130H	SPOP_ENST00000503676.1_Missense_Mutation_p.D130H|SPOP_ENST00000347630.2_Missense_Mutation_p.D130H|SPOP_ENST00000393328.2_Missense_Mutation_p.D130H|SPOP_ENST00000504102.1_Missense_Mutation_p.D130H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	130	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATCCCCAGTCTTTGCCTTGC	0.458000										Prostate(2;0.17)			20	171					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119568524	119568524	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:119568524G>A	ENST00000267260.4	+	8	1044	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	219	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCCCGCCGAAGGCACTCC	0.657000													6	14					0	0	1	0	0
HOXC5	3222	broad.mit.edu	37	12	54427124	54427124	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:54427124G>C	ENST00000312492.2	+	1	488	c.218G>C	c.(217-219)cGc>cCc	p.R73P	HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	73					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CACCCCGACCGCCCCGCCTGC	0.687000													8	19					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145383695	145383695	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:145383695C>T	ENST00000511217.1	+	3	775	c.723C>T	c.(721-723)atC>atT	p.I241I	SH3RF2_ENST00000359120.4_Silent_p.I241I			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	241	SH3 2.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGTAGGCATCTTCCCTATCT	0.433000													25	82					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2933519	2933519	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr19:2933519G>A	ENST00000314531.4	-	4	1698	c.1606C>T	c.(1606-1608)Caa>Taa	p.Q536*		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATGTGCTTGAAGCGATGCG	0.483000													68	107					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44601699	44601699	+	Silent	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr22:44601699C>G	ENST00000444313.3	+	13	1360	c.876C>G	c.(874-876)gtC>gtG	p.V292V	PARVG_ENST00000415224.1_Silent_p.V292V|PARVG_ENST00000422871.1_Silent_p.V292V	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GCTGCCCTGTCAGCCCTGAAG	0.627000													17	14					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1322999	1322999	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:1322999G>A	ENST00000320895.5	-	13	1565	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	CLPTM1L_ENST00000320927.6_Silent_p.F400F|CLPTM1L_ENST00000507807.1_Silent_p.F267F|CLPTM1L_ENST00000506641.1_5'UTR	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	436					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CACCGTTGACGAAGCTGTTGA	0.423000													50	169					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688924	55688924	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:55688924G>A	ENST00000358433.2	-	1	92	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGTGTAGTTGAGAAATAGAA	0.408000													21	53					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094347	27094347	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:27094347G>C	ENST00000324856.7	+	11	3426	c.3055G>C	c.(3055-3057)Gag>Cag	p.E1019Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.E1019Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.E636Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1019	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGTGAGCCTGAGAGGAAGAT	0.493000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								28	74					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133723114	133723114	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr8:133723114C>T	ENST00000523829.1	-	9	1050	c.929G>A	c.(928-930)gGa>gAa	p.G310E	TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	0						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTCGCTTACTCCCTTCCAATA	0.338000													10	30					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49308297	49308297	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:49308297C>T	ENST00000266984.5	+	3	638	c.411C>T	c.(409-411)ctC>ctT	p.L137L	CCDC65_ENST00000320516.4_Silent_p.L137L|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	137										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GGCTCAGTCTCCTGGAGGAAA	0.562000													16	77					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70446107	70446107	+	Missense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:70446107G>T	ENST00000310961.5	+	10	1076	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.D215Y			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	215						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTTATGGATGGATAATAATGC	0.328000													4	95					0.00909568	0.00909568	1	1	0
OR2B2	81697	broad.mit.edu	37	6	27879693	27879693	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:27879693G>A	ENST00000303324.2	-	1	481	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TCTGGTGCATGATAATTGAGT	0.473000													38	75					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													5	93					0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9739403	9739403	+	Missense_Mutation	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:9739403A>G	ENST00000296003.4	+	18	1744	c.1622A>G	c.(1621-1623)gAc>gGc	p.D541G	MTMR14_ENST00000353332.5_Intron|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	541						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AGATCAGTGGACCATCCCCTG	0.612000													72	270					0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391386	18391386	+	Silent	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr19:18391386G>C	ENST00000252818.3	-	1	1046	c.909C>G	c.(907-909)ctC>ctG	p.L303L		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	303	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						TCTGACTCTTGAGGGTCTTCA	0.657000													6	34					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262011	1262011	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:1262011C>G	ENST00000348261.5	+	25	4880	c.4632C>G	c.(4630-4632)ttC>ttG	p.F1544L	CACNA1H_ENST00000565831.1_Missense_Mutation_p.F1544L|CACNA1H_ENST00000358590.4_Missense_Mutation_p.F1544L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1544					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCGTCAGCTTCTTCGTGCTCA	0.642000													84	173					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921500	25921500	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:25921500C>T	ENST00000377850.3	-	4	905	c.381G>A	c.(379-381)ctG>ctA	p.L127L	SLC17A2_ENST00000360488.3_Silent_p.L127L|SLC17A2_ENST00000265425.3_Silent_p.L127L			O00624	NPT3_HUMAN	solute carrier family 17, member 2	127					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GGGAAGAGATCAGCAAACCAG	0.468000													4	92					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958565	122958565	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:122958565C>T	ENST00000543897.1	-	12	3244	c.889G>A	c.(889-891)Gag>Aag	p.E297K	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E297K|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E535K|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E146K			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	535						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	p.E535K(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTACGCTCTCGGCCTGCTCA	0.547000													106	194					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64136986	64136986	+	Silent	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:64136986G>T	ENST00000528057.1	+	13	1564	c.1476G>T	c.(1474-1476)cgG>cgT	p.R492R	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.R499R	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	499	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GCAAGAAGCGGCACTTCAGCG	0.682000													7	12					2.7689e-08	2.96139e-08	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134348963	134348963	+	Missense_Mutation	SNP	T	T	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:134348963T>C	ENST00000357304.4	+	14	2231	c.2176T>C	c.(2176-2178)Tgt>Cgt	p.C726R	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.C726R|PRRC2B_ENST00000405995.1_Missense_Mutation_p.C726R	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	726							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GGATCAGAACTGTGTGCCCCC	0.562000													4	20					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122786	18122786	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:18122786C>G	ENST00000340650.3	-	1	65	c.52G>C	c.(52-54)Gag>Cag	p.E18Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	18					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E18*(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			ATCTCCGCCTCGCGCATGAGC	0.711000													15	40					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36447412	36447412	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr7:36447412G>A	ENST00000265748.2	+	5	1164	c.943G>A	c.(943-945)Gag>Aag	p.E315K	ANLN_ENST00000396068.2_Missense_Mutation_p.E315K|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	315	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACAAAATCCTGAGCTACTTCC	0.398000													23	68					0	0	1	0	0
HRSP12	10247	broad.mit.edu	37	8	99129313	99129313	+	Missense_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr8:99129313C>A	ENST00000254878.3	-	1	156	c.12G>T	c.(10-12)ttG>ttT	p.L4F	HRSP12_ENST00000519155.1_5'UTR	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	4					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			CCCTTCTGATCAAGGACGACA	0.607000													38	86					2.5098e-30	2.82e-30	1	1	0
GTF2B	2959	broad.mit.edu	37	1	89323141	89323141	+	Missense_Mutation	SNP	T	T	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:89323141T>C	ENST00000370500.5	-	6	683	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	189					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		CCAATTTCTTTCTTAGAAATT	0.323000													7	34					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62969183	62969183	+	RNA	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:62969183G>A	ENST00000430983.1	-	0	1290					NR_026903.1																						CATCGGTGTTGATATGAATTA	0.318000													5	3					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499808	8499808	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:8499808C>G	ENST00000381196.4	-	22	2704	c.2161G>C	c.(2161-2163)Gag>Cag	p.E721Q	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E708Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.E721Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E721Q|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.E708Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	721	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGACAGCCTCTACCTCGACT	0.458000										TSP Lung(15;0.13)			34	70					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4411351	4411351	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:4411351C>G	ENST00000254436.7	-	2	401	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	TRIM21_ENST00000543625.1_Missense_Mutation_p.E97Q	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	97					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TGAAGTCTCTCTCCATGCACT	0.562000													19	75					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83182702	83182702	+	Missense_Mutation	SNP	C	C	T	rs147867012		TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:83182702C>T	ENST00000398309.2	-	19	2568	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	DLG2_ENST00000426717.2_Missense_Mutation_p.E164K|DLG2_ENST00000543673.1_Missense_Mutation_p.E805K|DLG2_ENST00000537455.1_Missense_Mutation_p.E450K|DLG2_ENST00000532653.1_Missense_Mutation_p.E682K|DLG2_ENST00000404783.3_Missense_Mutation_p.E178K|DLG2_ENST00000524982.1_Missense_Mutation_p.E696K|DLG2_ENST00000280241.8_Missense_Mutation_p.E739K|DLG2_ENST00000376104.2_Missense_Mutation_p.E805K|DLG2_ENST00000376106.3_Missense_Mutation_p.E164K|DLG2_ENST00000418306.2_Missense_Mutation_p.E579K|DLG2_ENST00000531015.1_Missense_Mutation_p.E667K|DLG2_ENST00000330014.6_Missense_Mutation_p.E621K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	700	Guanylate kinase-like.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAGGGAATTCAGATATCAAG	0.423000													17	45					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27094386	27094386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:27094386G>T	ENST00000324856.7	+	11	3465	c.3094G>T	c.(3094-3096)Gag>Tag	p.E1032*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1032*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E649*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1032	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCTTCACTGAGGAGAAGGC	0.507000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								42	100					1.32136e-16	1.46006e-16	1	1	0
TPCN1	53373	broad.mit.edu	37	12	113730855	113730855	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:113730855C>G	ENST00000550785.1	+	27	2615	c.2446C>G	c.(2446-2448)Ctc>Gtc	p.L816V	TPCN1_ENST00000546787.1_3'UTR|TPCN1_ENST00000392569.4_Missense_Mutation_p.L676V|TPCN1_ENST00000541517.1_Missense_Mutation_p.L816V|TPCN1_ENST00000335509.6_Missense_Mutation_p.L744V	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	744						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GCTGGAGACCCTCTCCCAGAT	0.597000													14	39					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504452	47504452	+	Silent	SNP	T	T	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr14:47504452T>G	ENST00000426342.1	-	8	1433	c.687A>C	c.(685-687)ggA>ggC	p.G229G	MDGA2_ENST00000399232.2_Silent_p.G458G|MDGA2_ENST00000357362.3_Silent_p.G229G|MDGA2_ENST00000439988.3_Silent_p.G527G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	458	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTATTGTGTCTCCTTCTCTGG	0.403000													19	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497373	179497373	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:179497373C>T	ENST00000589042.1	-	235	43584	c.43360G>A	c.(43360-43362)Gag>Aag	p.E14454K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12813K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5581K|TTN_ENST00000460472.2_Missense_Mutation_p.E5389K|TTN_ENST00000359218.5_Missense_Mutation_p.E5514K|TTN_ENST00000342992.6_Missense_Mutation_p.E11886K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12813	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATAAGCTCAAATCTGTCA	0.418000													26	140					0	0	1	0	0
SUPT20H	55578	broad.mit.edu	37	13	37606001	37606001	+	Missense_Mutation	SNP	T	T	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr13:37606001T>A	ENST00000360252.4	-	11	989	c.742A>T	c.(742-744)Aat>Tat	p.N248Y	SUPT20H_ENST00000350612.6_Missense_Mutation_p.N247Y|SUPT20H_ENST00000356185.3_Missense_Mutation_p.N248Y|SUPT20H_ENST00000475892.1_Missense_Mutation_p.N247Y|SUPT20H_ENST00000542180.1_Missense_Mutation_p.N235Y|SUPT20H_ENST00000464744.1_Missense_Mutation_p.N248Y	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGCTGCCGATTCAGAGAGGAT	0.363000													8	64					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1637095	1637095	+	Silent	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr17:1637095G>C	ENST00000409644.1	+	7	4764	c.4764G>C	c.(4762-4764)gtG>gtC	p.V1588V	WDR81_ENST00000419248.1_Silent_p.V361V|WDR81_ENST00000437219.2_Silent_p.V385V|WDR81_ENST00000545662.1_Silent_p.V219V|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Silent_p.V227V|WDR81_ENST00000309182.5_Silent_p.V537V	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	361										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTCGGGGGTGGGTGGCGGGG	0.687000													8	70					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104335518	104335518	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:104335518C>G	ENST00000361820.3	-	9	3886	c.3286G>C	c.(3286-3288)Gct>Cct	p.A1096P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1096					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTGCTCACAGCCAGCTGCAGC	0.522000													25	101					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121384861	121384861	+	Splice_Site	SNP	G	G	C	rs149041363		TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:121384861G>C	ENST00000260197.7	+	8	1171	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	348					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.E348K(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATTCCAAAGGAATATTACAT	0.433000													15	65					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16892232	16892232	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:16892232G>A	ENST00000430580.2	-	27	3847	c.2960C>T	c.(2959-2961)tCa>tTa	p.S987L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	987	NBPF 6.					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)		GGAAGGAGTTGAATAACATCT	0.468000													29	1714					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20811725	20811725	+	Splice_Site	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:20811725C>G	ENST00000564349.1	-	7	657		c.e7-1		ERI2_ENST00000357967.4_Splice_Site|ERI2_ENST00000389345.5_Intron|ERI2_ENST00000300005.3_Splice_Site|ERI2_ENST00000563117.1_Splice_Site|ERI2_ENST00000569729.1_Splice_Site			A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2							intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						AAGTCCCAGTCTGCATTAGGT	0.353000													17	100					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68504829	68504829	+	Missense_Mutation	SNP	T	T	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr4:68504829T>C	ENST00000322244.5	-	19	1627	c.1568A>G	c.(1567-1569)tAc>tGc	p.Y523C		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGCAGCAGTGTAGCTTTTAGG	0.318000													4	23					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560221	33560221	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:33560221C>A	ENST00000228567.3	-	3	876	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.E13*	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	194						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.E194*(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAAACAGGTTCTGTGCCCATG	0.448000													9	128					1.12685e-05	1.1617e-05	1	1	0
ZNF799	90576	broad.mit.edu	37	19	12502086	12502086	+	Missense_Mutation	SNP	G	G	C			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr19:12502086G>C	ENST00000419318.1	-	4	1779	c.1030C>G	c.(1030-1032)Cat>Gat	p.H344D	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.H376D			Q96GE5	ZN799_HUMAN	zinc finger protein 799	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTTGAGCTATGAGATAACGCT	0.418000													14	316					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915420	156915420	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:156915420C>T	ENST00000257527.4	-	21	2481	c.2403G>A	c.(2401-2403)ggG>ggA	p.G801G	ADAM19_ENST00000517905.1_Silent_p.G801G|ADAM19_ENST00000394020.1_Silent_p.G803G|ADAM19_ENST00000430702.2_Silent_p.G534G	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	801					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGTGGGGACCCACCACGCA	0.627000													27	84					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011495	21011495	+	Missense_Mutation	SNP	T	T	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr12:21011495T>G	ENST00000381545.3	+	5	568	c.349T>G	c.(349-351)Ttc>Gtc	p.F117V	LST3_ENST00000540229.1_Missense_Mutation_p.F117V|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F117V|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.F117V|LST3_ENST00000381541.3_Missense_Mutation_p.F117V|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.F117V	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	117					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCACATTTCTTCATGGGATA	0.338000													19	100					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481387	95481387	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:95481387C>T	ENST00000356884.6	-	5	1607	c.1540G>A	c.(1540-1542)Ggc>Agc	p.G514S	BICD2_ENST00000375512.3_Missense_Mutation_p.G514S	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	514					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGTCTCGCCGGCGACGTCG	0.617000													33	103					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32868841	32868841	+	Nonstop_Mutation	SNP	C	C	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr20:32868841C>A	ENST00000538132.1	-	10	1600	c.1214G>T	c.(1213-1215)tGa>tTa	p.*405L	RP4-785G19.5_ENST00000512005.1_RNA|AHCY_ENST00000217426.2_Nonstop_Mutation_p.*433L	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	0					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTGGCTCTCAGTAGCGGTA	0.552000													4	41					1.23904e-05	1.26433e-05	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97185302	97185302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:97185302G>T	ENST00000514100.1	+	4	288	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Nonsense_Mutation_p.E16*|EPHA6_ENST00000442602.2_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	527						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ctggcttaatgaaaagtggga	0.418000													17	52					2.35188e-11	2.55639e-11	1	1	0
SEC24A	10802	broad.mit.edu	37	5	134011753	134011753	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:134011753G>A	ENST00000398844.2	+	7	1480	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	SEC24A_ENST00000322887.4_Missense_Mutation_p.A398T	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	398					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGACGCAGGCCTTATTGAA	0.358000													9	53					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47672769	47672769	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:47672769G>A	ENST00000406134.1	+	8	1421	c.1359G>A	c.(1357-1359)atG>atA	p.M453I	MSH2_ENST00000233146.2_Missense_Mutation_p.M453I|MSH2_ENST00000543555.1_Missense_Mutation_p.M387I			P43246	MSH2_HUMAN	mutS homolog 2	453					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCAGGAAATGATAGAAACAA	0.313000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	31					0	0	1	0	0
DUSP11	8446	broad.mit.edu	37	2	73993721	73993721	+	Splice_Site	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:73993721C>T	ENST00000272444.3	-	8	800	c.759G>A	c.(757-759)aaG>aaA	p.K253K	DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	206					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	p.K206N(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						AATTCCAATTCCTTAAAGAGA	0.348000													24	57					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189028	98189028	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:98189028C>G	ENST00000332650.5	+	1	705	c.608C>G	c.(607-609)tCa>tGa	p.S203*		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCATCTTCTCAGGTTCAGTT	0.348000													18	127					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89851292	89851292	+	Silent	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:89851292G>A	ENST00000389301.3	-	15	1470	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L	FANCA_ENST00000568369.1_Silent_p.L480L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	480					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CAAAAGGCACGAGTTCTGACA	0.562000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				48	166					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110838840	110838840	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr13:110838840G>A	ENST00000375820.4	-	26	1910	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	597	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTGTCACCACGACTGCCTGGG	0.577000													30	174					0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156278611	156278611	+	Missense_Mutation	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr4:156278611C>T	ENST00000311277.4	-	8	1374	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	AC097467.2_ENST00000598252.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.A347T|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	371					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CTGGCAGATGCACTGGATGCT	0.279000													7	41					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59369294	59369294	+	Silent	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr11:59369294G>T	ENST00000263847.1	-	4	1319	c.840C>A	c.(838-840)ctC>ctA	p.L280L		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	280					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGGCTAACATGAGGAAATCTC	0.488000													21	66					1.2644e-06	1.33799e-06	1	1	0
NHLRC1	378884	broad.mit.edu	37	6	18122747	18122747	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr6:18122747C>G	ENST00000340650.3	-	1	104	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	31					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCAAACTTCTCAAAGCACACC	0.706000													19	46					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174835	51174835	+	Missense_Mutation	SNP	A	A	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr16:51174835A>G	ENST00000440970.1	-	2	1438	c.1007T>C	c.(1006-1008)gTc>gCc	p.V336A	SALL1_ENST00000251020.4_Missense_Mutation_p.V433A|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	433					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAAGGCAGTGACATTTGGTGG	0.498000													16	147					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525865	61525865	+	Silent	SNP	C	C	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr20:61525865C>T	ENST00000266070.4	-	11	2797	c.2472G>A	c.(2470-2472)aaG>aaA	p.K824K	DIDO1_ENST00000395340.1_Silent_p.K824K|DIDO1_ENST00000395335.2_Silent_p.K824K|DIDO1_ENST00000395343.1_Silent_p.K824K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	824					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCGCTGTGCTCTTCTCAGGGA	0.473000													15	46					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	98011414	98011414	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:98011414C>G	ENST00000289081.3	-	2	414	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	FANCC_ENST00000375305.1_Missense_Mutation_p.E54Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	54					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CTTACCATCTCTTTCAAGGCT	0.453000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				30	72					0	0	1	0	0
ACKR3	57007	broad.mit.edu	37	2	237489376	237489376	+	Missense_Mutation	SNP	G	G	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr2:237489376G>T	ENST00000272928.3	+	2	578	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		GGCCATTGCCGACCTGTGGGT	0.572000													27	40					7.33532e-06	7.64096e-06	1	1	0
EGFL7	51162	broad.mit.edu	37	9	139564626	139564626	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr9:139564626G>A	ENST00000371699.1	+	7	1326	c.415G>A	c.(415-417)Gat>Aat	p.D139N	EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Missense_Mutation_p.D139N|EGFL7_ENST00000406555.3_Missense_Mutation_p.D139N|EGFL7_ENST00000371698.3_Missense_Mutation_p.D139N			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	139	EGF-like 2; calcium-binding (Potential).				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGCAGATGTGGATGAATGCAG	0.642000													33	109					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39007313	39007313	+	Missense_Mutation	SNP	C	C	G			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr8:39007313C>G	ENST00000379907.4	+	5	407	c.280C>G	c.(280-282)Caa>Gaa	p.Q94E	ADAM32_ENST00000437682.2_Missense_Mutation_p.Q101E|ADAM32_ENST00000519315.1_Missense_Mutation_p.Q94E	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	94					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTCCTAGACTCAATGCTACTA	0.348000													11	44					0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192321329	192321329	+	Missense_Mutation	SNP	G	G	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:192321329G>A	ENST00000417209.2	+	4	415	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	81	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						CATTGAAGCTGATGCACCTAA	0.383000													7	43					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	RNA	DEL	T	T	-			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294													5	10	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824710	+	RNA	DEL	T	T	-	rs139188639		TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr3:106824710delT	ENST00000484698.1	-	0	295																											tttttatatcttttttttttt	0.448													3	2	---	---	---	---					
MATR3	9782	broad.mit.edu	37	5	138643614	138643614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:138643614delA	ENST00000394800.2	+	6	1059	c.510delA	c.(508-510)ccafs	p.P170fs	MATR3_ENST00000510056.1_Frame_Shift_Del_p.P170fs|MATR3_ENST00000394805.3_Frame_Shift_Del_p.P170fs|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Frame_Shift_Del_p.P170fs|MATR3_ENST00000502929.1_Frame_Shift_Del_p.P170fs|MATR3_ENST00000361059.2_Frame_Shift_Del_p.P170fs			P43243	MATR3_HUMAN	matrin 3	170						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGGAGCCACCATACAGAGTAC	0.453													28	81	---	---	---	---					
HMMR	3161	broad.mit.edu	37	5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr5:162917425_162917426insA	ENST00000393915.4	+	17	2135_2136	c.1992_1993insA	c.(1993-1995)aaafs	p.K665fs	RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.K664fs	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding (Potential).					cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GTCAGCTTGCTAAAAAAAAACA	0.307													8	98	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352636	5352638	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr7:5352636_5352638delGAG	ENST00000399537.4	-	27	8232_8234	c.7884_7886delCTC	c.(7882-7887)tcctca>tca	p.2628_2629SS>S	TNRC18_ENST00000430969.1_In_Frame_Del_p.2628_2629SS>S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2628	Ser-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggatgaggaggaggagg	0.650													5	5	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48937039	48937040	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr13:48937039_48937040insA	ENST00000267163.4	+	8	945_946	c.807_808insA	c.(808-810)gatfs	p.D270fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	270					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.L267fs*3(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACTAGAAAATGATACAAGAAT	0.347		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			22	45	---	---	---	---					
NEK9	91754	broad.mit.edu	37	14	75563807	75563816	+	Frame_Shift_Del	DEL	GATGAGAATG	GATGAGAATG	-			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr14:75563807_75563816delGATGAGAATG	ENST00000238616.5	-	17	2318_2327	c.2160_2169delCATTCTCATC	c.(2158-2169)accattctcatcfs	p.TILI720fs		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	720					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	p.I723V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTTACCAACGATGAGAATGGTATGCCATC	0.486													9	66	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													9	115	---	---	---	---					
NF2	4771	broad.mit.edu	37	22	30050650	30050651	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LC-A66R-01A-41D-A30E-08	TCGA-LC-A66R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41c7cc62-4ee2-4da7-a8eb-3cdbb4c01f55	42e78283-7269-4362-8f36-6a3db0eba823	g.chr22:30050650_30050651insT	ENST00000338641.4	+	5	893_894	c.452_453insT	c.(451-456)ggtgacfs	p.D152fs	NF2_ENST00000361166.4_Frame_Shift_Ins_p.D152fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000397789.3_Frame_Shift_Ins_p.D152fs|NF2_ENST00000403999.3_Frame_Shift_Ins_p.D152fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Frame_Shift_Ins_p.D69fs|NF2_ENST00000361676.4_Frame_Shift_Ins_p.D110fs|NF2_ENST00000361452.4_Frame_Shift_Ins_p.D111fs|NF2_ENST00000353887.4_Frame_Shift_Ins_p.D69fs|NF2_ENST00000403435.1_Frame_Shift_Ins_p.D152fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	152	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(4)|p.D152fs*18(2)|p.Y150fs*46(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCCAGTATGGTGACTACGACC	0.460			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				121	114	---	---	---	---